Browse EP300 in pancancer

Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 PF00439 Bromodomain
PF09030 Creb binding
PF06001 Domain of Unknown Function (DUF902)
PF08214 Histone acetylation protein
PF02172 KIX domain
PF02135 TAZ zinc finger
PF00569 Zinc finger
Function

Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K27ac). Also functions as acetyltransferase for nonhistone targets. Acetylates 'Lys-131' of ALX1 and acts as its coactivator. Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function. Acetylates HDAC1 leading to its inactivation and modulation of transcription. Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2. Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Acetylates FOXO1 and enhances its transcriptional activity. Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity. Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter. Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:10733570, PubMed:11430825, PubMed:11701890, PubMed:12402037, PubMed:12586840, PubMed:12929931, PubMed:14645221, PubMed:15186775, PubMed:15890677, PubMed:16617102, PubMed:16762839, PubMed:18722353, PubMed:18995842, PubMed:23415232, PubMed:23911289, PubMed:23934153, PubMed:8945521). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D.

Classification
Class Modification Substrate Product PubMed
Histone modification write Histone acetylation H2A, H2B, H3, H4 # 17065153
> Gene Ontology
 
Biological Process GO:0000075 cell cycle checkpoint
GO:0000077 DNA damage checkpoint
GO:0000082 G1/S transition of mitotic cell cycle
GO:0001501 skeletal system development
GO:0001666 response to hypoxia
GO:0001756 somitogenesis
GO:0001819 positive regulation of cytokine production
GO:0002218 activation of innate immune response
GO:0002220 innate immune response activating cell surface receptor signaling pathway
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0002429 immune response-activating cell surface receptor signaling pathway
GO:0002521 leukocyte differentiation
GO:0002757 immune response-activating signal transduction
GO:0002758 innate immune response-activating signal transduction
GO:0002764 immune response-regulating signaling pathway
GO:0002768 immune response-regulating cell surface receptor signaling pathway
GO:0003002 regionalization
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006473 protein acetylation
GO:0006474 N-terminal protein amino acid acetylation
GO:0006475 internal protein amino acid acetylation
GO:0006476 protein deacetylation
GO:0006914 autophagy
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0006986 response to unfolded protein
GO:0006990 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response
GO:0007050 cell cycle arrest
GO:0007093 mitotic cell cycle checkpoint
GO:0007219 Notch signaling pathway
GO:0007346 regulation of mitotic cell cycle
GO:0007389 pattern specification process
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0007623 circadian rhythm
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009266 response to temperature stimulus
GO:0009314 response to radiation
GO:0009408 response to heat
GO:0009411 response to UV
GO:0009416 response to light stimulus
GO:0009755 hormone-mediated signaling pathway
GO:0009952 anterior/posterior pattern specification
GO:0010506 regulation of autophagy
GO:0010742 macrophage derived foam cell differentiation
GO:0010948 negative regulation of cell cycle process
GO:0014706 striated muscle tissue development
GO:0016570 histone modification
GO:0016573 histone acetylation
GO:0018076 N-terminal peptidyl-lysine acetylation
GO:0018205 peptidyl-lysine modification
GO:0018393 internal peptidyl-lysine acetylation
GO:0018394 peptidyl-lysine acetylation
GO:0019058 viral life cycle
GO:0019080 viral gene expression
GO:0019083 viral transcription
GO:0030098 lymphocyte differentiation
GO:0030099 myeloid cell differentiation
GO:0030183 B cell differentiation
GO:0030219 megakaryocyte differentiation
GO:0030220 platelet formation
GO:0030323 respiratory tube development
GO:0030324 lung development
GO:0030330 DNA damage response, signal transduction by p53 class mediator
GO:0030518 intracellular steroid hormone receptor signaling pathway
GO:0030521 androgen receptor signaling pathway
GO:0030522 intracellular receptor signaling pathway
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0031349 positive regulation of defense response
GO:0031365 N-terminal protein amino acid modification
GO:0031570 DNA integrity checkpoint
GO:0031571 mitotic G1 DNA damage checkpoint
GO:0031647 regulation of protein stability
GO:0032092 positive regulation of protein binding
GO:0032479 regulation of type I interferon production
GO:0032481 positive regulation of type I interferon production
GO:0032606 type I interferon production
GO:0033143 regulation of intracellular steroid hormone receptor signaling pathway
GO:0034605 cellular response to heat
GO:0034620 cellular response to unfolded protein
GO:0034644 cellular response to UV
GO:0034976 response to endoplasmic reticulum stress
GO:0035282 segmentation
GO:0035601 protein deacylation
GO:0035821 modification of morphology or physiology of other organism
GO:0035855 megakaryocyte development
GO:0035966 response to topologically incorrect protein
GO:0035967 cellular response to topologically incorrect protein
GO:0036293 response to decreased oxygen levels
GO:0036294 cellular response to decreased oxygen levels
GO:0036344 platelet morphogenesis
GO:0040029 regulation of gene expression, epigenetic
GO:0042113 B cell activation
GO:0042770 signal transduction in response to DNA damage
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0043393 regulation of protein binding
GO:0043401 steroid hormone mediated signaling pathway
GO:0043543 protein acylation
GO:0043618 regulation of transcription from RNA polymerase II promoter in response to stress
GO:0043620 regulation of DNA-templated transcription in response to stress
GO:0043627 response to estrogen
GO:0043900 regulation of multi-organism process
GO:0043902 positive regulation of multi-organism process
GO:0043903 regulation of symbiosis, encompassing mutualism through parasitism
GO:0043921 modulation by host of viral transcription
GO:0043923 positive regulation by host of viral transcription
GO:0043967 histone H4 acetylation
GO:0043969 histone H2B acetylation
GO:0044033 multi-organism metabolic process
GO:0044770 cell cycle phase transition
GO:0044772 mitotic cell cycle phase transition
GO:0044773 mitotic DNA damage checkpoint
GO:0044774 mitotic DNA integrity checkpoint
GO:0044783 G1 DNA damage checkpoint
GO:0044819 mitotic G1/S transition checkpoint
GO:0044843 cell cycle G1/S phase transition
GO:0045088 regulation of innate immune response
GO:0045089 positive regulation of innate immune response
GO:0045444 fat cell differentiation
GO:0045786 negative regulation of cell cycle
GO:0045787 positive regulation of cell cycle
GO:0045815 positive regulation of gene expression, epigenetic
GO:0045930 negative regulation of mitotic cell cycle
GO:0046782 regulation of viral transcription
GO:0048511 rhythmic process
GO:0048524 positive regulation of viral process
GO:0048545 response to steroid hormone
GO:0050434 positive regulation of viral transcription
GO:0050792 regulation of viral process
GO:0050821 protein stabilization
GO:0051090 regulation of sequence-specific DNA binding transcription factor activity
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051098 regulation of binding
GO:0051099 positive regulation of binding
GO:0051702 interaction with symbiont
GO:0051817 modification of morphology or physiology of other organism involved in symbiotic interaction
GO:0051851 modification by host of symbiont morphology or physiology
GO:0052312 modulation of transcription in other organism involved in symbiotic interaction
GO:0052472 modulation by host of symbiont transcription
GO:0060348 bone development
GO:0060537 muscle tissue development
GO:0060538 skeletal muscle organ development
GO:0060541 respiratory system development
GO:0060765 regulation of androgen receptor signaling pathway
GO:0061053 somite development
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0061515 myeloid cell development
GO:0070482 response to oxygen levels
GO:0071156 regulation of cell cycle arrest
GO:0071158 positive regulation of cell cycle arrest
GO:0071214 cellular response to abiotic stimulus
GO:0071383 cellular response to steroid hormone stimulus
GO:0071396 cellular response to lipid
GO:0071407 cellular response to organic cyclic compound
GO:0071453 cellular response to oxygen levels
GO:0071456 cellular response to hypoxia
GO:0071478 cellular response to radiation
GO:0071482 cellular response to light stimulus
GO:0072331 signal transduction by p53 class mediator
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:0072395 signal transduction involved in cell cycle checkpoint
GO:0072401 signal transduction involved in DNA integrity checkpoint
GO:0072413 signal transduction involved in mitotic cell cycle checkpoint
GO:0072422 signal transduction involved in DNA damage checkpoint
GO:0072431 signal transduction involved in mitotic G1 DNA damage checkpoint
GO:0090042 tubulin deacetylation
GO:0090043 regulation of tubulin deacetylation
GO:0090068 positive regulation of cell cycle process
GO:0090077 foam cell differentiation
GO:0090311 regulation of protein deacetylation
GO:0097193 intrinsic apoptotic signaling pathway
GO:0098732 macromolecule deacylation
GO:0098751 bone cell development
GO:1900034 regulation of cellular response to heat
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1901987 regulation of cell cycle phase transition
GO:1901988 negative regulation of cell cycle phase transition
GO:1901990 regulation of mitotic cell cycle phase transition
GO:1901991 negative regulation of mitotic cell cycle phase transition
GO:1902400 intracellular signal transduction involved in G1 DNA damage checkpoint
GO:1902402 signal transduction involved in mitotic DNA damage checkpoint
GO:1902403 signal transduction involved in mitotic DNA integrity checkpoint
GO:1902806 regulation of cell cycle G1/S phase transition
GO:1902807 negative regulation of cell cycle G1/S phase transition
GO:1903900 regulation of viral life cycle
GO:1903902 positive regulation of viral life cycle
GO:1904837 beta-catenin-TCF complex assembly
GO:2000045 regulation of G1/S transition of mitotic cell cycle
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Molecular Function GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001047 core promoter binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0002039 p53 binding
GO:0003682 chromatin binding
GO:0003684 damaged DNA binding
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
GO:0008013 beta-catenin binding
GO:0008022 protein C-terminus binding
GO:0008080 N-acetyltransferase activity
GO:0008134 transcription factor binding
GO:0016407 acetyltransferase activity
GO:0016410 N-acyltransferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups
GO:0031490 chromatin DNA binding
GO:0033613 activating transcription factor binding
GO:0034212 peptide N-acetyltransferase activity
GO:0035257 nuclear hormone receptor binding
GO:0035258 steroid hormone receptor binding
GO:0036002 pre-mRNA binding
GO:0043566 structure-specific DNA binding
GO:0050681 androgen receptor binding
GO:0051427 hormone receptor binding
GO:0061733 peptide-lysine-N-acetyltransferase activity
GO:0097157 pre-mRNA intronic binding
Cellular Component GO:0000123 histone acetyltransferase complex
GO:0005667 transcription factor complex
GO:0031248 protein acetyltransferase complex
GO:1902493 acetyltransferase complex
> KEGG and Reactome Pathway
 
KEGG hsa04024 cAMP signaling pathway
hsa04066 HIF-1 signaling pathway
hsa04068 FoxO signaling pathway
hsa04110 Cell cycle
hsa04310 Wnt signaling pathway
hsa04330 Notch signaling pathway
hsa04350 TGF-beta signaling pathway
hsa04520 Adherens junction
hsa04630 Jak-STAT signaling pathway
hsa04720 Long-term potentiation
hsa04916 Melanogenesis
hsa04919 Thyroid hormone signaling pathway
hsa04922 Glucagon signaling pathway
Reactome R-HSA-5619507: Activation of HOX genes during differentiation
R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-8866907: Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-3371568: Attenuation phase
R-HSA-5250924: B-WICH complex positively regulates rRNA expression
R-HSA-1368108: BMAL1
R-HSA-5621481: C-type lectin receptors (CLRs)
R-HSA-5621575: CD209 (DC-SIGN) signaling
R-HSA-1640170: Cell Cycle
R-HSA-69278: Cell Cycle, Mitotic
R-HSA-3371556: Cellular response to heat stress
R-HSA-2262749: Cellular response to hypoxia
R-HSA-2262752: Cellular responses to stress
R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-400253: Circadian Clock
R-HSA-2894862: Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2644606: Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-1834949: Cytosolic sensors of pathogen-associated DNA
R-HSA-73894: DNA Repair
R-HSA-5688426: Deubiquitination
R-HSA-1266738: Developmental Biology
R-HSA-1643685: Disease
R-HSA-5663202: Diseases of signal transduction
R-HSA-6782135: Dual incision in TC-NER
R-HSA-212165: Epigenetic regulation of gene expression
R-HSA-983231: Factors involved in megakaryocyte development and platelet production
R-HSA-535734: Fatty acid, triacylglycerol, and ketone body metabolism
R-HSA-6781823: Formation of TC-NER Pre-Incision Complex
R-HSA-201722: Formation of the beta-catenin
R-HSA-69275: G2/M Transition
R-HSA-6782210: Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-3214847: HATs acetylate histones
R-HSA-3371571: HSF1-dependent transactivation
R-HSA-109582: Hemostasis
R-HSA-168256: Immune System
R-HSA-168249: Innate Immune System
R-HSA-3134973: LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
R-HSA-1430728: Metabolism
R-HSA-556833: Metabolism of lipids and lipoproteins
R-HSA-392499: Metabolism of proteins
R-HSA-5689901: Metalloprotease DUBs
R-HSA-453274: Mitotic G2-G2/M phases
R-HSA-2122947: NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563: NOTCH2 intracellular domain regulates transcription
R-HSA-5696398: Nucleotide Excision Repair
R-HSA-6811555: PI5P Regulates TP53 Acetylation
R-HSA-1989781: PPARA activates gene expression
R-HSA-156711: Polo-like kinase mediated events
R-HSA-5250913: Positive epigenetic regulation of rRNA expression
R-HSA-597592: Post-translational protein modification
R-HSA-1912422: Pre-NOTCH Expression and Processing
R-HSA-1912408: Pre-NOTCH Transcription and Translation
R-HSA-168928: RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
R-HSA-1368082: RORA activates gene expression
R-HSA-1234174: Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-5633007: Regulation of TP53 Activity
R-HSA-6804758: Regulation of TP53 Activity through Acetylation
R-HSA-6804760: Regulation of TP53 Activity through Methylation
R-HSA-1234158: Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-400206: Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-162582: Signal Transduction
R-HSA-157118: Signaling by NOTCH
R-HSA-1980143: Signaling by NOTCH1
R-HSA-2894858: Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-2644602: Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2644603: Signaling by NOTCH1 in Cancer
R-HSA-1980145: Signaling by NOTCH2
R-HSA-195721: Signaling by Wnt
R-HSA-201681: TCF dependent signaling in response to WNT
R-HSA-6791312: TP53 Regulates Transcription of Cell Cycle Genes
R-HSA-6804114: TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-918233: TRAF3-dependent IRF activation pathway
R-HSA-933541: TRAF6 mediated IRF7 activation
R-HSA-6781827: Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-3700989: Transcriptional Regulation by TP53
R-HSA-8864260: Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-381340: Transcriptional regulation of white adipocyte differentiation
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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
COSM4385239c.1081G>Ap.V361MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4602618c.1579C>Tp.L527FSubstitution - MissenseUpper_aerodigestive_tract
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseOesophagus
COSM4681096c.6644A>Gp.Q2215RSubstitution - MissenseLarge_intestine
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM478998c.5279A>Gp.K1760RSubstitution - MissenseKidney
COSM3153169c.4402delAp.M1470fs*26Deletion - FrameshiftBreast
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseOesophagus
COSM4385257c.4145G>Ap.G1382DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM97816c.4154G>Tp.C1385FSubstitution - MissenseUpper_aerodigestive_tract
COSM96441c.2779_2780insCp.T928fs*21Insertion - FrameshiftLarge_intestine
COSM3153069c.89G>Tp.G30VSubstitution - MissenseLarge_intestine
COSM1661670c.4519G>Ap.D1507NSubstitution - MissenseKidney
COSM3713737c.511G>Tp.A171SSubstitution - MissenseUpper_aerodigestive_tract
COSM305992c.4916T>Cp.L1639PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseLarge_intestine
COSM220521c.4399T>Ap.Y1467NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM580210c.4453G>Tp.D1485YSubstitution - MissenseOesophagus
COSM96424c.4949C>Ap.S1650YSubstitution - MissensePancreas
COSM255052c.4372_4377delCCCAAGp.P1460_K1461delPKDeletion - In frameUrinary_tract
COSM4385237c.764C>Tp.S255LSubstitution - MissenseSkin
COSM306019c.1879-1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1578560c.2777delCp.P927fs*19Deletion - FrameshiftMeninges
COSM4171092c.2003C>Tp.S668FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1416497c.6772C>Tp.Q2258*Substitution - NonsenseLarge_intestine
COSM4385242c.1898T>Cp.L633PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4613573c.2776_2777insCp.T928fs*21Insertion - FrameshiftLarge_intestine
COSM5881455c.?p.M1470fs*2FrameshiftHaematopoietic_and_lymphoid_tissue
COSM217240c.1169T>Gp.V390GSubstitution - MissenseLiver
COSM306019c.1879-1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1034571c.4933C>Tp.R1645*Substitution - NonsenseUrinary_tract
COSM3153105c.1777C>Tp.P593SSubstitution - MissenseSkin
COSM317283c.3857A>Gp.N1286SSubstitution - MissenseLarge_intestine
COSM4169403c.?p.R604QSubstitution - MissenseSkin
COSM4821763c.3935G>Ap.R1312QSubstitution - MissenseCervix
COSM5762874c.1352C>Ap.P451HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4821120c.1202C>Gp.S401*Substitution - NonsenseCervix
COSM3153144c.3695C>Tp.S1232FSubstitution - MissenseSkin
COSM1495213c.4287-2A>Tp.?UnknownKidney
COSM4496927c.4860C>Tp.P1620PSubstitution - coding silentSkin
COSM1734466c.743A>Cp.N248TSubstitution - MissensePancreas
COSM4605782c.6820C>Tp.Q2274*Substitution - NonsenseUpper_aerodigestive_tract
COSM4104441c.6616G>Tp.A2206SSubstitution - MissenseStomach
COSM1682290c.5346C>Ap.C1782*Substitution - NonsenseOvary
COSM318353c.3358G>Tp.D1120YSubstitution - MissenseSoft_tissue
COSM4385253c.3635G>Ap.S1212NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1632622c.3728+4A>Cp.?UnknownLiver
COSM5424838c.3501+2T>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4921819c.4681A>Gp.S1561GSubstitution - MissenseLiver
COSM5049516c.4199G>Ap.S1400NSubstitution - MissenseOesophagus
COSM5047408c.758A>Gp.Y253CSubstitution - MissenseOesophagus
COSM5352290c.?p.I1612VSubstitution - MissenseEndometrium
COSM5024942c.7121C>Tp.S2374FSubstitution - MissenseBreast
COSM5008576c.2978A>Gp.Q993RSubstitution - MissenseLarge_intestine
COSM5047782c.1465A>Tp.K489*Substitution - NonsenseOesophagus
COSM3153168c.4336T>Ap.Y1446NSubstitution - MissenseCentral_nervous_system
COSM3701763c.3281A>Gp.K1094RSubstitution - MissenseLiver
COSM3153140c.3621G>Ap.E1207ESubstitution - coding silentUpper_aerodigestive_tract
COSM3783562c.5490G>Tp.R1830SSubstitution - MissenseProstate
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseUrinary_tract
COSM254671c.193C>Tp.Q65*Substitution - NonsenseUrinary_tract
COSM5810687c.3213A>Cp.E1071DSubstitution - MissenseLiver
COSM320129c.5189C>Tp.S1730FSubstitution - MissenseBreast
COSM1034568c.4512C>Tp.F1504FSubstitution - coding silentEndometrium
COSM4833737c.3807-1G>Cp.?UnknownCervix
COSM5751396c.5784G>CGp.M1928fs*145Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM5393734c.1378G>Tp.D460YSubstitution - MissenseSkin
COSM4387470c.4343T>Cp.F1448SSubstitution - MissenseOesophagus
COSM5698871c.5462G>Tp.R1821LSubstitution - MissenseSoft_tissue
COSM1205369c.4397G>Tp.W1466LSubstitution - MissenseStomach
COSM4156325c.5335T>Gp.C1779GSubstitution - MissenseThyroid
COSM4878676c.6229A>Gp.N2077DSubstitution - MissenseProstate
COSM5452327c.3098C>Tp.S1033LSubstitution - MissenseLarge_intestine
COSM254668c.2470C>Tp.Q824*Substitution - NonsenseUrinary_tract
COSM1716512c.4540G>Ap.E1514KSubstitution - MissenseUpper_aerodigestive_tract
COSM88787c.6574_6585del12p.Q2192_Q2195delQQQQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM187721c.4886C>Tp.A1629VSubstitution - MissenseEndometrium
COSM5883686c.1678G>Ap.A560TSubstitution - MissenseUpper_aerodigestive_tract
COSM88782c.4710A>Tp.K1570NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5945462c.5043G>Ap.W1681*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1034558c.4048G>Ap.A1350TSubstitution - MissenseEndometrium
COSM317282c.4453-3C>Gp.?UnknownSoft_tissue
COSM4385235c.533T>Ap.L178*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4855466c.2329G>Ap.V777ISubstitution - MissenseCervix
COSM5981857c.2736G>Tp.Q912HSubstitution - MissenseUpper_aerodigestive_tract
COSM4603808c.4340_4342delTCTp.F1448delFDeletion - In frameUpper_aerodigestive_tract
COSM3554895c.6160C>Tp.L2054FSubstitution - MissenseSkin
COSM260693c.7121C>Ap.S2374YSubstitution - MissenseLarge_intestine
COSM96517c.3262-2A>Gp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM254673c.4561G>Cp.E1521QSubstitution - MissenseUrinary_tract
COSM3554892c.5482C>Tp.L1828FSubstitution - MissenseSkin
COSM5825439c.5386T>Gp.C1796GSubstitution - MissensePancreas
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseSkin
COSM1034517c.1436A>Cp.Q479PSubstitution - MissenseEndometrium
COSM1251230c.4607A>Gp.E1536GSubstitution - MissenseStomach
COSM1683282c.5860_5861insTTGp.H1954>LDComplex - insertion inframeCentral_nervous_system
COSM4385266c.6866C>Tp.A2289VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4427681c.5599C>Ap.Q1867KSubstitution - MissenseOesophagus
COSM4972749c.1684C>Tp.P562SSubstitution - MissenseOesophagus
COSM4991536c.6897C>Tp.I2299ISubstitution - coding silentSkin
COSM5487160c.3874+2T>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM1632621c.3391T>Ap.Y1131NSubstitution - MissenseLiver
COSM88778c.1768G>Cp.A590PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034542c.3377A>Gp.N1126SSubstitution - MissenseEndometrium
COSM5627109c.1943G>Tp.R648LSubstitution - MissenseOesophagus
COSM4774847c.5358_5359insAp.A1787fs*96Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1205370c.1651C>Tp.P551SSubstitution - MissenseLarge_intestine
COSM3153189c.4981C>Tp.Q1661*Substitution - NonsenseLarge_intestine
COSM219544c.2957A>Tp.Q986LSubstitution - MissenseBreast
COSM215865c.6633C>Ap.F2211LSubstitution - MissenseCentral_nervous_system
COSM1682286c.2405C>Tp.P802LSubstitution - MissenseKidney
COSM3153146c.3701_3702insAp.N1236fs*2Insertion - FrameshiftLarge_intestine
COSM3554881c.1078G>Ap.E360KSubstitution - MissenseSkin
COSM1034575c.5842T>Ap.F1948ISubstitution - MissenseEndometrium
COSM5608365c.6537C>Tp.F2179FSubstitution - coding silentSkin
COSM221269c.1244T>Cp.L415PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4387471c.4365G>Tp.Q1455HSubstitution - MissenseOesophagus
COSM4387476c.4540_4541GA>ATp.E1514ISubstitution - MissenseOesophagus
COSM1205369c.4397G>Tp.W1466LSubstitution - MissenseStomach
COSM5636718c.2439delGp.S815fs*35Deletion - FrameshiftOesophagus
COSM4991529c.3396C>Tp.N1132NSubstitution - coding silentSkin
COSM4387478c.6668A>Cp.Q2223PSubstitution - MissenseUpper_aerodigestive_tract
COSM4753584c.5380A>Gp.K1794ESubstitution - MissenseStomach
COSM4602491c.6221T>Cp.L2074PSubstitution - MissenseUpper_aerodigestive_tract
COSM88780c.4189T>Cp.Y1397HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4991525c.1014C>Tp.I338ISubstitution - coding silentSkin
COSM1034534c.3117G>Ap.P1039PSubstitution - coding silentLiver
COSM4387470c.4343T>Cp.F1448SSubstitution - MissenseOesophagus
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5366485c.4351C>Ap.H1451NSubstitution - MissenseLarge_intestine
COSM4169965c.4863C>Ap.C1621*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5944413c.5618_5622delCTCAGp.Q1874fs*7Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM224615c.4925C>Tp.S1642FSubstitution - MissenseSkin
COSM4385244c.2359G>Ap.G787SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4681095c.6166C>Tp.R2056WSubstitution - MissenseLarge_intestine
COSM5463124c.5486G>Ap.R1829HSubstitution - MissenseLarge_intestine
COSM3153169c.4402delAp.M1470fs*26Deletion - FrameshiftLarge_intestine
COSM1034521c.1543G>Tp.G515*Substitution - NonsenseEndometrium
COSM5647886c.670C>Tp.Q224*Substitution - NonsenseOesophagus
COSM5707680c.5048G>Ap.C1683YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3153106c.1781C>Tp.T594MSubstitution - MissenseLarge_intestine
COSM318349c.4508A>Cp.Y1503SSubstitution - MissenseLung
COSM5701415c.2024_2025insTp.M675fs*11Insertion - FrameshiftSoft_tissue
COSM5707673c.1760+1_1760+4delGTAAp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5896459c.2773C>Tp.P925SSubstitution - MissenseSkin
COSM254669c.4662G>Cp.K1554NSubstitution - MissenseUrinary_tract
COSM727023c.6489C>Tp.P2163PSubstitution - coding silentLung
COSM5057844c.1880C>Tp.A627VSubstitution - MissenseProstate
COSM244264c.6802C>Ap.Q2268KSubstitution - MissenseProstate
COSM5707675c.1951A>Tp.R651*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1682287c.4066C>Tp.R1356*Substitution - NonsenseBreast
COSM4156324c.1421C>Ap.P474HSubstitution - MissenseThyroid
COSM4838629c.4742C>Tp.S1581LSubstitution - MissenseCervix
COSM5608364c.4714G>Tp.G1572WSubstitution - MissenseSkin
COSM1205366c.1190G>Ap.R397QSubstitution - MissenseLarge_intestine
COSM3554888c.3595C>Tp.H1199YSubstitution - MissenseSkin
COSM5614887c.34T>Gp.S12ASubstitution - MissenseLung
COSM5608359c.4515G>Tp.E1505DSubstitution - MissenseSkin
COSM3992197c.61C>Gp.P21ASubstitution - MissenseKidney
COSM302136c.4400A>Gp.Y1467CSubstitution - MissenseCentral_nervous_system
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseOesophagus
COSM280813c.251T>Cp.L84SSubstitution - MissenseLarge_intestine
COSM27189c.5850G>Tp.R1950SSubstitution - MissenseLung
COSM4387474c.4534_4536delGTTp.V1512delDeletion - In frameOesophagus
COSM1034526c.1796C>Ap.A599DSubstitution - MissenseEndometrium
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseUrinary_tract
COSM4991535c.4602C>Tp.S1534SSubstitution - coding silentSkin
COSM4104426c.20A>Gp.E7GSubstitution - MissenseStomach
COSM3740447c.6922C>Tp.R2308CSubstitution - MissenseLiver
COSM4917326c.5322A>Tp.K1774NSubstitution - MissenseLiver
COSM3726179c.3482G>Cp.G1161ASubstitution - MissenseLung
COSM4169403c.?p.R604QSubstitution - MissenseSkin
COSM5047132c.3702delAp.N1236fs*41Deletion - FrameshiftOesophagus
COSM5352293c.?p.A2354TSubstitution - MissenseEndometrium
COSM3357344c.4399T>Gp.Y1467DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM145369c.5368T>Gp.C1790GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5945463c.5455C>Tp.Q1819*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5352315c.?p.M187LSubstitution - MissenseEndometrium
COSM305992c.4916T>Cp.L1639PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4387472c.4409T>Cp.M1470TSubstitution - MissenseOesophagus
COSM5024941c.6284C>Gp.S2095CSubstitution - MissenseBreast
COSM1235064c.4874A>Tp.D1625VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1308201c.40A>Cp.K14QSubstitution - MissenseUrinary_tract
COSM478999c.6022T>Cp.S2008PSubstitution - MissenseKidney
COSM4385261c.4600A>Gp.S1534GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5487677c.3491G>Ap.C1164YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5671280c.3482G>Tp.G1161VSubstitution - MissenseSoft_tissue
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseUpper_aerodigestive_tract
COSM4817436c.56C>Gp.S19*Substitution - NonsenseCervix
COSM143785c.?p.Q974*Substitution - NonsenseSkin
COSM160790c.2090G>Ap.S697NSubstitution - MissenseBreast
COSM5020281c.2019T>Cp.P673PSubstitution - coding silentSoft_tissue
COSM3357344c.4399T>Gp.Y1467DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3740446c.6788G>Ap.R2263QSubstitution - MissenseLiver
COSM1327208c.1906A>Gp.K636ESubstitution - MissenseOvary
COSM4516858c.2403_2404CC>TTp.P802SSubstitution - MissenseSkin
COSM5352298c.?p.R838CSubstitution - MissenseEndometrium
COSM1666681c.1019A>Tp.Q340LSubstitution - MissenseSalivary_gland
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3153169c.4402delAp.M1470fs*26Deletion - FrameshiftLarge_intestine
COSM1566443c.550C>Tp.Q184*Substitution - NonsenseLarge_intestine
COSM254673c.4561G>Cp.E1521QSubstitution - MissenseUrinary_tract
COSM3964351c.3806+8T>Gp.?UnknownLung
COSM5631924c.1765C>Ap.Q589KSubstitution - MissenseOesophagus
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseOesophagus
COSM95844c.1839G>Cp.R613RSubstitution - coding silentLung
COSM254668c.2470C>Tp.Q824*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM88793c.4617+1G>Ap.?UnknownOesophagus
COSM4427680c.1667_1668insTp.M556fs*61Insertion - FrameshiftOesophagus
COSM5778419c.6418G>Ap.V2140ISubstitution - MissenseBreast
COSM88790c.4408delAp.M1470fs*26Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5009621c.2989A>Gp.I997VSubstitution - MissenseLarge_intestine
COSM1034577c.6250T>Gp.F2084VSubstitution - MissenseEndometrium
COSM5707677c.4079T>Cp.L1360PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1682287c.4066C>Tp.R1356*Substitution - NonsenseCentral_nervous_system
COSM1721877c.2524C>Tp.P842SSubstitution - MissenseSkin
COSM254672c.4352A>Tp.H1451LSubstitution - MissenseOesophagus
COSM4777992c.4739T>Cp.L1580PSubstitution - MissenseProstate
COSM320129c.5189C>Tp.S1730FSubstitution - MissenseLung
COSM96433c.5095delAp.N1700fs*9Deletion - FrameshiftLarge_intestine
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseOesophagus
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseLung
COSM5483073c.1612A>Cp.N538HSubstitution - MissenseLarge_intestine
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseLarge_intestine
COSM88790c.4408delAp.M1470fs*26Deletion - FrameshiftStomach
COSM4774848c.5359G>Tp.A1787SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1205367c.5956C>Gp.P1986ASubstitution - MissenseLarge_intestine
COSM5352297c.?p.R568WSubstitution - MissenseEndometrium
COSM3153108c.1927G>Tp.E643*Substitution - NonsenseLarge_intestine
COSM5047783c.2377C>Gp.Q793ESubstitution - MissenseOesophagus
COSM1291254c.2840T>Cp.I947TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4968836c.6102C>Tp.G2034GSubstitution - coding silentCentral_nervous_system
COSM5945455c.2997+5G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4984325c.3699G>Ap.K1233KSubstitution - coding silentOesophagus
COSM5751997c.5336_5337insTp.I1781fs*102Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM727026c.5633C>Ap.T1878NSubstitution - MissenseLung
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseUpper_aerodigestive_tract
COSM5352316c.?p.R1599HSubstitution - MissenseEndometrium
COSM5680743c.4319C>Gp.P1440RSubstitution - MissenseSoft_tissue
COSM219544c.2957A>Tp.Q986LSubstitution - MissenseBreast
COSM4385735c.1806_1807insAp.R603fs*14Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM445041c.2299C>Tp.Q767*Substitution - NonsenseBreast
COSM88793c.4617+1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM96429c.4025+(28)del3p.?UnknownBreast
COSM5352294c.?p.R353CSubstitution - MissenseEndometrium
COSM5896458c.3781C>Tp.H1261YSubstitution - MissenseSkin
COSM84765c.3671+1G>Ap.?UnknownPancreas
COSM3153140c.3621G>Ap.E1207ESubstitution - coding silentUpper_aerodigestive_tract
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseSkin
COSM1308204c.2482C>Tp.H828YSubstitution - MissenseUrinary_tract
COSM1682288c.4319C>Tp.P1440LSubstitution - MissenseOesophagus
COSM4517821c.4354_4355CC>TTp.P1452FSubstitution - MissenseSkin
COSM5707672c.1542G>Tp.M514ISubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5487677c.3491G>Ap.C1164YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3740444c.1303G>Ap.V435ISubstitution - MissenseLiver
COSM4605343c.4230G>Tp.R1410SSubstitution - MissenseUpper_aerodigestive_tract
COSM4767796c.3183T>Ap.T1061TSubstitution - coding silentLarge_intestine
COSM96433c.5095delAp.N1700fs*9Deletion - FrameshiftBreast
COSM5927911c.1246C>Tp.P416SSubstitution - MissenseSkin
COSM5352295c.?p.R2185QSubstitution - MissenseEndometrium
COSM5368945c.3406T>Cp.S1136PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4833752c.2855C>Gp.S952*Substitution - NonsenseStomach
COSM4476638c.2083C>Tp.R695CSubstitution - MissenseSkin
COSM3785677c.5568G>Ap.T1856TSubstitution - coding silentPancreas
COSM1205369c.4397G>Tp.W1466LSubstitution - MissenseLarge_intestine
COSM88790c.4408delAp.M1470fs*26Deletion - FrameshiftStomach
COSM4385254c.3659C>Gp.S1220CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM235738c.3442_3447delGTCTTTp.V1148_F1149delVFDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM4104444c.7102G>Ap.D2368NSubstitution - MissenseStomach
COSM5608371c.5563C>Tp.P1855SSubstitution - MissenseSkin
COSM5045248c.3549C>Ap.C1183*Substitution - NonsenseOesophagus
COSM5608372c.2011C>Tp.P671SSubstitution - MissenseSkin
COSM4170086c.6626_6637del12p.N2209_Q2213>KComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM5352299c.?p.M1157ISubstitution - MissenseEndometrium
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM1034550c.3841C>Tp.R1281*Substitution - NonsenseEndometrium
COSM96423c.3038A>Gp.E1013GSubstitution - MissenseBreast
COSM3842766c.5854A>Gp.I1952VSubstitution - MissenseBreast
COSM5575223c.5006C>Tp.T1669ISubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM317282c.4453-3C>Gp.?UnknownLung
COSM1034534c.3117G>Ap.P1039PSubstitution - coding silentLiver
COSM4824823c.952C>Gp.P318ASubstitution - MissenseCervix
COSM4104431c.1528+2T>Cp.?UnknownStomach
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4828896c.2437C>Tp.Q813*Substitution - NonsenseCervix
COSM1308206c.4154G>Ap.C1385YSubstitution - MissenseUpper_aerodigestive_tract
COSM1308203c.2245A>Gp.M749VSubstitution - MissenseUrinary_tract
COSM4169967c.1913A>Gp.Y638CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4171090c.89G>Ap.G30DSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3554889c.3641C>Tp.S1214FSubstitution - MissenseSkin
COSM1034568c.4512C>Tp.F1504FSubstitution - coding silentLarge_intestine
COSM318354c.3410G>Tp.R1137LSubstitution - MissenseLung
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM1034515c.936G>Tp.Q312HSubstitution - MissenseEndometrium
COSM1721877c.2524C>Tp.P842SSubstitution - MissenseLarge_intestine
COSM5751372c.5403C>ACp.C1801fs*1Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM5424838c.3501+2T>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4998369c.1470C>Ap.N490KSubstitution - MissensePancreas
COSM4385240c.1442C>Ap.P481QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseStomach
COSM6008648c.2891C>Tp.S964FSubstitution - MissenseProstate
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM88781c.4517G>Tp.G1506VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1308212c.6123C>Gp.L2041LSubstitution - coding silentUrinary_tract
COSM255053c.4377_4388del12p.P1460_L1463delPKRLDeletion - In frameUrinary_tract
COSM3153094c.1268A>Cp.K423TSubstitution - MissenseLarge_intestine
COSM3842762c.4608A>Tp.E1536DSubstitution - MissenseBreast
COSM5057844c.1880C>Tp.A627VSubstitution - MissenseProstate
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseOesophagus
COSM1034540c.3355G>Ap.D1119NSubstitution - MissenseEndometrium
COSM3554893c.5630C>Tp.P1877LSubstitution - MissenseSkin
COSM4681088c.1751T>Cp.V584ASubstitution - MissenseLarge_intestine
COSM4104429c.1109G>Ap.R370HSubstitution - MissenseStomach
COSM1682287c.4066C>Tp.R1356*Substitution - NonsenseCentral_nervous_system
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseUpper_aerodigestive_tract
COSM727029c.4193T>Cp.L1398PSubstitution - MissenseLung
COSM4104433c.2250C>Tp.G750GSubstitution - coding silentStomach
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM4104439c.6048G>Ap.M2016ISubstitution - MissenseStomach
COSM4171092c.2003C>Tp.S668FSubstitution - MissenseSkin
COSM5945458c.3601T>Cp.C1201RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4991532c.4212C>Tp.F1404FSubstitution - coding silentSkin
COSM96428c.3143_3590del448p.I1048fs*30Deletion - FrameshiftPancreas
COSM1177798c.5195G>Ap.R1732HSubstitution - MissenseEndometrium
COSM4385260c.4585C>Tp.R1529*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4833752c.2855C>Gp.S952*Substitution - NonsenseCervix
COSM359759c.3124G>Ap.G1042RSubstitution - MissenseLung
COSM84765c.3671+1G>Ap.?UnknownCervix
COSM3785676c.211G>Cp.V71LSubstitution - MissensePancreas
COSM1034538c.3338A>Tp.E1113VSubstitution - MissenseEndometrium
COSM4300086c.4455T>Ap.D1485ESubstitution - MissenseOesophagus
COSM3554887c.3198C>Tp.Y1066YSubstitution - coding silentSkin
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5352316c.?p.R1599HSubstitution - MissenseEndometrium
COSM96513c.5188delTp.S1730fs*4Deletion - FrameshiftOvary
COSM5608360c.3963C>Tp.V1321VSubstitution - coding silentSkin
COSM4169705c.?p.P925TSubstitution - MissenseLung
COSM1034571c.4933C>Tp.R1645*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385233c.312G>Ap.M104ISubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOvary
COSM3713737c.511G>Tp.A171SSubstitution - MissenseUpper_aerodigestive_tract
COSM1034554c.3853G>Tp.E1285*Substitution - NonsenseEndometrium
COSM3554883c.1664C>Tp.P555LSubstitution - MissenseSkin
COSM1484264c.4352A>Cp.H1451PSubstitution - MissenseBreast
COSM5007088c.5698A>Tp.K1900*Substitution - NonsenseLarge_intestine
COSM5762875c.2091T>Gp.S697RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96432c.?p.?UnknownLarge_intestine
COSM1714419c.1551T>Ap.N517KSubstitution - MissenseSkin
COSM4171998c.?p.C369FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5009342c.3354C>Tp.V1118VSubstitution - coding silentLarge_intestine
COSM4767796c.3183T>Ap.T1061TSubstitution - coding silentBone
COSM4104442c.6720A>Gp.G2240GSubstitution - coding silentStomach
COSM4169966c.2686C>Tp.Q896*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3800225c.3667C>Gp.Q1223ESubstitution - MissenseUrinary_tract
COSM5009621c.2989A>Gp.I997VSubstitution - MissenseLarge_intestine
COSM5393733c.1322G>Ap.S441NSubstitution - MissenseSkin
COSM3153237c.7073C>Tp.P2358LSubstitution - MissenseSkin
COSM1034552c.3842G>Ap.R1281QSubstitution - MissenseEndometrium
COSM4856801c.3709G>Tp.D1237YSubstitution - MissenseCervix
COSM6008973c.4453-2A>Gp.?UnknownLarge_intestine
COSM5945461c.4453-2A>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM296222c.6819T>Gp.V2273VSubstitution - coding silentLarge_intestine
COSM3748173c.4041A>Gp.G1347GSubstitution - coding silentCentral_nervous_system
COSM6005632c.5332G>Tp.G1778WSubstitution - MissenseProstate
COSM4169968c.95-1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1416468c.1759C>Tp.L587FSubstitution - MissenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseUpper_aerodigestive_tract
COSM5225999c.3502-1G>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5751868c.3695C>ACp.S1232fs*6Complex - frameshiftHaematopoietic_and_lymphoid_tissue
COSM1716512c.4540G>Ap.E1514KSubstitution - MissenseOesophagus
COSM3554890c.4099G>Tp.D1367YSubstitution - MissenseSkin
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM255072c.4239_4240insTp.Y1414fs*3Insertion - FrameshiftUrinary_tract
COSM4466772c.1451C>Tp.P484LSubstitution - MissenseSkin
COSM4137485c.3591-6C>Tp.?UnknownOvary
COSM5608370c.5245C>Ap.R1749RSubstitution - coding silentSkin
COSM5608362c.323C>Tp.A108VSubstitution - MissenseSkin
COSM1714420c.2590C>Tp.P864SSubstitution - MissenseSkin
COSM1236625c.2692C>Tp.Q898*Substitution - NonsenseAutonomic_ganglia
COSM274975c.1739G>Ap.R580QSubstitution - MissenseEndometrium
COSM1205371c.1811G>Ap.R604QSubstitution - MissenseLarge_intestine
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseLung
COSM5019909c.6636G>Ap.Q2212QSubstitution - coding silentSoft_tissue
COSM4854311c.6643C>Tp.Q2215*Substitution - NonsenseCervix
COSM384420c.1335_1336GG>TTp.G446CSubstitution - MissenseLung
COSM3842763c.4915C>Tp.L1639LSubstitution - coding silentBreast
COSM3153094c.1268A>Cp.K423TSubstitution - MissenseLarge_intestine
COSM3681448c.5412G>Ap.P1804PSubstitution - coding silentStomach
COSM4913673c.3764A>Tp.H1255LSubstitution - MissenseLiver
COSM1682288c.4319C>Tp.P1440LSubstitution - MissenseSoft_tissue
COSM4387478c.6668A>Cp.Q2223PSubstitution - MissenseSoft_tissue
COSM254673c.4561G>Cp.E1521QSubstitution - MissenseUrinary_tract
COSM1416492c.5485C>Tp.R1829CSubstitution - MissenseProstate
COSM3153146c.3701_3702insAp.N1236fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseSoft_tissue
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseUpper_aerodigestive_tract
COSM254667c.4454A>Tp.D1485VSubstitution - MissenseUrinary_tract
COSM3153075c.378G>Tp.M126ISubstitution - MissenseLung
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4385236c.748C>Tp.P250SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM318348c.4186T>Cp.S1396PSubstitution - MissenseLung
COSM478996c.498C>Ap.N166KSubstitution - MissenseKidney
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseOesophagus
COSM4137484c.2092G>Cp.V698LSubstitution - MissenseOvary
COSM1566439c.6964delCp.H2324fs*29Deletion - FrameshiftLarge_intestine
COSM4104437c.5209C>Tp.R1737CSubstitution - MissenseStomach
COSM4681090c.1844T>Gp.V615GSubstitution - MissenseLarge_intestine
COSM5749630c.5608C>Tp.Q1870*Substitution - NonsenseGenital_tract
COSM88786c.6523A>Cp.M2175LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5652357c.6792C>Tp.L2264LSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM1682285c.2282A>Gp.Q761RSubstitution - MissenseLarge_intestine
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseLarge_intestine
COSM5366488c.454G>Tp.G152CSubstitution - MissenseLarge_intestine
COSM3964349c.2132-2A>Gp.?UnknownLung
COSM5352296c.?p.V279ASubstitution - MissenseEndometrium
COSM96430c.3591_3728del138p.Y1198_L1243delDeletion - In frameBreast
COSM4849197c.5155C>Tp.Q1719*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5046777c.3604G>Cp.E1202QSubstitution - MissenseOesophagus
COSM1682284c.1393G>Tp.E465*Substitution - NonsenseLarge_intestine
COSM85623c.4461_4462insTp.K1488fs*1Insertion - FrameshiftPancreas
COSM299838c.1145G>Ap.C382YSubstitution - MissenseLarge_intestine
COSM1416472c.2845G>Tp.G949*Substitution - NonsenseLarge_intestine
COSM1484262c.1501_1502insGp.Q501fs*12Insertion - FrameshiftBreast
COSM389441c.3900C>Tp.T1300TSubstitution - coding silentLung
COSM88788c.187C>Tp.Q63*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM254672c.4352A>Tp.H1451LSubstitution - MissenseUrinary_tract
COSM4991528c.3220C>Tp.P1074SSubstitution - MissenseSkin
COSM3842765c.5748A>Cp.P1916PSubstitution - coding silentBreast
COSM3554886c.2599C>Tp.P867SSubstitution - MissenseSkin
COSM359758c.2707G>Tp.A903SSubstitution - MissenseLung
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseUpper_aerodigestive_tract
COSM5009814c.3087G>Ap.Q1029QSubstitution - coding silentLarge_intestine
COSM254667c.4454A>Tp.D1485VSubstitution - MissenseUrinary_tract
COSM1034562c.4189T>Gp.Y1397DSubstitution - MissenseEndometrium
COSM96513c.5188delTp.S1730fs*4Deletion - FrameshiftOvary
COSM5049517c.4858C>Tp.P1620SSubstitution - MissenseOesophagus
COSM5020743c.7177C>Gp.L2393VSubstitution - MissenseSoft_tissue
COSM4385268c.7114A>Gp.M2372VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4997190c.2407G>Cp.V803LSubstitution - MissenseUpper_aerodigestive_tract
COSM318352c.3875-2A>Gp.?UnknownLung
COSM5945459c.3682A>Tp.K1228*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM255054c.644_654del11p.G216fs*2Deletion - FrameshiftUrinary_tract
COSM4387473c.4505C>Tp.P1502LSubstitution - MissenseSkin
COSM5936703c.5404C>Tp.P1802SSubstitution - MissenseSkin
COSM5458947c.1854C>Tp.D618DSubstitution - coding silentLarge_intestine
COSM1308202c.1891C>Gp.H631DSubstitution - MissenseUrinary_tract
COSM5944414c.6567_6571delGCAACp.M2189fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseCervix
COSM1682285c.2282A>Gp.Q761RSubstitution - MissenseLarge_intestine
COSM88790c.4408delAp.M1470fs*26Deletion - FrameshiftLarge_intestine
COSM88793c.4617+1G>Ap.?UnknownLiver
COSM1034564c.4352A>Gp.H1451RSubstitution - MissenseEndometrium
COSM3842760c.1440G>Ap.M480ISubstitution - MissenseBreast
COSM96433c.5095delAp.N1700fs*9Deletion - FrameshiftLarge_intestine
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM96431c.5061+2T>Ap.?UnknownBreast
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM4790209c.5638C>Ap.P1880TSubstitution - MissenseLiver
COSM4914243c.2469T>Cp.P823PSubstitution - coding silentLiver
COSM5048404c.6877C>Ap.H2293NSubstitution - MissenseOesophagus
COSM88790c.4408delAp.M1470fs*26Deletion - FrameshiftLarge_intestine
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseOesophagus
COSM4104430c.1442C>Tp.P481LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM317284c.4123G>Cp.G1375RSubstitution - MissenseLung
COSM1163312c.2546T>Cp.I849TSubstitution - MissensePancreas
COSM4856715c.4934G>Ap.R1645QSubstitution - MissenseCervix
COSM88793c.4617+1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM269098c.2512C>Tp.R838CSubstitution - MissenseLarge_intestine
COSM97816c.4154G>Tp.C1385FSubstitution - MissenseLung
COSM291806c.1810C>Gp.R604GSubstitution - MissenseLarge_intestine
COSM3153105c.1777C>Tp.P593SSubstitution - MissenseSkin
COSM3740445c.4301A>Gp.H1434RSubstitution - MissenseLiver
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5945454c.2241+5G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM5350690c.7065G>Tp.Q2355HSubstitution - MissenseLung
COSM1682289c.4751T>Gp.L1584RSubstitution - MissenseLarge_intestine
COSM3153189c.4981C>Tp.Q1661*Substitution - NonsenseLarge_intestine
COSM5900429c.6628C>Tp.Q2210*Substitution - NonsenseSkin
COSM3153131c.3135G>Tp.K1045NSubstitution - MissenseLarge_intestine
COSM3153235c.6963_6964insCp.H2324fs*55Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5439929c.1965G>Cp.Q655HSubstitution - MissenseOesophagus
COSM5424838c.3501+2T>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM318353c.3358G>Tp.D1120YSubstitution - MissenseLung
COSM1284744c.2743C>Tp.R915CSubstitution - MissenseAutonomic_ganglia
COSM221269c.1244T>Cp.L415PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM145369c.5368T>Gp.C1790GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1308213c.6174C>Gp.L2058LSubstitution - coding silentUrinary_tract
COSM1205373c.3548G>Ap.C1183YSubstitution - MissenseLarge_intestine
COSM3912893c.4060C>Tp.P1354SSubstitution - MissenseSkin
COSM3153235c.6963_6964insCp.H2324fs*55Insertion - FrameshiftLarge_intestine
COSM5424838c.3501+2T>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM727027c.4893C>Tp.L1631LSubstitution - coding silentLung
COSM5452326c.2111C>Tp.P704LSubstitution - MissenseLarge_intestine
COSM6005790c.3135G>Cp.K1045NSubstitution - MissenseSkin
COSM1644572c.4286+1G>Tp.?UnknownSalivary_gland
COSM1308214c.6754G>Tp.E2252*Substitution - NonsenseCervix
COSM4171091c.787C>Gp.Q263ESubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4432631c.5958G>Ap.P1986PSubstitution - coding silentOesophagus
COSM5608368c.2351C>Tp.P784LSubstitution - MissenseSkin
COSM4104434c.3591-1G>Tp.?UnknownLarge_intestine
COSM4104434c.3591-1G>Tp.?UnknownStomach
COSM1034579c.6892C>Tp.Q2298*Substitution - NonsenseEndometrium
COSM3153134c.3240C>Tp.D1080DSubstitution - coding silentOesophagus
COSM1495212c.6226G>Tp.A2076SSubstitution - MissenseKidney
COSM255072c.4239_4240insTp.Y1414fs*3Insertion - FrameshiftUrinary_tract
COSM4767796c.3183T>Ap.T1061TSubstitution - coding silentLarge_intestine
COSM88791c.4636delAp.N1547fs*17Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM97816c.4154G>Tp.C1385FSubstitution - MissenseOesophagus
COSM3694076c.1282+1G>Ap.?UnknownLarge_intestine
COSM5021083c.4311A>Cp.A1437ASubstitution - coding silentSoft_tissue
COSM1205368c.2921A>Gp.Q974RSubstitution - MissenseLarge_intestine
COSM1416475c.3416A>Gp.Y1139CSubstitution - MissenseLarge_intestine
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1416478c.3831G>Tp.K1277NSubstitution - MissenseLarge_intestine
COSM6005518c.637G>Ap.G213RSubstitution - MissenseProstate
COSM4450101c.4453-1G>Ap.?UnknownSkin
COSM350324c.4391A>Tp.Q1464LSubstitution - MissenseLung
COSM96421c.1738C>Tp.R580*Substitution - NonsenseLarge_intestine
COSM5047562c.3778_3780delCTTp.L1260delLDeletion - In frameOesophagus
COSM5415056c.6163_6164insCp.L2055fs*18Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5366372c.6912_6915delCAATp.N2305fs*47Deletion - FrameshiftLarge_intestine
COSM5608367c.4712C>Tp.P1571LSubstitution - MissenseSkin
COSM274975c.1739G>Ap.R580QSubstitution - MissenseLarge_intestine
COSM96511c.3040G>Tp.E1014*Substitution - NonsenseLarge_intestine
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1308211c.6004C>Gp.Q2002ESubstitution - MissenseUrinary_tract
COSM419538c.4227G>Cp.L1409FSubstitution - MissenseUrinary_tract
COSM5057844c.1880C>Tp.A627VSubstitution - MissenseProstate
COSM4979790c.4065C>Gp.Y1355*Substitution - NonsenseOesophagus
COSM4681091c.3603T>Cp.C1201CSubstitution - coding silentLarge_intestine
COSM187709c.1702C>Tp.R568WSubstitution - MissenseSalivary_gland
COSM4387473c.4505C>Tp.P1502LSubstitution - MissenseOesophagus
COSM5587723c.183T>Cp.I61ISubstitution - coding silentSkin
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3153106c.1781C>Tp.T594MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034560c.4051G>Tp.E1351*Substitution - NonsenseEndometrium
COSM1205374c.5585A>Cp.Q1862PSubstitution - MissenseLarge_intestine
COSM4387469c.4307G>Tp.W1436LSubstitution - MissenseOesophagus
COSM145369c.5368T>Gp.C1790GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3713703c.6856C>Ap.P2286TSubstitution - MissenseUpper_aerodigestive_tract
COSM1416495c.5862C>Tp.H1954HSubstitution - coding silentLarge_intestine
COSM4002191c.3348G>Ap.Q1116QSubstitution - coding silentLarge_intestine
COSM4774860c.5109C>Tp.H1703HSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM5009341c.260C>Ap.S87YSubstitution - MissenseLarge_intestine
COSM5010152c.3882A>Gp.P1294PSubstitution - coding silentLarge_intestine
COSM5608363c.2293C>Tp.L765FSubstitution - MissenseSkin
COSM1416492c.5485C>Tp.R1829CSubstitution - MissenseLarge_intestine
COSM3153140c.3621G>Ap.E1207ESubstitution - coding silentUpper_aerodigestive_tract
COSM4818071c.842C>Gp.S281*Substitution - NonsenseCervix
COSM4973677c.6004C>Tp.Q2002*Substitution - NonsenseOesophagus
COSM1660059c.1138A>Gp.T380ASubstitution - MissenseKidney
COSM4603912c.2313_2314insTp.S772fs*27Insertion - FrameshiftUpper_aerodigestive_tract
COSM1651571c.6970_6971insCp.H2324fs*55Insertion - FrameshiftStomach
COSM5442150c.4867C>Tp.L1623LSubstitution - coding silentOesophagus
COSM4385247c.2645C>Gp.P882RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5501573c.2858A>Gp.N953SSubstitution - MissenseBiliary_tract
COSM1416470c.1784C>Tp.P595LSubstitution - MissenseLarge_intestine
COSM5783822c.1101C>Gp.P367PSubstitution - coding silentBreast
COSM1661669c.419C>Tp.T140ISubstitution - MissenseKidney
COSM4501287c.584C>Tp.S195LSubstitution - MissenseSkin
COSM4170086c.6626_6637del12p.N2209_Q2213>KComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM88785c.5711A>Cp.Q1904PSubstitution - MissenseSkin
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM4455339c.736A>Tp.M246LSubstitution - MissenseSkin
COSM5968058c.5962G>Tp.G1988WSubstitution - MissenseGenital_tract
COSM5366624c.2352G>Ap.P784PSubstitution - coding silentLarge_intestine
COSM255054c.644_654del11p.G216fs*2Deletion - FrameshiftUrinary_tract
COSM5057844c.1880C>Tp.A627VSubstitution - MissenseStomach
COSM1196512c.4310C>Tp.A1437VSubstitution - MissenseLung
COSM6008930c.3971G>Ap.R1324KSubstitution - MissenseLarge_intestine
COSM727025c.6367G>Tp.G2123WSubstitution - MissenseLung
COSM88777c.1519A>Gp.S507GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM96440c.256C>Tp.R86*Substitution - NonsenseLarge_intestine
COSM4448719c.1203delAp.H402fs*29Deletion - FrameshiftSkin
COSM4300068c.1681C>Tp.Q561*Substitution - NonsenseCervix
COSM1308205c.2485C>Tp.Q829*Substitution - NonsenseUrinary_tract
COSM4634806c.5791C>Tp.Q1931*Substitution - NonsenseLarge_intestine
COSM220521c.4399T>Ap.Y1467NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96456c.?p.P925LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5352315c.?p.M187LSubstitution - MissenseEndometrium
COSM1190460c.4955T>Cp.M1652TSubstitution - MissenseLung
COSM3153142c.3663G>Ap.Q1221QSubstitution - coding silentUpper_aerodigestive_tract
COSM5647885c.202C>Gp.L68VSubstitution - MissenseOesophagus
COSM1714418c.1099_1100CC>TTp.P367FSubstitution - MissenseSkin
COSM1616489c.726_729+1delTAAGGp.?UnknownLiver
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseUrinary_tract
COSM96511c.3040G>Tp.E1014*Substitution - NonsenseLarge_intestine
COSM1566442c.942C>Tp.G314GSubstitution - coding silentLarge_intestine
COSM1716512c.4540G>Ap.E1514KSubstitution - MissenseOesophagus
COSM1682288c.4319C>Tp.P1440LSubstitution - MissenseLung
COSM5944414c.6567_6571delGCAACp.M2189fs*19Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM88789c.2461C>Tp.Q821*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5985126c.?p.S1037LSubstitution - MissenseSalivary_gland
COSM4843126c.1942C>Tp.R648*Substitution - NonsenseCervix
COSM4479718c.2350C>Tp.P784SSubstitution - MissenseSkin
COSM4385245c.2456G>Ap.C819YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4387468c.4115G>Ap.C1372YSubstitution - MissenseOesophagus
COSM1308210c.5364C>Gp.L1788LSubstitution - coding silentUrinary_tract
COSM1034546c.3684A>Cp.K1228NSubstitution - MissenseEndometrium
COSM5945453c.1336G>Tp.G446CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM254669c.4662G>Cp.K1554NSubstitution - MissenseUrinary_tract
COSM479000c.6643C>Ap.Q2215KSubstitution - MissenseKidney
COSM254666c.2620C>Tp.Q874*Substitution - NonsenseUrinary_tract
COSM1205375c.6645A>Cp.Q2215HSubstitution - MissenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5674886c.5305A>Gp.K1769ESubstitution - MissenseSoft_tissue
COSM96426c.1623-(43)del3p.?UnknownLung
COSM217240c.1169T>Gp.V390GSubstitution - MissenseLiver
COSM5944158c.5873C>Tp.P1958LSubstitution - MissenseBone
COSM1416477c.3731T>Gp.F1244CSubstitution - MissenseLarge_intestine
COSM5683741c.4389_4397delGCAGGAATGp.Q1464_W1466delQEWDeletion - In frameSoft_tissue
COSM27189c.5850G>Tp.R1950SSubstitution - MissenseLung
COSM280814c.3641C>Ap.S1214YSubstitution - MissenseLarge_intestine
COSM1034571c.4933C>Tp.R1645*Substitution - NonsenseEndometrium
COSM5707678c.4471A>Tp.T1491SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM727034c.769T>Gp.Y257DSubstitution - MissenseLung
COSM4385256c.4102G>Ap.G1368SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4883298c.1659G>Ap.L553LSubstitution - coding silentUpper_aerodigestive_tract
COSM318351c.3996C>Tp.T1332TSubstitution - coding silentLung
COSM4991524c.961C>Tp.Q321*Substitution - NonsenseSkin
COSM1495211c.6597A>Gp.P2199PSubstitution - coding silentKidney
COSM1661671c.7109A>Tp.N2370ISubstitution - MissenseKidney
COSM1682284c.1393G>Tp.E465*Substitution - NonsenseLarge_intestine
COSM4777522c.4198A>Gp.S1400GSubstitution - MissenseBreast
COSM5988213c.1865C>Tp.S622FSubstitution - MissenseSalivary_gland
COSM3842761c.4161A>Cp.P1387PSubstitution - coding silentBreast
COSM217240c.1169T>Gp.V390GSubstitution - MissenseLiver
COSM5393735c.3262G>Ap.D1088NSubstitution - MissenseSkin
COSM254670c.6883C>Ap.Q2295KSubstitution - MissenseUrinary_tract
COSM1034532c.2820T>Gp.L940LSubstitution - coding silentEndometrium
COSM3554891c.4992C>Tp.D1664DSubstitution - coding silentSkin
COSM5707679c.4843delCp.P1615fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716512c.4540G>Ap.E1514KSubstitution - MissenseLung
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM127889c.1881G>Ap.A627ASubstitution - coding silentUpper_aerodigestive_tract
COSM419540c.49A>Gp.K17ESubstitution - MissenseUrinary_tract
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseUpper_aerodigestive_tract
COSM1251229c.1636G>Ap.E546KSubstitution - MissenseStomach
COSM96511c.3040G>Tp.E1014*Substitution - NonsenseLarge_intestine
COSM4778381c.3074A>Gp.E1025GSubstitution - MissenseLiver
COSM84765c.3671+1G>Ap.?UnknownStomach
COSM88793c.4617+1G>Ap.?UnknownSoft_tissue
COSM4104430c.1442C>Tp.P481LSubstitution - MissenseStomach
COSM5611262c.2639_2641CCC>TTTp.P880_P881>LSComplex - compound substitutionSkin
COSM1034536c.3302C>Tp.T1101ISubstitution - MissenseEndometrium
COSM1308214c.6754G>Tp.E2252*Substitution - NonsenseUrinary_tract
COSM3842759c.1349C>Tp.A450VSubstitution - MissenseBreast
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseUpper_aerodigestive_tract
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseCentral_nervous_system
COSM445042c.5553T>Cp.T1851TSubstitution - coding silentSkin
COSM3554884c.1897C>Tp.L633LSubstitution - coding silentSkin
COSM4943269c.7138C>Gp.P2380ASubstitution - MissenseBreast
COSM254668c.2470C>Tp.Q824*Substitution - NonsenseUrinary_tract
COSM1682288c.4319C>Tp.P1440LSubstitution - MissenseLarge_intestine
COSM1308209c.5217C>Gp.I1739MSubstitution - MissenseUrinary_tract
COSM320130c.4114T>Cp.C1372RSubstitution - MissenseLung
COSM1235225c.6584A>Gp.Q2195RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1471496c.6262C>Tp.R2088WSubstitution - MissenseProstate
COSM3153069c.89G>Tp.G30VSubstitution - MissenseLarge_intestine
COSM254671c.193C>Tp.Q65*Substitution - NonsenseUrinary_tract
COSM254669c.4662G>Cp.K1554NSubstitution - MissenseUrinary_tract
COSM5726504c.1462G>Ap.A488TSubstitution - MissenseSkin
COSM4385243c.2297C>Tp.P766LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4385246c.2512C>Ap.R838SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM13867c.4355C>Tp.P1452LSubstitution - MissenseOesophagus
COSM3153135c.3241C>Tp.P1081SSubstitution - MissenseOesophagus
COSM78937c.3934C>Tp.R1312*Substitution - NonsenseOvary
COSM4978064c.4398G>Cp.W1466CSubstitution - MissenseOesophagus
COSM4991526c.1015C>Tp.Q339*Substitution - NonsenseSkin
COSM419539c.3284G>Tp.S1095ISubstitution - MissenseUrinary_tract
COSM4804090c.1401C>Gp.A467ASubstitution - coding silentLiver
COSM445043c.6023C>Tp.S2008FSubstitution - MissenseBreast
COSM4681093c.4382A>Gp.K1461RSubstitution - MissenseLarge_intestine
COSM1034519c.1529-2A>Gp.?UnknownEndometrium
COSM255053c.4377_4388del12p.P1460_L1463delPKRLDeletion - In frameUrinary_tract
COSM445040c.18G>Ap.V6VSubstitution - coding silentBreast
COSM5021106c.678C>Gp.G226GSubstitution - coding silentSoft_tissue
COSM4385232c.38C>Tp.A13VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4602263c.6019C>Tp.Q2007*Substitution - NonsenseUpper_aerodigestive_tract
COSM88783c.4796G>Ap.R1599HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96425c.6662C>Ap.P2221QSubstitution - MissenseLarge_intestine
COSM3153235c.6963_6964insCp.H2324fs*55Insertion - FrameshiftLarge_intestine
COSM318350c.3270T>Ap.F1090LSubstitution - MissenseLung
COSM4681094c.5810A>Gp.E1937GSubstitution - MissenseLarge_intestine
COSM4776416c.6630_6643del14p.F2211fs*86Deletion - FrameshiftSoft_tissue
COSM109661c.4933C>Ap.R1645RSubstitution - coding silentSkin
COSM187721c.4886C>Tp.A1629VSubstitution - MissenseEndometrium
COSM4385241c.1672A>Gp.T558ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseCervix
COSM5352289c.?p.T594MSubstitution - MissenseEndometrium
COSM3153099c.1443G>Ap.P481PSubstitution - coding silentCervix
COSM4385260c.4585C>Tp.R1529*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5452886c.1155C>Tp.G385GSubstitution - coding silentLarge_intestine
COSM5494219c.123C>Tp.H41HSubstitution - coding silentBiliary_tract
COSM5509226c.3345G>Tp.W1115CSubstitution - MissenseBiliary_tract
COSM5945464c.6889C>Tp.Q2297*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5945460c.4398G>Ap.W1466*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1658811c.4880delGp.D1628fs*81Deletion - FrameshiftSalivary_gland
COSM4104432c.2241G>Ap.P747PSubstitution - coding silentStomach
COSM4466563c.1441C>Tp.P481SSubstitution - MissenseSkin
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseOesophagus
COSM3153169c.4402delAp.M1470fs*26Deletion - FrameshiftLarge_intestine
COSM3405689c.4111C>Tp.L1371LSubstitution - coding silentCentral_nervous_system
COSM5630366c.6434T>Ap.L2145QSubstitution - MissenseOesophagus
COSM5945456c.3425G>Tp.C1142FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4104435c.4067G>Ap.R1356QSubstitution - MissenseStomach
COSM5751555c.6798_6800delGCAp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM5745498c.4432C>Tp.R1478CSubstitution - MissensePancreas
COSM3972987c.4353T>Cp.H1451HSubstitution - coding silentCentral_nervous_system
COSM5921846c.2296C>Tp.P766SSubstitution - MissenseSkin
COSM1416476c.3729-2A>Tp.?UnknownLarge_intestine
COSM88788c.187C>Tp.Q63*Substitution - NonsenseSkin
COSM3357343c.4312T>Cp.C1438RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96440c.256C>Tp.R86*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5707670c.968delTp.M323fs*39Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4387473c.4505C>Tp.P1502LSubstitution - MissenseSkin
COSM6008649c.4345C>Tp.H1449YSubstitution - MissenseProstate
COSM4104429c.1109G>Ap.R370HSubstitution - MissenseLarge_intestine
COSM1659917c.1608C>Tp.A536ASubstitution - coding silentKidney
COSM727030c.4173-2A>Gp.?UnknownLung
COSM5608361c.3589A>Tp.R1197WSubstitution - MissenseSkin
COSM187721c.4886C>Tp.A1629VSubstitution - MissenseEndometrium
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5945457c.3488G>Ap.C1163YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3681448c.5412G>Ap.P1804PSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM4169964c.6776C>Tp.A2259VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4387046c.2534C>Gp.T845SSubstitution - MissenseLung
COSM5009882c.2240C>Tp.P747LSubstitution - MissenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseLiver
COSM5937892c.2536C>Tp.P846SSubstitution - MissenseSkin
COSM274975c.1739G>Ap.R580QSubstitution - MissenseLarge_intestine
COSM97816c.4154G>Tp.C1385FSubstitution - MissenseUpper_aerodigestive_tract
COSM3554894c.5947G>Ap.G1983RSubstitution - MissenseSkin
COSM4976918c.4135C>Tp.Q1379*Substitution - NonsenseOesophagus
COSM6018268c.2661A>Cp.T887TSubstitution - coding silentSkin
COSM220521c.4399T>Ap.Y1467NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5974397c.4398G>Tp.W1466CSubstitution - MissenseUpper_aerodigestive_tract
COSM4958210c.2109G>Ap.M703ISubstitution - MissenseLiver
COSM96420c.5038C>Tp.R1680CSubstitution - MissenseLarge_intestine
COSM221269c.1244T>Cp.L415PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM88786c.6523A>Cp.M2175LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM96435c.(4025)ins18p.(1409)ins6Insertion - In frameBreast
COSM1034534c.3117G>Ap.P1039PSubstitution - coding silentEndometrium
COSM4387475c.4538T>Cp.L1513PSubstitution - MissenseOesophagus
COSM4171094c.4448A>Gp.Y1483CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1308206c.4154G>Ap.C1385YSubstitution - MissenseUrinary_tract
COSM254666c.2620C>Tp.Q874*Substitution - NonsenseUrinary_tract
COSM3842758c.775C>Tp.Q259*Substitution - NonsenseBreast
COSM254666c.2620C>Tp.Q874*Substitution - NonsenseUrinary_tract
COSM4775084c.7219T>Cp.S2407PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM318349c.4508A>Cp.Y1503SSubstitution - MissenseOesophagus
COSM4171998c.?p.C369FSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034528c.2124A>Gp.P708PSubstitution - coding silentEndometrium
COSM1566439c.6964delCp.H2324fs*29Deletion - FrameshiftStomach
COSM5352292c.?p.R705QSubstitution - MissenseEndometrium
COSM4104436c.4388T>Gp.L1463RSubstitution - MissenseStomach
COSM88776c.376A>Gp.M126VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1658789c.3742_3743delACp.T1248fs*15Deletion - FrameshiftSalivary_gland
COSM4929999c.7131T>Cp.A2377ASubstitution - coding silentLiver
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM1034556c.3977T>Cp.V1326ASubstitution - MissenseEndometrium
COSM4387473c.4505C>Tp.P1502LSubstitution - MissenseOesophagus
COSM5554838c.5579G>Ap.G1860DSubstitution - MissenseProstate
COSM1484261c.980C>Tp.A327VSubstitution - MissenseBreast
COSM1741518c.2532_2533insTp.T845fs*64Insertion - FrameshiftUrinary_tract
COSM88793c.4617+1G>Ap.?UnknownOesophagus
COSM4104443c.6880C>Ap.L2294ISubstitution - MissenseStomach
COSM3153084c.871delAp.K292fs*25Deletion - FrameshiftLarge_intestine
COSM5024940c.6255C>Gp.I2085MSubstitution - MissenseBreast
COSM4104440c.6413C>Tp.A2138VSubstitution - MissenseStomach
COSM5732949c.6244G>Ap.A2082TSubstitution - MissensePancreas
COSM1742634c.4453-1G>Cp.?UnknownUrinary_tract
COSM3424203c.4864G>Ap.D1622NSubstitution - MissenseLarge_intestine
COSM5094809c.2680_2681insTp.P894fs*15Insertion - FrameshiftThymus
COSM4628039c.6117C>Tp.S2039SSubstitution - coding silentLarge_intestine
COSM1566439c.6964delCp.H2324fs*29Deletion - FrameshiftLarge_intestine
COSM1034509c.95-2A>Gp.?UnknownEndometrium
COSM3731970c.6949C>Tp.R2317WSubstitution - MissenseStomach
COSM4385263c.5635C>Tp.P1879SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4957844c.6223C>Ap.H2075NSubstitution - MissenseLiver
COSM4747060c.7012_7014delCACp.H2339delHDeletion - In frameStomach
COSM4991537c.6950G>Ap.R2317QSubstitution - MissenseSkin
COSM139231c.6907C>Tp.L2303FSubstitution - MissenseSkin
COSM4385234c.394A>Tp.T132SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5682854c.1981G>Ap.A661TSubstitution - MissenseSoft_tissue
COSM4385249c.2761G>Ap.A921TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM317283c.3857A>Gp.N1286SSubstitution - MissenseSoft_tissue
COSM4385259c.4316C>Ap.P1439QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM254671c.193C>Tp.Q65*Substitution - NonsenseUrinary_tract
COSM4898642c.4918G>Tp.E1640*Substitution - NonsenseSkin
COSM5944806c.5009_5010insGp.C1670fs*3Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1034513c.746A>Gp.N249SSubstitution - MissenseEndometrium
COSM4991531c.4136A>Gp.Q1379RSubstitution - MissenseSkin
COSM5707674c.1933G>Tp.E645*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4681087c.1369A>Gp.S457GSubstitution - MissenseLarge_intestine
COSM320131c.4364A>Gp.Q1455RSubstitution - MissenseLung
COSM254672c.4352A>Tp.H1451LSubstitution - MissenseUrinary_tract
COSM4385248c.2668A>Cp.T890PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034544c.3560G>Ap.R1187HSubstitution - MissenseEndometrium
COSM5894123c.724C>Tp.L242FSubstitution - MissenseSkin
COSM1034524c.1778C>Ap.P593HSubstitution - MissenseEndometrium
COSM5789312c.4228A>Tp.R1410WSubstitution - MissenseBreast
COSM5494220c.5931_5932insTp.G1978fs*95Insertion - FrameshiftBiliary_tract
COSM6019050c.730-20_730-10delCTTTTGTTTCTp.?UnknownSkin
COSM4385250c.3127C>Tp.Q1043*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5366488c.454G>Tp.G152CSubstitution - MissenseLarge_intestine
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseCentral_nervous_system
COSM5444054c.4576G>Ap.E1526KSubstitution - MissenseOesophagus
COSM220522c.4399T>Cp.Y1467HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM305992c.4916T>Cp.L1639PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5818110c.3052G>Tp.E1018*Substitution - NonsenseLiver
COSM4435124c.4505C>Gp.P1502RSubstitution - MissenseOesophagus
COSM220522c.4399T>Cp.Y1467HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4610704c.4606G>Ap.E1536KSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseLung
COSM1661670c.4519G>Ap.D1507NSubstitution - MissenseOesophagus
COSM96433c.5095delAp.N1700fs*9Deletion - FrameshiftLarge_intestine
COSM1034530c.2789C>Tp.P930LSubstitution - MissenseEndometrium
COSM4385265c.6796_6798delCAGp.Q2268delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM3153122c.2671A>Cp.T891PSubstitution - MissenseSoft_tissue
COSM4385252c.3566C>Tp.A1189VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM88792c.4025+1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM6018269c.3259C>Tp.P1087SSubstitution - MissenseSkin
COSM4385237c.764C>Tp.S255LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseLarge_intestine
COSM5608369c.7048G>Cp.G2350RSubstitution - MissenseSkin
COSM4404560c.3360T>Cp.D1120DSubstitution - coding silentSkin
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseCervix
COSM96513c.5188delTp.S1730fs*4Deletion - FrameshiftOvary
COSM4170086c.6626_6637del12p.N2209_Q2213>KComplex - deletion inframeHaematopoietic_and_lymphoid_tissue
COSM4991534c.4511T>Cp.F1504SSubstitution - MissenseSkin
COSM4002191c.3348G>Ap.Q1116QSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM4790209c.5638C>Ap.P1880TSubstitution - MissenseLiver
COSM4171996c.?p.?UnknownHaematopoietic_and_lymphoid_tissue
COSM255052c.4372_4377delCCCAAGp.P1460_K1461delPKDeletion - In frameUrinary_tract
COSM1034581c.6950G>Tp.R2317LSubstitution - MissenseEndometrium
COSM3713703c.6856C>Ap.P2286TSubstitution - MissenseUpper_aerodigestive_tract
COSM4603934c.4617+1_4617+2insTp.?UnknownUpper_aerodigestive_tract
COSM96543c.?p.Q2210_Q2213delDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM1484263c.2498C>Tp.S833LSubstitution - MissenseBreast
COSM4171093c.4347T>Gp.H1449QSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5024939c.6114C>Gp.I2038MSubstitution - MissenseBreast
COSM5366485c.4351C>Ap.H1451NSubstitution - MissenseLarge_intestine
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseUrinary_tract
COSM1661670c.4519G>Ap.D1507NSubstitution - MissenseOesophagus
COSM3964350c.2830G>Tp.A944SSubstitution - MissenseLung
COSM4991533c.4213C>Tp.R1405CSubstitution - MissenseSkin
COSM5714191c.1741A>Cp.N581HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1651571c.6970_6971insCp.H2324fs*55Insertion - FrameshiftLarge_intestine
COSM5047351c.3806+1G>Ap.?UnknownOesophagus
COSM4385264c.6266C>Gp.A2089GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1205370c.1651C>Tp.P551SSubstitution - MissenseLarge_intestine
COSM1166774c.5056_5057delTGp.C1686fs*1Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM254667c.4454A>Tp.D1485VSubstitution - MissenseUrinary_tract
COSM4385255c.3788A>Tp.E1263VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseOesophagus
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseUpper_aerodigestive_tract
COSM4396197c.656T>Cp.L219PSubstitution - MissenseSkin
COSM4169705c.?p.P925TSubstitution - MissenseAdrenal_gland
COSM274975c.1739G>Ap.R580QSubstitution - MissenseStomach
COSM187721c.4886C>Tp.A1629VSubstitution - MissenseLarge_intestine
COSM3363712c.1836T>Cp.A612ASubstitution - coding silentKidney
COSM4831595c.3849G>Tp.R1283SSubstitution - MissenseCervix
COSM4804090c.1401C>Gp.A467ASubstitution - coding silentLiver
COSM4385269c.7126C>Ap.L2376ISubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1416490c.5193C>Tp.R1731RSubstitution - coding silentLarge_intestine
COSM1205372c.5807C>Tp.A1936VSubstitution - MissenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM5752091c.4879_4880insTp.R1627fs*46Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4387477c.4724_4759del36p.N1575_A1586delDeletion - In frameOesophagus
COSM5020527c.1168+7G>Cp.?UnknownSoft_tissue
COSM5439144c.4076C>Tp.A1359VSubstitution - MissenseOesophagus
COSM4943270c.7192G>Ap.D2398NSubstitution - MissenseBreast
COSM5608366c.930C>Tp.V310VSubstitution - coding silentSkin
COSM4984100c.512C>Tp.A171VSubstitution - MissenseOesophagus
COSM4767796c.3183T>Ap.T1061TSubstitution - coding silentBiliary_tract
COSM220523c.4492G>Ap.A1498TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM235738c.3442_3447delGTCTTTp.V1148_F1149delVFDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM3153141c.3648G>Tp.G1216GSubstitution - coding silentUpper_aerodigestive_tract
COSM254670c.6883C>Ap.Q2295KSubstitution - MissenseUrinary_tract
COSM4605375c.4368G>Cp.K1456NSubstitution - MissenseUpper_aerodigestive_tract
COSM88777c.1519A>Gp.S507GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96511c.3040G>Tp.E1014*Substitution - NonsenseLarge_intestine
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM88779c.2773C>Ap.P925TSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5487620c.3805G>Tp.G1269*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4385258c.4183_4184delATp.S1396fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5047451c.4527G>Cp.W1509CSubstitution - MissenseOesophagus
COSM3842764c.5528A>Cp.Q1843PSubstitution - MissenseBreast
COSM4774852c.3667C>Tp.Q1223*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM3153139c.3602G>Ap.C1201YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1416465c.444G>Ap.T148TSubstitution - coding silentLarge_intestine
COSM5575223c.5006C>Tp.T1669ISubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM1034573c.5014G>Tp.E1672*Substitution - NonsenseEndometrium
COSM4171997c.?p.R2263*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1308208c.4578G>Cp.E1526DSubstitution - MissenseUrinary_tract
COSM4958210c.2109G>Ap.M703ISubstitution - MissenseLiver
COSM135925c.4355C>Ap.P1452HSubstitution - MissenseSkin
COSM4385262c.4714G>Ap.G1572RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1284744c.2743C>Tp.R915CSubstitution - MissenseOesophagus
COSM3424202c.97T>Gp.F33VSubstitution - MissenseLarge_intestine
COSM150918c.5030_5036delTGGAGACp.V1677fs*30Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1682288c.4319C>Tp.P1440LSubstitution - MissenseLarge_intestine
COSM96434c.?p.E1014*Substitution - NonsenseLarge_intestine
COSM3153135c.3241C>Tp.P1081SSubstitution - MissenseOesophagus
COSM3153115c.2182C>Tp.R728WSubstitution - MissenseStomach
COSM4599296c.1192C>Tp.Q398*Substitution - NonsenseUpper_aerodigestive_tract
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseCervix
COSM1238789c.5587C>Tp.P1863SSubstitution - MissenseOesophagus
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseUrinary_tract
COSM4991530c.3619G>Tp.E1207*Substitution - NonsenseSkin
COSM4984100c.512C>Tp.A171VSubstitution - MissenseLarge_intestine
COSM5707676c.2061_2077del17p.L688fs*105Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM4300068c.1681C>Tp.Q561*Substitution - NonsenseUpper_aerodigestive_tract
COSM4957844c.6223C>Ap.H2075NSubstitution - MissenseLiver
COSM4603609c.4894_4895insGGACCAp.L1631_T1632insRTInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM6005632c.5332G>Tp.G1778WSubstitution - MissenseProstate
COSM4385238c.899C>Tp.P300LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4824049c.2221C>Tp.Q741*Substitution - NonsenseCervix
COSM4582439c.1139C>Tp.T380ISubstitution - MissenseBone
COSM88785c.5711A>Cp.Q1904PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1651571c.6970_6971insCp.H2324fs*55Insertion - FrameshiftLarge_intestine
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM127888c.924G>Ap.P308PSubstitution - coding silentUpper_aerodigestive_tract
COSM1682289c.4751T>Gp.L1584RSubstitution - MissenseLarge_intestine
COSM96422c.2480T>Cp.L827PSubstitution - MissenseBreast
COSM3964352c.4256T>Cp.I1419TSubstitution - MissenseLung
COSM1205369c.4397G>Tp.W1466LSubstitution - MissenseLarge_intestine
COSM96421c.1738C>Tp.R580*Substitution - NonsenseOesophagus
COSM727024c.6375C>Ap.H2125QSubstitution - MissenseLung
COSM3153235c.6963_6964insCp.H2324fs*55Insertion - FrameshiftLarge_intestine
COSM6005517c.6390G>Ap.M2130ISubstitution - MissenseProstate
COSM1682287c.4066C>Tp.R1356*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5520012c.3591-7C>Tp.?UnknownBiliary_tract
COSM96442c.4401_4402insAp.M1470fs*3Insertion - FrameshiftLarge_intestine
COSM4612692c.4564_4565insTGGAAGp.Q1522>LEEComplex - insertion inframeLarge_intestine
COSM5707671c.1022A>Cp.Q341PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5009621c.2989A>Gp.I997VSubstitution - MissenseLarge_intestine
COSM3554885c.2393G>Ap.S798NSubstitution - MissenseSkin
COSM4991527c.1535G>Ap.S512NSubstitution - MissenseSkin
COSM96433c.5095delAp.N1700fs*9Deletion - FrameshiftBreast
COSM3153153c.3927T>Cp.F1309FSubstitution - coding silentLarge_intestine
COSM5471518c.5185G>Ap.D1729NSubstitution - MissenseLarge_intestine
COSM1684652c.5099delAp.N1700fs*9Deletion - FrameshiftLarge_intestine
COSM1034566c.4467_4468insGp.A1490fs*3Insertion - FrameshiftEndometrium
COSM3694077c.1511G>Tp.R504LSubstitution - MissenseLarge_intestine
COSM4385251c.3256A>Gp.I1086VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM317283c.3857A>Gp.N1286SSubstitution - MissenseLung
COSM1714421c.3233C>Tp.P1078LSubstitution - MissenseSkin
COSM4444866c.4235C>Tp.A1412VSubstitution - MissenseLarge_intestine
COSM4104428c.982C>Tp.H328YSubstitution - MissenseStomach
COSM1034579c.6892C>Tp.Q2298*Substitution - NonsenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM4004938c.6762T>Gp.G2254GSubstitution - coding silentUrinary_tract
COSM94191c.1936G>Cp.E646QSubstitution - MissenseBreast
COSM88784c.4879C>Tp.R1627WSubstitution - MissenseUrinary_tract
COSM6008650c.5548C>Tp.P1850SSubstitution - MissenseProstate
COSM3554882c.1499C>Tp.P500LSubstitution - MissenseSkin
COSM4681089c.1785G>Ap.P595PSubstitution - coding silentLarge_intestine
COSM224101c.1927G>Ap.E643KSubstitution - MissenseSkin
COSM88786c.6523A>Cp.M2175LSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4856715c.4934G>Ap.R1645QSubstitution - MissenseSkin
COSM1416491c.5331C>Tp.G1777GSubstitution - coding silentLarge_intestine
COSM727023c.6489C>Tp.P2163PSubstitution - coding silentSkin
COSM254672c.4352A>Tp.H1451LSubstitution - MissenseUrinary_tract
COSM1205371c.1811G>Ap.R604QSubstitution - MissenseSkin
COSM5945452c.673C>Tp.Q225*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM363359c.4880G>Ap.R1627QSubstitution - MissenseLung
COSM4104427c.620A>Gp.Y207CSubstitution - MissenseStomach
COSM4104438c.5459A>Gp.H1820RSubstitution - MissenseStomach
COSM269098c.2512C>Tp.R838CSubstitution - MissenseLarge_intestine
COSM4833737c.3807-1G>Cp.?UnknownOesophagus
COSM4681092c.3798G>Ap.W1266*Substitution - NonsenseLarge_intestine
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseLung
COSM254668c.2470C>Tp.Q824*Substitution - NonsenseUrinary_tract
COSM320130c.4114T>Cp.C1372RSubstitution - MissenseOesophagus
COSM1308207c.4365G>Cp.Q1455HSubstitution - MissenseUrinary_tract
COSM727028c.4241A>Gp.Y1414CSubstitution - MissenseOesophagus
COSM4849197c.5155C>Tp.Q1719*Substitution - NonsenseCervix
COSM96419c.4195G>Tp.D1399YSubstitution - MissenseStomach
COSM6008923c.4306T>Cp.W1436RSubstitution - MissenseLarge_intestine
COSM4385267c.7061C>Tp.A2354VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034511c.181delAp.I61fs*55Deletion - FrameshiftEndometrium
COSM5789312c.4228A>Tp.R1410WSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1034548c.3810C>Tp.F1270FSubstitution - coding silentEndometrium
COSM122851c.4195G>Ap.D1399NSubstitution - MissenseUpper_aerodigestive_tract
COSM479001c.7079A>Gp.E2360GSubstitution - MissenseKidney
COSM1416465c.444G>Ap.T148TSubstitution - coding silentStomach
> Text Mining based Variations
 
PMID Variation Cancer Evidence
24529102MutationDiffuse Large B-Cell LymphomaThe high prevalence of p300 mutations in DLBCL suggests that HAT-deficient p300 activity defines a subtype of DLBCL, which we have investigated using human DLBCL cell lines RC-K8 and SUDHL2.
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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
Q0947289SPhosphoserineAMPKNoNone detected
Q09472418KN6-acetyllysine-NoNone detected
Q09472423KN6-acetyllysine-NoNone detected
Q09472499SPhosphoserine-NoNone detected
Q09472580ROmega-N-methylated arginineCARM1Yesp.R580Q (cancer: COAD, STAD, UCEC)
Q09472604ROmega-N-methylated arginineCARM1Yesp.R604G (cancer: COAD)
Q09472636KN6-acetyllysine-Yesp.K636E (cancer: OV)
Q09472977KN6-acetyllysine-NoNone detected
Q094721020KN6-acetyllysine-NoNone detected
Q094721024KN6-acetyllysine-NoNone detected
Q094721038SPhosphoserine-NoNone detected
Q094721180KN6-acetyllysine-NoNone detected
Q094721336KN6-acetyllysine-NoNone detected
Q094721473KN6-acetyllysine-NoNone detected
Q094721499KN6-acetyllysineautocatalysisNoNone detected
Q094721542KN6-acetyllysine-NoNone detected
Q094721546KN6-acetyllysine-NoNone detected
Q094721549KN6-acetyllysineautocatalysisNoNone detected
Q094721554KN6-acetyllysineautocatalysisNoNone detected
Q094721555KN6-acetyllysine-NoNone detected
Q094721558KN6-acetyllysine-NoNone detected
Q094721560KN6-acetyllysineautocatalysisNoNone detected
Q094721583KN6-acetyllysine-NoNone detected
Q094721699KN6-acetyllysine-NoNone detected
Q094721704KN6-acetyllysine-NoNone detected
Q094721707KN6-acetyllysine-NoNone detected
Q094721726SPhosphoserine-NoNone detected
Q094722142RAsymmetric dimethylarginineCARM1NoNone detected
Q094722142RCitrullinePADI4NoNone detected
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 carcinoma194086.8066.442-0.2660.184NS
BRCABreast invasive carcinoma11211007.2837.026-0.2290.00104NS
CESCCervical and endocervical cancers33066.6476.448NANANA
COADColon adenocarcinoma414597.0286.497-0.4748.72e-07NS
ESCAEsophageal carcinoma111857.77.6330.0320.878NS
GBMGlioblastoma multiforme51666.5725.992NANANA
HNSCHead and Neck squamous cell carcinoma445226.6866.757-0.0190.908NS
KIRCKidney renal clear cell carcinoma725347.066.897-0.1490.0242NS
KIRPKidney renal papillary cell carcinoma322916.9936.381-0.5641.78e-05NS
LAMLAcute Myeloid Leukemia0173NA8.521NANANA
LGGBrain Lower Grade Glioma0530NA6.851NANANA
LIHCLiver hepatocellular carcinoma503735.5685.417-0.1940.108NS
LUADLung adenocarcinoma595177.0046.74-0.2180.00698NS
LUSCLung squamous cell carcinoma515017.027.0210.0150.879NS
OVOvarian serous cystadenocarcinoma0307NA6.977NANANA
PAADPancreatic adenocarcinoma41796.5176.47NANANA
PCPGPheochromocytoma and Paraganglioma31846.3225.929NANANA
PRADProstate adenocarcinoma524986.9526.822-0.1560.173NS
READRectum adenocarcinoma101676.9316.603-0.2270.33NS
SARCSarcoma22635.7286.154NANANA
SKCMSkin Cutaneous Melanoma14726.276.905NANANA
STADStomach adenocarcinoma354157.4227.5170.1230.118NS
TGCTTesticular Germ Cell Tumors0156NA7.2NANANA
THCAThyroid carcinoma595097.3086.994-0.2610.00223NS
THYMThymoma21207.0226.259NANANA
UCECUterine Corpus Endometrial Carcinoma355466.7026.506-0.2510.0598NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 8.2
Autonomic ganglia CHP212 8.4
Autonomic ganglia IMR32 8.4
Autonomic ganglia KELLY 8.6
Autonomic ganglia KPNRTBM1 8.7
Autonomic ganglia KPNSI9S 7.5
Autonomic ganglia KPNYN 8.5
Autonomic ganglia MHHNB11 7.3
Autonomic ganglia NB1 8
Autonomic ganglia NH6 8.2
Autonomic ganglia SHSY5Y 7.7
Autonomic ganglia SIMA 8.3
Autonomic ganglia SKNAS 7.2
Autonomic ganglia SKNBE2 8.7
Autonomic ganglia SKNDZ 8.5
Autonomic ganglia SKNFI 8
Autonomic ganglia SKNSH 6.8
Biliary tract HUCCT1 7.7
Biliary tract HUH28 7.6
Biliary tract SNU1079 7.4
Biliary tract SNU1196 8.5
Biliary tract SNU245 7.9
Biliary tract SNU308 7.3
Biliary tract SNU478 7.8
Bone 143B 8
Bone A673 8.3
Bone CADOES1 8.4
Bone CAL78 7.3
Bone G292CLONEA141B1 8.3
Bone HOS 8.1
Bone HS706T 7.7
Bone HS737T 8
Bone HS819T 7.8
Bone HS821T 7.8
Bone HS822T 8
Bone HS863T 7.8
Bone HS870T 7.2
Bone HS888T 7.6
Bone MG63 7.8
Bone MHHES1 9
Bone OUMS27 8
Bone RDES 7.8
Bone SJSA1 7.8
Bone SKES1 8.4
Bone SKNMC 8.3
Bone SW1353 8.2
Bone T173 7.5
Bone TC71 8
Bone U2OS 8.3
Breast AU565 8.2
Breast BT20 8.3
Breast BT474 8.4
Breast BT483 7.8
Breast BT549 7.6
Breast CAL120 7.8
Breast CAL148 7.1
Breast CAL51 8.9
Breast CAL851 7.7
Breast CAMA1 7.6
Breast DU4475 7.8
Breast EFM192A 7.5
Breast EFM19 8
Breast EVSAT 7.9
Breast HCC1143 8.7
Breast HCC1187 8.1
Breast HCC1395 7.9
Breast HCC1419 8.8
Breast HCC1428 8.2
Breast HCC1500 7.5
Breast HCC1569 8.5
Breast HCC1599 7.8
Breast HCC1806 7.9
Breast HCC1937 7.9
Breast HCC1954 7.5
Breast HCC202 8.1
Breast HCC2157 7.8
Breast HCC2218 8.2
Breast HCC38 7.9
Breast HCC70 8.7
Breast HDQP1 7.8
Breast HMC18 7.9
Breast HS274T 7.9
Breast HS281T 7.7
Breast HS343T 7.4
Breast HS578T 7.7
Breast HS606T 7.6
Breast HS739T 7.3
Breast HS742T 7.3
Breast JIMT1 7.5
Breast KPL1 8.2
Breast MCF7 8
Breast MDAMB134VI 7.2
Breast MDAMB157 8
Breast MDAMB175VII 8.4
Breast MDAMB231 7.2
Breast MDAMB361 7.7
Breast MDAMB415 8.7
Breast MDAMB436 7.6
Breast MDAMB453 8.8
Breast MDAMB468 8.5
Breast SKBR3 8.5
Breast T47D 7.4
Breast UACC812 7.3
Breast UACC893 8
Breast YMB1 7.6
Breast ZR751 7.6
Breast ZR7530 8.6
Central nervous system 1321N1 7.4
Central nervous system 42MGBA 8
Central nervous system 8MGBA 7.8
Central nervous system A172 7.2
Central nervous system AM38 7.3
Central nervous system BECKER 8.2
Central nervous system CAS1 8.2
Central nervous system CCFSTTG1 8.1
Central nervous system D283MED 8.3
Central nervous system D341MED 9
Central nervous system DAOY 8.5
Central nervous system DBTRG05MG 7.5
Central nervous system DKMG 8.3
Central nervous system GAMG 7.4
Central nervous system GB1 8.4
Central nervous system GI1 7.8
Central nervous system GMS10 7.3
Central nervous system GOS3 7
Central nervous system H4 7.7
Central nervous system HS683 8.1
Central nervous system KALS1 6.8
Central nervous system KG1C 6.8
Central nervous system KNS42 7.4
Central nervous system KNS60 7
Central nervous system KNS81 6.1
Central nervous system KS1 7.2
Central nervous system LN18 7.4
Central nervous system LN229 7.5
Central nervous system M059K 7.3
Central nervous system MOGGCCM 7.8
Central nervous system MOGGUVW 7.9
Central nervous system NMCG1 7.9
Central nervous system ONS76 7.9
Central nervous system SF126 7.7
Central nervous system SF295 7.6
Central nervous system SNB19 7.6
Central nervous system SNU1105 7.5
Central nervous system SNU201 6.9
Central nervous system SNU466 7.8
Central nervous system SNU489 7.8
Central nervous system SNU626 7.6
Central nervous system SNU738 8.9
Central nervous system SW1088 8.1
Central nervous system SW1783 7.9
Central nervous system T98G 7.8
Central nervous system TM31 8.1
Central nervous system U118MG 8.3
Central nervous system U138MG 7.9
Central nervous system U251MG 7.5
Central nervous system U87MG 7.8
Central nervous system YH13 7.9
Central nervous system YKG1 7.9
Endometrium AN3CA 8.3
Endometrium COLO684 6.2
Endometrium EFE184 7.7
Endometrium EN 7.5
Endometrium ESS1 8.1
Endometrium HEC108 7.8
Endometrium HEC151 8.4
Endometrium HEC1A 8.1
Endometrium HEC1B 8.2
Endometrium HEC251 6.8
Endometrium HEC265 7.2
Endometrium HEC50B 7.9
Endometrium HEC59 8.8
Endometrium HEC6 7.3
Endometrium ISHIKAWAHERAKLIO02ER 8.3
Endometrium JHUEM1 7.9
Endometrium JHUEM2 8.3
Endometrium JHUEM3 8.1
Endometrium KLE 7.4
Endometrium MFE280 7.8
Endometrium MFE296 8.3
Endometrium MFE319 6.8
Endometrium RL952 8.1
Endometrium SNGM 7.6
Endometrium SNU1077 7.5
Endometrium SNU685 7.7
Endometrium TEN 8.4
Haematopoietic and lymphoid 697 8.2
Haematopoietic and lymphoid A3KAW 8.2
Haematopoietic and lymphoid A4FUK 9.3
Haematopoietic and lymphoid ALLSIL 8.4
Haematopoietic and lymphoid AML193 8.5
Haematopoietic and lymphoid AMO1 8.3
Haematopoietic and lymphoid BCP1 8.2
Haematopoietic and lymphoid BDCM 8
Haematopoietic and lymphoid BL41 9.2
Haematopoietic and lymphoid BL70 9.2
Haematopoietic and lymphoid BV173 7.7
Haematopoietic and lymphoid CA46 8.2
Haematopoietic and lymphoid CI1 8.1
Haematopoietic and lymphoid CMK115 8.7
Haematopoietic and lymphoid CMK86 8.3
Haematopoietic and lymphoid CMK 8.2
Haematopoietic and lymphoid CMLT1 7.9
Haematopoietic and lymphoid COLO775 8.2
Haematopoietic and lymphoid DAUDI 8.6
Haematopoietic and lymphoid DB 8.4
Haematopoietic and lymphoid DEL 8
Haematopoietic and lymphoid DND41 8.3
Haematopoietic and lymphoid DOHH2 8.7
Haematopoietic and lymphoid EB1 8.3
Haematopoietic and lymphoid EB2 8.3
Haematopoietic and lymphoid EHEB 8
Haematopoietic and lymphoid EJM 8.9
Haematopoietic and lymphoid EM2 8.3
Haematopoietic and lymphoid EOL1 8.2
Haematopoietic and lymphoid F36P 8.5
Haematopoietic and lymphoid GA10 8.6
Haematopoietic and lymphoid GDM1 8.2
Haematopoietic and lymphoid GRANTA519 8
Haematopoietic and lymphoid HDLM2 7.9
Haematopoietic and lymphoid HDMYZ 7.4
Haematopoietic and lymphoid HEL9217 7.5
Haematopoietic and lymphoid HEL 8
Haematopoietic and lymphoid HH 8
Haematopoietic and lymphoid HL60 8.7
Haematopoietic and lymphoid HPBALL 8.3
Haematopoietic and lymphoid HS604T 7.8
Haematopoietic and lymphoid HS611T 8.1
Haematopoietic and lymphoid HS616T 8.1
Haematopoietic and lymphoid HS751T 8.1
Haematopoietic and lymphoid HT 7.9
Haematopoietic and lymphoid HTK 7.9
Haematopoietic and lymphoid HUNS1 8.2
Haematopoietic and lymphoid HUT102 8.8
Haematopoietic and lymphoid HUT78 8.1
Haematopoietic and lymphoid JEKO1 8.9
Haematopoietic and lymphoid JK1 8.7
Haematopoietic and lymphoid JM1 8.8
Haematopoietic and lymphoid JURKAT 8
Haematopoietic and lymphoid JURLMK1 8
Haematopoietic and lymphoid JVM2 8.1
Haematopoietic and lymphoid JVM3 8.8
Haematopoietic and lymphoid K562 7.4
Haematopoietic and lymphoid KARPAS299 8.4
Haematopoietic and lymphoid KARPAS422 8.1
Haematopoietic and lymphoid KARPAS620 9.1
Haematopoietic and lymphoid KASUMI1 8.9
Haematopoietic and lymphoid KASUMI2 7.8
Haematopoietic and lymphoid KASUMI6 8.2
Haematopoietic and lymphoid KCL22 8
Haematopoietic and lymphoid KE37 8
Haematopoietic and lymphoid KE97 7.8
Haematopoietic and lymphoid KG1 8.6
Haematopoietic and lymphoid KHM1B 7.7
Haematopoietic and lymphoid KIJK 8.4
Haematopoietic and lymphoid KMH2 7.5
Haematopoietic and lymphoid KMM1 8.7
Haematopoietic and lymphoid KMS11 8.4
Haematopoietic and lymphoid KMS12BM 8.5
Haematopoietic and lymphoid KMS18 8.6
Haematopoietic and lymphoid KMS20 7.5
Haematopoietic and lymphoid KMS21BM 7.8
Haematopoietic and lymphoid KMS26 8.5
Haematopoietic and lymphoid KMS27 8.1
Haematopoietic and lymphoid KMS28BM 7.1
Haematopoietic and lymphoid KMS34 8.1
Haematopoietic and lymphoid KO52 8.2
Haematopoietic and lymphoid KOPN8 7.8
Haematopoietic and lymphoid KU812 7.8
Haematopoietic and lymphoid KYO1 7.7
Haematopoietic and lymphoid L1236 8.1
Haematopoietic and lymphoid L363 9.8
Haematopoietic and lymphoid L428 8.7
Haematopoietic and lymphoid L540 7.2
Haematopoietic and lymphoid LAMA84 8.2
Haematopoietic and lymphoid LOUCY 9
Haematopoietic and lymphoid LP1 8.3
Haematopoietic and lymphoid M07E 8.6
Haematopoietic and lymphoid MC116 8.5
Haematopoietic and lymphoid ME1 7.7
Haematopoietic and lymphoid MEC1 8.4
Haematopoietic and lymphoid MEC2 8.9
Haematopoietic and lymphoid MEG01 7.9
Haematopoietic and lymphoid MHHCALL2 9
Haematopoietic and lymphoid MHHCALL3 7.6
Haematopoietic and lymphoid MHHCALL4 8.4
Haematopoietic and lymphoid MINO 8.1
Haematopoietic and lymphoid MJ 8.2
Haematopoietic and lymphoid MM1S 8.5
Haematopoietic and lymphoid MOLM13 8.5
Haematopoietic and lymphoid MOLM16 8.6
Haematopoietic and lymphoid MOLM6 6.9
Haematopoietic and lymphoid MOLP2 8.4
Haematopoietic and lymphoid MOLP8 8.4
Haematopoietic and lymphoid MOLT13 8.3
Haematopoietic and lymphoid MOLT16 8.7
Haematopoietic and lymphoid MOLT4 7.4
Haematopoietic and lymphoid MONOMAC1 8.3
Haematopoietic and lymphoid MONOMAC6 7.4
Haematopoietic and lymphoid MOTN1 8.2
Haematopoietic and lymphoid MUTZ5 8.6
Haematopoietic and lymphoid MV411 9.1
Haematopoietic and lymphoid NALM19 8.1
Haematopoietic and lymphoid NALM1 8.3
Haematopoietic and lymphoid NALM6 8.3
Haematopoietic and lymphoid NAMALWA 9
Haematopoietic and lymphoid NB4 8.7
Haematopoietic and lymphoid NCIH929 8
Haematopoietic and lymphoid NCO2 8.2
Haematopoietic and lymphoid NOMO1 8.7
Haematopoietic and lymphoid NUDHL1 8.1
Haematopoietic and lymphoid NUDUL1 9
Haematopoietic and lymphoid OCIAML2 8.1
Haematopoietic and lymphoid OCIAML3 8.5
Haematopoietic and lymphoid OCIAML5 7.9
Haematopoietic and lymphoid OCILY10 8.4
Haematopoietic and lymphoid OCILY19 7.9
Haematopoietic and lymphoid OCILY3 8.8
Haematopoietic and lymphoid OCIM1 8.6
Haematopoietic and lymphoid OPM2 9.1
Haematopoietic and lymphoid P12ICHIKAWA 8.1
Haematopoietic and lymphoid P31FUJ 7.6
Haematopoietic and lymphoid P3HR1 8.6
Haematopoietic and lymphoid PCM6 8.4
Haematopoietic and lymphoid PEER 8.8
Haematopoietic and lymphoid PF382 8.1
Haematopoietic and lymphoid PFEIFFER 8.9
Haematopoietic and lymphoid PL21 7.8
Haematopoietic and lymphoid RAJI 8.2
Haematopoietic and lymphoid RCHACV 8.7
Haematopoietic and lymphoid REC1 8.2
Haematopoietic and lymphoid REH 9
Haematopoietic and lymphoid RI1 8.1
Haematopoietic and lymphoid RL 7.5
Haematopoietic and lymphoid RPMI8226 8.2
Haematopoietic and lymphoid RPMI8402 7.9
Haematopoietic and lymphoid RS411 8.3
Haematopoietic and lymphoid SEM 8.3
Haematopoietic and lymphoid SET2 8.6
Haematopoietic and lymphoid SIGM5 8.7
Haematopoietic and lymphoid SKM1 8.6
Haematopoietic and lymphoid SKMM2 8
Haematopoietic and lymphoid SR786 8
Haematopoietic and lymphoid ST486 8.8
Haematopoietic and lymphoid SUDHL10 7.6
Haematopoietic and lymphoid SUDHL1 8
Haematopoietic and lymphoid SUDHL4 8.3
Haematopoietic and lymphoid SUDHL5 9.3
Haematopoietic and lymphoid SUDHL6 8.9
Haematopoietic and lymphoid SUDHL8 8.7
Haematopoietic and lymphoid SUPB15 8.3
Haematopoietic and lymphoid SUPHD1 8.4
Haematopoietic and lymphoid SUPM2 8.2
Haematopoietic and lymphoid SUPT11 8.7
Haematopoietic and lymphoid SUPT1 7.9
Haematopoietic and lymphoid TALL1 9
Haematopoietic and lymphoid TF1 7.4
Haematopoietic and lymphoid THP1 7.8
Haematopoietic and lymphoid TO175T 8
Haematopoietic and lymphoid TOLEDO 8.6
Haematopoietic and lymphoid U266B1 8.3
Haematopoietic and lymphoid U937 7.6
Haematopoietic and lymphoid UT7 8.5
Haematopoietic and lymphoid WSUDLCL2 8.8
Kidney 769P 7.9
Kidney 786O 7.1
Kidney A498 7
Kidney A704 7
Kidney ACHN 7.5
Kidney BFTC909 7.2
Kidney CAKI1 7.2
Kidney CAKI2 7.9
Kidney CAL54 7.2
Kidney KMRC1 7.5
Kidney KMRC20 8.1
Kidney KMRC2 7.3
Kidney KMRC3 8.4
Kidney OSRC2 8.2
Kidney RCC10RGB 7.8
Kidney SNU1272 7.9
Kidney SNU349 7.5
Kidney TUHR10TKB 7.3
Kidney TUHR14TKB 7.8
Kidney TUHR4TKB 7.2
Kidney VMRCRCW 7.9
Kidney VMRCRCZ 7.9
Large intestine C2BBE1 8.3
Large intestine CCK81 8.3
Large intestine CL11 7.7
Large intestine CL14 7.3
Large intestine CL34 8.3
Large intestine CL40 7.1
Large intestine COLO205 8.1
Large intestine COLO320 8.3
Large intestine COLO678 6.9
Large intestine CW2 8.4
Large intestine DLD1 7.6
Large intestine GP2D 7.6
Large intestine HCC56 8
Large intestine HCT116 6.9
Large intestine HCT15 6.5
Large intestine HS675T 7.8
Large intestine HS698T 7.8
Large intestine HT115 8.1
Large intestine HT29 7.9
Large intestine HT55 7.8
Large intestine KM12 7.7
Large intestine LOVO 8.1
Large intestine LS1034 7.8
Large intestine LS123 8.2
Large intestine LS180 7.8
Large intestine LS411N 8.5
Large intestine LS513 8.7
Large intestine MDST8 8.1
Large intestine NCIH508 8.1
Large intestine NCIH716 7.9
Large intestine NCIH747 7.6
Large intestine OUMS23 8.2
Large intestine RCM1 8.3
Large intestine RKO 6.7
Large intestine SKCO1 7.4
Large intestine SNU1040 7.8
Large intestine SNU1197 7.6
Large intestine SNU175 8.7
Large intestine SNU283 7.9
Large intestine SNU407 8.2
Large intestine SNU503 8.2
Large intestine SNU61 8.2
Large intestine SNU81 8.3
Large intestine SNUC1 8.2
Large intestine SNUC2A 8.5
Large intestine SNUC4 7.7
Large intestine SNUC5 8.1
Large intestine SW1116 7.6
Large intestine SW1417 8.2
Large intestine SW1463 7.4
Large intestine SW403 7.1
Large intestine SW480 7.1
Large intestine SW48 7.6
Large intestine SW620 8.3
Large intestine SW837 8.3
Large intestine SW948 8.1
Large intestine T84 8.4
Liver ALEXANDERCELLS 8.1
Liver C3A 7.7
Liver HEP3B217 8.7
Liver HEPG2 7.5
Liver HLE 7.3
Liver HLF 7.4
Liver HUH1 7.3
Liver HUH6 8.5
Liver HUH7 7.8
Liver JHH1 8.1
Liver JHH2 8.6
Liver JHH4 8.5
Liver JHH5 8.1
Liver JHH6 8.4
Liver JHH7 8.5
Liver LI7 7.9
Liver PLCPRF5 8.1
Liver SKHEP1 8.4
Liver SNU182 7.5
Liver SNU387 7.8
Liver SNU398 9.1
Liver SNU423 7.8
Liver SNU449 7.8
Liver SNU475 7.7
Liver SNU761 7.9
Liver SNU878 8.8
Liver SNU886 8.6
Lung A549 7.3
Lung ABC1 8.4
Lung BEN 7.8
Lung CAL12T 7.4
Lung CALU1 7.7
Lung CALU3 7.9
Lung CALU6 7.5
Lung CHAGOK1 8.9
Lung COLO668 8.9
Lung COLO699 8.3
Lung CORL105 7.4
Lung CORL23 7.4
Lung CORL24 8.6
Lung CORL279 8.3
Lung CORL311 8.1
Lung CORL47 8.6
Lung CORL51 7.9
Lung CORL88 7.8
Lung CORL95 8
Lung CPCN 8
Lung DMS114 8.3
Lung DMS153 9
Lung DMS273 7.6
Lung DMS454 7.7
Lung DMS53 7.5
Lung DMS79 7.8
Lung DV90 8.4
Lung EBC1 7.6
Lung EPLC272H 8.3
Lung HARA 7.6
Lung HCC1171 8.3
Lung HCC1195 8
Lung HCC15 5.9
Lung HCC2279 7.8
Lung HCC2935 9.8
Lung HCC33 8.1
Lung HCC366 7.9
Lung HCC4006 8.2
Lung HCC44 7.5
Lung HCC78 7.8
Lung HCC827 7.1
Lung HCC95 7.9
Lung HLC1 8
Lung HLFA 7.8
Lung HS229T 7.7
Lung HS618T 7.6
Lung IALM 7.4
Lung KNS62 6.9
Lung LC1F 8.4
Lung LC1SQSF 8.6
Lung LCLC103H 6.4
Lung LCLC97TM1 8.1
Lung LK2 7.5
Lung LOUNH91 5.5
Lung LU65 7.8
Lung LU99 5.9
Lung LUDLU1 8.1
Lung LXF289 7.7
Lung MORCPR 8
Lung NCIH1048 9.1
Lung NCIH1092 8.9
Lung NCIH1105 9
Lung NCIH1155 8.3
Lung NCIH1184 8.3
Lung NCIH1299 7
Lung NCIH1339 7.5
Lung NCIH1341 7.9
Lung NCIH1355 8.1
Lung NCIH1373 8.1
Lung NCIH1385 8
Lung NCIH1395 6.9
Lung NCIH1435 8.1
Lung NCIH1436 8.5
Lung NCIH1437 8.2
Lung NCIH146 7.6
Lung NCIH1563 8.5
Lung NCIH1568 7.8
Lung NCIH1573 8
Lung NCIH1581 8.3
Lung NCIH1618 9.2
Lung NCIH1623 8.8
Lung NCIH1648 8.6
Lung NCIH1650 8.1
Lung NCIH1651 8
Lung NCIH1666 8
Lung NCIH1693 7.1
Lung NCIH1694 8.9
Lung NCIH1703 8.8
Lung NCIH1734 7.8
Lung NCIH1755 8.4
Lung NCIH1781 8.6
Lung NCIH1792 7.2
Lung NCIH1793 7.9
Lung NCIH1836 8.5
Lung NCIH1838 7.8
Lung NCIH1869 8.6
Lung NCIH1876 8.4
Lung NCIH1915 8.1
Lung NCIH1930 8.5
Lung NCIH1944 7.6
Lung NCIH1963 8.8
Lung NCIH196 7.9
Lung NCIH1975 8.1
Lung NCIH2009 8.2
Lung NCIH2023 8
Lung NCIH2029 8.1
Lung NCIH2030 7.6
Lung NCIH2066 8.6
Lung NCIH2081 7.5
Lung NCIH2085 7.1
Lung NCIH2087 7.1
Lung NCIH209 8.1
Lung NCIH2106 8
Lung NCIH2110 8.6
Lung NCIH211 7
Lung NCIH2122 7.2
Lung NCIH2126 8
Lung NCIH2141 7.7
Lung NCIH2170 8.5
Lung NCIH2171 8
Lung NCIH2172 8.2
Lung NCIH2196 8.4
Lung NCIH2227 8.9
Lung NCIH2228 6.9
Lung NCIH226 7.3
Lung NCIH2286 7.9
Lung NCIH2291 8.3
Lung NCIH2342 8.5
Lung NCIH2347 7.8
Lung NCIH23 8.2
Lung NCIH2405 7.4
Lung NCIH2444 7.4
Lung NCIH292 7.4
Lung NCIH322 8.3
Lung NCIH3255 9.1
Lung NCIH358 8.4
Lung NCIH441 7.4
Lung NCIH446 7.9
Lung NCIH460 7.7
Lung NCIH510 7.8
Lung NCIH520 7.7
Lung NCIH522 7.9
Lung NCIH524 8.2
Lung NCIH526 7.7
Lung NCIH596 7.7
Lung NCIH647 7.3
Lung NCIH650 8.2
Lung NCIH661 8.2
Lung NCIH69 8.8
Lung NCIH727 7.9
Lung NCIH810 8.2
Lung NCIH82 8.5
Lung NCIH838 7.8
Lung NCIH841 8.2
Lung NCIH854 8.7
Lung NCIH889 7.3
Lung PC14 8.5
Lung RERFLCAD1 7.1
Lung RERFLCAD2 7.5
Lung RERFLCAI 5.8
Lung RERFLCKJ 8.1
Lung RERFLCMS 7.9
Lung RERFLCSQ1 7.6
Lung SBC5 7.8
Lung SCLC21H 6.5
Lung SHP77 7.9
Lung SKLU1 7.1
Lung SKMES1 7
Lung SQ1 7.5
Lung SW1271 8
Lung SW1573 7.5
Lung SW900 7.4
Lung VMRCLCD 8.1
Lung VMRCLCP 8.7
Oesophagus COLO680N 7.4
Oesophagus ECGI10 7.9
Oesophagus KYSE140 8.6
Oesophagus KYSE150 7.6
Oesophagus KYSE180 7.2
Oesophagus KYSE270 6.9
Oesophagus KYSE30 8.1
Oesophagus KYSE410 8.3
Oesophagus KYSE450 7.8
Oesophagus KYSE510 8.2
Oesophagus KYSE520 7.4
Oesophagus KYSE70 8.1
Oesophagus OE19 9.3
Oesophagus OE33 8
Oesophagus TE10 9.4
Oesophagus TE11 7.8
Oesophagus TE14 7.9
Oesophagus TE15 8.2
Oesophagus TE1 7.9
Oesophagus TE4 8.9
Oesophagus TE5 7
Oesophagus TE6 8.1
Oesophagus TE8 8.5
Oesophagus TE9 8.2
Oesophagus TT 8.7
Ovary 59M 7.4
Ovary A2780 8.9
Ovary CAOV3 3.8
Ovary CAOV4 7.3
Ovary COLO704 6.7
Ovary COV318 8.1
Ovary COV362 7.4
Ovary COV434 9.1
Ovary COV504 7.5
Ovary COV644 8
Ovary EFO21 8
Ovary EFO27 7.3
Ovary ES2 7.1
Ovary FUOV1 7.6
Ovary HEYA8 6.5
Ovary HS571T 7.4
Ovary IGROV1 8
Ovary JHOC5 8.4
Ovary JHOM1 7.7
Ovary JHOM2B 8.2
Ovary JHOS2 7.4
Ovary JHOS4 7.6
Ovary KURAMOCHI 8.3
Ovary MCAS 6.9
Ovary NIHOVCAR3 7.8
Ovary OAW28 9.1
Ovary OAW42 8.4
Ovary OC314 8.3
Ovary OC316 8.1
Ovary ONCODG1 7
Ovary OV56 7.7
Ovary OV7 8.3
Ovary OV90 7.5
Ovary OVCAR4 8
Ovary OVCAR8 8.4
Ovary OVISE 7.4
Ovary OVK18 8.4
Ovary OVKATE 7.3
Ovary OVMANA 7.5
Ovary OVSAHO 6.6
Ovary OVTOKO 6.8
Ovary RMGI 7.7
Ovary RMUGS 7.9
Ovary SKOV3 8.4
Ovary SNU119 7.5
Ovary SNU840 7.6
Ovary SNU8 7.4
Ovary TOV112D 8.3
Ovary TOV21G 7.7
Ovary TYKNU 7.2
Pancreas ASPC1 7.7
Pancreas BXPC3 7.1
Pancreas CAPAN1 8.1
Pancreas CAPAN2 6.9
Pancreas CFPAC1 7.8
Pancreas DANG 7.8
Pancreas HPAC 9.1
Pancreas HPAFII 7.7
Pancreas HS766T 7.8
Pancreas HUPT3 5.8
Pancreas HUPT4 8.4
Pancreas KCIMOH1 8.1
Pancreas KLM1 8.3
Pancreas KP2 8.1
Pancreas KP3 7.4
Pancreas KP4 7.9
Pancreas L33 8.7
Pancreas MIAPACA2 8.6
Pancreas PANC0203 7.8
Pancreas PANC0213 8.6
Pancreas PANC0327 7.5
Pancreas PANC0403 7.6
Pancreas PANC0504 8.4
Pancreas PANC0813 8.4
Pancreas PANC1005 6.1
Pancreas PANC1 8
Pancreas PATU8902 7.6
Pancreas PATU8988S 7.7
Pancreas PATU8988T 6.6
Pancreas PK1 8.4
Pancreas PK45H 8.4
Pancreas PK59 7.2
Pancreas PL45 6.2
Pancreas PSN1 7.8
Pancreas QGP1 7.1
Pancreas SNU213 8.4
Pancreas SNU324 8.6
Pancreas SNU410 6.8
Pancreas SU8686 7.7
Pancreas SUIT2 7.9
Pancreas SW1990 7.7
Pancreas T3M4 8.7
Pancreas TCCPAN2 7.4
Pancreas YAPC 7.7
Pleura ACCMESO1 6.7
Pleura DM3 7.1
Pleura ISTMES1 7.3
Pleura ISTMES2 8.1
Pleura JL1 6.4
Pleura MPP89 7.4
Pleura MSTO211H 6.8
Pleura NCIH2052 7.4
Pleura NCIH2452 7.9
Pleura NCIH28 8.2
Prostate 22RV1 7.9
Prostate DU145 7.2
Prostate LNCAPCLONEFGC 7.9
Prostate MDAPCA2B 8
Prostate NCIH660 8.4
Prostate PC3 6.9
Prostate VCAP 8.8
Salivary gland A253 8.8
Salivary gland YD15 7.2
Skin A101D 8.1
Skin A2058 8
Skin A375 7.9
Skin C32 8.6
Skin CHL1 8.1
Skin CJM 8.6
Skin COLO679 8.3
Skin COLO741 8
Skin COLO783 7.6
Skin COLO792 9.1
Skin COLO800 7.9
Skin COLO818 9
Skin COLO829 8.3
Skin COLO849 8.8
Skin G361 7.9
Skin GRM 8.2
Skin HMCB 8
Skin HS294T 7.7
Skin HS600T 8
Skin HS688AT 7.8
Skin HS695T 8
Skin HS839T 8
Skin HS852T 8
Skin HS895T 6.6
Skin HS934T 7.8
Skin HS936T 8.1
Skin HS939T 8.6
Skin HS940T 7.6
Skin HS944T 7.9
Skin HT144 8.7
Skin IGR1 8.1
Skin IGR37 8
Skin IGR39 8
Skin IPC298 7.6
Skin K029AX 7.5
Skin LOXIMVI 7.5
Skin MALME3M 7.1
Skin MDAMB435S 7.9
Skin MELHO 8.7
Skin MELJUSO 7.7
Skin MEWO 8.2
Skin RPMI7951 7.8
Skin RVH421 8.2
Skin SH4 8.1
Skin SKMEL1 7.9
Skin SKMEL24 7.3
Skin SKMEL28 8.4
Skin SKMEL2 8.8
Skin SKMEL30 8.1
Skin SKMEL31 8.3
Skin SKMEL3 7.1
Skin SKMEL5 8.4
Skin UACC257 7.9
Skin UACC62 7.8
Skin WM115 8
Skin WM1799 8.5
Skin WM2664 8.4
Skin WM793 8.2
Skin WM88 8.2
Skin WM983B 8.8
Small intestine HUTU80 9.1
Soft tissue A204 8.7
Soft tissue G401 8.6
Soft tissue G402 8.3
Soft tissue GCT 7.4
Soft tissue HS729 8.1
Soft tissue HT1080 7.3
Soft tissue KYM1 9.1
Soft tissue MESSA 8.4
Soft tissue RD 8.2
Soft tissue RH30 7.7
Soft tissue RH41 7.9
Soft tissue RKN 7.4
Soft tissue S117 7.5
Soft tissue SJRH30 7.5
Soft tissue SKLMS1 8
Soft tissue SKUT1 8.4
Soft tissue TE125T 7.2
Soft tissue TE159T 8.2
Soft tissue TE441T 9.6
Soft tissue TE617T 8.9
Stomach 2313287 8
Stomach AGS 6.8
Stomach AZ521 8.7
Stomach ECC10 8.2
Stomach ECC12 9.1
Stomach FU97 8
Stomach GCIY 7.5
Stomach GSS 8.5
Stomach GSU 8.3
Stomach HGC27 8.5
Stomach HS746T 7.2
Stomach HUG1N 7.9
Stomach IM95 8.1
Stomach KATOIII 7.8
Stomach KE39 8.4
Stomach LMSU 7.8
Stomach MKN1 7.9
Stomach MKN45 7.9
Stomach MKN74 6.2
Stomach MKN7 6.4
Stomach NCCSTCK140 9.1
Stomach NCIN87 8.5
Stomach NUGC2 8.2
Stomach NUGC3 5.6
Stomach NUGC4 8.1
Stomach OCUM1 8.3
Stomach RERFGC1B 8.2
Stomach SH10TC 7.8
Stomach SNU16 8.4
Stomach SNU1 8.4
Stomach SNU216 8.1
Stomach SNU520 8.2
Stomach SNU5 7.5
Stomach SNU601 8.6
Stomach SNU620 8.2
Stomach SNU668 8.2
Stomach SNU719 8.5
Stomach TGBC11TKB 8.2
Thyroid 8305C 7.8
Thyroid 8505C 7.5
Thyroid BCPAP 7.1
Thyroid BHT101 7.5
Thyroid CAL62 7
Thyroid CGTHW1 7.9
Thyroid FTC133 7.6
Thyroid FTC238 8.5
Thyroid ML1 8.1
Thyroid SW579 8.4
Thyroid TT2609C02 8
Thyroid TT 8.2
Upper aerodigestive tract BHY 7.7
Upper aerodigestive tract BICR16 7.6
Upper aerodigestive tract BICR18 7.8
Upper aerodigestive tract BICR22 8.5
Upper aerodigestive tract BICR31 8.2
Upper aerodigestive tract BICR56 8.3
Upper aerodigestive tract BICR6 7.7
Upper aerodigestive tract CAL27 7.9
Upper aerodigestive tract CAL33 8.2
Upper aerodigestive tract DETROIT562 7.3
Upper aerodigestive tract FADU 8.6
Upper aerodigestive tract HS840T 7.7
Upper aerodigestive tract HSC2 7.7
Upper aerodigestive tract HSC3 6.8
Upper aerodigestive tract HSC4 8.1
Upper aerodigestive tract PECAPJ15 7.8
Upper aerodigestive tract PECAPJ34CLONEC12 8.1
Upper aerodigestive tract PECAPJ41CLONED2 7.7
Upper aerodigestive tract PECAPJ49 7.3
Upper aerodigestive tract SCC15 7.8
Upper aerodigestive tract SCC25 7.5
Upper aerodigestive tract SCC4 7.9
Upper aerodigestive tract SCC9 7.9
Upper aerodigestive tract SNU1076 7.7
Upper aerodigestive tract SNU1214 8.4
Upper aerodigestive tract SNU46 7.6
Upper aerodigestive tract SNU899 8.2
Upper aerodigestive tract YD10B 8.2
Upper aerodigestive tract YD38 7.7
Upper aerodigestive tract YD8 7.9
Urinary tract 5637 7.6
Urinary tract 639V 6.8
Urinary tract 647V 6
Urinary tract BC3C 8.3
Urinary tract BFTC905 8.2
Urinary tract CAL29 7.6
Urinary tract HS172T 7.2
Urinary tract HT1197 8.8
Urinary tract HT1376 8.1
Urinary tract J82 7.3
Urinary tract JMSU1 8.5
Urinary tract KMBC2 8.3
Urinary tract KU1919 8.2
Urinary tract RT11284 8.5
Urinary tract RT112 8.3
Urinary tract RT4 8.3
Urinary tract SCABER 7.8
Urinary tract SW1710 7.6
Urinary tract SW780 8.6
Urinary tract T24 8.3
Urinary tract TCCSUP 7.4
Urinary tract UMUC1 9.1
Urinary tract UMUC3 7.6
Urinary tract VMCUB1 7.9
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 14.5
Adrenal gland 16
Appendix 22.6
Bone marrow 38.3
Breast 14.1
Cerebral cortex 18
Cervix, uterine 23.7
Colon 13.5
Duodenum 13.2
Endometrium 26.9
Epididymis 15
Esophagus 13.4
Fallopian tube 24.8
Gallbladder 22.2
Heart muscle 7.1
Kidney 13.5
Liver 7.2
Lung 20.3
Lymph node 19.1
Ovary 26.9
Pancreas 3.5
Parathyroid gland 45.3
Placenta 25.8
Prostate 21.3
Rectum 15.1
Salivary gland 5.8
Seminal vesicle 20.6
Skeletal muscle 6.6
Skin 19.9
Small intestine 15
Smooth muscle 22.4
Spleen 22
Stomach 12.6
Testis 34.5
Thyroid gland 31.6
Tonsil 15.9
Urinary bladder 15.8
> Text Mining based Expression
 
PMID Expression Cancer Evidence
28551630OverexpressionRenal Cell CarcinomaLevels of EP300, TP53 and BAX transcripts were found increased in tumor tissues.
27019369aberrant expressionSkin Squamous Cell CarcinomaHigh nuclear expression of p300 (>60% of positive cells) (p=0.001) and absent cytoplasmic expression (p=0.026) were more frequent in SCC compared to AK and BD, respectively.
26476216OverexpressionBreast CarcinomaThe transcriptional coactivator p300 is highly expressed in breast cancer tissues.
25364581UnderexpressionMyeloid LeukemiaThe expression levels of BMPR2, EP300, and TNFAIP3 mRNA in cell lines from myeloid leukemia were significantly lower than those in the cells from the healthy control (P<0.05).
25240203OverexpressionBreast CarcinomaMoreover, the analysis of p300 expression in human BC samples showed that p300 immunoreactivity is significantly higher in the cancerous tissues than in the non-malignant mammary tissues and in the histologically normal adjacent tissues.
24975674OverexpressionSkin Squamous Cell CarcinomaHigh expression of p300 was observed in 86 of 165 (52·1%) of the cSCC samples and six of 30 (20%) of the adjacent normal skin tissue samples (P<0·001).
24530506UnderexpressionLung CarcinomaIn this study, we found that p300 was highly phosphorylated and its level was decreased during mitosis and tumorigenesis.
24480624OverexpressionProstate CarcinomaOverexpression of the histone acetyltransferase p300 is implicated in the proliferation and progression of prostate cancer, but evidence of a causal role is lacking.
24142575OverexpressionColorectal CarcinomaThe overexpression of p300 may be an independent favorable prognostic factor for disease-free survival in patients with colorectal cancer.
22647238OverexpressionNasopharyngeal CarcinomaHigh expression of p300 is linked to aggressive features and poor prognosis of nasopharyngeal carcinoma.
23467396OverexpressionBreast CarcinomaHigh expression of p300 could be observed in 105/193 (54.4%) of BCs, in 6/25 (24.0%) of non-malignant breast tissues, respectively (P=0.004).
21764211OverexpressionHepatocellular CarcinomaWe found p300 is highly expressed in 47% of surgically resected HCC specimens by immunohistochemistry, which correlated with advanced TNM staging (P = 0.034), vascular invasion (P = 0.036), intrahepatic metastasis (P = 0.001) and shortened overall survival (P = 0.028).
21524463OverexpressionEsophageal Squamous Cell CarcinomaThe expression frequency and expression levels of p300 were significantly higher in ESCC specimens (62.5%, 150 of 240) than in normal esophageal mucosa (8.9%, 5 of 56; p<0.001).
21205329OverexpressionHepatocellular CarcinomaUp-regulated expression of p300 mRNA and protein was observed in the majority of HCCs by RT-PCR and Western blotting, when compared with their adjacent non-malignant liver tissues.
20859991OverexpressionProstate CarcinomaSteroid receptor coactivators p300 and CBP are highly expressed in advanced prostate cancer.
18459105OverexpressionProstate Carcinomap300 expression in high grade tumors (Gleason score >or=7) was significantly higher compared to low grade tumors (Gleason score <7) [17.7% versus 13.7%, respectively, P = 0.03].
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 carcinoma4040.3971.11e-1646.843.69.7Loss
BRCABreast invasive carcinoma10750.3836.65e-3945.943.710.4Loss
CESCCervical and endocervical cancers2920.2876.34e-0728.859.911.3Neutral
COADColon adenocarcinoma4490.411.12e-1933.963.32.9Loss
ESCAEsophageal carcinoma1830.5374.43e-1537.243.219.7Loss
GBMGlioblastoma multiforme1470.4942e-1040.151.78.2Loss
HNSCHead and Neck squamous cell carcinoma5140.2432.4e-0814.663.422Neutral
KIRCKidney renal clear cell carcinoma5250.2156.49e-077.484.68Neutral
KIRPKidney renal papillary cell carcinoma2880.1850.0016520.876.42.8Neutral
LAMLAcute Myeloid Leukemia1660.2040.008441.293.45.4Neutral
LGGBrain Lower Grade Glioma5130.3541.36e-1613.581.55.1Neutral
LIHCLiver hepatocellular carcinoma3640.3431.84e-1120.66415.4Neutral
LUADLung adenocarcinoma5120.3311.52e-1443.84313.3Loss
LUSCLung squamous cell carcinoma4980.4936.85e-3220.333.346.4Gain
OVOvarian serous cystadenocarcinoma3000.481.13e-1883.3124.7Loss
PAADPancreatic adenocarcinoma1770.2966.35e-0524.367.28.5Neutral
PCPGPheochromocytoma and Paraganglioma1620.4222.28e-0840.757.41.9Loss
PRADProstate adenocarcinoma4910.0650.14710.488.41.2Neutral
READRectum adenocarcinoma1640.4442.59e-0939.655.54.9Loss
SARCSarcoma2550.3965.04e-1128.245.126.7Neutral
SKCMSkin Cutaneous Melanoma3670.6373.1e-438.450.141.4Gain
STADStomach adenocarcinoma4130.4841.17e-2533.457.49.2Loss
TGCTTesticular Germ Cell Tumors1500.4786.21e-1032.742.724.7Neutral
THCAThyroid carcinoma4970.4371.33e-2417.981.70.4Neutral
THYMThymoma1190.1540.094912.6843.4Neutral
UCECUterine Corpus Endometrial Carcinoma5370.4231.14e-2422.370.27.4Neutral
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 carcinoma0.0760.11917408-0.0190.0206NS/NA
BRCABreast invasive carcinoma-0.0240.4878378500.0774NS/NA
CESCCervical and endocervical cancers0.0170.763306NANANS/NA
COADColon adenocarcinoma-0.1040.064219297-0.0070.992NS/NA
ESCAEsophageal carcinoma-0.0370.6049185NANANS/NA
GBMGlioblastoma multiforme-0.1760.16164NANANS/NA
HNSCHead and Neck squamous cell carcinoma0.0970.0244205220.0020.534NS/NA
KIRCKidney renal clear cell carcinoma0.0530.33224319-0.0060.695NS/NA
KIRPKidney renal papillary cell carcinoma0.1040.07323275-0.0090.00328NS/NA
LAMLAcute Myeloid Leukemia-0.080.2990170NANANS/NA
LGGBrain Lower Grade Glioma0.0820.05990530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.0550.2654137300.401NS/NA
LUADLung adenocarcinoma0.10.029121456-0.0070.702NS/NA
LUSCLung squamous cell carcinoma0.0940.06888370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.20.61309NANANS/NA
PAADPancreatic adenocarcinoma-0.1060.1524179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.1060.1483184NANANS/NA
PRADProstate adenocarcinoma0.1946.42e-0635498-0.0083.37e-05NS/NA
READRectum adenocarcinoma-0.0360.72299NANANS/NA
SARCSarcoma-0.1020.09880263NANANS/NA
SKCMSkin Cutaneous Melanoma0.1570.0006191471NANANS/NA
STADStomach adenocarcinoma-0.0750.1510372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.0640.4260156NANANS/NA
THCAThyroid carcinoma0.0990.019650509-0.0010.0412NS/NA
THYMThymoma-0.0510.5792120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma0.0560.22934431-0.0060.0464NS/NA
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 3 High
Appendix 2 Medium
Bone marrow 3 High
Breast 2 Medium
Bronchus 2 Medium
Caudate 2 Medium
Cerebellum 2 Medium
Cerebral cortex 3 High
Cervix, uterine 2 Medium
Colon 3 High
Duodenum 2 Medium
Endometrium 2 Medium
Epididymis 2 Medium
Esophagus 3 High
Fallopian tube 2 Medium
Gallbladder 2 Medium
Heart muscle 1 Low
Hippocampus 2 Medium
Kidney 2 Medium
Liver 2 Medium
Lung 2 Medium
Lymph node 2 Medium
Nasopharynx 2 Medium
Oral mucosa 2 Medium
Ovary 2 Medium
Pancreas 2 Medium
Parathyroid gland 3 High
Placenta 3 High
Prostate 2 Medium
Rectum 3 High
Salivary gland 2 Medium
Seminal vesicle 2 Medium
Skeletal muscle 1 Low
Skin 3 High
Small intestine 2 Medium
Smooth muscle 2 Medium
Soft tissue 1 Low
Spleen 2 Medium
Stomach 2 Medium
Testis 2 Medium
Thyroid gland 2 Medium
Tonsil 2 Medium
Urinary bladder 2 Medium
Vagina 2 Medium
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 carcinoma1280.494NS24476821
BRCABreast invasive carcinoma5210.0166Significant23000897
COADColon adenocarcinoma1490.154NS22810696
GBMGlioblastoma multiforme1570.00322Significant26824661
HNSCHead and Neck squamous cell carcinoma2790.0136Significant25631445
KIRPKidney renal papillary cell carcinoma1610.641NS26536169
LGGBrain Lower Grade Glioma5131.59e-11Significant26824661
LUADLung adenocarcinoma2300.162NS25079552
LUSCLung squamous cell carcinoma1780.571NS22960745
OVOvarian serous cystadenocarcinoma2870.357NS21720365
PRADProstate adenocarcinoma3330.0567NS26544944
READRectum adenocarcinoma670.361NS22810696
SKCMSkin Cutaneous Melanoma3150.0416Significant26091043
STADStomach adenocarcinoma2770.0703NS25079317
THCAThyroid carcinoma3918.92e-05Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.655NS23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.9490.805NS
BRCABreast invasive carcinoma1079 1.1860.477NS
CESCCervical and endocervical cancers291 1.0750.838NS
COADColon adenocarcinoma439 1.3220.344NS
ESCAEsophageal carcinoma184 0.7810.457NS
GBMGlioblastoma multiforme158 0.7470.248NS
HNSCHead and Neck squamous cell carcinoma518 11NS
KIRCKidney renal clear cell carcinoma531 0.3612.19e-05Longer
KIRPKidney renal papillary cell carcinoma287 1.0670.891NS
LAMLAcute Myeloid Leukemia149 1.10.746NS
LGGBrain Lower Grade Glioma511 0.5120.00452Longer
LIHCLiver hepatocellular carcinoma365 1.0860.743NS
LUADLung adenocarcinoma502 1.0210.915NS
LUSCLung squamous cell carcinoma494 0.8160.298NS
OVOvarian serous cystadenocarcinoma303 1.1960.392NS
PAADPancreatic adenocarcinoma177 1.6170.113NS
PCPGPheochromocytoma and Paraganglioma179 00.564NS
PRADProstate adenocarcinoma497 0.6480.712NS
READRectum adenocarcinoma159 0.7450.56NS
SARCSarcoma259 1.2680.418NS
SKCMSkin Cutaneous Melanoma459 0.9850.936NS
STADStomach adenocarcinoma388 0.7770.258NS
TGCTTesticular Germ Cell Tumors134 1.150.921NS
THCAThyroid carcinoma500 2.3240.3NS
THYMThymoma119 0.4810.388NS
UCECUterine Corpus Endometrial Carcinoma543 0.8770.665NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.0560.256NS
BRCABreast invasive carcinoma1071 0.0030.909NS
CESCCervical and endocervical cancers167 -0.0020.975NS
COADColon adenocarcinoma445 -0.0680.15NS
ESCAEsophageal carcinoma162 -0.1880.0167Lower
HNSCHead and Neck squamous cell carcinoma448 -0.0080.866NS
KIRCKidney renal clear cell carcinoma531 -0.1851.85e-05Lower
KIRPKidney renal papillary cell carcinoma260 -0.0180.776NS
LIHCLiver hepatocellular carcinoma347 0.060.269NS
LUADLung adenocarcinoma507 0.0450.313NS
LUSCLung squamous cell carcinoma497 -0.0280.529NS
OVOvarian serous cystadenocarcinoma302 -0.0960.0948NS
PAADPancreatic adenocarcinoma176 0.0360.638NS
READRectum adenocarcinoma156 -0.0340.673NS
SKCMSkin Cutaneous Melanoma410 -0.0140.774NS
STADStomach adenocarcinoma392 0.0110.83NS
TGCTTesticular Germ Cell Tumors81 -0.2060.0645NS
THCAThyroid carcinoma499 -0.0860.056NS
UCECUterine Corpus Endometrial Carcinoma501 -0.0450.316NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 -0.0640.293NS
HNSCHead and Neck squamous cell carcinoma498 0.0010.978NS
KIRCKidney renal clear cell carcinoma525 -0.1852.05e-05Lower
LGGBrain Lower Grade Glioma514 -0.0330.458NS
LIHCLiver hepatocellular carcinoma366 -0.010.847NS
OVOvarian serous cystadenocarcinoma296 -0.0240.685NS
PAADPancreatic adenocarcinoma176 0.0150.842NS
STADStomach adenocarcinoma406 0.0050.921NS
UCECUterine Corpus Endometrial Carcinoma534 0.020.649NS
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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 EP300.
Summary
SymbolEP300
NameE1A binding protein p300
Aliases p300; KAT3B; histone acetyltransferase p300; RSTS2; E1A-associated protein p300; E1A-binding protein, 300kD; ......
Location22q13.2
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
26934656Prostate CarcinomadownstreamPASNPositive regulationHere, we demonstrated that P300 binds to and increases histone H3 lysine 27 acetylation (H3K27Ac) in the FASN gene promoter.
24893747MelanomapartnerBrafcorrelationOur results demonstrate that Braf expression is inversely correlated with nuclear p300 and positively correlated with cytoplasmic p300 expression.
21764211Hepatocellular CarcinomadownstreamE-cadherin; beta-catenin; cyclin D1Negative regulation; Positive regulation; Positive regulationIn vitro study, knocking down of p300 expression in hepatoma cells recovered E-cadherin expression, inhibited the translocation of beta (β)-catenin into the nuclei, decreased cyclin D1 activity and suppressed the migration/invasion of HCC cells.
20859991Prostate CarcinomadownstreamER-βPositive regulationp300 or CBP enhanced activation of ER-β by genistein.
18778367Acute Myeloid LeukemiapartnerMLLFusionA complex t(1;22;11)(q44;q13;q23) translocation causing MLL-p300 fusion gene in therapy-related acute myeloid leukemia.