Browse IKZF1 in pancancer

Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Domain, Function and Classification
> Gene Ontology
> KEGG and Reactome Pathway
> Domain, Function and Classification
 
Domain -
Function

Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).

Classification
Class Modification Substrate Product PubMed
Chromatin remodelling # DNA motif # 19141594
> Gene Ontology
 
Biological Process GO:0002262 myeloid cell homeostasis
GO:0002521 leukocyte differentiation
GO:0007498 mesoderm development
GO:0030098 lymphocyte differentiation
GO:0030099 myeloid cell differentiation
GO:0030218 erythrocyte differentiation
GO:0034101 erythrocyte homeostasis
GO:0048872 homeostasis of number of cells
Molecular Function -
Cellular Component GO:0000775 chromosome, centromeric region
GO:0000785 chromatin
GO:0000790 nuclear chromatin
GO:0000792 heterochromatin
GO:0005720 nuclear heterochromatin
GO:0005721 pericentric heterochromatin
GO:0031618 nuclear pericentric heterochromatin
GO:0044454 nuclear chromosome part
GO:0098687 chromosomal region
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Mutation landscape in primary tumor tissue from TCGA
> Mutation landscape in cancer cell line from CCLE
> All mutations from COSMIC database V81
> Variations from text mining
> The Cancer Genome Atlas (TCGA)
 
> Cancer Cell Line Encyclopedia (CCLE)
 
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4172535c.?p.?UnknownSkin
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328011c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4989854c.?p.M476>PRComplex - insertion inframeHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86975c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1238061c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87254c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86975c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87297c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM4989857c.?p.V341fsFrameshiftHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1238061c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328008c.851-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87253c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87263c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86971c.1-?_715+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM303909c.?_?del?p.?fsDeletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM303909c.?_?del?p.?fsDeletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM86972c.1-?_421+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86975c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328503c.161-31360_850+4104>TCCp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86968c.?p.L117fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM86978c.41-?_715+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86975c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85910c.1004_1005insCp.G337fs*152Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87263c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86967c.?p.H224fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328502c.161-31337_850+4078>GGGGp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM133012c.41-?_160+?del120p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM133032c.161-?_715+?del555p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86974c.1-?_589+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86971c.1-?_715+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86969c.?p.S402fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86975c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4989853c.?p.F471>LRAComplex - insertion inframeHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM303909c.?_?del?p.?fsDeletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87260c.41-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87253c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86974c.1-?_589+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86974c.1-?_589+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87249c.1520C>Ap.S507*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87296c.1-?_421+?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM26582c.1297C>Ap.R433SSubstitution - MissenseLung
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85908c.?p.R111*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87254c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86942c.1-?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86972c.1-?_421+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328008c.851-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87302c.308_309ins23p.R111fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM249841c.472G>Ap.G158SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM249842c.87G>Cp.E29DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM87296c.1-?_421+?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4606322c.551G>Cp.R184PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86968c.?p.L117fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4989855c.?p.Q62fsFrameshiftHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4989852c.?p.C495YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM87254c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86970c.?p.E504fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86966c.?p.G158SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87297c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328501c.161-31337_850+4069delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM303909c.?_?del?p.?fsDeletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM86978c.41-?_715+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87302c.308_309ins23p.R111fs*15Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86942c.1-?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1238061c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87263c.1-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86942c.1-?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4989856c.?p.R143QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM1238061c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86979c.41-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM328011c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4606322c.551G>Cp.R184PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM85913c.1-?_160+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86969c.?p.S402fs*?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5985127c.?p.E251KSubstitution - MissenseSalivary_gland
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM86976c.1-?_40+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM133032c.161-?_715+?del555p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1716600c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM86973c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM87295c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85916c.?_?del?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85914c.1_1560del1560p.0?Whole gene deletionHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85911c.161-?_1560+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5022462c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85912c.1-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM85915c.161-?_850+?delp.?UnknownHaematopoietic_and_lymphoid_tissue
> Text Mining based Variations
 
PMID Variation Cancer Evidence
26297264MutationChronic Myeloid LeukemiaMutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.
27664237Mutation (loss of function)B Acute Lymphoblastic LeukemiaIKAROS is required for the differentiation of highly proliferative pre-B-cell precursors, and loss of IKAROS function indicates poor prognosis in precursor B-cell acute lymphoblastic leukemia (B-ALL).
27644650MutationChildhood B Acute Lymphoblastic LeukemiaGenotypic and allelic frequencies differed significantly between cases and controls at IKZF1-rs4132601 (p=0.039, p=0.015) and ARID5B-rs10821936 (p=0.028, p=0.026).
27614734mutationB Acute Lymphoblastic LeukemiaWe have identified at the diagnosis clonal IGH rearrangement (VH3-JH5) and IKZF1 deletion (Δ4-7), which we have used it for MRD evaluation after induction chemotherapy.
27419633mutationAcute Lymphoblastic LeukemiaCOBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.
27415155MutationAcute Myeloid LeukemiaMoreover, we detected 2 novel genomic mutations in 2 known leukemogenic genes, IKZF1 and ASXL1.
27265895MutationB Acute Lymphoblastic LeukemiaFurthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations.
27229714mutationAcute Lymphoblastic LeukemiaThe genomic profile of ETV6-ABL1 acute lymphoblastic leukemia resembled that of BCR-ABL1 and BCR-ABL1-like cases with 80% of patients having concurrent CDKN2A/B and IKZF1 deletions.
27181063MutationB Acute Lymphoblastic LeukemiaWe observed and validated point mutations in EP300 and NF1, a highly expressed EP300-ZNF384 gene fusion, a microdeletion in IKZF1, a focal deletion affecting SETD2, and large deletions affecting RB1, PAX5, NF1, and ETV6.
27176795mutationB Acute Lymphoblastic LeukemiaIKZF1 deletion was present in 16 of the 22 patients.
27007619MutationAcute Lymphoblastic LeukemiaUsing a standardized bioinformatics algorithm, we identified kinase and cytokine receptor rearrangements in the majority of ALL patients with high burden of postinduction MRD and enrichment of IKZF1 mutation or deletion (IKZF1(del) ).
26991355MutationAcute Lymphoblastic LeukemiaPhiladelphia chromosome-like ALL is essentially heterogeneous; however, deletion mutations in the IKZF1 gene encoding the transcription factor IKAROS underlie many cases as a key factor inducing aggressive phenotypes and poor treatment responses.
26892479MutationAcute Lymphoblastic LeukemiaClinical impact of ABL1 kinase domain mutations and IKZF1 deletion in adults under age 60 with Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL): molecular analysis of CALGB (Alliance) 10001 and 9665. Of these, 22 (79%) had IKZF1 deletion.
26886259MutationTypical Acute Promyelocytic LeukemiaAfter prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.
26875463mutationB Acute Lymphoblastic LeukemiaTo identify ikaros family zinc finger1 (IKZF1) deletion in patients with pediatric B cells-acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnomalities and further investigate its value in this part of patients' pathogenesis and prognosis. Three of 19 patients with IKZF1 deletions of the whole gene; ten of 19 patients with IKZF1 deletions of exon 1; 4 of 19 patients with IKZF1 deletions of exons 4-7; one of 19 patients with IKZF1 deletions of exons 2-7 and one of 19 patients with IKZF1 deletions of exons 1-6.
26704074mutationB Acute Lymphoblastic LeukemiaIKZF1 deletions have been reported with variable frequency in B-ALL. The IKZF1 deletions were detected in 29 (28.7%) cases; 53% BCR-ABL positive, 24% BCR-ABL negative, 47% adult and 24% pediatric cases. The IKZF1 deletions were detected in 28.7% B-ALL patients.
26655717Mutation (loss of function)B Acute Lymphoblastic LeukemiaImpaired function of the Ikaros (IKZF1) protein is associated with the development of high-risk B-cell precursor acute lymphoblastic leukemia (B-ALL).
26575870mutationChildhood B Acute Lymphoblastic LeukemiaTo identify IKZF1 gene copy number abnormalities in BCR/ABL-negative B-lineage acute lymphoblastic leukemia (B-ALL) in children, and to investigate the association between such abnormalities and prognosis. Among 180 children, 27 (15.0%) had IKZF1 deletion; among the 27 children, 4 had complete deletions of 8 exons of IKZF1 gene, 17 had deletion of exon 1, 3 had deletions of exons 4-7, and 3 children had deletions of exons 2-7. Compared with those in the IKZF1 normal group, children in the IKZF1 deletion group had higher white blood cell (WBC) count and percentage of individuals with high risk of minimal residual disease at the first visit.
26517351mutationAcute Lymphoblastic LeukemiaIKZF1 deletion is associated with the development and poor outcome of ALL.
26404892mutationAcute Lymphoblastic LeukemiaIdentification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion.
26321221MutationAcute Lymphoblastic LeukemiaAlterations of IKZF1, encoding the lymphoid transcription factor IKAROS, are a hallmark of high-risk acute lymphoblastic leukemia (ALL), however the role of IKZF1 alterations in ALL pathogenesis is poorly understood.
26314472Mutation (loss of function)B Acute Lymphoblastic LeukemiaFunction-loss mutations of IKZF1, gene encoding Ikaros are frequent in B cell acute lymphoblastic leukemia (B-ALL) and are associated with a poor prognosis.
26277549mutationB Acute Lymphoblastic LeukemiaIn children older than 2 years, there was a predominance of CNAs involving deletions in IKZF1, CDKN2A, and CDKN2B, whereas the pseudoautosomal region 1 (PAR1) had deletions that were found more frequently in infants (P<0.05).
26202931mutationChildhood B Acute Lymphoblastic LeukemiaDeletions in IKZF1 are found in ~15% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
26194343mutationChildhood B Acute Lymphoblastic LeukemiaThe cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) deletion (59 of 142 or 42%) was the most frequent CNA, and it was followed by Ikaros family zinc finger 1 (IKZF1) losses (49 of 142 or 35%). IKZF1 deletions were more prevalent in Philadelphia chromosome (Ph)-positive ALL and were associated with advanced age and high white blood cell (WBC) counts. Deletions of EBF1, IKZF1, and CDKN2A/B have an independent adverse prognosis for adolescents and adults with B-precursor ALL, and this suggests that these CNAs should be included in the initial risk assessment of ALL.
26140241MutationAcute Lymphoblastic LeukemiaClinical studies have identified alterations in Ikaros (Ik) transcription factor as the major marker associated with poor outcomes in ALL.
26069293MutationAcute Myeloid LeukemiaRecurrent deletions of IKZF1 in pediatric acute myeloid leukemia. Three patients were identified with a single amino acid variant without change of IKZF1 length. Out of 11 patients with an IKZF1 deletion, 8 samples revealed a complete loss of chromosome 7, and 3 cases a focal deletion of 0.1-0.9Mb. These deletions included the complete IKZF1 gene (n=2) or exons 1-4 (n=1), all leading to a loss of IKZF1 function. Together, these results suggest that loss of IKZF1 is recurrent in pediatric acute myeloid leukemia and might be a determinant of oncogenesis in acute myeloid leukemia with monosomy 7.
26050650mutationChildhood B Acute Lymphoblastic LeukemiaIKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951.
26018335mutationB Acute Lymphoblastic LeukemiaThe clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013. Paediatric B-cell precursor acute lymphoblastic leukaemias (BCP ALL) with IKZF1 deletions (IKZF1) are associated with a poor outcome.
25990863MutationB Acute Lymphoblastic LeukemiaOver the last few years, high-resolution analysis of genetic changes in leukemia has revealed that several key regulators of normal B-cell development, including IKZF1, TCF3, EBF1, and PAX5, are genetically altered in a large portion of the human B-lineage acute leukemias.
25761407MutationChildhood Acute Lymphoblastic LeukemiaAssociation of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. Significant associations between genotypes at IKZF1, ARID5B, and CEBPE and ALL risk were identified: rs7780012, OR 0.50, 95% confidence interval (CI) 0.35-0.71 (p = 0.004); rs7089424, OR 2.12, 95% CI 1.70-2.65 (p = 1.16 × 10(-9)); rs4982731, OR 1.69, 95% CI 1.37-2.08 (p = 2.35 × 10(-6)), respectively. Results implicate the ARID5B, CEBPE, and IKZF1 genes in the pathogenesis of childhood ALL.
25753742MutationB Acute Lymphoblastic LeukemiaThis review summarizes our current knowledge of IKZF1 abnormalities in human disease, with an emphasis on BCP ALL.
25727050MutationB Acute Lymphoblastic LeukemiaIn contrast to IKZF1 deletions (ΔIKZF1), IKZF1 sequence mutations (mutIKZF1) have been reported to be rare in B-cell precursor acute lymphoblastic leukemia and their clinical implications are unknown.
25655195Mutation; UnderexpressionT Acute Lymphoblastic LeukemiaActivating NOTCH1 mutations occur in ~60% of human T-cell acute lymphoblastic leukemias (T-ALLs), and mutations disrupting the transcription factor IKZF1 (IKAROS) occur in ~5% of cases. Furthermore, we find that IKAROS mRNA expression is significantly reduced in a cohort of primary human T-ALL patient samples with activating NOTCH1/FBXW7 mutations, but is upregulated upon acute inhibition of aberrant NOTCH signaling across a panel of human T-ALL cell lines.
25587040MutationB Acute Lymphoblastic LeukemiaIn B-cell precursor ALL, SCT also benefitted patients with focal IKZF1 gene deletion (hazard ratio, 0.42).
25501350MutationAcute Lymphoblastic LeukemiaIKZF1 deletions were identified in 93 patients (78.8%).
25423013MutationChildhood Acute Lymphoblastic Leukemia; B Acute Lymphoblastic LeukemiaTwo common polymorphisms in the IKZF1 gene (rs4132601 and rs11978267 variants) have been reported to be associated with childhood acute leukemia (AL) risk, however the results were inconsistent. In summary, this meta-analysis provides evidence that rs4132601 and rs11978267 polymorphisms in the IKZF1 gene might contribute to the occurrence of BCP-ALL, especially in European populations.
25335741MutationAcute Lymphoblastic LeukemiaThe findings from this meta-analysis suggest that IKZF1 deletion can be used to serve as an independent predictive factor in patients with ALL.
25331116Mutation; UnderexpressionAcute Lymphoblastic LeukemiaResults confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and identify new recurrent mutations in splicing factors (5/12 AMLs in SF3B1 and 2/12 AMLs in U2AF1), IKZF1 (3/12 AMLs), and TP53 (3/12 AMLs). Moreover IKZF1 expression is halved in monosomy 7 leukemias.
25261097MutationB Acute Lymphoblastic LeukemiaApart from identifying characteristic microdeletions of the CDKN2A, EBF1, ETV6, IKZF1, PAX5 and RB1 genes, the present study uncovered novel, focal deletions of the BCAT1, BTLA, NR3C1, PIK3AP1 and SERP2 genes in 2-6% of the adult cases. IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-ABL1-positive acute lymphoblastic leukemia (P<0.001), and higher white blood cell counts (P=0.005).
25150625MutationChildhood B Acute Lymphoblastic LeukemiaDespite the fact that BCP-ALL with ETV6-RUNX1 usually results in a very good prognosis, the sibs experienced divergent outcomes; a remarkable difference in one child that presented a more aggressive disease was higher leukocytosis associated with IKZF1 deletion. The sibs were absolutely identical in all 17 loci of genes tested; GSTM1, GSTT1, NQO1, TP53, and TP63 were wild-type, whereas at least one copy of the variant allele for IKZF1, ARID5B, PTPRJ and CEBPE was present.
25044358MutationAcute Lymphoblastic LeukemiaIKZF1 deletions, found in 20-30% of DS-ALL patients, are associated with a poor outcome and EBF1 deletions are very rare (2%). IKZF1 deletions were detected in 25% of patients and associated with shorter overall survival (OS).
24976218MutationChildhood Acute Lymphoblastic LeukemiaIkaros, the product of IKZF1, is a regulator of lymphoid development and polymorphisms in the gene have been associated with the acute lymphoblastic leukemia (ALL). Additionally, IKZF1 deletions and mutations identify high-risk biological subsets of childhood ALL [Georgopoulos et al. Cell 1995;83(2):289-299; Mullighan et al.
24753091MutationAcute Lymphoblastic LeukemiaBoth the TEL-AML1 translocation and high-hyperdiploidy were associated with younger age at diagnosis (24.4 months, P=2.0 x 10(-4) and 12.4 months, P=0.011, respectively), while CDKN2A and IKZF1 deletions were associated with older age at diagnosis (19.7 months, P=7.0 x 10(-4) and 18.1 months, P=0.012, respectively).
24740809MutationB Acute Lymphoblastic LeukemiaA higher specific hazard of relapse was independently associated with postinduction MRD level ≥10(-4) and unfavorable genetic characteristics (ie, MLL gene rearrangement or focal IKZF1 gene deletion in BCP-ALL and no NOTCH1/FBXW7 mutation and/or N/K-RAS mutation and/or PTEN gene alteration in T-cell ALL).
24673583MutationChronic Myeloid LeukemiaIKZF1, PAX5, CDKN2A deletions) could be detected in CML-CP and may be used to predict disease progression to LyBC.
24659638MutationAcute Lymphoblastic LeukemiaDeletions and/or mutations of Ikaros have been detected in a large percentage of pediatric and adult ALL and reduced Ikaros function has been associated with poor outcome in ALL.
24578304MutationB Acute Lymphoblastic LeukemiaInterestingly, the two patients with IKZF1 deletion eventually relapsed in JACLS cohort, as did one patient in CCLSG cohort. International collaborative study of larger cohort is warranted to clarify the impact of the IKZF1 deletion on the poor outcome of TCF3-PBX1 positive BCP-ALL.
24366361MutationChildhood B Acute Lymphoblastic LeukemiaChildhood BCR-ABL1-positive B-cell precursor acute lymphoblastic leukemia (BCP-ALL) has an unfavorable outcome and shows high frequency of IKZF1 deletions. In 126/191 (66%) cases an IKZF1 deletion was detected. In conclusion, the highly unfavorable outcome for childhood BCR-ABL1-positive BCP-ALL with IKZF1 deletions, irrespective of imatinib exposure, underscores the need for alternative therapies.
24156417MutationB Acute Lymphoblastic LeukemiaFour out of 7 (57.1%) patients were found to have IKZF1 gene deletion, without other common gene mutations.
24141364MutationPh-like Acute Lymphoblastic LeukemiaThe rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression.
24081948MutationChildhood B Acute Lymphoblastic LeukemiaGenomic alterations in B cell differentiation factors such as PAX5, IKZF1, and EBF-1 have been identified in more than half of all cases of childhood B precursor acute lymphoblastic leukemia (ALL).
24064621MutationB Acute Lymphoblastic LeukemiaAn intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions. However, ERG(del) patients had a very good outcome, with an 8-year event-free survival (8-y EFS) and an 8-year overall survival of 86.4% and 95.6%, respectively, suggesting that the IKZF1 deletion had no impact on prognosis in this genetic subtype.
23974192MutationB Acute Lymphoblastic LeukemiaBCR-ABL1-like, IKZF1-deleted, and CRLF2-high cases constitute 33.7% of BCR-ABL1-negative, MLL wild-type BCP-ALL cases, of which BCR-ABL1-like and IKZF1 deletion (co)occurred most frequently. No relapses occurred among cases with CRLF2-high as single feature, whereas 62.9% of all relapses in BCR-ABL1-negative, MLL wild-type BCP-ALL occurred in cases with BCR-ABL1-like signature and/or IKZF1 deletion.
23930217MutationB Acute Lymphoblastic LeukemiaIKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan. Genetic alterations of Ikaros family zinc finger protein 1 (IKZF1), point mutations in Janus kinase 2 (JAK2), and overexpression of cytokine receptor-like factor 2 (CRLF2) were recently reported to be associated with poor outcomes in pediatric B-cell precursor (BCP)-ALL. Deletion of IKZF1 occurred in 19/202 patients (9.4%) and CRLF2 overexpression occurred in 16/107 (15.0%), which are similar to previous reports. IKZF1 deletion was identified as adverse prognostic factor even in pediatric BCP-ALL in NCI-HR showing good response to PSL.
23823658MutationB Acute Lymphoblastic LeukemiaDeletions of IKZF1 and SPRED1 are associated with poor prognosis in a population-based series of pediatric B-cell precursor acute lymphoblastic leukemia diagnosed between 1992 and 2011. Of these, deletions/uniparental isodisomies of ADD3, ATP10A, EBF1, IKZF1, PAN3, RAG1, SPRED1 and TBL1XR1 were significantly more common in B-cell precursor ALL patients who relapsed compared with those remaining in complete remission. Older age and deletions of IKZF1 and SPRED1 were also associated with poor overall survival.
23804397MutationB Acute Lymphoblastic LeukemiaGenome-wide analysis studies have demonstrated that IKZF1, CRLF2, and JAK2 gene alterations correlate with poor prognosis in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). IKZF1 deletions and CRLF2-high expression were identified in 22 of 177 (12%) patients and in 15 of 141 (11%) patients, respectively. IKZF1 deletions and CRLF2-high expression predicted poor outcomes in patients with HR-ALL but not in patients with SR-ALL in our Japanese cohort.
23759245MutationB Acute Lymphoblastic LeukemiaMultivariate models revealed that, besides WBC more than 30×10(9)/L and IK6 variant of IKZF1, high MSI2 expression was also an independent prognostic factor for adult BCR-ABL-negative B-ALL.
23751147MutationB Acute Lymphoblastic LeukemiaHigh frequency of IKZF1 genetic alterations in adult patients with B-cell acute lymphoblastic leukemia. Aberrant isoforms of IKZF1 were detected using RT-PCR. The copy numbers of IKZF1 exons and fusion genes caused by exon deletions were determined using RQ-PCR and genomic PCR, respectively. In total, 41 of the 78 (52.6%) patients harbored IKZF1 alterations, which were identified in 20 of 24 (83.3%) patients with Philadelphia chromosome (Ph)-positive B-ALL compared with 21 of 54 (38.9%) Ph-negative B-ALL (P=0.0004). IKZF1 alterations are highly involved even in adults with B-ALL.
23675566MutationB Acute Lymphoblastic LeukemiaOne of these mutations comprises the IKZF1 gene, encoding the IKAROS transcription factor which is one of the essential transcription factors driving lymphoid development. IKZF1 deletions were first identified by SNP arrays in ALL patients, and later identified with a high prevalence in BCR-ABL1(+) patients. Here, we characterized IKZF1 deletions in pediatric BCP-ALL patients by combining MLPA mapping experiments with long distance inverse PCR.
23591360MutationPh-like Acute Lymphoblastic LeukemiaPh-like ALL (BCR-ABL1-like ALL) patients lack a previously identified chromosomal rearrangement, but exhibit a gene-expression profile highly similar to that of Ph+ALL, and often have deletion/mutation of IKZF1, CRLF2 rearrangments and JAK1/2sequence mutations which are also common in Ph+ALL.
23585525mutationB Acute Lymphoblastic LeukemiaMost IKZF1-deleted cases stratified in the high-risk group relapsed, suggesting that once identified, patients with these deletions require an alternative treatment.
23512250MutationAcute Lymphoblastic LeukemiaARID5B, IKZF1, CEBPE, and BMI1-PIP4K2A variants cumulatively conferred strong predisposition to ALL, with children carrying six to eight copies of risk alleles at a ninefold (95% confidence interval = 6.9 to 11.8) higher ALL risk relative to those carrying zero to one risk allele at these four single nucleotide polymorphisms.
23484726MutationAcute Lymphoblastic LeukemiaThe roles of hematopoietic stem cells, some gene abnormalities including IKZF1, JAK, CRLF2 and CREBBP, as well as mutation of genes influencing drug resistance have been confirmed to related with relapse of disease.
23233609MutationB Acute Lymphoblastic LeukemiaMutations in genes regulating lymphoid development are a hallmark of ALL, and alterations of the lymphoid transcription factor gene IKZF1 (IKAROS) are associated with a high risk of treatment failure in B-ALL.
23212523MutationPh-like Acute Lymphoblastic LeukemiaOne recently identified subtype of pediatric B-precursor acute lymphoblastic leukemia (ALL) has been termed BCR-ABL1-like or Ph-like because of similarity of the gene expression profile to BCR-ABL1 positive ALL suggesting the presence of lesions activating tyrosine kinases, frequent alteration of IKZF1, and poor outcome.
23210573MutationB Acute Lymphoblastic LeukemiaJAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214.
23065506MutationB Acute Lymphoblastic LeukemiaDeletion of the Ikaros (IKZF1) gene is an oncogenic lesion frequently associated with BCR-ABL1-positive acute lymphoblastic leukemias.
22897847MutationB Acute Lymphoblastic LeukemiaGenomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of IKZF1, a gene expression profile similar to BCR-ABL1-positive ALL and poor outcome (Ph-like ALL).
22875627MutationAcute Lymphoblastic LeukemiaIKZF1 gene deletions have been associated with a poor outcome in pediatric precursor B-cell acute lymphoblastic leukemia.
22851563MutationAcute Lymphoblastic LeukemiaDeletions of CDKN2A/B, IKZF1, PAX5, ETV6, RB1, BTG1, or EBF1 were prevalent with 101 (33%) of 304 patients harboring one and 102 (33%) harboring two or more alterations, occurring with varying frequency in all cytogenetic subgroups.
22704337MutationMyeloproliferative NeoplasmExamples include mutations in genes encoding proteins that modify chromatin structure (EZH2, ASXL1, IDH1/2, JAK2V617F, and IKZF1) as well as epigenetic modification of genes critical for cell proliferation and survival (suppressors of cytokine signaling, polycythemia rubra vera-1, CXC chemokine receptor 4, and histone deacetylase (HDAC)).
22699455MutationAcute Lymphoblastic LeukemiaThe most common alterations were deletions of CDKN2A/2B, IKZF1, PAX5, ETV6, fusion of ETV6-RUNX1 and deletions and/or mutations of TP53. Multivariate analysis identified IKZF1 deletion and TP53 alteration as independent predictors of inferior outcome (P=0.002 and P=0.001). In high-risk relapse patients, deletion of IKZF1 is strongly predictive of a second relapse after stem cell transplantation (P<0.001).
22581002MutationAcute Lymphoblastic LeukemiaAfter investigating common acute leukemia-related mutations in 17 genes, 12 of 31 (39%) patients were found to have at least one mutation, classified with: IKZF1 deletion (4 of 31), and EZH2 (3 of 31), ASXL1 (3 of 31), ETV6 (2 of 31), NOTCH1 (1 of 31), and TET2 (1 of 31) mutations. Array-CGH revealed genomic deletions of CDKN2A (4 of 12), IKZF1 (3 of 12), MEF2C (2 of 12), BTG1 (2 of 12), together with BCOR, EBF1, K-RAS, LEF1, MBNL1, PBX3, and RUNX1 (one of 12 each).
22422485MutationChildhood Acute Lymphoblastic LeukemiaHomozygosity for a variant IKZF1 allele (rs11978267) increased risk of infant AML [Odds ratio (OR)= 3.9, 95% confidence interval (CI)= 1.8-8.4]; the increased risk was similar for AML/MLL+ and MLL- cases.
22368272MutationChildhood B Acute Lymphoblastic LeukemiaAs controversy exists regarding the prognostic significance of genomic rearrangements of CRLF2 in pediatric B-precursor acute lymphoblastic leukemia (ALL) classified as standard/intermediate-risk (SR) or high-risk (HR), we assessed the prognostic significance of CRLF2 mRNA expression, CRLF2 genomic lesions (IGH@-CRLF2, P2RY8-CRLF2, CRLF2 F232C), deletion/mutation in genes frequently associated with high CRLF2 expression (IKZF1, JAK, IL7R), and minimal residual disease (MRD) in 1061 pediatric ALL patients (499 HR and 562 SR) on COG Trials P9905/P9906. All CRLF2 genomic lesions and virtually all JAK mutations were found in high CRLF2 expressors, whereas IKZF1 deletions/mutations were distributed across the full cohort.
22297722MutationB Acute Lymphoblastic LeukemiaWe identified CRLF2 overexpression as an intermediate-risk marker and Ik6 variant of IKZF1 gene as a high-risk one when stratifying pediatric B-ALL cases according to cytogenetic/molecular risks.
22150304Mutation (gain of function)Acute Lymphoblastic LeukemiaParticular advances have been made in unraveling the genetics of ALL associated with overexpression of the cytokine receptor-like factor 2 gene (CRLF2), which is frequently accompanied by simultaneous activating mutations in genes encoding Ikaros (IKZF1), Janus kinase 1 (JAK1) and Janus kinase 2 (JAK2), and/or the IL-7 receptor alpha chain (IL7RA).
22072402MutationAcute Lymphoblastic LeukemiaOf the 40 microdeletions identified, several targeted specific genes, with the following being repeatedly deleted: BTG1 and CDKN2A/B (29% of cases), ETV6, IKZF1, PAX5 and SERP2 (18%), and BTLA, INPP4B, P2RY8, and RB1 (12%).
21840596MutationT Acute Lymphoblastic LeukemiaIn DP thymocytes, a 50-1000 fold escalation in mRNA for Notch1 target genes Hes1 and Dtx1 preceded thymic lymphoma or leukemia and was closely correlated with the first detectable differentiation abnormalities, loss of heterozygosity (LOH) eliminating wild-type Ikzf1, and multiple missense and truncating Notch1 mutations.
21750978MutationLeukemiaPoint mutations that abolish Ikaros-PP1 interaction result in functional changes in DNA-binding affinity and subcellular localization, similar to those observed in hyperphosphorylated Ikaros and/or Ikaros phosphomimetic mutants.
21527530MutationChildhood B Acute Lymphoblastic LeukemiaRecurrent abnormalities affecting genes in key pathways were identified: IKZF1 (22%), CDKN2A/B (17%), PAX5 (8%), ETV6 (19%), and RB1 (37%).
21387093MutationChronic Myeloid LeukemiaAberrations were also observed in individual patients, involving regions containing known leukemia-associated genes; CDKN2A/2B, IKZF1, RB1, TLX1, AFF4.
21370430MutationAcute Lymphoblastic LeukemiaHigh-resolution genomic profiling of genetic alterations and gene expression has revolutionized our understanding of the genetic basis of ALL, and has identified several alterations associated with poor outcome, including mutations of the lymphoid transcription factor gene IKZF1 (IKAROS), activating mutations of Janus kinases, and rearrangement of the lymphoid cytokine receptor gene CRLF2.
21220604MutationMyeloproliferative NeoplasmMost patients carry an activating JAK2 or MPL mutation and a smaller subset also harbors LNK, CBL, TET2, ASXL1, IDH, IKZF1, or EZH2 mutations; the precise pathogenetic contribution of these mutations is under investigation.
21169835MutationHigh Risk Acute LeukemiaNotably, genetic alterations targeting transcriptional regulators of lymphoid development are a hallmark of B-progenitor ALL, and alteration of specific genes in this pathway, such as IKZF1 (encoding IKAROS), are associated with high-risk ALL.
21149616MutationB Acute Lymphoblastic LeukemiaDeletion or sequence mutation of the lymphoid transcription factor gene IKZF1 (IKAROS) is associated with a high rate of leukemic relapse, and testing for IKZF1 alterations at diagnosis may aid risk stratification. A subset of B-ALL patients with IKZF1 alterations have a transcriptional profile similar to BCR-ABL1-positive ALL, and these patients commonly have novel rearrangements and mutations resulting in aberrant cytokine receptor signaling and activation of kinase signaling cascades, including rearrangement of CRLF2 and activating mutations of Janus kinases (JAK1 and JAK2).
21102428MutationAcute Lymphoblastic LeukemiaIntegrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia. Notably, 8 of the 11 relapsed cases in the large MRD-M group (n=81; 62%) harbored an IKZF1 alteration.
20815030MutationB Acute Lymphoblastic LeukemiaSmall intragenic aberrations detected by MLPA, which were below the resolution of FISH for CDKN2A/B (n = 7), IKZF1 (n = 3), and PAX5 (n = 3) were confirmed by qPCR.
20739952MutationAcute Lymphoblastic LeukemiaNotably, genetic alteration of the lymphoid transcription factor gene IKZF1 is a hallmark of multiple subtypes of ALL with poor prognosis, including BCR-ABL1-positive lymphoid leukemia and a subset of 'BCR-ABL1-like' ALL cases that, in addition to IKZF1 alteration, harbor genetic mutations resulting in aberrant lymphoid cytokine receptor signaling, including activating mutations of Janus kinases and rearrangement of cytokine receptor-like factor 2 (CRLF2).
20678159MutationChildhood Acute Lymphoblastic LeukemiaThe discovery of several novel high-risk markers, such as deletions in IKZF1 might be integrated into clinical protocols in the near future.
20428194MutationMyeloproliferative NeoplasmBeginning in early 2005, a number of novel mutations involving Janus kinase 2 (JAK2), Myeloproliferative Leukemia Virus (MPL), TET oncogene family member 2 (TET2), Additional Sex Combs-Like 1 (ASXL1), Casitas B-lineage lymphoma proto-oncogene (CBL), Isocitrate dehydrogenase (IDH) and IKAROS family zinc finger 1 (IKZF1) have been described in BCR-ABL1-negative MPNs. The incidence of TET2, ASXL1, CBL, IDH or IKZF1 mutations in these disorders ranges from 0 to 17%; these latter mutations are more common in chronic (TET2, ASXL1, CBL) or juvenile (CBL) myelomonocytic leukemias, mastocytosis (TET2), myelodysplastic syndromes (TET2, ASXL1) and secondary acute myeloid leukemia, including blast-phase MPN (IDH, ASXL1, IKZF1).
20139093MutationB Acute Lymphoblastic LeukemiaRearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia. Together, these observations suggest that activation of CRLF2 expression, mutation of JAK kinases, and alterations of IKZF1 cooperate to promote B-cell leukemogenesis and identify these pathways as important therapeutic targets in this disease.
21082971MutationAcute Lymphoblastic LeukemiaBy single nucleotide polymorphism array analysis, deletions of genes such as IKAROS, PAX5 and CDKN2A-CDKN2B were frequently identified.
27144525MutationCarcinoma of the Collecting Ducts of BelliniWe identified somatic SNVs in 14 other cancer census genes including: ATM, CREBBP, PRDM1, CBFB, FBXW7, IKZF1, KDR, KRAS, NACA, NF2, NUP98, SS18, TP53, and ZNF521.
28191591Mutation; copy number lossblastic PDC neoplasmThe frequent nature of deleterious mutations of IKZF3 and deletions of IKZF1 suggests a role for the Ikaros family proteins in BPDCN.
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Post-translational modification (PTM)
> Post-translational modification (PTM)
 
 Filter By:
Uniprot ID Position Amino Acid Description Upstream Enzyme Affected By Mutation Amino Acid Sequence Variant
Q1342223TPhosphothreonine-NoNone detected
Q1342263SPhosphoserine-NoNone detected
Q13422101SPhosphoserine-NoNone detected
Q13422140TPhosphothreonine-NoNone detected
Q13422168SPhosphoserine-NoNone detected
Q13422196SPhosphoserine-Yesp.S196S (cancer: SKCM)
Q13422258SPhosphoserine-NoNone detected
Q13422261SPhosphoserine-NoNone detected
Q13422289SPhosphoserine-NoNone detected
Q13422295SPhosphoserine-NoNone detected
Q13422298SPhosphoserine-NoNone detected
Q13422361SPhosphoserine-Yesp.S361T (cancer: ESCA)
Q13422364SPhosphoserine-NoNone detected
Q13422368SPhosphoserine-NoNone detected
Q13422389SPhosphoserine-NoNone detected
Q13422391SPhosphoserine-NoNone detected
Q13422393SPhosphoserine-NoNone detected
Q13422397SPhosphoserine-NoNone detected
Q13422398TPhosphothreonine-NoNone detected
Q13422402SPhosphoserine-Yesp.S402R (cancer: UCEC)
Q13422427SPhosphoserine-Yesp.S427L (cancer: SKCM)
Q13422445SPhosphoserine-NoNone detected
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Expression analysis in primary tumor tissue from TCGA
> Expression level in cancer cell line from CCLE
> Expression level in human normal tissue from HPA
> Text mining based expression change
> The Cancer Genome Atlas (TCGA)
 


  Differential expression analysis for cancers with more than 10 normal samples
Cancer Full Name # N # T Median (N) Median (T) LogFC Adj. P Status
BLCABladder urothelial carcinoma194083.1242.264-1.3090.00428Under
BRCABreast invasive carcinoma11211003.7863.7940.0140.916NS
CESCCervical and endocervical cancers33062.9163.143NANANA
COADColon adenocarcinoma414594.5542.694-1.9881.5e-18Under
ESCAEsophageal carcinoma111853.3763.154-0.0780.904NS
GBMGlioblastoma multiforme51662.8213.716NANANA
HNSCHead and Neck squamous cell carcinoma445223.1313.004-0.1270.643NS
KIRCKidney renal clear cell carcinoma725341.9514.6382.4131.31e-51Over
KIRPKidney renal papillary cell carcinoma322911.633.1441.2344.28e-07Over
LAMLAcute Myeloid Leukemia0173NA8.534NANANA
LGGBrain Lower Grade Glioma0530NA3.255NANANA
LIHCLiver hepatocellular carcinoma503732.6421.601-0.971.51e-06Under
LUADLung adenocarcinoma595175.3424.403-0.9522.69e-10Under
LUSCLung squamous cell carcinoma515015.5013.75-1.7889.7e-20Under
OVOvarian serous cystadenocarcinoma0307NA3.252NANANA
PAADPancreatic adenocarcinoma41794.6263.581NANANA
PCPGPheochromocytoma and Paraganglioma31841.7741.67NANANA
PRADProstate adenocarcinoma524982.742.8470.2460.209NS
READRectum adenocarcinoma101674.1782.45-1.793.7e-06Under
SARCSarcoma22631.852.966NANANA
SKCMSkin Cutaneous Melanoma14726.5953.27NANANA
STADStomach adenocarcinoma354153.9064.3040.0050.987NS
TGCTTesticular Germ Cell Tumors0156NA4.07NANANA
THCAThyroid carcinoma595092.5492.355-0.7430.000806Under
THYMThymoma21208.0167.289NANANA
UCECUterine Corpus Endometrial Carcinoma355462.6122.518-0.1990.438NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 3.7
Autonomic ganglia CHP212 3.8
Autonomic ganglia IMR32 4
Autonomic ganglia KELLY 3.9
Autonomic ganglia KPNRTBM1 3.9
Autonomic ganglia KPNSI9S 3.8
Autonomic ganglia KPNYN 4
Autonomic ganglia MHHNB11 3.8
Autonomic ganglia NB1 4.8
Autonomic ganglia NH6 3.9
Autonomic ganglia SHSY5Y 3.7
Autonomic ganglia SIMA 3.7
Autonomic ganglia SKNAS 4
Autonomic ganglia SKNBE2 3.9
Autonomic ganglia SKNDZ 3.8
Autonomic ganglia SKNFI 4
Autonomic ganglia SKNSH 3.8
Biliary tract HUCCT1 3.8
Biliary tract HUH28 3.9
Biliary tract SNU1079 4
Biliary tract SNU1196 3.8
Biliary tract SNU245 4
Biliary tract SNU308 3.9
Biliary tract SNU478 3.9
Bone 143B 3.8
Bone A673 4.3
Bone CADOES1 3.8
Bone CAL78 3.8
Bone G292CLONEA141B1 3.8
Bone HOS 3.8
Bone HS706T 4
Bone HS737T 3.9
Bone HS819T 3.9
Bone HS821T 3.8
Bone HS822T 3.8
Bone HS863T 3.8
Bone HS870T 4.1
Bone HS888T 3.7
Bone MG63 3.9
Bone MHHES1 3.7
Bone OUMS27 3.8
Bone RDES 4
Bone SJSA1 3.9
Bone SKES1 4
Bone SKNMC 4
Bone SW1353 3.7
Bone T173 3.9
Bone TC71 4.1
Bone U2OS 3.9
Breast AU565 4
Breast BT20 4
Breast BT474 4.1
Breast BT483 3.9
Breast BT549 4
Breast CAL120 3.8
Breast CAL148 3.8
Breast CAL51 3.8
Breast CAL851 3.9
Breast CAMA1 4.1
Breast DU4475 4.9
Breast EFM192A 3.8
Breast EFM19 3.9
Breast EVSAT 3.9
Breast HCC1143 3.9
Breast HCC1187 4.8
Breast HCC1395 3.8
Breast HCC1419 3.9
Breast HCC1428 3.8
Breast HCC1500 3.7
Breast HCC1569 3.9
Breast HCC1599 4
Breast HCC1806 3.8
Breast HCC1937 3.9
Breast HCC1954 3.9
Breast HCC202 4
Breast HCC2157 3.9
Breast HCC2218 4
Breast HCC38 3.6
Breast HCC70 3.9
Breast HDQP1 3.8
Breast HMC18 4.1
Breast HS274T 3.9
Breast HS281T 3.9
Breast HS343T 3.9
Breast HS578T 3.9
Breast HS606T 3.8
Breast HS739T 3.8
Breast HS742T 4
Breast JIMT1 3.9
Breast KPL1 3.7
Breast MCF7 3.9
Breast MDAMB134VI 3.9
Breast MDAMB157 3.9
Breast MDAMB175VII 3.7
Breast MDAMB231 4
Breast MDAMB361 3.9
Breast MDAMB415 3.8
Breast MDAMB436 4
Breast MDAMB453 3.8
Breast MDAMB468 3.9
Breast SKBR3 3.9
Breast T47D 3.9
Breast UACC812 3.8
Breast UACC893 3.9
Breast YMB1 4.1
Breast ZR751 4.1
Breast ZR7530 3.8
Central nervous system 1321N1 3.9
Central nervous system 42MGBA 3.9
Central nervous system 8MGBA 3.7
Central nervous system A172 3.9
Central nervous system AM38 4
Central nervous system BECKER 3.8
Central nervous system CAS1 3.9
Central nervous system CCFSTTG1 3.9
Central nervous system D283MED 3.9
Central nervous system D341MED 4.1
Central nervous system DAOY 4.3
Central nervous system DBTRG05MG 3.7
Central nervous system DKMG 3.9
Central nervous system GAMG 3.9
Central nervous system GB1 3.7
Central nervous system GI1 4
Central nervous system GMS10 3.8
Central nervous system GOS3 4
Central nervous system H4 3.9
Central nervous system HS683 3.9
Central nervous system KALS1 3.7
Central nervous system KG1C 3.9
Central nervous system KNS42 3.8
Central nervous system KNS60 4
Central nervous system KNS81 3.8
Central nervous system KS1 3.8
Central nervous system LN18 3.9
Central nervous system LN229 3.9
Central nervous system M059K 3.9
Central nervous system MOGGCCM 3.9
Central nervous system MOGGUVW 3.8
Central nervous system NMCG1 3.6
Central nervous system ONS76 4
Central nervous system SF126 4
Central nervous system SF295 4
Central nervous system SNB19 3.8
Central nervous system SNU1105 3.9
Central nervous system SNU201 3.9
Central nervous system SNU466 3.9
Central nervous system SNU489 3.7
Central nervous system SNU626 3.9
Central nervous system SNU738 3.9
Central nervous system SW1088 3.8
Central nervous system SW1783 3.8
Central nervous system T98G 3.9
Central nervous system TM31 3.7
Central nervous system U118MG 3.6
Central nervous system U138MG 3.7
Central nervous system U251MG 3.8
Central nervous system U87MG 4
Central nervous system YH13 3.8
Central nervous system YKG1 3.7
Endometrium AN3CA 4
Endometrium COLO684 3.7
Endometrium EFE184 3.9
Endometrium EN 3.9
Endometrium ESS1 4
Endometrium HEC108 3.8
Endometrium HEC151 4
Endometrium HEC1A 3.9
Endometrium HEC1B 3.8
Endometrium HEC251 3.9
Endometrium HEC265 3.9
Endometrium HEC50B 3.9
Endometrium HEC59 3.8
Endometrium HEC6 3.9
Endometrium ISHIKAWAHERAKLIO02ER 4
Endometrium JHUEM1 4
Endometrium JHUEM2 3.8
Endometrium JHUEM3 3.7
Endometrium KLE 4
Endometrium MFE280 4.2
Endometrium MFE296 4
Endometrium MFE319 4.1
Endometrium RL952 4
Endometrium SNGM 3.8
Endometrium SNU1077 3.7
Endometrium SNU685 3.7
Endometrium TEN 3.8
Haematopoietic and lymphoid 697 7.4
Haematopoietic and lymphoid A3KAW 6.2
Haematopoietic and lymphoid A4FUK 6.9
Haematopoietic and lymphoid ALLSIL 7.7
Haematopoietic and lymphoid AML193 6.6
Haematopoietic and lymphoid AMO1 6.3
Haematopoietic and lymphoid BCP1 7.9
Haematopoietic and lymphoid BDCM 5
Haematopoietic and lymphoid BL41 8.1
Haematopoietic and lymphoid BL70 7.4
Haematopoietic and lymphoid BV173 5.9
Haematopoietic and lymphoid CA46 8.2
Haematopoietic and lymphoid CI1 6.8
Haematopoietic and lymphoid CMK115 5.7
Haematopoietic and lymphoid CMK86 6.5
Haematopoietic and lymphoid CMK 6.2
Haematopoietic and lymphoid CMLT1 7.6
Haematopoietic and lymphoid COLO775 4.8
Haematopoietic and lymphoid DAUDI 8
Haematopoietic and lymphoid DB 9
Haematopoietic and lymphoid DEL 6.7
Haematopoietic and lymphoid DND41 8.1
Haematopoietic and lymphoid DOHH2 8.3
Haematopoietic and lymphoid EB1 7.7
Haematopoietic and lymphoid EB2 7.9
Haematopoietic and lymphoid EHEB 4.2
Haematopoietic and lymphoid EJM 6.1
Haematopoietic and lymphoid EM2 6.7
Haematopoietic and lymphoid EOL1 7.3
Haematopoietic and lymphoid F36P 5.8
Haematopoietic and lymphoid GA10 7.9
Haematopoietic and lymphoid GDM1 7.2
Haematopoietic and lymphoid GRANTA519 7.7
Haematopoietic and lymphoid HDLM2 8
Haematopoietic and lymphoid HDMYZ 3.8
Haematopoietic and lymphoid HEL9217 5.6
Haematopoietic and lymphoid HEL 6.2
Haematopoietic and lymphoid HH 8.9
Haematopoietic and lymphoid HL60 7.4
Haematopoietic and lymphoid HPBALL 8.2
Haematopoietic and lymphoid HS604T 3.9
Haematopoietic and lymphoid HS611T 7.6
Haematopoietic and lymphoid HS616T 3.9
Haematopoietic and lymphoid HS751T 3.9
Haematopoietic and lymphoid HT 7.5
Haematopoietic and lymphoid HTK 3.9
Haematopoietic and lymphoid HUNS1 6.7
Haematopoietic and lymphoid HUT102 7.1
Haematopoietic and lymphoid HUT78 6.5
Haematopoietic and lymphoid JEKO1 8.6
Haematopoietic and lymphoid JK1 6.5
Haematopoietic and lymphoid JM1 7.8
Haematopoietic and lymphoid JURKAT 8
Haematopoietic and lymphoid JURLMK1 6
Haematopoietic and lymphoid JVM2 6.2
Haematopoietic and lymphoid JVM3 6.7
Haematopoietic and lymphoid K562 5.6
Haematopoietic and lymphoid KARPAS299 6.5
Haematopoietic and lymphoid KARPAS422 6.5
Haematopoietic and lymphoid KARPAS620 7.8
Haematopoietic and lymphoid KASUMI1 6.8
Haematopoietic and lymphoid KASUMI2 6.5
Haematopoietic and lymphoid KASUMI6 7.1
Haematopoietic and lymphoid KCL22 6.5
Haematopoietic and lymphoid KE37 7.7
Haematopoietic and lymphoid KE97 6.1
Haematopoietic and lymphoid KG1 6.9
Haematopoietic and lymphoid KHM1B 7.4
Haematopoietic and lymphoid KIJK 6.8
Haematopoietic and lymphoid KMH2 6.8
Haematopoietic and lymphoid KMM1 4.1
Haematopoietic and lymphoid KMS11 6.4
Haematopoietic and lymphoid KMS12BM 8.4
Haematopoietic and lymphoid KMS18 6.2
Haematopoietic and lymphoid KMS20 6.1
Haematopoietic and lymphoid KMS21BM 5.6
Haematopoietic and lymphoid KMS26 5.6
Haematopoietic and lymphoid KMS27 5.7
Haematopoietic and lymphoid KMS28BM 6.4
Haematopoietic and lymphoid KMS34 6.6
Haematopoietic and lymphoid KO52 7.3
Haematopoietic and lymphoid KOPN8 8.4
Haematopoietic and lymphoid KU812 6.9
Haematopoietic and lymphoid KYO1 6.7
Haematopoietic and lymphoid L1236 8
Haematopoietic and lymphoid L363 6.4
Haematopoietic and lymphoid L428 8.1
Haematopoietic and lymphoid L540 7.6
Haematopoietic and lymphoid LAMA84 5.9
Haematopoietic and lymphoid LOUCY 6.2
Haematopoietic and lymphoid LP1 6.1
Haematopoietic and lymphoid M07E 6.4
Haematopoietic and lymphoid MC116 8
Haematopoietic and lymphoid ME1 7.2
Haematopoietic and lymphoid MEC1 6.8
Haematopoietic and lymphoid MEC2 7.3
Haematopoietic and lymphoid MEG01 5.8
Haematopoietic and lymphoid MHHCALL2 6.7
Haematopoietic and lymphoid MHHCALL3 8.3
Haematopoietic and lymphoid MHHCALL4 8.3
Haematopoietic and lymphoid MINO 8.1
Haematopoietic and lymphoid MJ 7.8
Haematopoietic and lymphoid MM1S 7
Haematopoietic and lymphoid MOLM13 7.4
Haematopoietic and lymphoid MOLM16 7.4
Haematopoietic and lymphoid MOLM6 6.9
Haematopoietic and lymphoid MOLP2 5
Haematopoietic and lymphoid MOLP8 6
Haematopoietic and lymphoid MOLT13 8
Haematopoietic and lymphoid MOLT16 8.1
Haematopoietic and lymphoid MOLT4 8.8
Haematopoietic and lymphoid MONOMAC1 7.1
Haematopoietic and lymphoid MONOMAC6 7.1
Haematopoietic and lymphoid MOTN1 9
Haematopoietic and lymphoid MUTZ5 7.6
Haematopoietic and lymphoid MV411 7.9
Haematopoietic and lymphoid NALM19 8.3
Haematopoietic and lymphoid NALM1 7.5
Haematopoietic and lymphoid NALM6 6.6
Haematopoietic and lymphoid NAMALWA 7.8
Haematopoietic and lymphoid NB4 7.4
Haematopoietic and lymphoid NCIH929 5.8
Haematopoietic and lymphoid NCO2 6.2
Haematopoietic and lymphoid NOMO1 7.3
Haematopoietic and lymphoid NUDHL1 6
Haematopoietic and lymphoid NUDUL1 8.1
Haematopoietic and lymphoid OCIAML2 7.8
Haematopoietic and lymphoid OCIAML3 7.5
Haematopoietic and lymphoid OCIAML5 7.4
Haematopoietic and lymphoid OCILY10 6.7
Haematopoietic and lymphoid OCILY19 6.7
Haematopoietic and lymphoid OCILY3 7.4
Haematopoietic and lymphoid OCIM1 5.6
Haematopoietic and lymphoid OPM2 6.7
Haematopoietic and lymphoid P12ICHIKAWA 7.5
Haematopoietic and lymphoid P31FUJ 6.3
Haematopoietic and lymphoid P3HR1 7.8
Haematopoietic and lymphoid PCM6 7
Haematopoietic and lymphoid PEER 8
Haematopoietic and lymphoid PF382 7.4
Haematopoietic and lymphoid PFEIFFER 8.5
Haematopoietic and lymphoid PL21 7.4
Haematopoietic and lymphoid RAJI 6.8
Haematopoietic and lymphoid RCHACV 7.7
Haematopoietic and lymphoid REC1 8.1
Haematopoietic and lymphoid REH 6.9
Haematopoietic and lymphoid RI1 8.2
Haematopoietic and lymphoid RL 8.1
Haematopoietic and lymphoid RPMI8226 6.7
Haematopoietic and lymphoid RPMI8402 7.7
Haematopoietic and lymphoid RS411 7.8
Haematopoietic and lymphoid SEM 6.8
Haematopoietic and lymphoid SET2 6.8
Haematopoietic and lymphoid SIGM5 7.8
Haematopoietic and lymphoid SKM1 6.5
Haematopoietic and lymphoid SKMM2 6.4
Haematopoietic and lymphoid SR786 7.5
Haematopoietic and lymphoid ST486 7.2
Haematopoietic and lymphoid SUDHL10 7.6
Haematopoietic and lymphoid SUDHL1 7.1
Haematopoietic and lymphoid SUDHL4 8.2
Haematopoietic and lymphoid SUDHL5 7.9
Haematopoietic and lymphoid SUDHL6 8
Haematopoietic and lymphoid SUDHL8 7.5
Haematopoietic and lymphoid SUPB15 8.2
Haematopoietic and lymphoid SUPHD1 7.4
Haematopoietic and lymphoid SUPM2 6.5
Haematopoietic and lymphoid SUPT11 8.8
Haematopoietic and lymphoid SUPT1 7.3
Haematopoietic and lymphoid TALL1 7.6
Haematopoietic and lymphoid TF1 6.3
Haematopoietic and lymphoid THP1 6.5
Haematopoietic and lymphoid TO175T 4
Haematopoietic and lymphoid TOLEDO 7.8
Haematopoietic and lymphoid U266B1 6
Haematopoietic and lymphoid U937 6.2
Haematopoietic and lymphoid UT7 6.1
Haematopoietic and lymphoid WSUDLCL2 8.2
Kidney 769P 3.8
Kidney 786O 4
Kidney A498 4
Kidney A704 4
Kidney ACHN 3.9
Kidney BFTC909 3.8
Kidney CAKI1 4.2
Kidney CAKI2 3.9
Kidney CAL54 3.8
Kidney KMRC1 3.9
Kidney KMRC20 3.8
Kidney KMRC2 4
Kidney KMRC3 3.9
Kidney OSRC2 3.9
Kidney RCC10RGB 4
Kidney SNU1272 3.7
Kidney SNU349 3.8
Kidney TUHR10TKB 3.6
Kidney TUHR14TKB 4
Kidney TUHR4TKB 3.7
Kidney VMRCRCW 4.1
Kidney VMRCRCZ 3.9
Large intestine C2BBE1 3.9
Large intestine CCK81 3.8
Large intestine CL11 3.7
Large intestine CL14 3.8
Large intestine CL34 3.8
Large intestine CL40 3.8
Large intestine COLO205 3.9
Large intestine COLO320 3.9
Large intestine COLO678 3.8
Large intestine CW2 3.8
Large intestine DLD1 4
Large intestine GP2D 4.1
Large intestine HCC56 3.9
Large intestine HCT116 3.8
Large intestine HCT15 4
Large intestine HS675T 3.9
Large intestine HS698T 3.8
Large intestine HT115 3.7
Large intestine HT29 3.9
Large intestine HT55 3.9
Large intestine KM12 4.1
Large intestine LOVO 3.8
Large intestine LS1034 3.8
Large intestine LS123 3.8
Large intestine LS180 3.9
Large intestine LS411N 3.9
Large intestine LS513 4
Large intestine MDST8 3.8
Large intestine NCIH508 4.1
Large intestine NCIH716 4
Large intestine NCIH747 3.9
Large intestine OUMS23 3.8
Large intestine RCM1 3.9
Large intestine RKO 4
Large intestine SKCO1 3.8
Large intestine SNU1040 3.9
Large intestine SNU1197 3.7
Large intestine SNU175 4.7
Large intestine SNU283 4
Large intestine SNU407 3.9
Large intestine SNU503 4
Large intestine SNU61 3.8
Large intestine SNU81 3.8
Large intestine SNUC1 4.2
Large intestine SNUC2A 3.9
Large intestine SNUC4 3.8
Large intestine SNUC5 3.8
Large intestine SW1116 4.1
Large intestine SW1417 3.9
Large intestine SW1463 3.8
Large intestine SW403 3.8
Large intestine SW480 4.1
Large intestine SW48 3.9
Large intestine SW620 3.8
Large intestine SW837 3.8
Large intestine SW948 3.7
Large intestine T84 3.8
Liver ALEXANDERCELLS 3.9
Liver C3A 3.9
Liver HEP3B217 3.9
Liver HEPG2 4
Liver HLE 3.9
Liver HLF 3.8
Liver HUH1 4.1
Liver HUH6 3.7
Liver HUH7 3.9
Liver JHH1 4
Liver JHH2 3.8
Liver JHH4 3.7
Liver JHH5 4
Liver JHH6 3.9
Liver JHH7 4
Liver LI7 3.7
Liver PLCPRF5 3.9
Liver SKHEP1 3.8
Liver SNU182 3.9
Liver SNU387 4
Liver SNU398 3.9
Liver SNU423 3.9
Liver SNU449 4
Liver SNU475 3.8
Liver SNU761 3.7
Liver SNU878 3.9
Liver SNU886 3.8
Lung A549 3.9
Lung ABC1 3.8
Lung BEN 3.9
Lung CAL12T 3.9
Lung CALU1 3.9
Lung CALU3 3.9
Lung CALU6 4.1
Lung CHAGOK1 4.1
Lung COLO668 3.7
Lung COLO699 3.8
Lung CORL105 3.8
Lung CORL23 4
Lung CORL24 3.7
Lung CORL279 3.5
Lung CORL311 4
Lung CORL47 3.9
Lung CORL51 3.8
Lung CORL88 3.8
Lung CORL95 3.8
Lung CPCN 4
Lung DMS114 3.8
Lung DMS153 3.7
Lung DMS273 3.9
Lung DMS454 3.8
Lung DMS53 3.9
Lung DMS79 4
Lung DV90 3.9
Lung EBC1 3.8
Lung EPLC272H 4.1
Lung HARA 4
Lung HCC1171 3.8
Lung HCC1195 3.9
Lung HCC15 4
Lung HCC2279 3.8
Lung HCC2935 3.7
Lung HCC33 3.8
Lung HCC366 3.8
Lung HCC4006 3.8
Lung HCC44 4
Lung HCC78 3.9
Lung HCC827 3.8
Lung HCC95 3.9
Lung HLC1 3.8
Lung HLFA 3.9
Lung HS229T 3.8
Lung HS618T 3.9
Lung IALM 3.8
Lung KNS62 4
Lung LC1F 4.2
Lung LC1SQSF 4
Lung LCLC103H 3.8
Lung LCLC97TM1 3.8
Lung LK2 4.1
Lung LOUNH91 3.8
Lung LU65 4.1
Lung LU99 4
Lung LUDLU1 3.7
Lung LXF289 3.8
Lung MORCPR 3.9
Lung NCIH1048 3.8
Lung NCIH1092 3.9
Lung NCIH1105 3.8
Lung NCIH1155 3.6
Lung NCIH1184 3.8
Lung NCIH1299 3.9
Lung NCIH1339 3.8
Lung NCIH1341 3.9
Lung NCIH1355 3.9
Lung NCIH1373 3.9
Lung NCIH1385 3.8
Lung NCIH1395 3.9
Lung NCIH1435 3.9
Lung NCIH1436 5.8
Lung NCIH1437 3.9
Lung NCIH146 3.9
Lung NCIH1563 3.9
Lung NCIH1568 3.8
Lung NCIH1573 4
Lung NCIH1581 3.8
Lung NCIH1618 3.7
Lung NCIH1623 3.9
Lung NCIH1648 3.8
Lung NCIH1650 3.8
Lung NCIH1651 4
Lung NCIH1666 3.9
Lung NCIH1693 3.8
Lung NCIH1694 3.9
Lung NCIH1703 3.8
Lung NCIH1734 3.8
Lung NCIH1755 3.9
Lung NCIH1781 3.8
Lung NCIH1792 3.9
Lung NCIH1793 3.8
Lung NCIH1836 3.8
Lung NCIH1838 3.8
Lung NCIH1869 3.9
Lung NCIH1876 4
Lung NCIH1915 3.8
Lung NCIH1930 3.8
Lung NCIH1944 3.8
Lung NCIH1963 3.8
Lung NCIH196 3.8
Lung NCIH1975 3.9
Lung NCIH2009 3.8
Lung NCIH2023 3.8
Lung NCIH2029 3.9
Lung NCIH2030 3.9
Lung NCIH2066 3.9
Lung NCIH2081 3.8
Lung NCIH2085 4.1
Lung NCIH2087 4
Lung NCIH209 3.7
Lung NCIH2106 3.7
Lung NCIH2110 3.9
Lung NCIH211 4
Lung NCIH2122 4
Lung NCIH2126 3.7
Lung NCIH2141 3.7
Lung NCIH2170 4
Lung NCIH2171 3.9
Lung NCIH2172 3.9
Lung NCIH2196 3.9
Lung NCIH2227 3.8
Lung NCIH2228 3.9
Lung NCIH226 4
Lung NCIH2286 3.8
Lung NCIH2291 4
Lung NCIH2342 4
Lung NCIH2347 3.9
Lung NCIH23 3.9
Lung NCIH2405 3.8
Lung NCIH2444 4.1
Lung NCIH292 3.7
Lung NCIH322 4.2
Lung NCIH3255 3.7
Lung NCIH358 4
Lung NCIH441 3.9
Lung NCIH446 4
Lung NCIH460 3.8
Lung NCIH510 4
Lung NCIH520 3.9
Lung NCIH522 4
Lung NCIH524 3.8
Lung NCIH526 3.8
Lung NCIH596 3.9
Lung NCIH647 3.9
Lung NCIH650 3.9
Lung NCIH661 3.8
Lung NCIH69 3.9
Lung NCIH727 3.7
Lung NCIH810 3.9
Lung NCIH82 3.9
Lung NCIH838 3.8
Lung NCIH841 3.9
Lung NCIH854 3.9
Lung NCIH889 3.8
Lung PC14 3.8
Lung RERFLCAD1 3.8
Lung RERFLCAD2 3.9
Lung RERFLCAI 3.9
Lung RERFLCKJ 3.9
Lung RERFLCMS 3.9
Lung RERFLCSQ1 3.8
Lung SBC5 4.1
Lung SCLC21H 4.1
Lung SHP77 4
Lung SKLU1 4
Lung SKMES1 3.9
Lung SQ1 4.1
Lung SW1271 3.9
Lung SW1573 3.8
Lung SW900 3.9
Lung VMRCLCD 3.8
Lung VMRCLCP 3.8
Oesophagus COLO680N 3.7
Oesophagus ECGI10 4.1
Oesophagus KYSE140 3.8
Oesophagus KYSE150 3.9
Oesophagus KYSE180 4
Oesophagus KYSE270 4.2
Oesophagus KYSE30 4
Oesophagus KYSE410 4
Oesophagus KYSE450 4.2
Oesophagus KYSE510 4
Oesophagus KYSE520 3.8
Oesophagus KYSE70 4.1
Oesophagus OE19 3.9
Oesophagus OE33 3.8
Oesophagus TE10 4
Oesophagus TE11 3.9
Oesophagus TE14 3.8
Oesophagus TE15 3.7
Oesophagus TE1 3.7
Oesophagus TE4 4
Oesophagus TE5 3.9
Oesophagus TE6 3.9
Oesophagus TE8 3.6
Oesophagus TE9 3.8
Oesophagus TT 4
Ovary 59M 3.8
Ovary A2780 3.8
Ovary CAOV3 4.1
Ovary CAOV4 4.4
Ovary COLO704 4
Ovary COV318 4.3
Ovary COV362 3.9
Ovary COV434 3.9
Ovary COV504 3.8
Ovary COV644 3.9
Ovary EFO21 3.9
Ovary EFO27 3.9
Ovary ES2 4
Ovary FUOV1 3.9
Ovary HEYA8 3.9
Ovary HS571T 4
Ovary IGROV1 3.8
Ovary JHOC5 3.8
Ovary JHOM1 3.7
Ovary JHOM2B 3.7
Ovary JHOS2 4.1
Ovary JHOS4 3.9
Ovary KURAMOCHI 3.7
Ovary MCAS 3.9
Ovary NIHOVCAR3 3.8
Ovary OAW28 3.9
Ovary OAW42 4
Ovary OC314 4
Ovary OC316 4
Ovary ONCODG1 3.8
Ovary OV56 4.1
Ovary OV7 3.9
Ovary OV90 3.9
Ovary OVCAR4 3.7
Ovary OVCAR8 3.8
Ovary OVISE 3.9
Ovary OVK18 3.9
Ovary OVKATE 4.1
Ovary OVMANA 4.1
Ovary OVSAHO 4
Ovary OVTOKO 4
Ovary RMGI 4
Ovary RMUGS 4.1
Ovary SKOV3 3.9
Ovary SNU119 4.2
Ovary SNU840 3.8
Ovary SNU8 4.1
Ovary TOV112D 3.9
Ovary TOV21G 3.8
Ovary TYKNU 3.9
Pancreas ASPC1 3.9
Pancreas BXPC3 3.9
Pancreas CAPAN1 3.8
Pancreas CAPAN2 3.8
Pancreas CFPAC1 3.9
Pancreas DANG 3.7
Pancreas HPAC 3.9
Pancreas HPAFII 4.1
Pancreas HS766T 3.9
Pancreas HUPT3 3.9
Pancreas HUPT4 3.9
Pancreas KCIMOH1 3.9
Pancreas KLM1 3.7
Pancreas KP2 4.1
Pancreas KP3 3.9
Pancreas KP4 3.7
Pancreas L33 3.8
Pancreas MIAPACA2 3.8
Pancreas PANC0203 3.9
Pancreas PANC0213 3.9
Pancreas PANC0327 3.8
Pancreas PANC0403 3.9
Pancreas PANC0504 4
Pancreas PANC0813 4
Pancreas PANC1005 3.9
Pancreas PANC1 4
Pancreas PATU8902 3.9
Pancreas PATU8988S 4
Pancreas PATU8988T 3.9
Pancreas PK1 3.9
Pancreas PK45H 3.9
Pancreas PK59 3.9
Pancreas PL45 4
Pancreas PSN1 3.8
Pancreas QGP1 3.7
Pancreas SNU213 3.7
Pancreas SNU324 3.9
Pancreas SNU410 3.9
Pancreas SU8686 3.8
Pancreas SUIT2 3.9
Pancreas SW1990 3.9
Pancreas T3M4 4
Pancreas TCCPAN2 4
Pancreas YAPC 5.1
Pleura ACCMESO1 3.8
Pleura DM3 3.8
Pleura ISTMES1 4
Pleura ISTMES2 4
Pleura JL1 3.9
Pleura MPP89 4
Pleura MSTO211H 4
Pleura NCIH2052 3.8
Pleura NCIH2452 3.9
Pleura NCIH28 4.2
Prostate 22RV1 3.7
Prostate DU145 3.8
Prostate LNCAPCLONEFGC 3.9
Prostate MDAPCA2B 3.7
Prostate NCIH660 4
Prostate PC3 3.9
Prostate VCAP 3.8
Salivary gland A253 3.8
Salivary gland YD15 3.9
Skin A101D 3.9
Skin A2058 3.6
Skin A375 3.7
Skin C32 3.8
Skin CHL1 3.8
Skin CJM 3.8
Skin COLO679 3.7
Skin COLO741 3.9
Skin COLO783 4
Skin COLO792 3.9
Skin COLO800 3.9
Skin COLO818 3.8
Skin COLO829 3.8
Skin COLO849 3.9
Skin G361 3.8
Skin GRM 3.8
Skin HMCB 3.7
Skin HS294T 3.9
Skin HS600T 3.9
Skin HS688AT 3.9
Skin HS695T 3.8
Skin HS839T 3.8
Skin HS852T 3.8
Skin HS895T 3.9
Skin HS934T 3.9
Skin HS936T 4
Skin HS939T 3.8
Skin HS940T 3.8
Skin HS944T 4
Skin HT144 3.8
Skin IGR1 3.9
Skin IGR37 3.8
Skin IGR39 3.9
Skin IPC298 4
Skin K029AX 3.8
Skin LOXIMVI 3.9
Skin MALME3M 3.9
Skin MDAMB435S 3.9
Skin MELHO 3.8
Skin MELJUSO 3.9
Skin MEWO 3.9
Skin RPMI7951 3.9
Skin RVH421 3.9
Skin SH4 3.8
Skin SKMEL1 4
Skin SKMEL24 3.8
Skin SKMEL28 3.8
Skin SKMEL2 3.9
Skin SKMEL30 3.9
Skin SKMEL31 3.8
Skin SKMEL3 3.9
Skin SKMEL5 3.9
Skin UACC257 4
Skin UACC62 4
Skin WM115 3.8
Skin WM1799 3.8
Skin WM2664 3.8
Skin WM793 3.8
Skin WM88 3.9
Skin WM983B 3.9
Small intestine HUTU80 3.9
Soft tissue A204 3.8
Soft tissue G401 3.8
Soft tissue G402 4
Soft tissue GCT 4
Soft tissue HS729 3.8
Soft tissue HT1080 3.9
Soft tissue KYM1 3.9
Soft tissue MESSA 4.1
Soft tissue RD 3.7
Soft tissue RH30 3.7
Soft tissue RH41 3.9
Soft tissue RKN 4
Soft tissue S117 4
Soft tissue SJRH30 4.1
Soft tissue SKLMS1 3.8
Soft tissue SKUT1 3.9
Soft tissue TE125T 3.9
Soft tissue TE159T 3.9
Soft tissue TE441T 4
Soft tissue TE617T 3.9
Stomach 2313287 3.8
Stomach AGS 3.9
Stomach AZ521 3.8
Stomach ECC10 3.7
Stomach ECC12 3.6
Stomach FU97 4.2
Stomach GCIY 3.8
Stomach GSS 3.7
Stomach GSU 3.8
Stomach HGC27 3.9
Stomach HS746T 3.9
Stomach HUG1N 3.9
Stomach IM95 3.8
Stomach KATOIII 3.9
Stomach KE39 3.9
Stomach LMSU 3.8
Stomach MKN1 3.9
Stomach MKN45 3.9
Stomach MKN74 3.9
Stomach MKN7 3.9
Stomach NCCSTCK140 3.8
Stomach NCIN87 3.9
Stomach NUGC2 3.8
Stomach NUGC3 4.1
Stomach NUGC4 3.9
Stomach OCUM1 4
Stomach RERFGC1B 3.8
Stomach SH10TC 3.9
Stomach SNU16 4
Stomach SNU1 3.9
Stomach SNU216 4
Stomach SNU520 3.8
Stomach SNU5 4.1
Stomach SNU601 3.6
Stomach SNU620 3.8
Stomach SNU668 3.7
Stomach SNU719 3.9
Stomach TGBC11TKB 3.8
Thyroid 8305C 3.8
Thyroid 8505C 3.8
Thyroid BCPAP 3.9
Thyroid BHT101 3.7
Thyroid CAL62 3.8
Thyroid CGTHW1 3.8
Thyroid FTC133 3.8
Thyroid FTC238 3.9
Thyroid ML1 3.8
Thyroid SW579 3.9
Thyroid TT2609C02 3.8
Thyroid TT 4.3
Upper aerodigestive tract BHY 3.8
Upper aerodigestive tract BICR16 3.9
Upper aerodigestive tract BICR18 4.3
Upper aerodigestive tract BICR22 4
Upper aerodigestive tract BICR31 3.8
Upper aerodigestive tract BICR56 4
Upper aerodigestive tract BICR6 3.9
Upper aerodigestive tract CAL27 3.9
Upper aerodigestive tract CAL33 3.7
Upper aerodigestive tract DETROIT562 3.9
Upper aerodigestive tract FADU 4.2
Upper aerodigestive tract HS840T 3.9
Upper aerodigestive tract HSC2 3.8
Upper aerodigestive tract HSC3 4.1
Upper aerodigestive tract HSC4 3.9
Upper aerodigestive tract PECAPJ15 4
Upper aerodigestive tract PECAPJ34CLONEC12 3.9
Upper aerodigestive tract PECAPJ41CLONED2 3.9
Upper aerodigestive tract PECAPJ49 4
Upper aerodigestive tract SCC15 4
Upper aerodigestive tract SCC25 3.9
Upper aerodigestive tract SCC4 3.9
Upper aerodigestive tract SCC9 3.9
Upper aerodigestive tract SNU1076 4
Upper aerodigestive tract SNU1214 3.7
Upper aerodigestive tract SNU46 3.9
Upper aerodigestive tract SNU899 3.9
Upper aerodigestive tract YD10B 3.9
Upper aerodigestive tract YD38 3.9
Upper aerodigestive tract YD8 4
Urinary tract 5637 4
Urinary tract 639V 3.9
Urinary tract 647V 3.8
Urinary tract BC3C 3.8
Urinary tract BFTC905 3.9
Urinary tract CAL29 3.8
Urinary tract HS172T 3.8
Urinary tract HT1197 3.9
Urinary tract HT1376 3.8
Urinary tract J82 3.9
Urinary tract JMSU1 3.8
Urinary tract KMBC2 3.8
Urinary tract KU1919 3.8
Urinary tract RT11284 3.9
Urinary tract RT112 3.7
Urinary tract RT4 3.9
Urinary tract SCABER 3.9
Urinary tract SW1710 3.9
Urinary tract SW780 3.9
Urinary tract T24 4
Urinary tract TCCSUP 3.8
Urinary tract UMUC1 3.8
Urinary tract UMUC3 4
Urinary tract VMCUB1 3.9
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 5
Adrenal gland 3.2
Appendix 55.9
Bone marrow 37.7
Breast 4.4
Cerebral cortex 3
Cervix, uterine 4.5
Colon 5.8
Duodenum 5.5
Endometrium 3.5
Epididymis 1.9
Esophagus 3.9
Fallopian tube 2.8
Gallbladder 10.7
Heart muscle 0.8
Kidney 1
Liver 2.1
Lung 14.1
Lymph node 84
Ovary 1.6
Pancreas 0.1
Parathyroid gland 0.9
Placenta 4.5
Prostate 3.1
Rectum 6.5
Salivary gland 1.8
Seminal vesicle 2.1
Skeletal muscle 0.3
Skin 1.8
Small intestine 10.7
Smooth muscle 5.3
Spleen 55
Stomach 7.6
Testis 2.2
Thyroid gland 1.6
Tonsil 58
Urinary bladder 13.9
> Text Mining based Expression
 
PMID Expression Cancer Evidence
27604872OverexpressionAcute Myeloid LeukemiaAt last, we show that ETV6 and IKZF1 expression levels are positively correlated with expression of a number of heptad genes in AML and high expression of all nine genes confers poorer overall prognosis.
27294874OverexpressionAcute Myeloid LeukemiaLEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.
27067989Loss of expressionB Acute Lymphoblastic LeukemiaPrognostic impact of IKZF1 deletion in adults with common B-cell acute lymphoblastic leukemia. Deletions in IKZF1 were detected using multiplex RQ-PCR, multiplex fluorescent PCR, sequence analysis and multiplex ligation-dependent probe amplification (MLPA). These data suggest IKZF1 deletion may be a useful prognostic variable in adults with common B-cell ALL, especially in persons without BCR-ABL1 and those receiving chemotherapy-only.
25655195Mutation; UnderexpressionT Acute Lymphoblastic LeukemiaActivating NOTCH1 mutations occur in ~60% of human T-cell acute lymphoblastic leukemias (T-ALLs), and mutations disrupting the transcription factor IKZF1 (IKAROS) occur in ~5% of cases. Furthermore, we find that IKAROS mRNA expression is significantly reduced in a cohort of primary human T-ALL patient samples with activating NOTCH1/FBXW7 mutations, but is upregulated upon acute inhibition of aberrant NOTCH signaling across a panel of human T-ALL cell lines.
25370416Underexpression; Loss of expressionChronic Myeloid LeukemiaHere, we report that IKAROS protein is absent or reduced in bone marrow blasts from most CML patients with advanced myeloid disease (AP or BC).
25331116Mutation; UnderexpressionAcute Lymphoblastic LeukemiaResults confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and identify new recurrent mutations in splicing factors (5/12 AMLs in SF3B1 and 2/12 AMLs in U2AF1), IKZF1 (3/12 AMLs), and TP53 (3/12 AMLs). Moreover IKZF1 expression is halved in monosomy 7 leukemias.
23521501Loss of expressionPh-like Acute Lymphoblastic LeukemiaSurprisingly, loss of the IKZF1 and/or CDKN2A genes, the hallmark of Ph(+)ALL, were recurrent findings in Ph(+)AML and accompanied cryptic deletions within the immunoglobulin and T cell receptor genes.
22997141Loss of expressionChildhood B Acute Lymphoblastic LeukemiaWe simultaneously detected IKZF1 gene deletions by multiplex ligation-dependent probe amplification and gene expression of IKZF1 isoforms in 206 children with BCR/ABL-negative ALL treated with ALL IC-BFM 2002 protocol, in which risk stratification was not based on minimal residual disease (MRD), and validated the results on a cohort of 189 patients treated with MRD-directed ALL-BFM 2000 protocol. Deletion of IKZF1 was present in 14 of 206 (7%) ALL IC patients. IKZF1 deletions significantly affected event-free survival (EFS) of the ALL IC cohort (41±14% vs. 86±3%, P<0.0001).
22848414UnderexpressionB Acute Lymphoblastic LeukemiaDeletions of IKAROS (IKZF1) frequently occur in B-cell precursor acute lymphoblastic leukemia (B-ALL) but the mechanisms by which they influence pathogenesis are unclear. Total or partial deletions of IKZF1 were more frequent in BCR-ABL1-positive than in BCR-ABL1-negative B-ALL cases (75% vs 58%, respectively, p=0.04). Comparison of the gene expression signatures of patients carrying IKZF1 deletion vs those without showed a unique signature featured by down-regulation of B-cell lineage and DNA repair genes and up-regulation of genes involved in cell cycle, JAK-STAT signalling and stem cell self-renewal.
22441210Loss of expressionAcute Lymphoblastic LeukemiaIn total, 50% of DS ALL patients had ≥1 deletion in the B-cell development genes: PAX5 (12%), VPREB1 (18%) and IKZF1 (35%). This IKZF1 deletion was a strong independent predictor for outcome (hazard ratio EFS 3.05; P=0.001).
22237106UnderexpressionT Acute Lymphoblastic LeukemiaETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300).
22110503Loss of expressionAcute Lymphoblastic LeukemiaIn Philadelphia-positive ALL, deletions of the IKZF1 gene were identified as prognostically adverse factors.
21740479Loss of expressionB Acute Lymphoblastic LeukemiaIKZF1 deletions predict a poor prognosis in children with B-cell progenitor acute lymphoblastic leukemia: a multicenter analysis in Taiwan. Recent genome-wide analyses have identified that an alteration of IKZF1 is associated with very poor outcomes in B-cell progenitor ALL.
21383526OverexpressionEctopic ACTH Secretion SyndromePOMC and CRHR1 mRNA levels in CD were far greater than those in EAS, whereas IKZF1, PC2, SSTR-2 and -5 mRNA levels in EAS were significantly greater than those in CD. In conclusion, differential gene expression profiles revealed more abundant mRNA expression in EAS than in CD of 1) IKZF1 with its potential implication of cell differentiation and hormone secretion, 2) PC2 with its possible enhanced processing activity of mature ACTH, and 3) SSTR-2 and -5 with their potential therapeutic application of more selective agonists in EAS patients.
21356189Loss of expressionB Acute Lymphoblastic Leukemia; T Acute Lymphoblastic LeukemiaThese typically included deletions in genes associated with B- or T-cell malignancies, such as CDKN2A/B, PAX5, and IKZF1.
20729815Loss of expressionAcute lYmphoblastic LeukemiaGene expression was correlated with cytogenetic and molecular characteristics, including presence of ABL1 mutations and IKZF1 deletion.
20699438Loss of expressionB Acute Lymphoblastic LeukemiaA second cluster, characterized by high expression of BMPR1B, CRLF2, GPR110, and MUC4; frequent deletion of EBF1, IKZF1, RAG1-2, and IL3RA-CSF2RA; JAK mutations and CRLF2 rearrangements (P < .0001); and Hispanic ethnicity (P < .001) had a very poor 4-year relapse-free survival (21.0% ± 9.5%; P < .001).
20570445Loss of expressionAcute Lymphoblastic LeukemiaIn a high proportion of Philadelphia positive acute lymphoblastic leukaemia (ALL) patients, prognostically adverse deletions of the IKZF1 gene coding for a specific transcription factor were identified with GEP analysis, which revealed new insights in the clinical variability of this disorder.
20508609Loss of expressionMyeloproliferative NeoplasmIKZF1 deletions were observed in both undifferentiated and differentiated myeloid cell types, indicating that IKZF1 loss does not cause differentiation arrest but rather renders progenitors susceptible to transformation, most likely through chromosomal instability. Thus, IKZF1 loss is an important step in the leukemic transformation of a subpopulation of MPN patients.
20237506Loss of expressionChildhood Acute Lymphoblastic LeukemiaNo single aberration was linked to relapse, but four deletions, involving IKZF1, PAX5, CDKN2A/B or AK3, were recurrent.
20082691Loss of expression (copy number loss)Chronic Myeloid LeukemiaWe found a unique signature of genome deletions within the immunoglobulin heavy chain (IGH) and T cell receptor regions (TCR), frequently accompanied by concomitant loss of sequences within the short arm regions of chromosomes 7 and 9, including IKZF1, HOXA7, CDKN2A/2B, MLLT3, IFNA/B, RNF38, PAX5, JMJD2C and PDCD1LG2 genes. Notably, the coincidental deletions at IGH and TCR regions appear to precede the loss of IKZF1 and/or p16 genes in CML indicating a possible involvement of RAG in these deletions.
28052520OverexpressionMultiple MyelomaInterestingly, IKZF1 expression was elevated in BM environmental cells and thus selected for further investigation by multicolor flow cytometry. High IKAROS protein levels in total BM mononuclear cells (median OS 83.4 vs. 32.2 months, P=.02), CD19+B cells (median OS 71.1 vs. 32.2 months, P=.05), CD3+CD8+T cells (median OS 83.4 vs 19.0 months, P=.008) as well as monocytes (median OS 53.9 vs 18.0 months, P=.009) were associated with superior overall survival (OS).
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Somatic copy number alteration in primary tomur tissue
> The Cancer Genome Atlas (TCGA)
 


  Correlation between expression and SCNA as well as percentage of patients in different status.
Cancer Full Name # Sample R P % Loss % Neutral % Gain Status
BLCABladder urothelial carcinoma4040.030.5455.75143.3Gain
BRCABreast invasive carcinoma1075-0.0280.3659.460.330.3Neutral
CESCCervical and endocervical cancers2920.0370.5258.277.414.4Neutral
COADColon adenocarcinoma449-0.1992.22e-050.244.855Gain
ESCAEsophageal carcinoma183-0.1070.1517.730.162.3Gain
GBMGlioblastoma multiforme1470.0430.602021.878.2Gain
HNSCHead and Neck squamous cell carcinoma514-0.2052.95e-064.75837.4Gain
KIRCKidney renal clear cell carcinoma525-0.050.2540.46732.6Neutral
KIRPKidney renal papillary cell carcinoma288-0.0980.09610.339.959.7Gain
LAMLAcute Myeloid Leukemia1660.347.19e-06990.40.6Neutral
LGGBrain Lower Grade Glioma5130.1490.0006861.276.222.6Neutral
LIHCLiver hepatocellular carcinoma364-0.130.01334.765.929.4Neutral
LUADLung adenocarcinoma512-0.1891.69e-056.841.252Gain
LUSCLung squamous cell carcinoma498-0.1120.012514.138.247.8Gain
OVOvarian serous cystadenocarcinoma3000.0690.23722.347.330.3Neutral
PAADPancreatic adenocarcinoma177-0.3355.03e-062.368.429.4Neutral
PCPGPheochromocytoma and Paraganglioma162-0.0540.496082.717.3Neutral
PRADProstate adenocarcinoma491-0.0730.1062.47819.6Neutral
READRectum adenocarcinoma164-0.1910.01430.63663.4Gain
SARCSarcoma2550.0490.43312.257.630.2Neutral
SKCMSkin Cutaneous Melanoma367-0.20.0001116.339.554.2Gain
STADStomach adenocarcinoma413-0.2626.88e-082.248.948.9Gain
TGCTTesticular Germ Cell Tumors150-0.1720.0357216.781.3Gain
THCAThyroid carcinoma497-0.0770.0869096.43.6Neutral
THYMThymoma119-0.1170.2062.584.912.6Neutral
UCECUterine Corpus Endometrial Carcinoma537-0.0630.143877.514.5Neutral
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Methylation level in the promoter region of CR
> Methylation level in the promoter region of CR
 


  Correlation between expression and methylation as well as differential methylation analysis.
Cancer Full Name R P # N # T Delta beta (T vs N) P value (T vs N) Status
BLCABladder urothelial carcinoma-0.1955.25e-05174080.2071.47e-07Increased
BRCABreast invasive carcinoma-0.2581.32e-14837850.0171.25e-28NS/NA
CESCCervical and endocervical cancers-0.2294.97e-053306NANANS/NA
COADColon adenocarcinoma-0.4940192970.21.26e-13NS/NA
ESCAEsophageal carcinoma-0.1360.05869185NANANS/NA
GBMGlioblastoma multiforme-0.2940.0177164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.2343.95e-08205220.2684.94e-13Increased
KIRCKidney renal clear cell carcinoma-0.491024319-0.2435.33e-39Decreased
KIRPKidney renal papillary cell carcinoma-0.485023275-0.1291.76e-12NS/NA
LAMLAcute Myeloid Leukemia-0.2530.0009040170NANANS/NA
LGGBrain Lower Grade Glioma-0.3491.45e-160530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.1820.000203413730.2523.85e-59Increased
LUADLung adenocarcinoma-0.1798.42e-05214560.2372.75e-17Increased
LUSCLung squamous cell carcinoma-0.0710.1698370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.5670.12109NANANS/NA
PAADPancreatic adenocarcinoma-0.452.33e-104179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.2190.002683184NANANS/NA
PRADProstate adenocarcinoma-0.3870354980.3321.1e-18Increased
READRectum adenocarcinoma-0.3710.000147299NANANS/NA
SARCSarcoma-0.2456.24e-050263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.3143.82e-121471NANANS/NA
STADStomach adenocarcinoma-0.40700372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.65100156NANANS/NA
THCAThyroid carcinoma-0.711050509-0.0080.76NS/NA
THYMThymoma-0.88802120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.1450.0016834431-0.256.94e-48Decreased
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Primary tumor tissue from TCGA
> Normal tumor tissue from HPA
>The Cancer Genome Atlas (TCGA)
 
There is no record.
> The Human Protein Atlas (HPA)
 


Tissue Level Level Name
Adrenal gland 0 Not detected
Appendix 1 Low
Bone marrow 2 Medium
Breast 0 Not detected
Bronchus 0 Not detected
Caudate 0 Not detected
Cerebellum 0 Not detected
Cerebral cortex 0 Not detected
Cervix, uterine 0 Not detected
Colon 0 Not detected
Duodenum 0 Not detected
Endometrium 0 Not detected
Epididymis 0 Not detected
Esophagus 0 Not detected
Fallopian tube 0 Not detected
Gallbladder 0 Not detected
Heart muscle 0 Not detected
Hippocampus 0 Not detected
Kidney 0 Not detected
Liver 0 Not detected
Lung 0 Not detected
Lymph node 2 Medium
Nasopharynx 0 Not detected
Oral mucosa 0 Not detected
Ovary 0 Not detected
Pancreas 0 Not detected
Parathyroid gland 0 Not detected
Placenta 0 Not detected
Prostate 0 Not detected
Rectum 0 Not detected
Salivary gland 0 Not detected
Seminal vesicle 0 Not detected
Skeletal muscle 0 Not detected
Skin 0 Not detected
Small intestine 0 Not detected
Smooth muscle 0 Not detected
Soft tissue 0 Not detected
Spleen 2 Medium
Stomach 0 Not detected
Testis 0 Not detected
Thyroid gland 0 Not detected
Tonsil 2 Medium
Urinary bladder 0 Not detected
Vagina 0 Not detected
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Association between expresson and subtype
> Overall survival analysis based on expression
> Association between expresson and stage
> Association between expresson and grade
> Subtype
 


  Association between expresson and subtype.
Cancer Full Name # Patients P Value (Kruskal-Wallis) Association Source
BLCABladder urothelial carcinoma1280.0308Significant24476821
BRCABreast invasive carcinoma5216.97e-05Significant23000897
COADColon adenocarcinoma1491.06e-06Significant22810696
GBMGlioblastoma multiforme1572.31e-08Significant26824661
HNSCHead and Neck squamous cell carcinoma2791.48e-18Significant25631445
KIRPKidney renal papillary cell carcinoma1610.135NS26536169
LGGBrain Lower Grade Glioma5138.91e-38Significant26824661
LUADLung adenocarcinoma2301.87e-07Significant25079552
LUSCLung squamous cell carcinoma1783.96e-11Significant22960745
OVOvarian serous cystadenocarcinoma2878.52e-27Significant21720365
PRADProstate adenocarcinoma3338.76e-16Significant26544944
READRectum adenocarcinoma670.0404Significant22810696
SKCMSkin Cutaneous Melanoma3150.775NS26091043
STADStomach adenocarcinoma2775.65e-10Significant25079317
THCAThyroid carcinoma3913.49e-18Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.121NS23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.9490.819NS
BRCABreast invasive carcinoma1079 0.650.0461Longer
CESCCervical and endocervical cancers291 0.4620.014Longer
COADColon adenocarcinoma439 0.8930.666NS
ESCAEsophageal carcinoma184 1.1630.672NS
GBMGlioblastoma multiforme158 0.9870.962NS
HNSCHead and Neck squamous cell carcinoma518 0.5270.000764Longer
KIRCKidney renal clear cell carcinoma531 0.9140.656NS
KIRPKidney renal papillary cell carcinoma287 1.2670.556NS
LAMLAcute Myeloid Leukemia149 1.5610.146NS
LGGBrain Lower Grade Glioma511 1.9060.0169Shorter
LIHCLiver hepatocellular carcinoma365 0.6230.0643NS
LUADLung adenocarcinoma502 0.6640.0567NS
LUSCLung squamous cell carcinoma494 1.0820.688NS
OVOvarian serous cystadenocarcinoma303 1.1070.631NS
PAADPancreatic adenocarcinoma177 1.0380.908NS
PCPGPheochromocytoma and Paraganglioma179 1.0580.955NS
PRADProstate adenocarcinoma497 0.3580.233NS
READRectum adenocarcinoma159 0.6410.382NS
SARCSarcoma259 0.4550.00697Longer
SKCMSkin Cutaneous Melanoma459 0.5580.00235Longer
STADStomach adenocarcinoma388 1.2440.32NS
TGCTTesticular Germ Cell Tumors134 652703665.1830.139NS
THCAThyroid carcinoma500 0.6210.456NS
THYMThymoma119 00.0178Longer
UCECUterine Corpus Endometrial Carcinoma543 0.6280.119NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 0.0810.103NS
BRCABreast invasive carcinoma1071 -0.0270.369NS
CESCCervical and endocervical cancers167 -0.0710.359NS
COADColon adenocarcinoma445 -0.1350.00438Lower
ESCAEsophageal carcinoma162 0.0470.553NS
HNSCHead and Neck squamous cell carcinoma448 -0.1210.0104Lower
KIRCKidney renal clear cell carcinoma531 0.110.0109Higher
KIRPKidney renal papillary cell carcinoma260 -0.0680.277NS
LIHCLiver hepatocellular carcinoma347 -0.1150.0318Lower
LUADLung adenocarcinoma507 -0.1420.00133Lower
LUSCLung squamous cell carcinoma497 -0.0770.0852NS
OVOvarian serous cystadenocarcinoma302 0.0390.503NS
PAADPancreatic adenocarcinoma176 0.0930.22NS
READRectum adenocarcinoma156 -0.0560.484NS
SKCMSkin Cutaneous Melanoma410 -0.0040.943NS
STADStomach adenocarcinoma392 0.1590.00157Higher
TGCTTesticular Germ Cell Tumors81 -0.3680.000723Lower
THCAThyroid carcinoma499 -0.0330.467NS
UCECUterine Corpus Endometrial Carcinoma501 -0.1310.00329Lower
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 0.0690.254NS
HNSCHead and Neck squamous cell carcinoma498 0.1290.00402Higher
KIRCKidney renal clear cell carcinoma525 0.179.46e-05Higher
LGGBrain Lower Grade Glioma514 0.0860.05NS
LIHCLiver hepatocellular carcinoma366 -0.0110.83NS
OVOvarian serous cystadenocarcinoma296 -0.0060.924NS
PAADPancreatic adenocarcinoma176 0.0640.401NS
STADStomach adenocarcinoma406 0.3326.65e-12Higher
UCECUterine Corpus Endometrial Carcinoma534 -0.0830.0566NS
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Targets inferred by reverse engineering method
> Targets identified by ChIP-seq data
> Targets inferred by reverse engineering method
 
> Targets identified by ChIP-seq data
 
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Drugs from DrugBank database
> Drugs from DrugBank database
 
There is no record for IKZF1.
Summary
SymbolIKZF1
NameIKAROS family zinc finger 1
Aliases hIk-1; LyF-1; Hs.54452; IKAROS; PPP1R92; protein phosphatase 1, regulatory subunit 92; ZNFN1A1; zinc finger ......
Location7p12.2
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Protein-Protein Interaction Network
> miRNA Regulatory Relationship
> Interactions from Text Mining
> Protein-Protein Interaction Network
 
> miRNA Regulatory Relationship
 
> Interactions from Text Mining
 
PMID Cancer Hierarchy Gene Relation to CR Evidence
27294874Acute Myeloid LeukemiaupstreamLENRegulationLEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.
27294874Acute Myeloid LeukemiadownstreamGPR68Positive regulationLEN induced GPR68 expression via IKAROS family zinc finger 1 (IKZF1), resulting in increased cytosolic calcium levels and activation of a calcium-dependent calpain, CAPN1, which were requisite steps for induction of apoptosis in MDS cells and in acute myeloid leukemia (AML) cells.
27265895B Acute Lymphoblastic LeukemiapartnerETV6Co-existing mutationFurthermore, we identify a subtype characterized by an ETV6-RUNX1-like gene-expression profile and coexisting ETV6 and IKZF1 alterations.
25370416Chronic Myeloid LeukemiaupstreamIK6Negative regulationWe confirmed that IK6 disrupts IKAROS activity in transduced CP-CML cells and showed that it confers on them features of AP-CML, including a prolonged increased output in vitro and in xenografted mice of primitive cells with an enhanced ability to differentiate into basophils.
25331116Acute Lymphoblastic LeukemiapartnerMonosomy 7Mutually exclusiveMutations in IKZF1, a gene located on chromosome 7, and monosomy 7 are mutually exclusive in this disease.
21840596T Acute Lymphoblastic LeukemiadownstreamNotch1Negative regulationDNA-binding Ikaros repressed Notch1 response in transfected cell lines and in CD4(+)8(+) (DP) thymocytes from young pre-leukemic Ikzf1(Plstc) heterozygous mice.
21750978LeukemiaupstreamCK2Negative regulationThese results demonstrate the role of CK2 kinase in lymphocyte differentiation and in regulation of Ikaros' function, and suggest that CK2 promotes leukemogenesis by inhibiting the tumor suppressor activity of Ikaros.
28401483B cell acute lymphoblastic LymphomapartnerETV6; CDNK2A/B; PAX5; BTG1Mutual exclusive; association; assoication; associationMost cases harbored multiple concurrent CNA, with IKZF1 concomitantly occurring with CDNK2A/B, PAX5 and BTG1, while JAK2 occurred with CDNK2A/B and PAX5. Mutually exclusive CNA included ETV6 and IKZF1/RB1, and EBF1 and JAK2.
28214896B Acute Lymphoblastic LeukemiapartnerBCR-ABL1; PAX5; CDKN2A/B; FLT3 AssociationFurthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification.