CR2Cancer

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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

[ TOP ]

Domain

PF00439 Bromodomain
PF12157 Protein of unknown function (DUF3591)
PF09247 TATA box-binding protein binding

Function

Largest component and core scaffold of the TFIID basal transcription factor complex (PubMed:25412659, PubMed:27007846). Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA-binding activity (PubMed:25412659). Essential for progression of the G1 phase of the cell cycle (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone acetylation	H3, H4	H3ac, H4ac	11295558

> Gene Ontology [ TOP ]
Biological Process	GO:0006352 DNA-templated transcription, initiation GO:0006354 DNA-templated transcription, elongation GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006368 transcription elongation from RNA polymerase II promoter GO:0006473 protein acetylation GO:0006475 internal protein amino acid acetylation GO:0009894 regulation of catabolic process GO:0009896 positive regulation of catabolic process GO:0010498 proteasomal protein catabolic process GO:0016570 histone modification GO:0016573 histone acetylation GO:0018105 peptidyl-serine phosphorylation GO:0018107 peptidyl-threonine phosphorylation GO:0018205 peptidyl-lysine modification GO:0018209 peptidyl-serine modification GO:0018210 peptidyl-threonine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0031329 regulation of cellular catabolic process GO:0031331 positive regulation of cellular catabolic process GO:0031334 positive regulation of protein complex assembly GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0042176 regulation of protein catabolic process GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043254 regulation of protein complex assembly GO:0043543 protein acylation GO:0044089 positive regulation of cellular component biogenesis GO:0045732 positive regulation of protein catabolic process GO:0045862 positive regulation of proteolysis GO:0046777 protein autophosphorylation GO:0051123 RNA polymerase II transcriptional preinitiation complex assembly GO:0060260 regulation of transcription initiation from RNA polymerase II promoter GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter GO:0061136 regulation of proteasomal protein catabolic process GO:0065004 protein-DNA complex assembly GO:0070897 DNA-templated transcriptional preinitiation complex assembly GO:0071824 protein-DNA complex subunit organization GO:0072331 signal transduction by p53 class mediator GO:1901796 regulation of signal transduction by p53 class mediator GO:1901800 positive regulation of proteasomal protein catabolic process GO:1903050 regulation of proteolysis involved in cellular protein catabolic process GO:1903052 positive regulation of proteolysis involved in cellular protein catabolic process GO:1903362 regulation of cellular protein catabolic process GO:1903364 positive regulation of cellular protein catabolic process GO:2000142 regulation of DNA-templated transcription, initiation GO:2000144 positive regulation of DNA-templated transcription, initiation
Molecular Function	GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific GO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding GO:0001083 transcription factor activity, RNA polymerase II basal transcription factor binding GO:0001129 RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly GO:0001132 RNA polymerase II transcription factor activity, TBP-class protein binding GO:0002039 p53 binding GO:0003713 transcription coactivator activity GO:0004402 histone acetyltransferase activity GO:0004674 protein serine/threonine kinase activity 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:0017025 TBP-class protein binding GO:0034212 peptide N-acetyltransferase activity GO:0042393 histone binding GO:0061733 peptide-lysine-N-acetyltransferase activity GO:0070577 lysine-acetylated histone binding
Cellular Component	GO:0000428 DNA-directed RNA polymerase complex GO:0005667 transcription factor complex GO:0005669 transcription factor TFIID complex GO:0016591 DNA-directed RNA polymerase II, holoenzyme GO:0030880 RNA polymerase complex GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044665 MLL1/2 complex GO:0044798 nuclear transcription factor complex GO:0055029 nuclear DNA-directed RNA polymerase complex GO:0061695 transferase complex, transferring phosphorus-containing groups GO:0071339 MLL1 complex GO:0090575 RNA polymerase II transcription factor complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa03022 Basal transcription factors
Reactome	R-HSA-1643685: Disease R-HSA-74160: Gene Expression R-HSA-212436: Generic Transcription Pathway R-HSA-162906: HIV Infection R-HSA-162587: HIV Life Cycle R-HSA-167161: HIV Transcription Initiation R-HSA-5663205: Infectious disease R-HSA-162599: Late Phase of HIV Life Cycle R-HSA-167162: RNA Polymerase II HIV Promoter Escape R-HSA-674695: RNA Polymerase II Pre-transcription Events R-HSA-73776: RNA Polymerase II Promoter Escape R-HSA-73857: RNA Polymerase II Transcription R-HSA-75953: RNA Polymerase II Transcription Initiation R-HSA-76042: RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-73779: RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-5633007: Regulation of TP53 Activity R-HSA-6804756: Regulation of TP53 Activity through Phosphorylation R-HSA-167172: Transcription of the HIV genome R-HSA-3700989: Transcriptional Regulation by TP53

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa03022 Basal transcription factors

Reactome

R-HSA-1643685: Disease
R-HSA-74160: Gene Expression
R-HSA-212436: Generic Transcription Pathway
R-HSA-162906: HIV Infection
R-HSA-162587: HIV Life Cycle
R-HSA-167161: HIV Transcription Initiation
R-HSA-5663205: Infectious disease
R-HSA-162599: Late Phase of HIV Life Cycle
R-HSA-167162: RNA Polymerase II HIV Promoter Escape
R-HSA-674695: RNA Polymerase II Pre-transcription Events
R-HSA-73776: RNA Polymerase II Promoter Escape
R-HSA-73857: RNA Polymerase II Transcription
R-HSA-75953: RNA Polymerase II Transcription Initiation
R-HSA-76042: RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-73779: RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-5633007: Regulation of TP53 Activity
R-HSA-6804756: Regulation of TP53 Activity through Phosphorylation
R-HSA-167172: Transcription of the HIV genome
R-HSA-3700989: Transcriptional Regulation by TP53

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM1228400	c.5527G>A	p.V1843I	Substitution - Missense	Large_intestine
COSM5028954	c.4837C>G	p.Q1613E	Substitution - Missense	Breast
COSM457990	c.4111C>T	p.H1371Y	Substitution - Missense	Breast
COSM226875	c.4645G>A	p.D1549N	Substitution - Missense	Skin
COSM1228404	c.380C>T	p.T127M	Substitution - Missense	Breast
COSM757644	c.1946T>C	p.M649T	Substitution - Missense	Lung
COSM4136374	c.3970G>A	p.V1324I	Substitution - Missense	Ovary
COSM375492	c.356A>T	p.D119V	Substitution - Missense	Lung
COSM1124873	c.1124C>A	p.P375H	Substitution - Missense	Endometrium
COSM367773	c.2011C>A	p.L671I	Substitution - Missense	Lung
COSM2157369	c.5291T>G	p.M1764R	Substitution - Missense	Central_nervous_system
COSM3563161	c.5410G>A	p.E1804K	Substitution - Missense	Skin
COSM1228402	c.4277A>G	p.D1426G	Substitution - Missense	Large_intestine
COSM3095732	c.1313C>T	p.P438L	Substitution - Missense	Pancreas
COSM3095861	c.5355C>T	p.D1785D	Substitution - coding silent	Central_nervous_system
COSM4731927	c.1210A>G	p.M404V	Substitution - Missense	Large_intestine
COSM4800958	c.4203+1G>T	p.?	Unknown	Liver
COSM1664454	c.2324A>T	p.E775V	Substitution - Missense	Kidney
COSM1158432	c.1363_1364insC	p.A456fs*4	Insertion - Frameshift	Pancreas
COSM3783621	c.3097T>C	p.S1033P	Substitution - Missense	Prostate
COSM12928	c.2073G>A	p.M691I	Substitution - Missense	Lung
COSM315768	c.12C>A	p.G4G	Substitution - coding silent	Soft_tissue
COSM4731931	c.1930_1931delAA	p.K646fs*31	Deletion - Frameshift	Large_intestine
COSM1124895	c.2850G>T	p.V950V	Substitution - coding silent	Endometrium
COSM4615076	c.1930delA	p.K646fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM220641	c.3140T>C	p.F1047S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM457989	c.2635A>G	p.M879V	Substitution - Missense	Breast
COSM213475	c.488C>T	p.P163L	Substitution - Missense	Breast
COSM4110877	c.968A>T	p.Q323L	Substitution - Missense	Stomach
COSM5515892	c.4689G>T	p.Q1563H	Substitution - Missense	Biliary_tract
COSM326623	c.4036C>G	p.P1346A	Substitution - Missense	Lung
COSM4959342	c.220C>T	p.L74L	Substitution - coding silent	Liver
COSM277583	c.3662G>A	p.R1221Q	Substitution - Missense	Endometrium
COSM5783573	c.1226A>T	p.H409L	Substitution - Missense	Breast
COSM1757286	c.3152C>T	p.S1051L	Substitution - Missense	Urinary_tract
COSM3406566	c.8C>T	p.P3L	Substitution - Missense	Central_nervous_system
COSM4171977	c.3145C>T	p.R1049C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5773708	c.1315T>C	p.S439P	Substitution - Missense	Breast
COSM1491247	c.3495C>T	p.L1165L	Substitution - coding silent	Breast
COSM1124898	c.3113G>C	p.R1038P	Substitution - Missense	Endometrium
COSM1664456	c.2972C>A	p.T991K	Substitution - Missense	Kidney
COSM757646	c.1417G>A	p.E473K	Substitution - Missense	Lung
COSM3983954	c.1314T>C	p.P438P	Substitution - coding silent	Thyroid
COSM216215	c.5221A>G	p.I1741V	Substitution - Missense	Central_nervous_system
COSM3723784	c.5483A>G	p.E1828G	Substitution - Missense	Upper_aerodigestive_tract
COSM488574	c.2078A>G	p.Q693R	Substitution - Missense	Kidney
COSM216214	c.3203G>A	p.R1068H	Substitution - Missense	Central_nervous_system
COSM5760593	c.3112C>A	p.R1038S	Substitution - Missense	Pancreas
COSM4731952	c.5224C>T	p.Q1742*	Substitution - Nonsense	Large_intestine
COSM4840046	c.684A>C	p.E228D	Substitution - Missense	Cervix
COSM1738263	c.4325G>A	p.R1442Q	Substitution - Missense	Ovary
COSM488577	c.2986C>T	p.R996C	Substitution - Missense	Kidney
COSM488573	c.1566T>C	p.S522S	Substitution - coding silent	Kidney
COSM253852	c.339C>T	p.I113I	Substitution - coding silent	Urinary_tract
COSM1124866	c.458G>T	p.C153F	Substitution - Missense	Endometrium
COSM4911024	c.712-1G>T	p.?	Unknown	Liver
COSM3940102	c.4693C>T	p.R1565W	Substitution - Missense	Oesophagus
COSM4955678	c.2926A>C	p.K976Q	Substitution - Missense	Liver
COSM1124902	c.3505C>T	p.R1169C	Substitution - Missense	Endometrium
COSM1228408	c.365G>A	p.R122Q	Substitution - Missense	Skin
COSM225109	c.2527C>T	p.R843W	Substitution - Missense	Skin
COSM5351844	c.185G>A	p.C62Y	Substitution - Missense	Kidney
COSM1124878	c.1680A>T	p.E560D	Substitution - Missense	Endometrium
COSM1469223	c.3202C>T	p.R1068C	Substitution - Missense	Large_intestine
COSM5762490	c.4981G>A	p.D1661N	Substitution - Missense	Pancreas
COSM757641	c.2854G>A	p.G952R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1124871	c.1042C>T	p.L348L	Substitution - coding silent	Endometrium
COSM1124884	c.2053G>A	p.E685K	Substitution - Missense	Endometrium
COSM20440	c.1937delA	p.K646fs*4	Deletion - Frameshift	Large_intestine
COSM368387	c.4324C>T	p.R1442W	Substitution - Missense	Stomach
COSM1124882	c.1997G>A	p.R666H	Substitution - Missense	Endometrium
COSM1124903	c.3535T>C	p.Y1179H	Substitution - Missense	Endometrium
COSM4110893	c.2189T>A	p.F730Y	Substitution - Missense	Stomach
COSM1228408	c.365G>A	p.R122Q	Substitution - Missense	Large_intestine
COSM4959342	c.220C>T	p.L74L	Substitution - coding silent	Liver
COSM1626099	c.1663-10C>G	p.?	Unknown	Liver
COSM3563164	c.5423C>T	p.P1808L	Substitution - Missense	Skin
COSM3095805	c.3587G>A	p.R1196H	Substitution - Missense	Large_intestine
COSM757634	c.4761T>A	p.S1587R	Substitution - Missense	Lung
COSM195246	c.1024C>T	p.R342C	Substitution - Missense	Endometrium
COSM488577	c.2986C>T	p.R996C	Substitution - Missense	Endometrium
COSM1124912	c.3707G>T	p.R1236M	Substitution - Missense	Endometrium
COSM1267350	c.3890A>T	p.E1297V	Substitution - Missense	Oesophagus
COSM173492	c.3376C>T	p.R1126W	Substitution - Missense	Endometrium
COSM5906244	c.5176G>A	p.E1726K	Substitution - Missense	Skin
COSM1124872	c.1094G>A	p.G365D	Substitution - Missense	Endometrium
COSM5487225	c.2510A>T	p.H837L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5623559	c.4729G>A	p.A1577T	Substitution - Missense	Oesophagus
COSM216214	c.3203G>A	p.R1068H	Substitution - Missense	Central_nervous_system
COSM20998	c.983_988delTAGATA	p.I328_K330>K	Complex - deletion inframe	Breast
COSM457987	c.2327T>G	p.L776*	Substitution - Nonsense	Breast
COSM76666	c.4248C>G	p.D1416E	Substitution - Missense	Ovary
COSM3095734	c.1334C>T	p.A445V	Substitution - Missense	Stomach
COSM3845315	c.4977T>A	p.S1659S	Substitution - coding silent	Breast
COSM4933882	c.4787T>C	p.I1596T	Substitution - Missense	Liver
COSM315770	c.1167G>A	p.E389E	Substitution - coding silent	Lung
COSM1124865	c.368G>T	p.R123I	Substitution - Missense	Endometrium
COSM4489825	c.3473C>T	p.S1158F	Substitution - Missense	Skin
COSM1626107	c.3392G>A	p.R1131Q	Substitution - Missense	Liver
COSM4110906	c.3656A>G	p.E1219G	Substitution - Missense	Stomach
COSM4136371	c.3860C>T	p.A1287V	Substitution - Missense	Ovary
COSM376976	c.4154T>A	p.L1385Q	Substitution - Missense	Lung
COSM3940105	c.5505A>G	p.E1835E	Substitution - coding silent	Oesophagus
COSM1738263	c.4325G>A	p.R1442Q	Substitution - Missense	Ovary
COSM3780553	c.4750+1G>A	p.?	Unknown	Pancreas
COSM32331	c.4877delT	p.L1626fs*6	Deletion - Frameshift	Breast
COSM4110913	c.4364A>C	p.N1455T	Substitution - Missense	Stomach
COSM3563152	c.2503C>T	p.P835S	Substitution - Missense	Skin
COSM4878237	c.3105A>G	p.E1035E	Substitution - coding silent	Prostate
COSM20998	c.983_988delTAGATA	p.I328_K330>K	Complex - deletion inframe	Breast
COSM1664458	c.3349C>A	p.L1117I	Substitution - Missense	Kidney
COSM757638	c.2879G>T	p.G960V	Substitution - Missense	Lung
COSM3406573	c.4293C>T	p.R1431R	Substitution - coding silent	Central_nervous_system
COSM3563158	c.5129G>A	p.S1710N	Substitution - Missense	Skin
COSM252857	c.2560C>T	p.R854C	Substitution - Missense	Endometrium
COSM1124874	c.1259A>T	p.D420V	Substitution - Missense	Endometrium
COSM277583	c.3662G>A	p.R1221Q	Substitution - Missense	Cervix
COSM355705	c.2023G>T	p.D675Y	Substitution - Missense	Lung
COSM76667	c.5199A>C	p.E1733D	Substitution - Missense	Bone
COSM4757067	c.2245C>T	p.R749C	Substitution - Missense	Stomach
COSM5836029	c.5045delA	p.K1683fs*3	Deletion - Frameshift	Breast
COSM4513859	c.890C>T	p.A297V	Substitution - Missense	Skin
COSM388252	c.3126G>T	p.G1042G	Substitution - coding silent	Lung
COSM4853760	c.3079G>A	p.D1027N	Substitution - Missense	Cervix
COSM4968238	c.1582G>T	p.E528*	Substitution - Nonsense	Adrenal_gland
COSM1124890	c.2528G>A	p.R843Q	Substitution - Missense	Endometrium
COSM488578	c.3146G>A	p.R1049H	Substitution - Missense	Kidney
COSM1469227	c.4127G>A	p.R1376Q	Substitution - Missense	Large_intestine
COSM1497336	c.3998C>T	p.A1333V	Substitution - Missense	Kidney
COSM4110900	c.2834A>T	p.K945M	Substitution - Missense	Stomach
COSM1469219	c.2990G>A	p.R997H	Substitution - Missense	Large_intestine
COSM3095749	c.1976G>T	p.G659V	Substitution - Missense	Kidney
COSM247696	c.5015C>A	p.S1672Y	Substitution - Missense	Prostate
COSM270286	c.5118G>A	p.Q1706Q	Substitution - coding silent	Large_intestine
COSM1124916	c.4937C>A	p.P1646H	Substitution - Missense	Endometrium
COSM1228406	c.2012T>C	p.L671P	Substitution - Missense	Large_intestine
COSM1626105	c.3224+8G>A	p.?	Unknown	Liver
COSM5010174	c.1306T>A	p.W436R	Substitution - Missense	Large_intestine
COSM1228398	c.4505A>C	p.D1502A	Substitution - Missense	Large_intestine
COSM4731943	c.3089G>A	p.R1030H	Substitution - Missense	Large_intestine
COSM5487225	c.2510A>T	p.H837L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5713917	c.4357G>A	p.V1453M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1626105	c.3224+8G>A	p.?	Unknown	Liver
COSM422496	c.2462G>A	p.R821Q	Substitution - Missense	Urinary_tract
COSM164773	c.4577G>T	p.W1526L	Substitution - Missense	Breast
COSM3973840	c.3671G>A	p.R1224Q	Substitution - Missense	Central_nervous_system
COSM5701111	c.4325_4326insG	p.E1443fs*14	Insertion - Frameshift	Soft_tissue
COSM5898071	c.1822G>T	p.G608W	Substitution - Missense	Skin
COSM4731946	c.3762G>A	p.M1254I	Substitution - Missense	Large_intestine
COSM488575	c.2359C>T	p.P787S	Substitution - Missense	Kidney
COSM1626105	c.3224+8G>A	p.?	Unknown	Liver
COSM2157369	c.5291T>G	p.M1764R	Substitution - Missense	Central_nervous_system
COSM3095765	c.2871G>T	p.T957T	Substitution - coding silent	Large_intestine
COSM4955678	c.2926A>C	p.K976Q	Substitution - Missense	Liver
COSM4110910	c.3670C>T	p.R1224W	Substitution - Missense	Stomach
COSM315768	c.12C>A	p.G4G	Substitution - coding silent	Lung
COSM5813302	c.431A>G	p.Y144C	Substitution - Missense	Liver
COSM1124914	c.3944T>G	p.L1315R	Substitution - Missense	Endometrium
COSM757636	c.3127C>T	p.P1043S	Substitution - Missense	Lung
COSM1570048	c.501G>A	p.K167K	Substitution - coding silent	Large_intestine
COSM5506041	c.4291C>T	p.R1431C	Substitution - Missense	Biliary_tract
COSM1124904	c.3542G>A	p.R1181H	Substitution - Missense	Stomach
COSM225109	c.2527C>T	p.R843W	Substitution - Missense	Endometrium
COSM4982435	c.4330G>A	p.E1444K	Substitution - Missense	Oesophagus
COSM1626109	c.5408A>G	p.Y1803C	Substitution - Missense	Liver
COSM757648	c.736G>T	p.G246*	Substitution - Nonsense	Lung
COSM5009366	c.2594A>C	p.K865T	Substitution - Missense	Large_intestine
COSM4171974	c.2968G>A	p.G990R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1124889	c.2508C>A	p.S836S	Substitution - coding silent	Endometrium
COSM3563140	c.965C>T	p.S322F	Substitution - Missense	Skin
COSM368387	c.4324C>T	p.R1442W	Substitution - Missense	Lung
COSM1469225	c.3989T>G	p.I1330S	Substitution - Missense	Large_intestine
COSM4794523	c.1032G>A	p.G344G	Substitution - coding silent	Liver
COSM4615076	c.1930delA	p.K646fs*4	Deletion - Frameshift	Large_intestine
COSM5049185	c.5267G>T	p.G1756V	Substitution - Missense	Oesophagus
COSM3563149	c.2360C>T	p.P787L	Substitution - Missense	Skin
COSM121995	c.3561A>G	p.K1187K	Substitution - coding silent	Upper_aerodigestive_tract
COSM1626103	c.2796G>T	p.W932C	Substitution - Missense	Liver
COSM164775	c.4538A>T	p.N1513I	Substitution - Missense	Breast
COSM757635	c.3837C>G	p.C1279W	Substitution - Missense	Lung
COSM1124876	c.1463C>T	p.A488V	Substitution - Missense	Endometrium
COSM488576	c.2606G>A	p.R869H	Substitution - Missense	Kidney
COSM1735252	c.4701C>A	p.S1567R	Substitution - Missense	Pancreas
COSM5008130	c.4262T>C	p.I1421T	Substitution - Missense	Large_intestine
COSM5602391	c.1254G>A	p.G418G	Substitution - coding silent	Skin
COSM3992576	c.4665+2T>C	p.?	Unknown	Kidney
COSM1645469	c.3674G>A	p.R1225Q	Substitution - Missense	Large_intestine
COSM3845318	c.5569G>A	p.E1857K	Substitution - Missense	Breast
COSM404454	c.3064C>T	p.R1022C	Substitution - Missense	Lung
COSM6005133	c.2438G>A	p.R813H	Substitution - Missense	Prostate
COSM253852	c.339C>T	p.I113I	Substitution - coding silent	Urinary_tract
COSM1288327	c.86A>G	p.D29G	Substitution - Missense	Autonomic_ganglia
COSM1124893	c.2616G>A	p.T872T	Substitution - coding silent	Endometrium
COSM315771	c.3881C>T	p.A1294V	Substitution - Missense	Lung
COSM5748310	c.4718A>G	p.N1573S	Substitution - Missense	Pancreas
COSM137274	c.5590G>T	p.G1864W	Substitution - Missense	Skin
COSM4769268	c.3947T>C	p.I1316T	Substitution - Missense	Biliary_tract
COSM1124911	c.3698G>A	p.R1233Q	Substitution - Missense	Endometrium
COSM3095841	c.4717A>G	p.N1573D	Substitution - Missense	Large_intestine
COSM1124915	c.4475A>G	p.E1492G	Substitution - Missense	Endometrium
COSM1124894	c.2620G>T	p.E874*	Substitution - Nonsense	Endometrium
COSM1757286	c.3152C>T	p.S1051L	Substitution - Missense	Urinary_tract
COSM4152570	c.4943A>C	p.D1648A	Substitution - Missense	Kidney
COSM5960564	c.410C>T	p.S137L	Substitution - Missense	Breast
COSM5769828	c.595C>G	p.Q199E	Substitution - Missense	Breast
COSM3973849	c.5189G>T	p.S1730I	Substitution - Missense	Central_nervous_system
COSM4171971	c.2843T>G	p.L948R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1469227	c.4127G>A	p.R1376Q	Substitution - Missense	Breast
COSM258129	c.3515G>A	p.R1172Q	Substitution - Missense	Large_intestine
COSM4848955	c.1946T>G	p.M649R	Substitution - Missense	Cervix
COSM1316521	c.5174A>C	p.E1725A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1124919	c.5544C>A	p.H1848Q	Substitution - Missense	Endometrium
COSM376213	c.3824C>A	p.T1275N	Substitution - Missense	Lung
COSM4731924	c.1091A>G	p.Y364C	Substitution - Missense	Large_intestine
COSM5367135	c.363C>T	p.S121S	Substitution - coding silent	Large_intestine
COSM1469221	c.3088C>T	p.R1030C	Substitution - Missense	Oesophagus
COSM388596	c.3705G>A	p.K1235K	Substitution - coding silent	Lung
COSM5775431	c.3835T>C	p.C1279R	Substitution - Missense	Breast
COSM356289	c.5351G>T	p.G1784V	Substitution - Missense	Lung
COSM4803581	c.864G>T	p.Q288H	Substitution - Missense	Liver
COSM1124908	c.3661C>T	p.R1221*	Substitution - Nonsense	Endometrium
COSM241834	c.1714_1730del17	p.Y572fs*100	Deletion - Frameshift	Prostate
COSM225109	c.2527C>T	p.R843W	Substitution - Missense	Endometrium
COSM263955	c.2477G>A	p.R826Q	Substitution - Missense	Large_intestine
COSM4484796	c.2790C>T	p.A930A	Substitution - coding silent	Skin
COSM1469221	c.3088C>T	p.R1030C	Substitution - Missense	Large_intestine
COSM1124875	c.1436G>A	p.R479H	Substitution - Missense	Endometrium
COSM1124897	c.3026A>C	p.K1009T	Substitution - Missense	Endometrium
COSM258970	c.530G>A	p.G177D	Substitution - Missense	Large_intestine
COSM277583	c.3662G>A	p.R1221Q	Substitution - Missense	Stomach
COSM3390775	c.4300G>A	p.V1434M	Substitution - Missense	Pancreas
COSM285555	c.5054T>G	p.V1685G	Substitution - Missense	Large_intestine
COSM1124880	c.1918C>A	p.L640I	Substitution - Missense	Endometrium
COSM3563134	c.861C>T	p.S287S	Substitution - coding silent	Skin
COSM5008194	c.1031G>T	p.G344V	Substitution - Missense	Large_intestine
COSM4928219	c.3520G>A	p.E1174K	Substitution - Missense	Liver
COSM5698699	c.216delG	p.L74fs*4	Deletion - Frameshift	Soft_tissue
COSM1124891	c.2548G>A	p.A850T	Substitution - Missense	Endometrium
COSM4422800	c.1801C>T	p.P601S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4956329	c.598G>A	p.A200T	Substitution - Missense	Liver
COSM3563146	c.1601C>T	p.S534F	Substitution - Missense	Skin
COSM4731934	c.2567-1G>T	p.?	Unknown	Large_intestine
COSM4803581	c.864G>T	p.Q288H	Substitution - Missense	Liver
COSM3364171	c.4940C>G	p.P1647R	Substitution - Missense	Kidney
COSM137754	c.1501A>G	p.T501A	Substitution - Missense	Skin
COSM1124867	c.472C>T	p.P158S	Substitution - Missense	Endometrium
COSM4110916	c.4587T>C	p.H1529H	Substitution - coding silent	Stomach
COSM1599757	c.1616G>A	p.R539Q	Substitution - Missense	Endometrium
COSM225109	c.2527C>T	p.R843W	Substitution - Missense	Endometrium
COSM4136368	c.3076A>C	p.I1026L	Substitution - Missense	Ovary
COSM4649442	c.1820T>C	p.M607T	Substitution - Missense	Large_intestine
COSM3406570	c.3120A>C	p.G1040G	Substitution - coding silent	Central_nervous_system
COSM308714	c.4324_4325insG	p.E1443fs*14	Insertion - Frameshift	Lung
COSM757649	c.728G>A	p.R243H	Substitution - Missense	Lung
COSM1124888	c.2352G>A	p.Q784Q	Substitution - coding silent	Endometrium
COSM3965486	c.1087G>T	p.D363Y	Substitution - Missense	Lung
COSM1293062	c.1736G>T	p.G579V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4589532	c.5274A>G	p.R1758R	Substitution - coding silent	Bone
COSM164774	c.569C>A	p.S190Y	Substitution - Missense	Breast
COSM3414283	c.4748A>T	p.N1583I	Substitution - Missense	Oesophagus
COSM5783573	c.1226A>T	p.H409L	Substitution - Missense	Breast
COSM5984556	c.1802C>T	p.P601L	Substitution - Missense	Upper_aerodigestive_tract
COSM457985	c.1753G>A	p.G585R	Substitution - Missense	Breast
COSM5633414	c.5375G>C	p.G1792A	Substitution - Missense	Oesophagus
COSM315769	c.4517C>T	p.A1506V	Substitution - Missense	Large_intestine
COSM5009369	c.4523C>A	p.S1508Y	Substitution - Missense	Large_intestine
COSM4110910	c.3670C>T	p.R1224W	Substitution - Missense	Oesophagus
COSM4644982	c.2328A>G	p.L776L	Substitution - coding silent	Large_intestine
COSM4608100	c.465G>T	p.L155F	Substitution - Missense	Adrenal_gland
COSM5727062	c.511G>A	p.D171N	Substitution - Missense	Skin
COSM117336	c.956C>G	p.S319C	Substitution - Missense	Ovary
COSM326624	c.5536C>T	p.Q1846*	Substitution - Nonsense	Lung
COSM1236322	c.378G>T	p.Q126H	Substitution - Missense	Autonomic_ganglia
COSM1626103	c.2796G>T	p.W932C	Substitution - Missense	Liver
COSM1626105	c.3224+8G>A	p.?	Unknown	Liver
COSM323723	c.4808C>G	p.T1603R	Substitution - Missense	Lung
COSM3563131	c.89C>T	p.S30F	Substitution - Missense	Skin
COSM457984	c.1312C>T	p.P438S	Substitution - Missense	Endometrium
COSM1124879	c.1772A>G	p.H591R	Substitution - Missense	Endometrium
COSM3095841	c.4717A>G	p.N1573D	Substitution - Missense	Large_intestine
COSM5367186	c.900A>T	p.P300P	Substitution - coding silent	Large_intestine
COSM5593370	c.1512C>T	p.P504P	Substitution - coding silent	Skin
COSM1124863	c.256G>T	p.E86*	Substitution - Nonsense	Endometrium
COSM3563143	c.1477C>T	p.R493W	Substitution - Missense	Skin
COSM757643	c.1954C>G	p.Q652E	Substitution - Missense	Lung
COSM78604	c.5150T>G	p.L1717R	Substitution - Missense	Ovary
COSM457991	c.5557G>A	p.E1853K	Substitution - Missense	Breast
COSM12928	c.2073G>A	p.M691I	Substitution - Missense	Lung
COSM1644069	c.4819-2A>G	p.?	Unknown	Stomach
COSM1124862	c.124C>A	p.L42I	Substitution - Missense	Endometrium
COSM1228404	c.380C>T	p.T127M	Substitution - Missense	Large_intestine
COSM1124907	c.3650G>A	p.R1217Q	Substitution - Missense	Endometrium
COSM1124890	c.2528G>A	p.R843Q	Substitution - Missense	Endometrium
COSM5621955	c.2381C>T	p.P794L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM277583	c.3662G>A	p.R1221Q	Substitution - Missense	Large_intestine
COSM4110903	c.3181C>T	p.R1061C	Substitution - Missense	Stomach
COSM5682683	c.2177A>G	p.H726R	Substitution - Missense	Soft_tissue
COSM5788481	c.221T>G	p.L74R	Substitution - Missense	Breast
COSM164776	c.2062G>T	p.G688*	Substitution - Nonsense	Breast
COSM4615076	c.1930delA	p.K646fs*4	Deletion - Frameshift	Large_intestine
COSM213344	c.4186A>G	p.M1396V	Substitution - Missense	Breast
COSM462187	c.2620G>A	p.E874K	Substitution - Missense	Cervix
COSM1756660	c.4021C>G	p.L1341V	Substitution - Missense	Urinary_tract
COSM5681154	c.3814C>A	p.H1272N	Substitution - Missense	Soft_tissue
COSM1738263	c.4325G>A	p.R1442Q	Substitution - Missense	Ovary
COSM1124918	c.5332A>C	p.S1778R	Substitution - Missense	Endometrium
COSM1124892	c.2605C>T	p.R869C	Substitution - Missense	Endometrium
COSM1491247	c.3495C>T	p.L1165L	Substitution - coding silent	Breast
COSM216215	c.5221A>G	p.I1741V	Substitution - Missense	Central_nervous_system
COSM1626101	c.1684A>T	p.K562*	Substitution - Nonsense	Liver
COSM4434920	c.3649C>T	p.R1217W	Substitution - Missense	Oesophagus
COSM1124905	c.3544T>C	p.C1182R	Substitution - Missense	Endometrium
COSM757641	c.2854G>A	p.G952R	Substitution - Missense	Lung
COSM757647	c.1178G>A	p.G393D	Substitution - Missense	Lung
COSM379510	c.882C>T	p.Y294Y	Substitution - coding silent	Lung
COSM3390775	c.4300G>A	p.V1434M	Substitution - Missense	Pancreas
COSM252857	c.2560C>T	p.R854C	Substitution - Missense	Ovary
COSM1124906	c.3592C>T	p.R1198W	Substitution - Missense	Endometrium
COSM757633	c.4990G>T	p.V1664L	Substitution - Missense	Lung
COSM1124881	c.1988T>G	p.F663C	Substitution - Missense	Endometrium
COSM5906241	c.3715G>A	p.E1239K	Substitution - Missense	Skin
COSM5413034	c.3381G>A	p.K1127K	Substitution - coding silent	Skin
COSM4110880	c.1288C>T	p.R430C	Substitution - Missense	Stomach
COSM4110896	c.2547C>T	p.C849C	Substitution - coding silent	Stomach
COSM4171965	c.1985T>G	p.M662R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3992573	c.3720G>A	p.K1240K	Substitution - coding silent	Kidney
COSM1124917	c.5100G>T	p.E1700D	Substitution - Missense	Endometrium
COSM4800958	c.4203+1G>T	p.?	Unknown	Liver
COSM4965966	c.3541C>T	p.R1181C	Substitution - Missense	Pancreas
COSM3357457	c.1100A>C	p.K367T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM757645	c.1841A>C	p.Q614P	Substitution - Missense	Lung
COSM1469217	c.2097G>T	p.K699N	Substitution - Missense	Large_intestine
COSM4110887	c.1850G>A	p.R617H	Substitution - Missense	Stomach
COSM4956329	c.598G>A	p.A200T	Substitution - Missense	Liver
COSM5889439	c.2263C>T	p.H755Y	Substitution - Missense	Skin
COSM195260	c.5522C>T	p.P1841L	Substitution - Missense	Stomach
COSM3973846	c.4010G>T	p.R1337L	Substitution - Missense	Central_nervous_system
COSM4110890	c.1996C>T	p.R666C	Substitution - Missense	Stomach
COSM1124896	c.2899A>G	p.K967E	Substitution - Missense	Endometrium
COSM20489	c.1358G>A	p.G453D	Substitution - Missense	Large_intestine
COSM5413037	c.5503G>A	p.E1835K	Substitution - Missense	Skin
COSM4919661	c.5372A>G	p.H1791R	Substitution - Missense	Liver
COSM1158616	c.4665+1G>A	p.?	Unknown	Pancreas
COSM3780553	c.4750+1G>A	p.?	Unknown	Pancreas
COSM5825365	c.3250T>C	p.S1084P	Substitution - Missense	Pancreas
COSM1757288	c.3229C>G	p.L1077V	Substitution - Missense	Urinary_tract
COSM1124900	c.3348G>T	p.Q1116H	Substitution - Missense	Endometrium
COSM1682718	c.10G>A	p.G4S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM78603	c.1372C>G	p.L458V	Substitution - Missense	Ovary
COSM4468658	c.1492C>T	p.P498S	Substitution - Missense	Skin
COSM5782116	c.498G>A	p.M166I	Substitution - Missense	Breast
COSM21190	c.1951G>A	p.E651K	Substitution - Missense	Skin
COSM1644067	c.4450-3C>G	p.?	Unknown	Stomach
COSM4391273	c.85G>A	p.D29N	Substitution - Missense	Breast
COSM457986	c.2132A>G	p.D711G	Substitution - Missense	Breast
COSM3357460	c.4490C>G	p.P1497R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1724661	c.30G>A	p.R10R	Substitution - coding silent	Skin
COSM1124898	c.3113G>C	p.R1038P	Substitution - Missense	Oesophagus
COSM4883802	c.2221C>A	p.Q741K	Substitution - Missense	Upper_aerodigestive_tract
COSM1124870	c.889G>A	p.A297T	Substitution - Missense	Endometrium
COSM3563155	c.4447G>A	p.E1483K	Substitution - Missense	Skin
COSM1626099	c.1663-10C>G	p.?	Unknown	Liver
COSM1267352	c.4303C>T	p.R1435C	Substitution - Missense	Oesophagus
COSM757640	c.2878G>T	p.G960C	Substitution - Missense	Lung
COSM4822013	c.5461G>A	p.G1821S	Substitution - Missense	Cervix
COSM1124904	c.3542G>A	p.R1181H	Substitution - Missense	Endometrium
COSM488578	c.3146G>A	p.R1049H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1124886	c.2271G>T	p.M757I	Substitution - Missense	Endometrium
COSM1315674	c.3852A>G	p.Q1284Q	Substitution - coding silent	Urinary_tract
COSM5678681	c.2445C>T	p.F815F	Substitution - coding silent	Soft_tissue
COSM5771714	c.2348G>T	p.G783V	Substitution - Missense	Breast
COSM5367135	c.363C>T	p.S121S	Substitution - coding silent	Large_intestine
COSM1124901	c.3488G>A	p.R1163H	Substitution - Missense	Endometrium
COSM4731949	c.4115A>C	p.K1372T	Substitution - Missense	Large_intestine
COSM20998	c.983_988delTAGATA	p.I328_K330>K	Complex - deletion inframe	Breast
COSM35802	c.218G>A	p.G73E	Substitution - Missense	Central_nervous_system
COSM3563137	c.964T>C	p.S322P	Substitution - Missense	Skin
COSM4655482	c.2783G>A	p.R928H	Substitution - Missense	Large_intestine
COSM388251	c.3123G>C	p.E1041D	Substitution - Missense	Lung
COSM3973843	c.3812G>T	p.G1271V	Substitution - Missense	Central_nervous_system
COSM3845312	c.1616G>T	p.R539L	Substitution - Missense	Breast
COSM76667	c.5199A>C	p.E1733D	Substitution - Missense	Ovary
COSM4888895	c.5447G>T	p.S1816I	Substitution - Missense	Upper_aerodigestive_tract
COSM5593367	c.4988C>T	p.S1663F	Substitution - Missense	Skin
COSM1626097	c.226A>G	p.S76G	Substitution - Missense	Liver
COSM1158616	c.4665+1G>A	p.?	Unknown	Pancreas
COSM1124877	c.1610A>G	p.K537R	Substitution - Missense	Endometrium
COSM164776	c.2062G>T	p.G688*	Substitution - Nonsense	Breast
COSM4110884	c.1516G>A	p.D506N	Substitution - Missense	Stomach
COSM5009363	c.2103G>T	p.K701N	Substitution - Missense	Large_intestine
COSM1124887	c.2286C>A	p.F762L	Substitution - Missense	Endometrium
COSM1124909	c.3678G>T	p.R1226S	Substitution - Missense	Endometrium
COSM4757072	c.3790T>C	p.C1264R	Substitution - Missense	Stomach
COSM4171968	c.2063G>A	p.G688E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM21190	c.1951G>A	p.E651K	Substitution - Missense	Skin
COSM220455	c.2999T>C	p.L1000P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4391264	c.4612C>T	p.P1538S	Substitution - Missense	Breast
COSM1124883	c.2003C>T	p.P668L	Substitution - Missense	Endometrium
COSM1124885	c.2235C>G	p.N745K	Substitution - Missense	Endometrium
COSM1158616	c.4665+1G>A	p.?	Unknown	Pancreas
COSM76665	c.1877G>A	p.G626D	Substitution - Missense	Ovary
COSM1124901	c.3488G>A	p.R1163H	Substitution - Missense	Endometrium
COSM4110919	c.4778C>T	p.A1593V	Substitution - Missense	Stomach
COSM3701882	c.1715A>G	p.Y572C	Substitution - Missense	Liver
COSM1124901	c.3488G>A	p.R1163H	Substitution - Missense	Endometrium
COSM1599757	c.1616G>A	p.R539Q	Substitution - Missense	Large_intestine
COSM20440	c.1937delA	p.K646fs*4	Deletion - Frameshift	Large_intestine
COSM225109	c.2527C>T	p.R843W	Substitution - Missense	Endometrium
COSM1124869	c.670C>T	p.P224S	Substitution - Missense	Endometrium
COSM380041	c.4942G>T	p.D1648Y	Substitution - Missense	Lung
COSM5472912	c.3996-9T>C	p.?	Unknown	Large_intestine
COSM1599757	c.1616G>A	p.R539Q	Substitution - Missense	Endometrium
COSM1124891	c.2548G>A	p.A850T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4794523	c.1032G>A	p.G344G	Substitution - coding silent	Liver
COSM1124913	c.3940G>T	p.E1314*	Substitution - Nonsense	Endometrium
COSM1124910	c.3694A>G	p.R1232G	Substitution - Missense	Endometrium
COSM1331707	c.3319A>C	p.M1107L	Substitution - Missense	Ovary
COSM315769	c.4517C>T	p.A1506V	Substitution - Missense	Large_intestine
COSM3095682	c.229C>T	p.L77L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4110887	c.1850G>A	p.R617H	Substitution - Missense	Large_intestine
COSM1190579	c.3580T>G	p.Y1194D	Substitution - Missense	Lung
COSM1124864	c.334G>T	p.D112Y	Substitution - Missense	Endometrium
COSM1626101	c.1684A>T	p.K562*	Substitution - Nonsense	Liver
COSM3095785	c.3106C>T	p.Q1036*	Substitution - Nonsense	Large_intestine
COSM4731940	c.2987G>A	p.R996H	Substitution - Missense	Large_intestine
COSM4731917	c.151C>A	p.Q51K	Substitution - Missense	Large_intestine
COSM88684	c.4531C>G	p.L1511V	Substitution - Missense	Ovary
COSM4110871	c.169G>A	p.V57I	Substitution - Missense	Stomach
COSM422497	c.1417G>C	p.E473Q	Substitution - Missense	Urinary_tract
COSM757642	c.2032C>G	p.L678V	Substitution - Missense	Lung
COSM4911743	c.2264A>G	p.H755R	Substitution - Missense	Liver
COSM4399770	c.3182G>A	p.R1061H	Substitution - Missense	Skin
COSM457984	c.1312C>T	p.P438S	Substitution - Missense	Breast
COSM88683	c.4523C>T	p.S1508F	Substitution - Missense	Ovary
COSM3563128	c.82G>A	p.E28K	Substitution - Missense	Skin
COSM1756660	c.4021C>G	p.L1341V	Substitution - Missense	Urinary_tract
COSM6005133	c.2438G>A	p.R813H	Substitution - Missense	Prostate
COSM5906247	c.1821G>A	p.M607I	Substitution - Missense	Skin
COSM1738263	c.4325G>A	p.R1442Q	Substitution - Missense	Ovary
COSM21190	c.1951G>A	p.E651K	Substitution - Missense	Skin
COSM488578	c.3146G>A	p.R1049H	Substitution - Missense	Oesophagus
COSM4731955	c.5443A>G	p.T1815A	Substitution - Missense	Large_intestine
COSM4110874	c.701G>A	p.R234Q	Substitution - Missense	Stomach
COSM4731920	c.534G>T	p.E178D	Substitution - Missense	Large_intestine
COSM20489	c.1358G>A	p.G453D	Substitution - Missense	Large_intestine
COSM20998	c.983_988delTAGATA	p.I328_K330>K	Complex - deletion inframe	Breast
COSM247695	c.3064C>G	p.R1022G	Substitution - Missense	Prostate
COSM457988	c.2411G>A	p.R804Q	Substitution - Missense	Breast
COSM4380313	c.491G>A	p.G164E	Substitution - Missense	Large_intestine
COSM5064858	c.4929G>A	p.T1643T	Substitution - coding silent	Stomach
COSM4731937	c.2667T>C	p.Y889Y	Substitution - coding silent	Large_intestine
COSM457984	c.1312C>T	p.P438S	Substitution - Missense	Skin
COSM35802	c.218G>A	p.G73E	Substitution - Missense	Central_nervous_system
COSM315769	c.4517C>T	p.A1506V	Substitution - Missense	Lung
COSM1124899	c.3197G>T	p.C1066F	Substitution - Missense	Endometrium
COSM3780550	c.3860C>G	p.A1287G	Substitution - Missense	Pancreas
COSM1124892	c.2605C>T	p.R869C	Substitution - Missense	Stomach
COSM1626107	c.3392G>A	p.R1131Q	Substitution - Missense	Liver
COSM4919976	c.1448A>G	p.N483S	Substitution - Missense	Liver
COSM1757288	c.3229C>G	p.L1077V	Substitution - Missense	Urinary_tract
COSM5367186	c.900A>T	p.P300P	Substitution - coding silent	Large_intestine
COSM277582	c.2494A>C	p.K832Q	Substitution - Missense	Large_intestine
COSM195246	c.1024C>T	p.R342C	Substitution - Missense	Large_intestine
COSM216214	c.3203G>A	p.R1068H	Substitution - Missense	Endometrium
COSM1331709	c.2583G>A	p.W861*	Substitution - Nonsense	Ovary

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
24449214	mutation	T Acute Lymphoblastic Leukemia	The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL).
23359684	mutation	Endometrial Serous Adenocarcinoma	In addition to well-known cancer genes (i.e., TP53, PIK3CA, PPP2R1A, KRAS, FBXW7), there were frequent mutations in CHD4/Mi2b, a member of the NuRD-chromatin-remodeling complex, and TAF1, an element of the core TFIID transcriptional machinery.
28485815	mutation	Clear Cell Endometrial Cancer	Among the 63 cases of CCEC in this study, we identified frequent somatic mutations in TP53 (39.7%), PIK3CA (23.8%), PIK3R1 (15.9%), ARID1A (15.9%), PPP2R1A (15.9%), SPOP (14.3%), and TAF1 (9.5%), as well as MSI (11.3%).
27571988	mutation	Colorectal Carcinoma	In addition, we analyzed intratumoral heterogeneity (ITH) of TAF1 and TAF1L frameshift mutations in 16 CRC and found that two and one CRC harbored regional ITH of TAF1 and TAF1L frameshift mutations, respectively.

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P21675	307	S	Phosphoserine	autocatalysis	No	None detected
P21675	544	K	N6-acetyllysine	-	No	None detected
P21675	1669	S	Phosphoserine	-	No	None detected
P21675	1672	S	Phosphoserine	-	No	None detected
P21675	1778	S	Phosphoserine	-	Yes	p.S1778R (cancer: UCEC)
P21675	1781	S	Phosphoserine	-	No	None detected
P21675	1799	S	Phosphoserine	-	No	None detected
P21675	1826	S	Phosphoserine	-	No	None detected

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	5.793	5.317	-0.36	0.0378	NS
BRCA	Breast invasive carcinoma	112	1100	6.307	5.936	-0.38	8.73e-10	NS
CESC	Cervical and endocervical cancers	3	306	5.882	5.486	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.25	5.537	0.256	0.0226	NS
ESCA	Esophageal carcinoma	11	185	5.746	5.803	0.021	0.934	NS
GBM	Glioblastoma multiforme	5	166	5.226	5.144	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.001	5.017	0.045	0.721	NS
KIRC	Kidney renal clear cell carcinoma	72	534	5.452	5.423	-0.023	0.74	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	5.227	4.99	-0.219	0.0709	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.074	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.728	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	3.835	3.998	0.073	0.595	NS
LUAD	Lung adenocarcinoma	59	517	5.532	5.491	0.018	0.842	NS
LUSC	Lung squamous cell carcinoma	51	501	5.545	5.585	0.043	0.629	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	5.124	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.237	5.366	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.165	5.129	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.578	5.379	-0.216	0.0207	NS
READ	Rectum adenocarcinoma	10	167	5.311	5.581	0.258	0.353	NS
SARC	Sarcoma	2	263	4.507	5.362	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.098	5.453	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.104	5.603	0.409	3.48e-05	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.042	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.98	5.799	-0.163	0.0265	NS
THYM	Thymoma	2	120	5.96	5.236	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.785	5.155	-0.668	6.9e-10	Under

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	11.7
Adrenal gland	10.4
Appendix	16
Bone marrow	8
Breast	14.4
Cerebral cortex	11.8
Cervix, uterine	17.9
Colon	10
Duodenum	6.9
Endometrium	23.8
Epididymis	12.5
Esophagus	7.9
Fallopian tube	19.4
Gallbladder	12.4
Heart muscle	5
Kidney	8.2
Liver	3.8
Lung	13.7
Lymph node	15.4
Ovary	18.6
Pancreas	2.1
Parathyroid gland	25.7
Placenta	14.9
Prostate	15.3
Rectum	11.3
Salivary gland	2.8
Seminal vesicle	14.3
Skeletal muscle	3.1
Skin	13.6
Small intestine	9.9
Smooth muscle	17.1
Spleen	21.5
Stomach	10.2
Testis	13.3
Thyroid gland	22.2
Tonsil	12.5
Urinary bladder	10.6

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
21685710	overexpression (hypomethylation)	Uterine Corpus Leiomyoma	Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).
20181722	overexpression	Prostate Carcinoma	In tissue microarrays, TAF1 was shown to steadily increase with duration of neoadjuvant androgen withdrawal and with progression to castration resistance. In conclusion, our results indicate that increased TAF1 expression is associated with progression of human prostate cancers to the lethal castration-resistant state.

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.197	6.56e-05	20.8	66.1	13.1	Neutral
BRCA	Breast invasive carcinoma	1075	0.08	0.00896	18.4	67.6	14	Neutral
CESC	Cervical and endocervical cancers	292	0.239	3.56e-05	23.3	65.8	11	Neutral
COAD	Colon adenocarcinoma	449	0.075	0.113	12.5	70.8	16.7	Neutral
ESCA	Esophageal carcinoma	183	0.239	0.0011	18.6	55.2	26.2	Neutral
GBM	Glioblastoma multiforme	147	0.113	0.174	24.5	69.4	6.1	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.143	0.00112	15.4	64.8	19.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.031	0.485	9.7	85.9	4.4	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.148	0.012	10.4	54.9	34.7	Gain
LAML	Acute Myeloid Leukemia	166	0.034	0.663	3	95.8	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	-0.032	0.47	12.5	76.6	10.9	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.181	0.00052	20.3	61.8	17.9	Neutral
LUAD	Lung adenocarcinoma	512	0.07	0.113	16.4	70.1	13.5	Neutral
LUSC	Lung squamous cell carcinoma	498	0.107	0.0172	25.1	59.8	15.1	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.197	0.000603	38.3	32.3	29.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.187	0.0128	12.4	80.8	6.8	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	-0.18	0.0222	29.6	67.3	3.1	Neutral
PRAD	Prostate adenocarcinoma	491	0.01	0.826	6.5	91	2.4	Neutral
READ	Rectum adenocarcinoma	164	0.262	0.000714	17.7	62.8	19.5	Neutral
SARC	Sarcoma	255	0.17	0.00647	33.7	43.1	23.1	Loss
SKCM	Skin Cutaneous Melanoma	367	-0.042	0.418	24	61.3	14.7	Neutral
STAD	Stomach adenocarcinoma	413	0.232	1.96e-06	13.6	74.8	11.6	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.135	0.0992	19.3	64.7	16	Neutral
THCA	Thyroid carcinoma	497	0.018	0.693	0.8	97.6	1.6	Neutral
THYM	Thymoma	119	-0.104	0.259	5	94.1	0.8	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.107	0.0129	11.7	72.3	16	Neutral

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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

[ TOP ]

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
BLCA	Bladder urothelial carcinoma	-0.148	0.00217	17	408	-0.047	0.0262	NS/NA
BRCA	Breast invasive carcinoma	-0.154	5.3e-06	83	785	0.027	0.446	NS/NA
CESC	Cervical and endocervical cancers	-0.226	6.3e-05	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.367	2.15e-11	19	297	-0.001	0.584	NS/NA
ESCA	Esophageal carcinoma	-0.341	1.3e-06	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.002	0.99	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.196	4.3e-06	20	522	0.003	0.454	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.077	0.157	24	319	0.018	7.02e-09	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.004	0.943	23	275	0.016	0.0216	NS/NA
LAML	Acute Myeloid Leukemia	-0.066	0.394	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.072	0.0971	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.109	0.0268	41	373	0	0.263	NS/NA
LUAD	Lung adenocarcinoma	-0.067	0.143	21	456	0.014	0.516	NS/NA
LUSC	Lung squamous cell carcinoma	-0.162	0.00162	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.3	0.437	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.119	0.11	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.074	0.315	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.169	8.79e-05	35	498	-0.001	0.586	NS/NA
READ	Rectum adenocarcinoma	-0.239	0.0162	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.181	0.00324	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.255	2.11e-08	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.35	4.87e-12	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.193	0.0161	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	0.003	0.944	50	509	-0.003	0.576	NS/NA
THYM	Thymoma	0.005	0.958	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.173	0.000189	34	431	0.008	6.4e-05	NS/NA

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	3	High
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	3	High
Epididymis	3	High
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	3	High
Hippocampus	3	High
Kidney	3	High
Liver	3	High
Lung	3	High
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	3	High
Pancreas	3	High
Parathyroid gland	3	High
Placenta	3	High
Prostate	3	High
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	3	High
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	3	High
Soft tissue	2	Medium
Spleen	3	High
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.132	NS	24476821
BRCA	Breast invasive carcinoma	521	4.4e-05	Significant	23000897
COAD	Colon adenocarcinoma	149	0.0109	Significant	22810696
GBM	Glioblastoma multiforme	157	0.0047	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.000234	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.059	NS	26536169
LGG	Brain Lower Grade Glioma	513	0.000119	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0015	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.00592	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00893	Significant	21720365
PRAD	Prostate adenocarcinoma	333	3.4e-11	Significant	26544944
READ	Rectum adenocarcinoma	67	0.465	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.499	NS	26091043
STAD	Stomach adenocarcinoma	277	0.44	NS	25079317
THCA	Thyroid carcinoma	391	0.131	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.528	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.763	0.214	NS
BRCA	Breast invasive carcinoma	1079	1.552	0.056	NS
CESC	Cervical and endocervical cancers	291	1.254	0.508	NS
COAD	Colon adenocarcinoma	439	1.666	0.101	NS
ESCA	Esophageal carcinoma	184	1.971	0.0687	NS
GBM	Glioblastoma multiforme	158	1.059	0.826	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.064	0.76	NS
KIRC	Kidney renal clear cell carcinoma	531	0.953	0.832	NS
KIRP	Kidney renal papillary cell carcinoma	287	3.031	0.0163	Shorter
LAML	Acute Myeloid Leukemia	149	0.682	0.179	NS
LGG	Brain Lower Grade Glioma	511	1.185	0.516	NS
LIHC	Liver hepatocellular carcinoma	365	1.039	0.874	NS
LUAD	Lung adenocarcinoma	502	0.667	0.0552	NS
LUSC	Lung squamous cell carcinoma	494	0.744	0.123	NS
OV	Ovarian serous cystadenocarcinoma	303	1.294	0.221	NS
PAAD	Pancreatic adenocarcinoma	177	1.151	0.626	NS
PCPG	Pheochromocytoma and Paraganglioma	179	717942078.576	0.0588	NS
PRAD	Prostate adenocarcinoma	497	2.493	0.323	NS
READ	Rectum adenocarcinoma	159	0.763	0.685	NS
SARC	Sarcoma	259	1.66	0.0921	NS
SKCM	Skin Cutaneous Melanoma	459	0.784	0.205	NS
STAD	Stomach adenocarcinoma	388	0.644	0.0564	NS
TGCT	Testicular Germ Cell Tumors	134	0	0.335	NS
THCA	Thyroid carcinoma	500	1.843	0.612	NS
THYM	Thymoma	119	0.877	0.926	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.579	0.116	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.003	0.945	NS
BRCA	Breast invasive carcinoma	1071	-0.041	0.179	NS
CESC	Cervical and endocervical cancers	167	-0.003	0.973	NS
COAD	Colon adenocarcinoma	445	0.064	0.179	NS
ESCA	Esophageal carcinoma	162	0.098	0.213	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.017	0.718	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.091	0.0369	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.064	0.306	NS
LIHC	Liver hepatocellular carcinoma	347	0.064	0.231	NS
LUAD	Lung adenocarcinoma	507	-0.028	0.535	NS
LUSC	Lung squamous cell carcinoma	497	0.018	0.697	NS
OV	Ovarian serous cystadenocarcinoma	302	0.003	0.959	NS
PAAD	Pancreatic adenocarcinoma	176	-0.06	0.431	NS
READ	Rectum adenocarcinoma	156	0.042	0.601	NS
SKCM	Skin Cutaneous Melanoma	410	0.001	0.981	NS
STAD	Stomach adenocarcinoma	392	0.052	0.306	NS
TGCT	Testicular Germ Cell Tumors	81	-0.144	0.199	NS
THCA	Thyroid carcinoma	499	-0.035	0.429	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.001	0.99	NS

> Grade

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Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.045	0.456	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.134	0.00266	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.118	0.00681	Lower
LGG	Brain Lower Grade Glioma	514	0.005	0.907	NS
LIHC	Liver hepatocellular carcinoma	366	-0.019	0.716	NS
OV	Ovarian serous cystadenocarcinoma	296	0.039	0.506	NS
PAAD	Pancreatic adenocarcinoma	176	-0.021	0.787	NS
STAD	Stomach adenocarcinoma	406	-0.003	0.958	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.114	0.00821	Higher

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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 [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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 [ TOP ]
There is no record for TAF1.

Summary
Symbol	TAF1
Name	TATA-box binding protein associated factor 1
Aliases	TAFII250; DYT3/TAF1; BA2R; CCG1; CCGS; DYT3; TATA box binding protein (TBP)-associated factor, RNA polymeras ......
Location	Xq13.1
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 [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

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PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
24449214	T Acute Lymphoblastic Leukemia	partner	CAN	Fusion	The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL).
20181722	Prostate Carcinoma	partner	AR	coactivation	Because TAF1 is a coactivator of AR that binds and enhances AR transcriptional activity, its overexpression could be part of a compensatory mechanism adapted by cancer cells to overcome reduced levels of circulating androgens.