Browse L3MBTL1 in pancancer

Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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 PF02820 mbt repeat
PF00536 SAM domain (Sterile alpha motif)
PF01530 Zinc finger
Function

Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys-860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis.

Classification
Class Modification Substrate Product PubMed
Histone modification read # H1BK26, H4K20 # 18026117
> Gene Ontology
 
Biological Process GO:0007067 mitotic nuclear division
GO:0007088 regulation of mitotic nuclear division
GO:0007346 regulation of mitotic cell cycle
GO:0030099 myeloid cell differentiation
GO:0030219 megakaryocyte differentiation
GO:0045637 regulation of myeloid cell differentiation
GO:0045652 regulation of megakaryocyte differentiation
GO:0051783 regulation of nuclear division
GO:0072331 signal transduction by p53 class mediator
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1903706 regulation of hemopoiesis
Molecular Function GO:0003682 chromatin binding
GO:0031491 nucleosome binding
GO:0031493 nucleosomal histone binding
GO:0032093 SAM domain binding
GO:0035064 methylated histone binding
GO:0042393 histone binding
Cellular Component GO:0000785 chromatin
GO:0000793 condensed chromosome
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-5633007: Regulation of TP53 Activity
R-HSA-6804760: Regulation of TP53 Activity through Methylation
R-HSA-3700989: Transcriptional Regulation by TP53
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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)
 
There is no record.
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM26948c.1317G>Ap.W439*Substitution - NonsenseSkin
COSM162082c.328G>Ap.A110TSubstitution - MissenseBreast
COSM77987c.1921G>Ap.V641MSubstitution - MissenseOvary
COSM137718c.1019C>Tp.P340LSubstitution - MissenseSkin
> Text Mining based Variations
 
PMID Variation Cancer Evidence
22170482Mutation; altered expressionMyeloproliferative NeoplasmIn addition to mutation, alterations in the expression or activity of chromatin-modifying/reading proteins PRMT5 and L3MBTL1 have been found to be important in MPN development.
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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 carcinoma194082.1482.5980.3790.259NS
BRCABreast invasive carcinoma11211002.6552.073-0.8185.63e-10Under
CESCCervical and endocervical cancers33062.7062.659NANANA
COADColon adenocarcinoma414591.2982.2420.820.000757Over
ESCAEsophageal carcinoma111853.1012.791-0.320.555NS
GBMGlioblastoma multiforme51664.7742.982NANANA
HNSCHead and Neck squamous cell carcinoma445220.9750.87-0.0970.687NS
KIRCKidney renal clear cell carcinoma725341.542.3790.7174.6e-07Over
KIRPKidney renal papillary cell carcinoma322912.1583.1390.9267.34e-05Over
LAMLAcute Myeloid Leukemia0173NA5.036NANANA
LGGBrain Lower Grade Glioma0530NA3.818NANANA
LIHCLiver hepatocellular carcinoma50373-0.6880.7941.487.85e-19Over
LUADLung adenocarcinoma595171.5142.4850.6952.72e-05Over
LUSCLung squamous cell carcinoma515011.7982.3330.5070.00594NS
OVOvarian serous cystadenocarcinoma0307NA3.481NANANA
PAADPancreatic adenocarcinoma41792.42.643NANANA
PCPGPheochromocytoma and Paraganglioma31842.4093.721NANANA
PRADProstate adenocarcinoma524982.3952.6980.210.0907NS
READRectum adenocarcinoma101671.232.6751.2520.00637Over
SARCSarcoma22632.1521.575NANANA
SKCMSkin Cutaneous Melanoma14722.1681.86NANANA
STADStomach adenocarcinoma354151.7952.3820.1970.484NS
TGCTTesticular Germ Cell Tumors0156NA3.91NANANA
THCAThyroid carcinoma595093.1352.993-0.1790.0924NS
THYMThymoma21203.6233.36NANANA
UCECUterine Corpus Endometrial Carcinoma355463.1712.756-0.4290.0167NS
> Cancer Cell Line Encyclopedia (CCLE)
 

There is no record.
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 1.9
Adrenal gland 3.6
Appendix 3.1
Bone marrow 2.3
Breast 3.2
Cerebral cortex 9.9
Cervix, uterine 2.9
Colon 1.6
Duodenum 2.2
Endometrium 6.6
Epididymis 7
Esophagus 1.8
Fallopian tube 8.1
Gallbladder 3
Heart muscle 1.8
Kidney 1.6
Liver 0.3
Lung 3.1
Lymph node 3
Ovary 6.6
Pancreas 0.3
Parathyroid gland 5.4
Placenta 3.8
Prostate 4.7
Rectum 2.5
Salivary gland 1.8
Seminal vesicle 5.2
Skeletal muscle 1.7
Skin 5.9
Small intestine 2.7
Smooth muscle 4.4
Spleen 4.2
Stomach 2
Testis 10.1
Thyroid gland 5.9
Tonsil 2.5
Urinary bladder 1.8
> Text Mining based Expression
 
PMID Expression Cancer Evidence
22170482Mutation; altered expressionMyeloproliferative NeoplasmIn addition to mutation, alterations in the expression or activity of chromatin-modifying/reading proteins PRMT5 and L3MBTL1 have been found to be important in MPN development.
21837478Loss of ExpressionHematopoietic Malignancies We propose that the loss of L3MBTL1 contributes to the development of 20q(-) hematopoietic malignancies by inducing replicative stress, DNA damage, and genomic instability.
20585043Underexpression (copy number loss)Myeloproliferative NeoplasmOur data suggest that haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation.
15334543UnderexpressionMyeloid LeukemiaHowever, given the known dosage effects of PcG proteins in regulating gene expression, reduced or absent L3MBTL expression may be relevant in some cases of myeloid leukemia.
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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 carcinoma4040.3223.15e-11237.160.9Gain
BRCABreast invasive carcinoma10750.1646.78e-08650.643.3Gain
CESCCervical and endocervical cancers2920.2279.04e-055.554.540.1Gain
COADColon adenocarcinoma4490.5033.26e-300.227.871.9Gain
ESCAEsophageal carcinoma1830.2670.0002621.632.865.6Gain
GBMGlioblastoma multiforme1470.1690.0412261.936.1Gain
HNSCHead and Neck squamous cell carcinoma5140.1280.003786.655.437.9Gain
KIRCKidney renal clear cell carcinoma5250.0830.0562077.322.7Neutral
KIRPKidney renal papillary cell carcinoma2880.461.62e-160.364.635.1Gain
LAMLAcute Myeloid Leukemia1660.384.35e-071.898.20Neutral
LGGBrain Lower Grade Glioma513-0.0380.3860.690.88.6Neutral
LIHCLiver hepatocellular carcinoma3640.2691.92e-07364.832.1Neutral
LUADLung adenocarcinoma5120.1921.16e-0515.644.739.6Gain
LUSCLung squamous cell carcinoma4980.2414.93e-08938.652.4Gain
OVOvarian serous cystadenocarcinoma3000.3732.57e-116.73459.3Gain
PAADPancreatic adenocarcinoma1770.080.2872.372.325.4Neutral
PCPGPheochromocytoma and Paraganglioma1620.1130.1531.9926.2Neutral
PRADProstate adenocarcinoma4910.0910.04422.689.67.7Neutral
READRectum adenocarcinoma1640.130.097901189Gain
SARCSarcoma255-0.0940.1356.355.738Gain
SKCMSkin Cutaneous Melanoma3670.1810.0004872.248.249.6Gain
STADStomach adenocarcinoma4130.4067.93e-180.233.466.3Gain
TGCTTesticular Germ Cell Tumors1500.1080.198.762.728.7Neutral
THCAThyroid carcinoma497-0.0070.884097.62.4Neutral
THYMThymoma119-0.1970.03130.890.88.4Neutral
UCECUterine Corpus Endometrial Carcinoma5370.3715.79e-192.271.925.9Neutral
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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-0.501017408-0.126.29e-07NS/NA
BRCABreast invasive carcinoma-0.451083785-0.0160.219NS/NA
CESCCervical and endocervical cancers-0.3581.17e-103306NANANS/NA
COADColon adenocarcinoma-0.578019297-0.0180.0459NS/NA
ESCAEsophageal carcinoma-0.4497.26e-119185NANANS/NA
GBMGlioblastoma multiforme-0.4530.000178164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.4060205220.0790.0948NS/NA
KIRCKidney renal clear cell carcinoma-0.2781.95e-0724319-0.0150.0498NS/NA
KIRPKidney renal papillary cell carcinoma-0.4026.98e-1323275-0.0320.000177NS/NA
LAMLAcute Myeloid Leukemia-0.160.03680170NANANS/NA
LGGBrain Lower Grade Glioma-0.2666.19e-100530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.3725.22e-1541373-0.0531.34e-16NS/NA
LUADLung adenocarcinoma-0.429021456-0.0320.00238NS/NA
LUSCLung squamous cell carcinoma-0.341.42e-118370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.950.00035309NANANS/NA
PAADPancreatic adenocarcinoma-0.2926.44e-054179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.0020.9783184NANANS/NA
PRADProstate adenocarcinoma-0.384035498-0.0292.35e-08NS/NA
READRectum adenocarcinoma-0.6230299NANANS/NA
SARCSarcoma-0.3516.11e-090263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.4501471NANANS/NA
STADStomach adenocarcinoma-0.47600372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.4312.64e-080156NANANS/NA
THCAThyroid carcinoma-0.1250.00298505090.0070.882NS/NA
THYMThymoma-0.358.77e-052120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.170.000239344310.0190.293NS/NA
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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)
 
There is no antibody staining data.
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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 carcinoma1280.414NS24476821
BRCABreast invasive carcinoma5211.55e-09Significant23000897
COADColon adenocarcinoma1499.54e-11Significant22810696
GBMGlioblastoma multiforme1570.00055Significant26824661
HNSCHead and Neck squamous cell carcinoma2790.0141Significant25631445
KIRPKidney renal papillary cell carcinoma1614.93e-06Significant26536169
LGGBrain Lower Grade Glioma5138.33e-13Significant26824661
LUADLung adenocarcinoma2300.00402Significant25079552
LUSCLung squamous cell carcinoma1780.00169Significant22960745
OVOvarian serous cystadenocarcinoma2870.00067Significant21720365
PRADProstate adenocarcinoma3330.63NS26544944
READRectum adenocarcinoma670.285NS22810696
SKCMSkin Cutaneous Melanoma3150.142NS26091043
STADStomach adenocarcinoma2772.52e-08Significant25079317
THCAThyroid carcinoma3910.72NS25417114
UCECUterine Corpus Endometrial Carcinoma2326.82e-06Significant23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.4980.00137Longer
BRCABreast invasive carcinoma1079 1.3240.231NS
CESCCervical and endocervical cancers291 0.7260.368NS
COADColon adenocarcinoma439 1.6780.0825NS
ESCAEsophageal carcinoma184 1.2740.425NS
GBMGlioblastoma multiforme158 1.1540.571NS
HNSCHead and Neck squamous cell carcinoma518 0.6910.0659NS
KIRCKidney renal clear cell carcinoma531 1.8680.00213Shorter
KIRPKidney renal papillary cell carcinoma287 0.8430.637NS
LAMLAcute Myeloid Leukemia149 0.5850.0828NS
LGGBrain Lower Grade Glioma511 0.5440.0225Longer
LIHCLiver hepatocellular carcinoma365 1.2280.379NS
LUADLung adenocarcinoma502 0.9540.815NS
LUSCLung squamous cell carcinoma494 1.0720.715NS
OVOvarian serous cystadenocarcinoma303 1.3380.162NS
PAADPancreatic adenocarcinoma177 0.4620.00621Longer
PCPGPheochromocytoma and Paraganglioma179 766946791.4680.113NS
PRADProstate adenocarcinoma497 5.4310.0899NS
READRectum adenocarcinoma159 0.3230.0554NS
SARCSarcoma259 0.9640.896NS
SKCMSkin Cutaneous Melanoma459 0.7630.159NS
STADStomach adenocarcinoma388 1.0320.891NS
TGCTTesticular Germ Cell Tumors134 00.352NS
THCAThyroid carcinoma500 0.7560.693NS
THYMThymoma119 0.5620.639NS
UCECUterine Corpus Endometrial Carcinoma543 1.2860.375NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.1230.0132Lower
BRCABreast invasive carcinoma1071 -0.0240.439NS
CESCCervical and endocervical cancers167 -0.1440.063NS
COADColon adenocarcinoma445 0.1110.0188Higher
ESCAEsophageal carcinoma162 -0.0260.747NS
HNSCHead and Neck squamous cell carcinoma448 0.0240.609NS
KIRCKidney renal clear cell carcinoma531 0.0170.692NS
KIRPKidney renal papillary cell carcinoma260 -0.1390.0251Lower
LIHCLiver hepatocellular carcinoma347 -0.0030.952NS
LUADLung adenocarcinoma507 -0.0690.122NS
LUSCLung squamous cell carcinoma497 -0.0210.637NS
OVOvarian serous cystadenocarcinoma302 -0.0740.197NS
PAADPancreatic adenocarcinoma176 -0.1250.0997NS
READRectum adenocarcinoma156 0.0590.463NS
SKCMSkin Cutaneous Melanoma410 -0.0220.657NS
STADStomach adenocarcinoma392 0.0680.177NS
TGCTTesticular Germ Cell Tumors81 -0.0930.408NS
THCAThyroid carcinoma499 -0.0710.114NS
UCECUterine Corpus Endometrial Carcinoma501 0.1130.011Higher
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 0.0730.23NS
HNSCHead and Neck squamous cell carcinoma498 0.2082.97e-06Higher
KIRCKidney renal clear cell carcinoma525 -0.0420.332NS
LGGBrain Lower Grade Glioma514 -0.1785.04e-05Lower
LIHCLiver hepatocellular carcinoma366 0.2346.32e-06Higher
OVOvarian serous cystadenocarcinoma296 0.0150.8NS
PAADPancreatic adenocarcinoma176 -0.0580.445NS
STADStomach adenocarcinoma406 -0.1020.04Lower
UCECUterine Corpus Endometrial Carcinoma534 0.0890.0396Higher
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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
 
DrugBank ID Name Type All Targets
DB038142-(N-Morpholino)-Ethanesulfonic AcidSmall Molecule Drug
Summary
SymbolL3MBTL1
Namel(3)mbt-like 1 (Drosophila)
Aliases ZC2HC3; dJ138B7.3; DKFZp586P1522; KIAA0681; lethal (3) malignant brain tumor l(3); L3MBTL; l(3)mbt (Drosophi ......
Location20q13.12
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
 
There is no record for L3MBTL1.