CR2Cancer

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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

[ TOP ]

Domain

PF00439 Bromodomain
PF02791 DDT domain
PF00628 PHD-finger
PF15612 WSTF
PF15613 Williams-Beuren syndrome DDT (WSD)

Function

Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.

Classification

Class	Modification	Substrate	Product	PubMed
Chromatin remodelling	#	#	#	18974875

> Gene Ontology [ TOP ]
Biological Process	GO:0001701 in utero embryonic development GO:0001890 placenta development GO:0001892 embryonic placenta development GO:0003002 regionalization GO:0006338 chromatin remodeling GO:0007389 pattern specification process GO:0007492 endoderm development GO:0009952 anterior/posterior pattern specification GO:0048568 embryonic organ development GO:0048608 reproductive structure development GO:0061458 reproductive system development GO:1990089 response to nerve growth factor GO:1990090 cellular response to nerve growth factor stimulus
Molecular Function	GO:0008094 DNA-dependent ATPase activity GO:0008134 transcription factor binding GO:0016887 ATPase activity GO:0042623 ATPase activity, coupled
Cellular Component	GO:0016589 NURF complex GO:0030425 dendrite GO:0031010 ISWI-type complex GO:0044297 cell body GO:0070603 SWI/SNF superfamily-type complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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) [ TOP ]

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

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM3521171	c.796C>T	p.R266C	Substitution - Missense	Skin
COSM5921095	c.7081C>T	p.P2361S	Substitution - Missense	Skin
COSM290727	c.8028T>C	p.A2676A	Substitution - coding silent	Large_intestine
COSM3820339	c.6194G>C	p.R2065T	Substitution - Missense	Breast
COSM5055716	c.5775G>A	p.P1925P	Substitution - coding silent	Stomach
COSM4397199	c.572A>T	p.E191V	Substitution - Missense	Skin
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4747396	c.2590delA	p.E867fs*16	Deletion - Frameshift	Breast
COSM5030827	c.934G>C	p.D312H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3672541	c.6649A>G	p.T2217A	Substitution - Missense	Prostate
COSM3521186	c.3642C>T	p.F1214F	Substitution - coding silent	Skin
COSM109685	c.3493C>T	p.R1165*	Substitution - Nonsense	Skin
COSM5030049	c.4294G>A	p.V1432I	Substitution - Missense	Bone
COSM5387103	c.2785G>A	p.V929M	Substitution - Missense	Skin
COSM5946843	c.3462T>C	p.S1154S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1660253	c.5709-8T>A	p.?	Unknown	Kidney
COSM1385417	c.2696A>C	p.E899A	Substitution - Missense	Large_intestine
COSM5750435	c.2881A>G	p.I961V	Substitution - Missense	Stomach
COSM707536	c.4159A>G	p.K1387E	Substitution - Missense	Lung
COSM5446011	c.8030_8031insCCCAGCCCC	p.P2684_P2685insAPP	Insertion - In frame	Thyroid
COSM1721156	c.6666_6668delCAC	p.T2227delT	Deletion - In frame	Breast
COSM4443912	c.1328C>T	p.T443I	Substitution - Missense	Large_intestine
COSM1479895	c.427_429delGAG	p.E148delE	Deletion - In frame	Bone
COSM3521204	c.5227T>C	p.F1743L	Substitution - Missense	Skin
COSM226347	c.8654_8655CC>TT	p.S2885>?	Complex	Skin
COSM2155385	c.7778G>A	p.R2593Q	Substitution - Missense	Central_nervous_system
COSM4130522	c.5831C>G	p.S1944C	Substitution - Missense	Thyroid
COSM3795981	c.2424C>G	p.I808M	Substitution - Missense	Urinary_tract
COSM328410	c.3936T>C	p.N1312N	Substitution - coding silent	Pancreas
COSM983323	c.3884C>T	p.T1295I	Substitution - Missense	Endometrium
COSM4068938	c.7571A>G	p.E2524G	Substitution - Missense	Stomach
COSM4952633	c.2009C>T	p.A670V	Substitution - Missense	Liver
COSM2797894	c.8174A>G	p.K2725R	Substitution - Missense	Oesophagus
COSM3717555	c.8022A>T	p.T2674T	Substitution - coding silent	Liver
COSM3820331	c.4442C>G	p.S1481C	Substitution - Missense	Breast
COSM5447237	c.8634T>C	p.R2878R	Substitution - coding silent	Large_intestine
COSM3717549	c.2910T>C	p.D970D	Substitution - coding silent	Liver
COSM5458643	c.3495A>T	p.R1165R	Substitution - coding silent	Large_intestine
COSM473251	c.8416G>C	p.D2806H	Substitution - Missense	Kidney
COSM983309	c.2648A>C	p.K883T	Substitution - Missense	Endometrium
COSM1479895	c.427_429delGAG	p.E148delE	Deletion - In frame	Breast
COSM5669053	c.2779A>G	p.T927A	Substitution - Missense	Soft_tissue
COSM3970253	c.2552G>A	p.R851Q	Substitution - Missense	Oesophagus
COSM6003117	c.5537G>T	p.G1846V	Substitution - Missense	Prostate
COSM2797763	c.4245A>C	p.K1415N	Substitution - Missense	Large_intestine
COSM4130520	c.5830T>A	p.S1944T	Substitution - Missense	Thyroid
COSM983335	c.5437G>A	p.E1813K	Substitution - Missense	Pancreas
COSM3521216	c.7127C>T	p.P2376L	Substitution - Missense	Skin
COSM1246196	c.1264_1266delGAG	p.E423delE	Deletion - In frame	Stomach
COSM1610663	c.5429-10A>G	p.?	Unknown	Liver
COSM1385433	c.4188A>T	p.E1396D	Substitution - Missense	Large_intestine
COSM3421811	c.1526A>C	p.K509T	Substitution - Missense	Large_intestine
COSM417389	c.3526G>A	p.E1176K	Substitution - Missense	Urinary_tract
COSM4444609	c.3959G>T	p.R1320I	Substitution - Missense	Large_intestine
COSM1740324	c.7151A>G	p.Q2384R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1246200	c.3702A>C	p.K1234N	Substitution - Missense	Oesophagus
COSM1735109	c.7042delC	p.Q2348fs*63	Deletion - Frameshift	Pancreas
COSM1189547	c.3785A>G	p.N1262S	Substitution - Missense	Lung
COSM3712557	c.5388G>T	p.M1796I	Substitution - Missense	Upper_aerodigestive_tract
COSM4952633	c.2009C>T	p.A670V	Substitution - Missense	Liver
COSM3717551	c.5291G>A	p.G1764D	Substitution - Missense	Liver
COSM3521222	c.8099C>T	p.S2700F	Substitution - Missense	Skin
COSM707528	c.5861T>G	p.I1954R	Substitution - Missense	Lung
COSM983313	c.2867G>A	p.R956Q	Substitution - Missense	Endometrium
COSM1283676	c.394_396delGAG	p.E138delE	Deletion - In frame	Autonomic_ganglia
COSM983358	c.8152G>T	p.D2718Y	Substitution - Missense	Endometrium
COSM1710677	c.3101C>T	p.S1034F	Substitution - Missense	Skin
COSM5514008	c.8029_8030insCCTCCAGCC	p.P2677_P2678insSSP	Insertion - In frame	Biliary_tract
COSM983283	c.1161A>C	p.I387I	Substitution - coding silent	Endometrium
COSM983349	c.7422A>C	p.Q2474H	Substitution - Missense	Endometrium
COSM5741104	c.850G>A	p.A284T	Substitution - Missense	Small_intestine
COSM5761578	c.3121G>A	p.V1041I	Substitution - Missense	Pancreas
COSM707530	c.5594G>T	p.S1865I	Substitution - Missense	Lung
COSM4068905	c.1484G>C	p.S495T	Substitution - Missense	Stomach
COSM1184857	c.6172C>T	p.R2058C	Substitution - Missense	Large_intestine
COSM1385421	c.2874delA	p.I961fs*1	Deletion - Frameshift	Large_intestine
COSM5663693	c.5968A>G	p.T1990A	Substitution - Missense	Soft_tissue
COSM5706504	c.5184A>T	p.L1728F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM707538	c.3828A>T	p.E1276D	Substitution - Missense	Lung
COSM4068937	c.7371G>T	p.Q2457H	Substitution - Missense	Stomach
COSM3521210	c.5425A>T	p.T1809S	Substitution - Missense	Skin
COSM1610665	c.5848A>G	p.M1950V	Substitution - Missense	Liver
COSM4922879	c.2205T>G	p.A735A	Substitution - coding silent	Liver
COSM5781629	c.6488A>G	p.Q2163R	Substitution - Missense	Breast
COSM983277	c.1012A>T	p.K338*	Substitution - Nonsense	Endometrium
COSM3820329	c.4221A>G	p.I1407M	Substitution - Missense	Breast
COSM1721156	c.6666_6668delCAC	p.T2227delT	Deletion - In frame	Skin
COSM3403143	c.2142T>C	p.F714F	Substitution - coding silent	Central_nervous_system
COSM5559041	c.6764T>G	p.L2255R	Substitution - Missense	Prostate
COSM3521227	c.8669G>T	p.C2890F	Substitution - Missense	Skin
COSM2797788	c.5053C>T	p.R1685*	Substitution - Nonsense	Large_intestine
COSM1610671	c.8235C>T	p.I2745I	Substitution - coding silent	Liver
COSM6016788	c.5929A>G	p.T1977A	Substitution - Missense	Skin
COSM69843	c.3750G>T	p.K1250N	Substitution - Missense	Ovary
COSM5516777	c.1958delG	p.R653fs*12	Deletion - Frameshift	Biliary_tract
COSM6008295	c.4005G>C	p.E1335D	Substitution - Missense	Prostate
COSM3664798	c.7926+9G>A	p.?	Unknown	Breast
COSM5755114	c.3737T>C	p.V1246A	Substitution - Missense	Large_intestine
COSM437202	c.5514C>G	p.I1838M	Substitution - Missense	Breast
COSM359128	c.6321C>T	p.S2107S	Substitution - coding silent	Large_intestine
COSM2797790	c.5107A>G	p.T1703A	Substitution - Missense	Large_intestine
COSM6008297	c.6889C>G	p.P2297A	Substitution - Missense	Prostate
COSM4498803	c.4907C>T	p.S1636F	Substitution - Missense	Skin
COSM1684930	c.8053C>G	p.P2685A	Substitution - Missense	Lung
COSM4068927	c.5474G>T	p.R1825I	Substitution - Missense	Stomach
COSM304429	c.1281C>G	p.D427E	Substitution - Missense	Large_intestine
COSM983327	c.4388G>T	p.R1463M	Substitution - Missense	Endometrium
COSM4068917	c.2802G>A	p.S934S	Substitution - coding silent	Stomach
COSM5789867	c.1611G>A	p.L537L	Substitution - coding silent	Breast
COSM3521179	c.2501T>C	p.V834A	Substitution - Missense	Skin
COSM3362309	c.7363C>T	p.Q2455*	Substitution - Nonsense	Kidney
COSM1610661	c.5288T>G	p.F1763C	Substitution - Missense	Liver
COSM3521173	c.853G>A	p.E285K	Substitution - Missense	Skin
COSM5797461	c.6700+5A>T	p.?	Unknown	Breast
COSM6002857	c.4004A>G	p.E1335G	Substitution - Missense	Prostate
COSM5972364	c.6946A>G	p.T2316A	Substitution - Missense	Upper_aerodigestive_tract
COSM4979467	c.1045G>C	p.A349P	Substitution - Missense	Oesophagus
COSM5479540	c.4444G>A	p.E1482K	Substitution - Missense	Large_intestine
COSM983342	c.6702T>C	p.G2234G	Substitution - coding silent	Endometrium
COSM3521208	c.5328C>T	p.S1776S	Substitution - coding silent	Skin
COSM2797715	c.2930C>T	p.A977V	Substitution - Missense	Oesophagus
COSM983289	c.1724delA	p.T576fs*47	Deletion - Frameshift	Endometrium
COSM5569690	c.8400G>A	p.T2800T	Substitution - coding silent	Prostate
COSM983319	c.3430G>T	p.D1144Y	Substitution - Missense	Endometrium
COSM259658	c.2455G>T	p.E819*	Substitution - Nonsense	Large_intestine
COSM4665988	c.671T>C	p.I224T	Substitution - Missense	Large_intestine
COSM2797727	c.3327G>A	p.T1109T	Substitution - coding silent	Large_intestine
COSM4151717	c.2299G>C	p.G767R	Substitution - Missense	Kidney
COSM5013221	c.5756G>T	p.R1919L	Substitution - Missense	Kidney
COSM5516779	c.6187G>A	p.V2063M	Substitution - Missense	Biliary_tract
COSM4665986	c.597C>A	p.T199T	Substitution - coding silent	Large_intestine
COSM1303243	c.6738G>A	p.Q2246Q	Substitution - coding silent	Urinary_tract
COSM5921093	c.6569C>T	p.P2190L	Substitution - Missense	Skin
COSM1710673	c.977G>A	p.W326*	Substitution - Nonsense	Skin
COSM4068933	c.5878A>T	p.T1960S	Substitution - Missense	Stomach
COSM6003117	c.5537G>T	p.G1846V	Substitution - Missense	Prostate
COSM5055712	c.2160G>A	p.G720G	Substitution - coding silent	Stomach
COSM3787409	c.8762A>C	p.*2921S	Nonstop extension	Pancreas
COSM3989262	c.8444G>T	p.R2815L	Substitution - Missense	Kidney
COSM2797729	c.3540G>A	p.P1180P	Substitution - coding silent	Large_intestine
COSM983346	c.7016C>T	p.S2339F	Substitution - Missense	Endometrium
COSM4402759	c.2817A>G	p.K939K	Substitution - coding silent	Skin
COSM4432341	c.5224T>G	p.Y1742D	Substitution - Missense	Oesophagus
COSM5967665	c.5854G>T	p.A1952S	Substitution - Missense	Upper_aerodigestive_tract
COSM1735105	c.3979G>A	p.E1327K	Substitution - Missense	Pancreas
COSM4957381	c.643C>G	p.R215G	Substitution - Missense	Liver
COSM253678	c.6673A>C	p.T2225P	Substitution - Missense	Urinary_tract
COSM2797922	c.8592G>T	p.T2864T	Substitution - coding silent	Large_intestine
COSM3970253	c.2552G>A	p.R851Q	Substitution - Missense	Central_nervous_system
COSM4507473	c.7094C>T	p.S2365F	Substitution - Missense	Skin
COSM3521202	c.5225A>T	p.Y1742F	Substitution - Missense	Skin
COSM4068929	c.5621C>T	p.T1874M	Substitution - Missense	Stomach
COSM3521192	c.4241C>T	p.P1414L	Substitution - Missense	Skin
COSM4876854	c.3564C>T	p.D1188D	Substitution - coding silent	Prostate
COSM127445	c.1746G>A	p.E582E	Substitution - coding silent	Upper_aerodigestive_tract
COSM4938628	c.7289C>T	p.P2430L	Substitution - Missense	Liver
COSM1710673	c.977G>A	p.W326*	Substitution - Nonsense	Skin
COSM5766987	c.6474C>T	p.G2158G	Substitution - coding silent	Breast
COSM1680031	c.3096G>T	p.E1032D	Substitution - Missense	Prostate
COSM5645654	c.4525G>C	p.E1509Q	Substitution - Missense	Oesophagus
COSM5812822	c.3347A>T	p.Q1116L	Substitution - Missense	Liver
COSM5894632	c.7508G>T	p.R2503M	Substitution - Missense	Skin
COSM5387101	c.643C>T	p.R215C	Substitution - Missense	Skin
COSM1184853	c.4095G>T	p.K1365N	Substitution - Missense	Large_intestine
COSM5967667	c.5871A>G	p.S1957S	Substitution - coding silent	Upper_aerodigestive_tract
COSM97100	c.5733_5734AG>CC	p.V1912L	Substitution - Missense	Ovary
COSM5668779	c.7288C>G	p.P2430A	Substitution - Missense	Soft_tissue
COSM4550181	c.4570G>A	p.E1524K	Substitution - Missense	Skin
COSM3720981	c.4194A>G	p.K1398K	Substitution - coding silent	Upper_aerodigestive_tract
COSM5556790	c.2538T>C	p.H846H	Substitution - coding silent	Prostate
COSM1610659	c.3062A>G	p.D1021G	Substitution - Missense	Liver
COSM3795988	c.6131G>A	p.G2044E	Substitution - Missense	Urinary_tract
COSM3820339	c.6194G>C	p.R2065T	Substitution - Missense	Stomach
COSM4068909	c.2048G>A	p.G683D	Substitution - Missense	Stomach
COSM983311	c.2765A>G	p.K922R	Substitution - Missense	Endometrium
COSM983339	c.6046A>G	p.T2016A	Substitution - Missense	Endometrium
COSM983305	c.2427G>T	p.K809N	Substitution - Missense	Endometrium
COSM3937518	c.5870C>T	p.S1957L	Substitution - Missense	Oesophagus
COSM265522	c.8208T>G	p.T2736T	Substitution - coding silent	Large_intestine
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM4629370	c.3422C>T	p.S1141L	Substitution - Missense	Large_intestine
COSM4068901	c.797G>A	p.R266H	Substitution - Missense	Stomach
COSM983275	c.738C>T	p.V246V	Substitution - coding silent	Endometrium
COSM6008295	c.4005G>C	p.E1335D	Substitution - Missense	Prostate
COSM5718761	c.3304C>T	p.L1102F	Substitution - Missense	Skin
COSM5706502	c.4778C>T	p.S1593F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM983364	c.8679T>C	p.V2893V	Substitution - coding silent	Endometrium
COSM4665990	c.1233A>G	p.V411V	Substitution - coding silent	Large_intestine
COSM356855	c.5295C>T	p.I1765I	Substitution - coding silent	Lung
COSM4487111	c.2762C>T	p.P921L	Substitution - Missense	Skin
COSM3958676	c.4506G>A	p.E1502E	Substitution - coding silent	Lung
COSM1680029	c.3069A>C	p.K1023N	Substitution - Missense	Large_intestine
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM4504620	c.6326C>T	p.P2109L	Substitution - Missense	Skin
COSM359126	c.3687G>T	p.L1229F	Substitution - Missense	Lung
COSM4899591	c.3066G>A	p.M1022I	Substitution - Missense	Skin
COSM707540	c.2753G>T	p.R918M	Substitution - Missense	Lung
COSM983297	c.2102A>C	p.K701T	Substitution - Missense	Endometrium
COSM460255	c.6769C>T	p.P2257S	Substitution - Missense	Cervix
COSM4614466	c.2873_2874insA	p.I961fs*6	Insertion - Frameshift	Large_intestine
COSM5578130	c.5863A>G	p.S1955G	Substitution - Missense	Skin
COSM4398840	c.6230T>G	p.I2077S	Substitution - Missense	Skin
COSM1710675	c.1348C>T	p.Q450*	Substitution - Nonsense	Skin
COSM2797886	c.8060C>A	p.P2687H	Substitution - Missense	Large_intestine
COSM5926951	c.5221C>T	p.P1741S	Substitution - Missense	Skin
COSM1680033	c.6368C>T	p.S2123L	Substitution - Missense	Lung
COSM4746026	c.3128A>T	p.E1043V	Substitution - Missense	Central_nervous_system
COSM4882048	c.8329G>T	p.E2777*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM6003117	c.5537G>T	p.G1846V	Substitution - Missense	Prostate
COSM111424	c.3943delA	p.I1315fs*18	Deletion - Frameshift	Ovary
COSM1636914	c.5953C>G	p.H1985D	Substitution - Missense	Bone
COSM983273	c.643C>A	p.R215S	Substitution - Missense	Endometrium
COSM1184849	c.1627G>A	p.G543S	Substitution - Missense	Large_intestine
COSM1184855	c.2966C>G	p.S989*	Substitution - Nonsense	Large_intestine
COSM1303239	c.2378C>T	p.S793L	Substitution - Missense	Cervix
COSM983287	c.1513G>A	p.D505N	Substitution - Missense	Endometrium
COSM6008297	c.6889C>G	p.P2297A	Substitution - Missense	Prostate
COSM5951719	c.6587T>C	p.L2196P	Substitution - Missense	Oesophagus
COSM2797922	c.8592G>T	p.T2864T	Substitution - coding silent	Large_intestine
COSM4068907	c.2032A>G	p.K678E	Substitution - Missense	Stomach
COSM983281	c.1095G>T	p.Q365H	Substitution - Missense	Endometrium
COSM1735107	c.5759_5760delTG	p.L1920fs*49	Deletion - Frameshift	Pancreas
COSM385663	c.3568G>C	p.E1190Q	Substitution - Missense	Lung
COSM4849250	c.542A>G	p.D181G	Substitution - Missense	Cervix
COSM4068911	c.2169C>T	p.R723R	Substitution - coding silent	Stomach
COSM4895556	c.2493T>C	p.V831V	Substitution - coding silent	Skin
COSM5596359	c.4184C>T	p.S1395F	Substitution - Missense	Skin
COSM1303237	c.1747A>G	p.T583A	Substitution - Missense	Urinary_tract
COSM1184851	c.7905G>T	p.K2635N	Substitution - Missense	Large_intestine
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM5782034	c.5941A>C	p.N1981H	Substitution - Missense	Breast
COSM4960907	c.5389G>A	p.A1797T	Substitution - Missense	Liver
COSM4889506	c.660A>G	p.E220E	Substitution - coding silent	Upper_aerodigestive_tract
COSM4768878	c.4284G>C	p.E1428D	Substitution - Missense	Biliary_tract
COSM5684084	c.6316G>T	p.V2106F	Substitution - Missense	Soft_tissue
COSM4959679	c.6984G>A	p.Q2328Q	Substitution - coding silent	Liver
COSM3521188	c.3666T>G	p.S1222R	Substitution - Missense	Skin
COSM4780584	c.5491G>T	p.G1831C	Substitution - Missense	Liver
COSM1189545	c.644G>A	p.R215H	Substitution - Missense	Lung
COSM3521206	c.5314C>T	p.Q1772*	Substitution - Nonsense	Skin
COSM306817	c.2034_2041ATTATTTA>12	p.K678fs	Complex	Central_nervous_system
COSM1283673	c.678C>G	p.P226P	Substitution - coding silent	Autonomic_ganglia
COSM4938146	c.2960A>G	p.D987G	Substitution - Missense	Liver
COSM4068923	c.4574G>T	p.S1525I	Substitution - Missense	Stomach
COSM1195129	c.5785G>A	p.A1929T	Substitution - Missense	Lung
COSM5771699	c.7401C>G	p.I2467M	Substitution - Missense	Breast
COSM3717549	c.2910T>C	p.D970D	Substitution - coding silent	Liver
COSM983333	c.5316G>C	p.Q1772H	Substitution - Missense	Endometrium
COSM5028355	c.2080G>C	p.E694Q	Substitution - Missense	Breast
COSM5718761	c.3304C>T	p.L1102F	Substitution - Missense	Skin
COSM5952932	c.1892A>G	p.N631S	Substitution - Missense	Oesophagus
COSM4771210	c.3296C>T	p.S1099L	Substitution - Missense	Pleura
COSM983317	c.3293C>A	p.S1098Y	Substitution - Missense	Endometrium
COSM3521220	c.8029C>T	p.P2677S	Substitution - Missense	Skin
COSM5387108	c.7906G>A	p.D2636N	Substitution - Missense	Skin
COSM983293	c.2014G>A	p.A672T	Substitution - Missense	Endometrium
COSM1750252	c.8674G>C	p.E2892Q	Substitution - Missense	Urinary_tract
COSM6016786	c.442G>A	p.E148K	Substitution - Missense	Skin
COSM983352	c.7777C>T	p.R2593W	Substitution - Missense	Endometrium
COSM5903931	c.7067C>T	p.P2356L	Substitution - Missense	Skin
COSM274154	c.5498G>A	p.R1833Q	Substitution - Missense	Large_intestine
COSM109685	c.3493C>T	p.R1165*	Substitution - Nonsense	Skin
COSM5900337	c.2830G>A	p.E944K	Substitution - Missense	Skin
COSM983321	c.3645C>T	p.I1215I	Substitution - coding silent	Endometrium
COSM4186237	c.5347A>T	p.M1783L	Substitution - Missense	Kidney
COSM3421816	c.5601G>A	p.L1867L	Substitution - coding silent	Large_intestine
COSM3521218	c.7820A>G	p.N2607S	Substitution - Missense	Skin
COSM3378295	c.1184T>C	p.V395A	Substitution - Missense	Pancreas
COSM4960371	c.2150G>A	p.G717D	Substitution - Missense	Liver
COSM1324882	c.7318C>A	p.Q2440K	Substitution - Missense	Ovary
COSM1680023	c.1105G>A	p.D369N	Substitution - Missense	Kidney
COSM215705	c.2041_2042insTTTA	p.K681fs*2	Insertion - Frameshift	Central_nervous_system
COSM243220	c.753G>A	p.E251E	Substitution - coding silent	Prostate
COSM1610667	c.6530G>C	p.G2177A	Substitution - Missense	Liver
COSM4793036	c.5553A>G	p.P1851P	Substitution - coding silent	Liver
COSM1630355	c.2737A>C	p.K913Q	Substitution - Missense	Liver
COSM983325	c.4108A>G	p.R1370G	Substitution - Missense	Endometrium
COSM3820324	c.751G>A	p.E251K	Substitution - Missense	Breast
COSM1735103	c.2590_2591insA	p.E867fs*23	Insertion - Frameshift	Pancreas
COSM6002857	c.4004A>G	p.E1335G	Substitution - Missense	Prostate
COSM2797848	c.7024C>T	p.R2342C	Substitution - Missense	Large_intestine
COSM3370869	c.3817A>G	p.M1273V	Substitution - Missense	Thyroid
COSM4842373	c.3505G>A	p.D1169N	Substitution - Missense	Cervix
COSM1610671	c.8235C>T	p.I2745I	Substitution - coding silent	Liver
COSM2797788	c.5053C>T	p.R1685*	Substitution - Nonsense	Large_intestine
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM1385423	c.2969A>C	p.K990T	Substitution - Missense	Large_intestine
COSM3388107	c.5110G>A	p.A1704T	Substitution - Missense	Pancreas
COSM4855960	c.4943C>G	p.S1648C	Substitution - Missense	Cervix
COSM5023971	c.3539C>T	p.P1180L	Substitution - Missense	Bone
COSM3521183	c.2578A>G	p.K860E	Substitution - Missense	Skin
COSM1610659	c.3062A>G	p.D1021G	Substitution - Missense	Liver
COSM4068925	c.5216A>G	p.E1739G	Substitution - Missense	Stomach
COSM1680025	c.2939G>A	p.G980E	Substitution - Missense	Large_intestine
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM437200	c.5401C>A	p.P1801T	Substitution - Missense	Breast
COSM2797780	c.5004G>A	p.T1668T	Substitution - coding silent	Large_intestine
COSM983350	c.7579C>A	p.L2527I	Substitution - Missense	Endometrium
COSM4756664	c.4976C>T	p.T1659M	Substitution - Missense	Stomach
COSM5686533	c.6423A>G	p.Q2141Q	Substitution - coding silent	Soft_tissue
COSM4606922	c.2230G>C	p.D744H	Substitution - Missense	Adrenal_gland
COSM4756660	c.2377T>C	p.S793P	Substitution - Missense	Stomach
COSM5808398	c.2348C>T	p.T783I	Substitution - Missense	Liver
COSM1680033	c.6368C>T	p.S2123L	Substitution - Missense	Breast
COSM3521190	c.3764C>T	p.S1255L	Substitution - Missense	Skin
COSM270899	c.2744A>T	p.H915L	Substitution - Missense	Large_intestine
COSM1184857	c.6172C>T	p.R2058C	Substitution - Missense	Skin
COSM5015519	c.5930C>T	p.T1977I	Substitution - Missense	Kidney
COSM386838	c.8633G>T	p.R2878L	Substitution - Missense	Endometrium
COSM4557665	c.7010G>C	p.G2337A	Substitution - Missense	Skin
COSM4441457	c.2524G>A	p.E842K	Substitution - Missense	Large_intestine
COSM3521200	c.5184A>G	p.L1728L	Substitution - coding silent	Skin
COSM2797788	c.5053C>T	p.R1685*	Substitution - Nonsense	Biliary_tract
COSM5475960	c.3057C>T	p.D1019D	Substitution - coding silent	Large_intestine
COSM5777702	c.3857A>G	p.N1286S	Substitution - Missense	Breast
COSM1470961	c.7178C>T	p.S2393L	Substitution - Missense	Prostate
COSM5893907	c.3049G>A	p.E1017K	Substitution - Missense	Skin
COSM3749412	c.3646G>A	p.D1216N	Substitution - Missense	Large_intestine
COSM3403141	c.2003A>T	p.Q668L	Substitution - Missense	Central_nervous_system
COSM1710679	c.6637C>T	p.P2213S	Substitution - Missense	Skin
COSM238978	c.7776_7777insA	p.R2593fs*4	Insertion - Frameshift	Prostate
COSM4430428	c.4897A>C	p.T1633P	Substitution - Missense	Oesophagus
COSM2797719	c.3058G>A	p.D1020N	Substitution - Missense	Large_intestine
COSM5445905	c.8052_8053insGCCCCTCCA	p.P2684_P2685insAPP	Insertion - In frame	Thyroid
COSM3937515	c.4081C>T	p.P1361S	Substitution - Missense	Oesophagus
COSM69842	c.2758G>C	p.V920L	Substitution - Missense	Ovary
COSM4068913	c.2634A>G	p.Q878Q	Substitution - coding silent	Stomach
COSM5024911	c.6461A>T	p.Q2154L	Substitution - Missense	Breast
COSM1610661	c.5288T>G	p.F1763C	Substitution - Missense	Liver
COSM473253	c.8520T>A	p.G2840G	Substitution - coding silent	Kidney
COSM2797644	c.905A>G	p.N302S	Substitution - Missense	Lung
COSM4068919	c.2820T>C	p.N940N	Substitution - coding silent	Stomach
COSM707546	c.1765G>C	p.D589H	Substitution - Missense	Lung
COSM5618781	c.5385T>C	p.D1795D	Substitution - coding silent	Breast
COSM5023971	c.3539C>T	p.P1180L	Substitution - Missense	Bone
COSM1710679	c.6637C>T	p.P2213S	Substitution - Missense	Skin
COSM4068941	c.8444G>A	p.R2815H	Substitution - Missense	Stomach
COSM3732281	c.8056T>C	p.S2686P	Substitution - Missense	Stomach
COSM331021	c.849G>T	p.M283I	Substitution - Missense	Lung
COSM983337	c.5471G>T	p.R1824M	Substitution - Missense	Endometrium
COSM3403145	c.5937A>G	p.Q1979Q	Substitution - coding silent	Central_nervous_system
COSM983356	c.7953T>G	p.I2651M	Substitution - Missense	Endometrium
COSM1610659	c.3062A>G	p.D1021G	Substitution - Missense	Liver
COSM5002878	c.543C>A	p.D181E	Substitution - Missense	Pancreas
COSM4648070	c.6918A>G	p.S2306S	Substitution - coding silent	Large_intestine
COSM5718761	c.3304C>T	p.L1102F	Substitution - Missense	Skin
COSM193900	c.7054C>T	p.R2352C	Substitution - Missense	Large_intestine
COSM1710681	c.7676C>T	p.P2559L	Substitution - Missense	Skin
COSM3820327	c.2908G>C	p.D970H	Substitution - Missense	Breast
COSM4130524	c.5832T>A	p.S1944S	Substitution - coding silent	Thyroid
COSM5960157	c.5716delA	p.E1907fs*21	Deletion - Frameshift	Thyroid
COSM5813680	c.4890A>T	p.T1630T	Substitution - coding silent	Liver
COSM1385440	c.8583A>G	p.E2861E	Substitution - coding silent	Large_intestine
COSM983315	c.2895T>G	p.P965P	Substitution - coding silent	Endometrium
COSM5555052	c.7167C>T	p.G2389G	Substitution - coding silent	Prostate
COSM437204	c.6000C>T	p.G2000G	Substitution - coding silent	Breast
COSM5438925	c.1317G>A	p.V439V	Substitution - coding silent	Oesophagus
COSM707550	c.1090C>T	p.L364L	Substitution - coding silent	Lung
COSM1680025	c.2939G>A	p.G980E	Substitution - Missense	Large_intestine
COSM5387106	c.7903delA	p.K2635fs*11	Deletion - Frameshift	Skin
COSM4840109	c.3913G>T	p.D1305Y	Substitution - Missense	Cervix
COSM1283675	c.7568G>A	p.R2523H	Substitution - Missense	Large_intestine
COSM2797805	c.5535T>C	p.I1845I	Substitution - coding silent	Large_intestine
COSM707548	c.1407A>T	p.K469N	Substitution - Missense	Lung
COSM983362	c.8603C>T	p.A2868V	Substitution - Missense	Endometrium
COSM4793036	c.5553A>G	p.P1851P	Substitution - coding silent	Liver
COSM339658	c.7471A>T	p.T2491S	Substitution - Missense	Lung
COSM386838	c.8633G>T	p.R2878L	Substitution - Missense	Lung
COSM4665994	c.1615A>G	p.N539D	Substitution - Missense	Large_intestine
COSM5789867	c.1611G>A	p.L537L	Substitution - coding silent	Breast
COSM3742402	c.8594A>C	p.E2865A	Substitution - Missense	Liver
COSM3820335	c.4868C>G	p.S1623C	Substitution - Missense	Breast
COSM4957381	c.643C>G	p.R215G	Substitution - Missense	Liver
COSM1283676	c.394_396delGAG	p.E138delE	Deletion - In frame	Bone
COSM437204	c.6000C>T	p.G2000G	Substitution - coding silent	Lung
COSM306817	c.2034_2041ATTATTTA>12	p.K678fs	Complex	Central_nervous_system
COSM1316460	c.7800G>C	p.E2600D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4599492	c.2692G>C	p.E898Q	Substitution - Missense	Upper_aerodigestive_tract
COSM2797827	c.6173G>A	p.R2058H	Substitution - Missense	Stomach
COSM228670	c.5170C>T	p.P1724S	Substitution - Missense	Skin
COSM1728268	c.4439G>T	p.S1480I	Substitution - Missense	Liver
COSM341759	c.3582T>G	p.S1194S	Substitution - coding silent	Lung
COSM1303241	c.3091C>A	p.Q1031K	Substitution - Missense	Urinary_tract
COSM5619374	c.5694G>A	p.R1898R	Substitution - coding silent	Breast
COSM1179447	c.8599G>A	p.V2867M	Substitution - Missense	Prostate
COSM359128	c.6321C>T	p.S2107S	Substitution - coding silent	Lung
COSM707532	c.5576G>T	p.R1859M	Substitution - Missense	Lung
COSM5630306	c.4484G>T	p.G1495V	Substitution - Missense	Oesophagus
COSM6003117	c.5537G>T	p.G1846V	Substitution - Missense	Prostate
COSM3521177	c.2308C>T	p.H770Y	Substitution - Missense	Skin
COSM5638922	c.4914C>T	p.P1638P	Substitution - coding silent	Oesophagus
COSM1728803	c.3514A>G	p.I1172V	Substitution - Missense	Liver
COSM5055718	c.6643G>A	p.A2215T	Substitution - Missense	Stomach
COSM3521196	c.4943C>T	p.S1648F	Substitution - Missense	Skin
COSM4846438	c.883C>G	p.L295V	Substitution - Missense	Cervix
COSM3717553	c.6798A>G	p.A2266A	Substitution - coding silent	Liver
COSM5815905	c.6532C>T	p.Q2178*	Substitution - Nonsense	Liver
COSM1283675	c.7568G>A	p.R2523H	Substitution - Missense	Autonomic_ganglia
COSM5432597	c.2689G>A	p.G897S	Substitution - Missense	Oesophagus
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM3820337	c.5404C>T	p.P1802S	Substitution - Missense	Breast
COSM1479899	c.6087G>T	p.R2029S	Substitution - Missense	Breast
COSM3370871	c.6892G>T	p.E2298*	Substitution - Nonsense	Thyroid
COSM5706500	c.3842G>A	p.C1281Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1640781	c.1856A>T	p.K619I	Substitution - Missense	Stomach
COSM983285	c.1209T>C	p.L403L	Substitution - coding silent	Endometrium
COSM3378297	c.7330G>T	p.V2444F	Substitution - Missense	Pancreas
COSM4756669	c.7171C>T	p.P2391S	Substitution - Missense	Stomach
COSM460255	c.6769C>T	p.P2257S	Substitution - Missense	Soft_tissue
COSM4068921	c.4478C>T	p.A1493V	Substitution - Missense	Stomach
COSM3521214	c.6308C>T	p.S2103F	Substitution - Missense	Skin
COSM4778138	c.4867T>C	p.S1623P	Substitution - Missense	Prostate
COSM5347675	c.2870_2904del35	p.S957fs*3	Deletion - Frameshift	Liver
COSM5638924	c.5346G>A	p.L1782L	Substitution - coding silent	Oesophagus
COSM1385437	c.7491G>A	p.V2497V	Substitution - coding silent	Large_intestine
COSM4747396	c.2590delA	p.E867fs*16	Deletion - Frameshift	Stomach
COSM4960907	c.5389G>A	p.A1797T	Substitution - Missense	Liver
COSM1728803	c.3514A>G	p.I1172V	Substitution - Missense	Large_intestine
COSM5893907	c.3049G>A	p.E1017K	Substitution - Missense	Skin
COSM5965851	c.3856A>G	p.N1286D	Substitution - Missense	Breast
COSM3717557	c.8262-10G>T	p.?	Unknown	Liver
COSM5569690	c.8400G>A	p.T2800T	Substitution - coding silent	Prostate
COSM328412	c.4269G>A	p.L1423L	Substitution - coding silent	Pancreas
COSM473249	c.7975C>G	p.Q2659E	Substitution - Missense	Kidney
COSM4665996	c.2597A>G	p.K866R	Substitution - Missense	Large_intestine
COSM5692613	c.1441G>C	p.E481Q	Substitution - Missense	Soft_tissue
COSM5909554	c.5327C>T	p.S1776F	Substitution - Missense	Skin
COSM2797866	c.7770delA	p.K2592fs*36	Deletion - Frameshift	Large_intestine
COSM374254	c.4834A>G	p.T1612A	Substitution - Missense	Lung
COSM352026	c.6752A>G	p.Q2251R	Substitution - Missense	Lung
COSM3820333	c.4824C>A	p.G1608G	Substitution - coding silent	Breast
COSM4665992	c.1570C>T	p.R524C	Substitution - Missense	Large_intestine
COSM983354	c.7934T>C	p.L2645P	Substitution - Missense	Endometrium
COSM3521225	c.8654C>T	p.S2885F	Substitution - Missense	Skin
COSM253678	c.6673A>C	p.T2225P	Substitution - Missense	Urinary_tract
COSM3521194	c.4912C>T	p.P1638S	Substitution - Missense	Skin
COSM1731586	c.7014_7024del11	p.S2339fs*180	Deletion - Frameshift	Liver
COSM4837337	c.5375G>A	p.R1792K	Substitution - Missense	Cervix
COSM707542	c.2295G>T	p.W765C	Substitution - Missense	Lung
COSM3403139	c.1497A>G	p.Q499Q	Substitution - coding silent	Central_nervous_system
COSM983301	c.2234_2236delATG	p.D746delD	Deletion - In frame	Endometrium
COSM4437111	c.8233A>T	p.I2745F	Substitution - Missense	Oesophagus
COSM5594268	c.3170C>T	p.S1057L	Substitution - Missense	Skin
COSM1610665	c.5848A>G	p.M1950V	Substitution - Missense	Liver
COSM5779948	c.8282G>A	p.R2761Q	Substitution - Missense	Breast
COSM983299	c.2168G>C	p.R723P	Substitution - Missense	Endometrium
COSM1303245	c.7450C>T	p.H2484Y	Substitution - Missense	Urinary_tract
COSM4151719	c.6260-10G>C	p.?	Unknown	Kidney
COSM4835468	c.4690G>A	p.E1564K	Substitution - Missense	Cervix
COSM5454593	c.2464T>C	p.L822L	Substitution - coding silent	Large_intestine
COSM5636077	c.3931A>G	p.S1311G	Substitution - Missense	Oesophagus
COSM1610663	c.5429-10A>G	p.?	Unknown	Liver
COSM983295	c.2033A>C	p.K678T	Substitution - Missense	Endometrium
COSM4879803	c.4162A>G	p.K1388E	Substitution - Missense	Prostate
COSM344582	c.6199C>T	p.P2067S	Substitution - Missense	Lung
COSM1610669	c.7760A>T	p.K2587I	Substitution - Missense	Liver
COSM159404	c.6448G>C	p.A2150P	Substitution - Missense	Breast
COSM1385425	c.3159G>T	p.K1053N	Substitution - Missense	Large_intestine
COSM437198	c.5295C>A	p.I1765I	Substitution - coding silent	Breast
COSM1721156	c.6666_6668delCAC	p.T2227delT	Deletion - In frame	Skin
COSM5013223	c.8302G>A	p.G2768R	Substitution - Missense	Kidney
COSM5718761	c.3304C>T	p.L1102F	Substitution - Missense	Skin
COSM5701461	c.8053_8054insGCC	p.P2684_P2685insR	Insertion - In frame	Soft_tissue
COSM1494001	c.8691C>A	p.F2897L	Substitution - Missense	Kidney
COSM2797898	c.8209_8211delAAG	p.K2738delK	Deletion - In frame	Large_intestine
COSM4548228	c.4044G>A	p.R1348R	Substitution - coding silent	Skin
COSM1680029	c.3069A>C	p.K1023N	Substitution - Missense	Large_intestine
COSM707524	c.7933C>A	p.L2645M	Substitution - Missense	Lung
COSM4913881	c.512A>G	p.D171G	Substitution - Missense	Liver
COSM5672661	c.5710G>T	p.V1904L	Substitution - Missense	Soft_tissue
COSM5569690	c.8400G>A	p.T2800T	Substitution - coding silent	Prostate
COSM4849089	c.3170C>A	p.S1057*	Substitution - Nonsense	Cervix
COSM707534	c.5308A>G	p.R1770G	Substitution - Missense	Lung
COSM4960371	c.2150G>A	p.G717D	Substitution - Missense	Liver
COSM983279	c.1061A>T	p.Y354F	Substitution - Missense	Endometrium
COSM1385412	c.1376A>G	p.E459G	Substitution - Missense	Large_intestine
COSM259658	c.2455G>T	p.E819*	Substitution - Nonsense	Large_intestine
COSM4558519	c.7704G>A	p.M2568I	Substitution - Missense	Skin
COSM5972362	c.5368A>T	p.S1790C	Substitution - Missense	Upper_aerodigestive_tract
COSM3717555	c.8022A>T	p.T2674T	Substitution - coding silent	Liver
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Lung
COSM4747396	c.2590delA	p.E867fs*16	Deletion - Frameshift	Biliary_tract
COSM4771210	c.3296C>T	p.S1099L	Substitution - Missense	Skin
COSM5684625	c.910A>G	p.T304A	Substitution - Missense	Soft_tissue
COSM3370867	c.1756G>C	p.D586H	Substitution - Missense	Thyroid
COSM243222	c.5223T>A	p.P1741P	Substitution - coding silent	Prostate
COSM707544	c.2282G>A	p.G761E	Substitution - Missense	Lung
COSM1610667	c.6530G>C	p.G2177A	Substitution - Missense	Liver
COSM1494006	c.2341A>G	p.R781G	Substitution - Missense	Kidney
COSM3795986	c.4474G>A	p.D1492N	Substitution - Missense	Urinary_tract
COSM4932643	c.3751A>G	p.S1251G	Substitution - Missense	Liver
COSM1610669	c.7760A>T	p.K2587I	Substitution - Missense	Liver
COSM983331	c.5054G>A	p.R1685Q	Substitution - Missense	Endometrium
COSM3717557	c.8262-10G>T	p.?	Unknown	Liver
COSM135770	c.647C>T	p.S216F	Substitution - Missense	Skin
COSM1240901	c.5710G>A	p.V1904M	Substitution - Missense	Oesophagus
COSM1750252	c.8674G>C	p.E2892Q	Substitution - Missense	Urinary_tract
COSM4500169	c.5212C>T	p.R1738*	Substitution - Nonsense	Skin
COSM5653376	c.2883A>G	p.I961M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5445905	c.8052_8053insGCCCCTCCA	p.P2684_P2685insAPP	Insertion - In frame	Thyroid
COSM5558087	c.1352A>C	p.K451T	Substitution - Missense	Prostate
COSM983344	c.6722G>A	p.S2241N	Substitution - Missense	Endometrium
COSM5569690	c.8400G>A	p.T2800T	Substitution - coding silent	Prostate
COSM983335	c.5437G>A	p.E1813K	Substitution - Missense	Endometrium
COSM3521175	c.1804C>T	p.L602F	Substitution - Missense	Skin
COSM1494003	c.7953T>A	p.I2651I	Substitution - coding silent	Kidney
COSM5819272	c.874A>T	p.K292*	Substitution - Nonsense	Liver
COSM1385435	c.6156C>T	p.I2052I	Substitution - coding silent	Large_intestine
COSM5025065	c.1742_1743insA	p.N581fs*2	Insertion - Frameshift	Breast
COSM5972366	c.8056T>G	p.S2686A	Substitution - Missense	Upper_aerodigestive_tract
COSM5833371	c.8052_8053insGCC	p.P2684_P2685insA	Insertion - In frame	Breast
COSM3712557	c.5388G>T	p.M1796I	Substitution - Missense	Upper_aerodigestive_tract
COSM2797922	c.8592G>T	p.T2864T	Substitution - coding silent	Large_intestine
COSM3521198	c.5118A>G	p.P1706P	Substitution - coding silent	Skin
COSM4399459	c.2521C>T	p.R841*	Substitution - Nonsense	Skin
COSM5965419	c.7335C>G	p.L2445L	Substitution - coding silent	Breast
COSM4959679	c.6984G>A	p.Q2328Q	Substitution - coding silent	Liver
COSM1640781	c.1856A>T	p.K619I	Substitution - Missense	Stomach
COSM3795984	c.4180G>C	p.E1394Q	Substitution - Missense	Urinary_tract
COSM4068915	c.2637G>A	p.A879A	Substitution - coding silent	Stomach
COSM2797788	c.5053C>T	p.R1685*	Substitution - Nonsense	Biliary_tract
COSM3521212	c.5497C>T	p.R1833*	Substitution - Nonsense	Skin
COSM4506631	c.7253C>T	p.P2418L	Substitution - Missense	Skin
COSM4068931	c.5633C>A	p.T1878N	Substitution - Missense	Stomach
COSM3958678	c.5342G>A	p.S1781N	Substitution - Missense	Lung
COSM707552	c.427G>T	p.E143*	Substitution - Nonsense	Lung
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM983303	c.2311G>C	p.G771R	Substitution - Missense	Endometrium
COSM4842429	c.1940C>G	p.S647*	Substitution - Nonsense	Cervix
COSM3720979	c.3658C>T	p.L1220L	Substitution - coding silent	Upper_aerodigestive_tract
COSM243224	c.2441G>T	p.C814F	Substitution - Missense	Prostate
COSM166461	c.3983T>G	p.V1328G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1479897	c.810T>C	p.F270F	Substitution - coding silent	Breast
COSM4580012	c.8214G>A	p.K2738K	Substitution - coding silent	Bone
COSM3731812	c.8058A>C	p.S2686S	Substitution - coding silent	Stomach
COSM4499179	c.4991C>T	p.S1664F	Substitution - Missense	Skin
COSM3421814	c.2168G>A	p.R723H	Substitution - Missense	Large_intestine
COSM4949895	c.2867_2901del35	p.S957fs*3	Deletion - Frameshift	Liver
COSM473244	c.5128A>T	p.K1710*	Substitution - Nonsense	Kidney
COSM4935525	c.5714A>G	p.E1905G	Substitution - Missense	Liver
COSM4068903	c.863T>C	p.V288A	Substitution - Missense	Stomach
COSM370786	c.1822G>T	p.D608Y	Substitution - Missense	Lung
COSM1680027	c.3000G>T	p.K1000N	Substitution - Missense	Ovary
COSM4068939	c.7898T>C	p.L2633P	Substitution - Missense	Stomach
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM1324883	c.6856C>G	p.Q2286E	Substitution - Missense	Ovary
COSM3717551	c.5291G>A	p.G1764D	Substitution - Missense	Liver
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM108753	c.3159G>A	p.K1053K	Substitution - coding silent	Skin
COSM5633069	c.7959A>G	p.K2653K	Substitution - coding silent	Oesophagus
COSM1385429	c.3729C>T	p.D1243D	Substitution - coding silent	Large_intestine
COSM983360	c.8305C>T	p.R2769C	Substitution - Missense	Endometrium
COSM5055714	c.5246C>A	p.P1749H	Substitution - Missense	Stomach
COSM983329	c.5003C>T	p.T1668M	Substitution - Missense	Endometrium
COSM4130526	c.5833C>T	p.P1945S	Substitution - Missense	Thyroid
COSM4602848	c.8028_8029insCCTCCAGCC	p.P2684_P2685insAPP	Insertion - In frame	Upper_aerodigestive_tract
COSM5814101	c.965A>G	p.D322G	Substitution - Missense	Liver
COSM473247	c.7974G>A	p.M2658I	Substitution - Missense	Kidney
COSM1303239	c.2378C>T	p.S793L	Substitution - Missense	Urinary_tract
COSM4068935	c.6693A>C	p.T2231T	Substitution - coding silent	Stomach
COSM1246198	c.8239A>C	p.K2747Q	Substitution - Missense	Oesophagus
COSM5790895	c.3936T>G	p.N1312K	Substitution - Missense	Breast
COSM271739	c.8140G>A	p.E2714K	Substitution - Missense	Large_intestine
COSM2797924	c.8615A>C	p.K2872T	Substitution - Missense	Large_intestine

> Text Mining based Variations [ TOP ]
There is no record for BPTF.

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q12830	572	S	Phosphoserine	-	No	None detected
Q12830	763	S	Phosphoserine	-	No	None detected
Q12830	817	S	Phosphoserine	-	No	None detected
Q12830	880	K	N6-acetyllysine	-	No	None detected
Q12830	1064	T	Phosphothreonine	-	No	None detected
Q12830	1231	S	Phosphoserine	-	No	None detected
Q12830	1300	S	Phosphoserine	-	No	None detected
Q12830	1303	T	Phosphothreonine	-	No	None detected
Q12830	1310	S	Phosphoserine	-	No	None detected
Q12830	2098	S	Phosphoserine	-	No	None detected
Q12830	2155	R	Omega-N-methylarginine	-	Yes	p.R2155S (cancer: BRCA)
Q12830	2162	R	Asymmetric dimethylarginine	-	No	None detected
Q12830	2184	R	Asymmetric dimethylarginine	-	Yes	p.R2184H (cancer: STAD)
Q12830	2191	R	Asymmetric dimethylarginine	-	Yes	p.R2191T (cancer: BRCA, STAD)
Q12830	2465	S	Phosphoserine	-	Yes	p.S2465F (cancer: UCEC)

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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)

[ 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	6.305	6.141	-0.125	0.472	NS
BRCA	Breast invasive carcinoma	112	1100	7.013	6.82	-0.126	0.113	NS
CESC	Cervical and endocervical cancers	3	306	6.482	6.013	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.049	5.956	-0.116	0.259	NS
ESCA	Esophageal carcinoma	11	185	7.172	7.169	0.005	0.983	NS
GBM	Glioblastoma multiforme	5	166	6.265	6.067	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.039	5.987	-0.148	0.173	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.554	6.311	-0.257	0.000506	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.376	6.23	-0.122	0.377	NS
LAML	Acute Myeloid Leukemia	0	173	NA	8.585	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.866	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.732	4.843	0.127	0.236	NS
LUAD	Lung adenocarcinoma	59	517	6.411	6.39	0.073	0.433	NS
LUSC	Lung squamous cell carcinoma	51	501	6.327	6.268	-0.03	0.755	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.47	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.289	6.028	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.694	6.264	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.466	6.311	-0.082	0.399	NS
READ	Rectum adenocarcinoma	10	167	6.103	5.94	-0.073	0.775	NS
SARC	Sarcoma	2	263	5.44	5.828	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.155	6.39	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.64	6.965	0.302	0.000388	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.074	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.726	6.309	-0.381	1.43e-07	NS
THYM	Thymoma	2	120	6.84	6.205	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.425	6.034	-0.414	0.000516	NS

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	10.4
Autonomic ganglia	CHP212	10
Autonomic ganglia	IMR32	10.2
Autonomic ganglia	KELLY	9.3
Autonomic ganglia	KPNRTBM1	10.4
Autonomic ganglia	KPNSI9S	8.6
Autonomic ganglia	KPNYN	9.6
Autonomic ganglia	MHHNB11	7.8
Autonomic ganglia	NB1	9.2
Autonomic ganglia	NH6	10.2
Autonomic ganglia	SHSY5Y	10.2
Autonomic ganglia	SIMA	10.2
Autonomic ganglia	SKNAS	9
Autonomic ganglia	SKNBE2	9.5
Autonomic ganglia	SKNDZ	9.1
Autonomic ganglia	SKNFI	9
Autonomic ganglia	SKNSH	8.8
Biliary tract	HUCCT1	8.2
Biliary tract	HUH28	8
Biliary tract	SNU1079	8.7
Biliary tract	SNU1196	7.4
Biliary tract	SNU245	8.3
Biliary tract	SNU308	8
Biliary tract	SNU478	8.1
Bone	143B	7.9
Bone	A673	9.1
Bone	CADOES1	9.7
Bone	CAL78	8.2
Bone	G292CLONEA141B1	8.4
Bone	HOS	8.4
Bone	HS706T	8.2
Bone	HS737T	8.6
Bone	HS819T	8.5
Bone	HS821T	8.1
Bone	HS822T	8.3
Bone	HS863T	8.1
Bone	HS870T	8
Bone	HS888T	8.5
Bone	MG63	8.8
Bone	MHHES1	9.8
Bone	OUMS27	8.1
Bone	RDES	9.2
Bone	SJSA1	8.5
Bone	SKES1	8.9
Bone	SKNMC	8.9
Bone	SW1353	8.4
Bone	T173	8.2
Bone	TC71	8.8
Bone	U2OS	8.7
Breast	AU565	9.7
Breast	BT20	8.3
Breast	BT474	9.2
Breast	BT483	9.4
Breast	BT549	7.6
Breast	CAL120	8.2
Breast	CAL148	9.1
Breast	CAL51	9
Breast	CAL851	7.6
Breast	CAMA1	8.7
Breast	DU4475	8.7
Breast	EFM192A	7.9
Breast	EFM19	8.3
Breast	EVSAT	8.3
Breast	HCC1143	8.5
Breast	HCC1187	8.5
Breast	HCC1395	8.2
Breast	HCC1419	9.9
Breast	HCC1428	9.3
Breast	HCC1500	9.4
Breast	HCC1569	8.3
Breast	HCC1599	8.4
Breast	HCC1806	8.9
Breast	HCC1937	7.8
Breast	HCC1954	8.5
Breast	HCC202	8.9
Breast	HCC2157	8.8
Breast	HCC2218	9
Breast	HCC38	9
Breast	HCC70	8.3
Breast	HDQP1	8.4
Breast	HMC18	8.3
Breast	HS274T	8.3
Breast	HS281T	8.3
Breast	HS343T	8.2
Breast	HS578T	7.8
Breast	HS606T	8.2
Breast	HS739T	8.3
Breast	HS742T	8.1
Breast	JIMT1	7.4
Breast	KPL1	9.7
Breast	MCF7	9.9
Breast	MDAMB134VI	8.8
Breast	MDAMB157	9.2
Breast	MDAMB175VII	8.2
Breast	MDAMB231	7.7
Breast	MDAMB361	9.4
Breast	MDAMB415	8.5
Breast	MDAMB436	6.9
Breast	MDAMB453	10
Breast	MDAMB468	7.7
Breast	SKBR3	10
Breast	T47D	8.9
Breast	UACC812	9.3
Breast	UACC893	7.9
Breast	YMB1	8.7
Breast	ZR751	8.9
Breast	ZR7530	8.9
Central nervous system	1321N1	8.4
Central nervous system	42MGBA	8.2
Central nervous system	8MGBA	8.6
Central nervous system	A172	8.5
Central nervous system	AM38	7.7
Central nervous system	BECKER	8.8
Central nervous system	CAS1	9
Central nervous system	CCFSTTG1	8.3
Central nervous system	D283MED	9.4
Central nervous system	D341MED	9.6
Central nervous system	DAOY	8.4
Central nervous system	DBTRG05MG	8.2
Central nervous system	DKMG	8.8
Central nervous system	GAMG	7.8
Central nervous system	GB1	8.7
Central nervous system	GI1	9
Central nervous system	GMS10	8.5
Central nervous system	GOS3	8.8
Central nervous system	H4	8.5
Central nervous system	HS683	8.7
Central nervous system	KALS1	8.1
Central nervous system	KG1C	8.3
Central nervous system	KNS42	9
Central nervous system	KNS60	7.9
Central nervous system	KNS81	8.4
Central nervous system	KS1	8.6
Central nervous system	LN18	8.2
Central nervous system	LN229	8.5
Central nervous system	M059K	7.9
Central nervous system	MOGGCCM	8.1
Central nervous system	MOGGUVW	8.5
Central nervous system	NMCG1	8
Central nervous system	ONS76	9
Central nervous system	SF126	8
Central nervous system	SF295	8.5
Central nervous system	SNB19	8.3
Central nervous system	SNU1105	8
Central nervous system	SNU201	8.4
Central nervous system	SNU466	8.1
Central nervous system	SNU489	8.5
Central nervous system	SNU626	8.5
Central nervous system	SNU738	8.1
Central nervous system	SW1088	8.1
Central nervous system	SW1783	8.2
Central nervous system	T98G	8.2
Central nervous system	TM31	7.7
Central nervous system	U118MG	8.5
Central nervous system	U138MG	8.8
Central nervous system	U251MG	8.7
Central nervous system	U87MG	7.6
Central nervous system	YH13	8.5
Central nervous system	YKG1	9.3
Endometrium	AN3CA	8.7
Endometrium	COLO684	8.4
Endometrium	EFE184	7.8
Endometrium	EN	8.4
Endometrium	ESS1	8.3
Endometrium	HEC108	8.8
Endometrium	HEC151	7.9
Endometrium	HEC1A	8.8
Endometrium	HEC1B	9.1
Endometrium	HEC251	7.9
Endometrium	HEC265	7.8
Endometrium	HEC50B	7.7
Endometrium	HEC59	8.1
Endometrium	HEC6	8.2
Endometrium	ISHIKAWAHERAKLIO02ER	8.7
Endometrium	JHUEM1	8.3
Endometrium	JHUEM2	8.5
Endometrium	JHUEM3	8.4
Endometrium	KLE	7.5
Endometrium	MFE280	8.9
Endometrium	MFE296	8.8
Endometrium	MFE319	8.2
Endometrium	RL952	8.2
Endometrium	SNGM	8.2
Endometrium	SNU1077	8.9
Endometrium	SNU685	9.3
Endometrium	TEN	8.9
Haematopoietic and lymphoid	697	9.4
Haematopoietic and lymphoid	A3KAW	8.6
Haematopoietic and lymphoid	A4FUK	8.7
Haematopoietic and lymphoid	ALLSIL	9.7
Haematopoietic and lymphoid	AML193	9.1
Haematopoietic and lymphoid	AMO1	8.8
Haematopoietic and lymphoid	BCP1	8.6
Haematopoietic and lymphoid	BDCM	8.4
Haematopoietic and lymphoid	BL41	9.2
Haematopoietic and lymphoid	BL70	9.4
Haematopoietic and lymphoid	BV173	8.2
Haematopoietic and lymphoid	CA46	9
Haematopoietic and lymphoid	CI1	9.6
Haematopoietic and lymphoid	CMK115	9.1
Haematopoietic and lymphoid	CMK86	9
Haematopoietic and lymphoid	CMK	9
Haematopoietic and lymphoid	CMLT1	9.2
Haematopoietic and lymphoid	COLO775	8
Haematopoietic and lymphoid	DAUDI	9.6
Haematopoietic and lymphoid	DB	10.1
Haematopoietic and lymphoid	DEL	8.7
Haematopoietic and lymphoid	DND41	8.2
Haematopoietic and lymphoid	DOHH2	10.1
Haematopoietic and lymphoid	EB1	9
Haematopoietic and lymphoid	EB2	9.3
Haematopoietic and lymphoid	EHEB	8.2
Haematopoietic and lymphoid	EJM	8
Haematopoietic and lymphoid	EM2	9.2
Haematopoietic and lymphoid	EOL1	9.2
Haematopoietic and lymphoid	F36P	8.4
Haematopoietic and lymphoid	GA10	9.2
Haematopoietic and lymphoid	GDM1	9
Haematopoietic and lymphoid	GRANTA519	9.6
Haematopoietic and lymphoid	HDLM2	7.8
Haematopoietic and lymphoid	HDMYZ	8.4
Haematopoietic and lymphoid	HEL9217	8.5
Haematopoietic and lymphoid	HEL	8.6
Haematopoietic and lymphoid	HH	8.7
Haematopoietic and lymphoid	HL60	8.6
Haematopoietic and lymphoid	HPBALL	9
Haematopoietic and lymphoid	HS604T	8.7
Haematopoietic and lymphoid	HS611T	9.1
Haematopoietic and lymphoid	HS616T	8.6
Haematopoietic and lymphoid	HS751T	8.5
Haematopoietic and lymphoid	HT	10.9
Haematopoietic and lymphoid	HTK	7.5
Haematopoietic and lymphoid	HUNS1	8.4
Haematopoietic and lymphoid	HUT102	8.7
Haematopoietic and lymphoid	HUT78	8.6
Haematopoietic and lymphoid	JEKO1	9.5
Haematopoietic and lymphoid	JK1	8.7
Haematopoietic and lymphoid	JM1	9.7
Haematopoietic and lymphoid	JURKAT	9
Haematopoietic and lymphoid	JURLMK1	8.2
Haematopoietic and lymphoid	JVM2	8.5
Haematopoietic and lymphoid	JVM3	9
Haematopoietic and lymphoid	K562	8.3
Haematopoietic and lymphoid	KARPAS299	8.5
Haematopoietic and lymphoid	KARPAS422	10.7
Haematopoietic and lymphoid	KARPAS620	9
Haematopoietic and lymphoid	KASUMI1	9.9
Haematopoietic and lymphoid	KASUMI2	9.7
Haematopoietic and lymphoid	KASUMI6	9.1
Haematopoietic and lymphoid	KCL22	8.5
Haematopoietic and lymphoid	KE37	10
Haematopoietic and lymphoid	KE97	8.5
Haematopoietic and lymphoid	KG1	8.8
Haematopoietic and lymphoid	KHM1B	8.7
Haematopoietic and lymphoid	KIJK	7.9
Haematopoietic and lymphoid	KMH2	8.6
Haematopoietic and lymphoid	KMM1	8.6
Haematopoietic and lymphoid	KMS11	8.8
Haematopoietic and lymphoid	KMS12BM	8.2
Haematopoietic and lymphoid	KMS18	9.5
Haematopoietic and lymphoid	KMS20	8.9
Haematopoietic and lymphoid	KMS21BM	8.2
Haematopoietic and lymphoid	KMS26	8.4
Haematopoietic and lymphoid	KMS27	8.2
Haematopoietic and lymphoid	KMS28BM	8.7
Haematopoietic and lymphoid	KMS34	8.9
Haematopoietic and lymphoid	KO52	9.2
Haematopoietic and lymphoid	KOPN8	8.6
Haematopoietic and lymphoid	KU812	9.4
Haematopoietic and lymphoid	KYO1	8.5
Haematopoietic and lymphoid	L1236	8.7
Haematopoietic and lymphoid	L363	9.1
Haematopoietic and lymphoid	L428	8.5
Haematopoietic and lymphoid	L540	8.5
Haematopoietic and lymphoid	LAMA84	8.8
Haematopoietic and lymphoid	LOUCY	9.6
Haematopoietic and lymphoid	LP1	9
Haematopoietic and lymphoid	M07E	9
Haematopoietic and lymphoid	MC116	9.4
Haematopoietic and lymphoid	ME1	8.1
Haematopoietic and lymphoid	MEC1	8.9
Haematopoietic and lymphoid	MEC2	9.1
Haematopoietic and lymphoid	MEG01	8.9
Haematopoietic and lymphoid	MHHCALL2	9.5
Haematopoietic and lymphoid	MHHCALL3	9.6
Haematopoietic and lymphoid	MHHCALL4	9.5
Haematopoietic and lymphoid	MINO	9.1
Haematopoietic and lymphoid	MJ	8.5
Haematopoietic and lymphoid	MM1S	8.4
Haematopoietic and lymphoid	MOLM13	8.5
Haematopoietic and lymphoid	MOLM16	8.6
Haematopoietic and lymphoid	MOLM6	8.4
Haematopoietic and lymphoid	MOLP2	8.4
Haematopoietic and lymphoid	MOLP8	8.8
Haematopoietic and lymphoid	MOLT13	10.3
Haematopoietic and lymphoid	MOLT16	9.9
Haematopoietic and lymphoid	MOLT4	8.6
Haematopoietic and lymphoid	MONOMAC1	8.9
Haematopoietic and lymphoid	MONOMAC6	9.2
Haematopoietic and lymphoid	MOTN1	9.3
Haematopoietic and lymphoid	MUTZ5	9.1
Haematopoietic and lymphoid	MV411	8.9
Haematopoietic and lymphoid	NALM19	9.9
Haematopoietic and lymphoid	NALM1	9.5
Haematopoietic and lymphoid	NALM6	9.5
Haematopoietic and lymphoid	NAMALWA	9.6
Haematopoietic and lymphoid	NB4	8.7
Haematopoietic and lymphoid	NCIH929	8
Haematopoietic and lymphoid	NCO2	8.7
Haematopoietic and lymphoid	NOMO1	8.7
Haematopoietic and lymphoid	NUDHL1	9.6
Haematopoietic and lymphoid	NUDUL1	9.6
Haematopoietic and lymphoid	OCIAML2	8.9
Haematopoietic and lymphoid	OCIAML3	9.2
Haematopoietic and lymphoid	OCIAML5	8.9
Haematopoietic and lymphoid	OCILY10	9.5
Haematopoietic and lymphoid	OCILY19	9
Haematopoietic and lymphoid	OCILY3	8.1
Haematopoietic and lymphoid	OCIM1	8.7
Haematopoietic and lymphoid	OPM2	9
Haematopoietic and lymphoid	P12ICHIKAWA	9.7
Haematopoietic and lymphoid	P31FUJ	8.6
Haematopoietic and lymphoid	P3HR1	10
Haematopoietic and lymphoid	PCM6	8.1
Haematopoietic and lymphoid	PEER	8.9
Haematopoietic and lymphoid	PF382	10.1
Haematopoietic and lymphoid	PFEIFFER	9.3
Haematopoietic and lymphoid	PL21	8.9
Haematopoietic and lymphoid	RAJI	9.2
Haematopoietic and lymphoid	RCHACV	9.1
Haematopoietic and lymphoid	REC1	9.9
Haematopoietic and lymphoid	REH	8.8
Haematopoietic and lymphoid	RI1	8.6
Haematopoietic and lymphoid	RL	9.5
Haematopoietic and lymphoid	RPMI8226	8.3
Haematopoietic and lymphoid	RPMI8402	9.8
Haematopoietic and lymphoid	RS411	9.2
Haematopoietic and lymphoid	SEM	9
Haematopoietic and lymphoid	SET2	9
Haematopoietic and lymphoid	SIGM5	9
Haematopoietic and lymphoid	SKM1	8.8
Haematopoietic and lymphoid	SKMM2	8.8
Haematopoietic and lymphoid	SR786	8.8
Haematopoietic and lymphoid	ST486	8.8
Haematopoietic and lymphoid	SUDHL10	9.3
Haematopoietic and lymphoid	SUDHL1	8.1
Haematopoietic and lymphoid	SUDHL4	9.9
Haematopoietic and lymphoid	SUDHL5	10.1
Haematopoietic and lymphoid	SUDHL6	9.9
Haematopoietic and lymphoid	SUDHL8	8.9
Haematopoietic and lymphoid	SUPB15	9
Haematopoietic and lymphoid	SUPHD1	8.4
Haematopoietic and lymphoid	SUPM2	9.2
Haematopoietic and lymphoid	SUPT11	9.5
Haematopoietic and lymphoid	SUPT1	8.9
Haematopoietic and lymphoid	TALL1	9.6
Haematopoietic and lymphoid	TF1	8.1
Haematopoietic and lymphoid	THP1	8.4
Haematopoietic and lymphoid	TO175T	8.5
Haematopoietic and lymphoid	TOLEDO	9.4
Haematopoietic and lymphoid	U266B1	8.3
Haematopoietic and lymphoid	U937	8.6
Haematopoietic and lymphoid	UT7	9.4
Haematopoietic and lymphoid	WSUDLCL2	9.8
Kidney	769P	8.3
Kidney	786O	7.5
Kidney	A498	7.9
Kidney	A704	8.1
Kidney	ACHN	8.3
Kidney	BFTC909	7.4
Kidney	CAKI1	8.7
Kidney	CAKI2	7.6
Kidney	CAL54	8.9
Kidney	KMRC1	8
Kidney	KMRC20	8
Kidney	KMRC2	8.2
Kidney	KMRC3	8.2
Kidney	OSRC2	8.5
Kidney	RCC10RGB	8.7
Kidney	SNU1272	8.4
Kidney	SNU349	7.8
Kidney	TUHR10TKB	7.7
Kidney	TUHR14TKB	8.9
Kidney	TUHR4TKB	8.4
Kidney	VMRCRCW	7.7
Kidney	VMRCRCZ	8.8
Large intestine	C2BBE1	8.1
Large intestine	CCK81	8.3
Large intestine	CL11	8.4
Large intestine	CL14	8.7
Large intestine	CL34	8.5
Large intestine	CL40	8.3
Large intestine	COLO205	8.5
Large intestine	COLO320	9.2
Large intestine	COLO678	9.5
Large intestine	CW2	7.8
Large intestine	DLD1	7.8
Large intestine	GP2D	8.8
Large intestine	HCC56	9.1
Large intestine	HCT116	8.7
Large intestine	HCT15	8.5
Large intestine	HS675T	8.1
Large intestine	HS698T	8.7
Large intestine	HT115	8.3
Large intestine	HT29	9.4
Large intestine	HT55	9
Large intestine	KM12	8.2
Large intestine	LOVO	8
Large intestine	LS1034	8.5
Large intestine	LS123	8
Large intestine	LS180	8.3
Large intestine	LS411N	8
Large intestine	LS513	8.5
Large intestine	MDST8	8.1
Large intestine	NCIH508	8.9
Large intestine	NCIH716	8.1
Large intestine	NCIH747	8.2
Large intestine	OUMS23	8.3
Large intestine	RCM1	8.4
Large intestine	RKO	7.7
Large intestine	SKCO1	8.7
Large intestine	SNU1040	7.7
Large intestine	SNU1197	8.5
Large intestine	SNU175	8.8
Large intestine	SNU283	8.2
Large intestine	SNU407	8.3
Large intestine	SNU503	8.4
Large intestine	SNU61	8.5
Large intestine	SNU81	9
Large intestine	SNUC1	8.3
Large intestine	SNUC2A	8.6
Large intestine	SNUC4	8.6
Large intestine	SNUC5	8.6
Large intestine	SW1116	8.4
Large intestine	SW1417	8.5
Large intestine	SW1463	8.3
Large intestine	SW403	8.3
Large intestine	SW480	8
Large intestine	SW48	8.6
Large intestine	SW620	9
Large intestine	SW837	8.6
Large intestine	SW948	9
Large intestine	T84	8.5
Liver	ALEXANDERCELLS	8
Liver	C3A	8.5
Liver	HEP3B217	8.7
Liver	HEPG2	8.8
Liver	HLE	8.2
Liver	HLF	8.5
Liver	HUH1	7.9
Liver	HUH6	8
Liver	HUH7	7.8
Liver	JHH1	8.3
Liver	JHH2	7.9
Liver	JHH4	9.4
Liver	JHH5	9.1
Liver	JHH6	7.9
Liver	JHH7	8.5
Liver	LI7	8.6
Liver	PLCPRF5	8.2
Liver	SKHEP1	8.9
Liver	SNU182	8.4
Liver	SNU387	8.2
Liver	SNU398	9
Liver	SNU423	8.1
Liver	SNU449	8.7
Liver	SNU475	8.2
Liver	SNU761	8.3
Liver	SNU878	8.1
Liver	SNU886	8.5
Lung	A549	8.1
Lung	ABC1	8.1
Lung	BEN	9.3
Lung	CAL12T	7.8
Lung	CALU1	8.3
Lung	CALU3	8
Lung	CALU6	8
Lung	CHAGOK1	8.8
Lung	COLO668	8
Lung	COLO699	8.7
Lung	CORL105	8.6
Lung	CORL23	8.1
Lung	CORL24	9.4
Lung	CORL279	9.2
Lung	CORL311	9.6
Lung	CORL47	8.6
Lung	CORL51	9.4
Lung	CORL88	9.3
Lung	CORL95	8.5
Lung	CPCN	9.4
Lung	DMS114	8.7
Lung	DMS153	8.8
Lung	DMS273	8.5
Lung	DMS454	8.8
Lung	DMS53	8.6
Lung	DMS79	7.9
Lung	DV90	7.9
Lung	EBC1	8.4
Lung	EPLC272H	7.7
Lung	HARA	8
Lung	HCC1171	9
Lung	HCC1195	7.8
Lung	HCC15	8.1
Lung	HCC2279	8
Lung	HCC2935	9.1
Lung	HCC33	9.6
Lung	HCC366	8.6
Lung	HCC4006	8.6
Lung	HCC44	8.1
Lung	HCC78	8.3
Lung	HCC827	8
Lung	HCC95	8.2
Lung	HLC1	9
Lung	HLFA	8
Lung	HS229T	8
Lung	HS618T	8.1
Lung	IALM	9
Lung	KNS62	7.6
Lung	LC1F	9.1
Lung	LC1SQSF	8.7
Lung	LCLC103H	7.8
Lung	LCLC97TM1	8.4
Lung	LK2	8.1
Lung	LOUNH91	8.4
Lung	LU65	8.2
Lung	LU99	8.4
Lung	LUDLU1	8.2
Lung	LXF289	8.8
Lung	MORCPR	8.7
Lung	NCIH1048	9.3
Lung	NCIH1092	9.4
Lung	NCIH1105	9.4
Lung	NCIH1155	8.7
Lung	NCIH1184	10.2
Lung	NCIH1299	8.4
Lung	NCIH1339	8.2
Lung	NCIH1341	8.4
Lung	NCIH1355	8.5
Lung	NCIH1373	8.6
Lung	NCIH1385	9.6
Lung	NCIH1395	7.5
Lung	NCIH1435	8.7
Lung	NCIH1436	9.7
Lung	NCIH1437	8.3
Lung	NCIH146	8.5
Lung	NCIH1563	8.5
Lung	NCIH1568	7.9
Lung	NCIH1573	8.8
Lung	NCIH1581	9.2
Lung	NCIH1618	9.7
Lung	NCIH1623	8.9
Lung	NCIH1648	8
Lung	NCIH1650	8.1
Lung	NCIH1651	7.6
Lung	NCIH1666	8.7
Lung	NCIH1693	8.3
Lung	NCIH1694	9.4
Lung	NCIH1703	8.3
Lung	NCIH1734	8.5
Lung	NCIH1755	8.2
Lung	NCIH1781	8.6
Lung	NCIH1792	7.8
Lung	NCIH1793	8
Lung	NCIH1836	9
Lung	NCIH1838	8.6
Lung	NCIH1869	7.8
Lung	NCIH1876	9.9
Lung	NCIH1915	8.5
Lung	NCIH1930	9.1
Lung	NCIH1944	7.5
Lung	NCIH1963	9.7
Lung	NCIH196	8.4
Lung	NCIH1975	8.2
Lung	NCIH2009	8.6
Lung	NCIH2023	8.2
Lung	NCIH2029	8.9
Lung	NCIH2030	7.6
Lung	NCIH2066	8.6
Lung	NCIH2081	10
Lung	NCIH2085	8.2
Lung	NCIH2087	7.6
Lung	NCIH209	8.9
Lung	NCIH2106	8.3
Lung	NCIH2110	8.5
Lung	NCIH211	8.9
Lung	NCIH2122	8.2
Lung	NCIH2126	8.5
Lung	NCIH2141	9
Lung	NCIH2170	8.5
Lung	NCIH2171	8.4
Lung	NCIH2172	7.9
Lung	NCIH2196	8.8
Lung	NCIH2227	9.4
Lung	NCIH2228	8.1
Lung	NCIH226	8.1
Lung	NCIH2286	8.9
Lung	NCIH2291	7.9
Lung	NCIH2342	8.6
Lung	NCIH2347	7.6
Lung	NCIH23	7.9
Lung	NCIH2405	9
Lung	NCIH2444	8
Lung	NCIH292	8.2
Lung	NCIH322	7.9
Lung	NCIH3255	8.5
Lung	NCIH358	8.9
Lung	NCIH441	8.5
Lung	NCIH446	8.5
Lung	NCIH460	7.9
Lung	NCIH510	9
Lung	NCIH520	8.2
Lung	NCIH522	9.6
Lung	NCIH524	8.9
Lung	NCIH526	9.1
Lung	NCIH596	8.3
Lung	NCIH647	8
Lung	NCIH650	8.8
Lung	NCIH661	8.3
Lung	NCIH69	9.1
Lung	NCIH727	7.1
Lung	NCIH810	9.4
Lung	NCIH82	8.8
Lung	NCIH838	7.6
Lung	NCIH841	9.2
Lung	NCIH854	8.7
Lung	NCIH889	9.1
Lung	PC14	8.5
Lung	RERFLCAD1	8.2
Lung	RERFLCAD2	7.8
Lung	RERFLCAI	8.6
Lung	RERFLCKJ	8.4
Lung	RERFLCMS	8.4
Lung	RERFLCSQ1	8.1
Lung	SBC5	8.7
Lung	SCLC21H	9.4
Lung	SHP77	8.1
Lung	SKLU1	7.9
Lung	SKMES1	8.8
Lung	SQ1	8
Lung	SW1271	8.3
Lung	SW1573	8.8
Lung	SW900	8.1
Lung	VMRCLCD	9
Lung	VMRCLCP	8.7
Oesophagus	COLO680N	8.9
Oesophagus	ECGI10	8.2
Oesophagus	KYSE140	8.5
Oesophagus	KYSE150	8.4
Oesophagus	KYSE180	8
Oesophagus	KYSE270	8.3
Oesophagus	KYSE30	9.1
Oesophagus	KYSE410	8.3
Oesophagus	KYSE450	7.8
Oesophagus	KYSE510	7.9
Oesophagus	KYSE520	8.7
Oesophagus	KYSE70	8.1
Oesophagus	OE19	8.2
Oesophagus	OE33	8.2
Oesophagus	TE10	7.5
Oesophagus	TE11	7.9
Oesophagus	TE14	8.6
Oesophagus	TE15	7.6
Oesophagus	TE1	7.7
Oesophagus	TE4	8.1
Oesophagus	TE5	8.5
Oesophagus	TE6	8.7
Oesophagus	TE8	8.7
Oesophagus	TE9	8.5
Oesophagus	TT	9
Ovary	59M	7.9
Ovary	A2780	8.6
Ovary	CAOV3	8
Ovary	CAOV4	8.9
Ovary	COLO704	8.8
Ovary	COV318	8.3
Ovary	COV362	8.2
Ovary	COV434	8.7
Ovary	COV504	9.3
Ovary	COV644	8.1
Ovary	EFO21	7.6
Ovary	EFO27	8.1
Ovary	ES2	7.8
Ovary	FUOV1	9.1
Ovary	HEYA8	7.6
Ovary	HS571T	8.2
Ovary	IGROV1	8.1
Ovary	JHOC5	8.1
Ovary	JHOM1	8.6
Ovary	JHOM2B	8.2
Ovary	JHOS2	8.5
Ovary	JHOS4	7.6
Ovary	KURAMOCHI	8.5
Ovary	MCAS	8.1
Ovary	NIHOVCAR3	9.1
Ovary	OAW28	8.5
Ovary	OAW42	8.8
Ovary	OC314	8.5
Ovary	OC316	8.4
Ovary	ONCODG1	8.7
Ovary	OV56	8
Ovary	OV7	8.4
Ovary	OV90	8.4
Ovary	OVCAR4	7.9
Ovary	OVCAR8	8.6
Ovary	OVISE	8.5
Ovary	OVK18	7.9
Ovary	OVKATE	9.1
Ovary	OVMANA	8.8
Ovary	OVSAHO	7.4
Ovary	OVTOKO	7.4
Ovary	RMGI	7.1
Ovary	RMUGS	7.8
Ovary	SKOV3	8.4
Ovary	SNU119	8.5
Ovary	SNU840	8.6
Ovary	SNU8	8.7
Ovary	TOV112D	9.2
Ovary	TOV21G	8.2
Ovary	TYKNU	7.6
Pancreas	ASPC1	7.9
Pancreas	BXPC3	7.6
Pancreas	CAPAN1	8.6
Pancreas	CAPAN2	7.9
Pancreas	CFPAC1	8.4
Pancreas	DANG	8.2
Pancreas	HPAC	9.3
Pancreas	HPAFII	7.8
Pancreas	HS766T	7.5
Pancreas	HUPT3	8.7
Pancreas	HUPT4	8.4
Pancreas	KCIMOH1	8.5
Pancreas	KLM1	7.6
Pancreas	KP2	8.5
Pancreas	KP3	8.3
Pancreas	KP4	9
Pancreas	L33	8.5
Pancreas	MIAPACA2	9
Pancreas	PANC0203	9
Pancreas	PANC0213	8.2
Pancreas	PANC0327	8.2
Pancreas	PANC0403	7.6
Pancreas	PANC0504	8
Pancreas	PANC0813	8.3
Pancreas	PANC1005	8.4
Pancreas	PANC1	7.7
Pancreas	PATU8902	8.8
Pancreas	PATU8988S	8.1
Pancreas	PATU8988T	8.1
Pancreas	PK1	8.2
Pancreas	PK45H	8.2
Pancreas	PK59	8.3
Pancreas	PL45	8.6
Pancreas	PSN1	8.1
Pancreas	QGP1	9.3
Pancreas	SNU213	8.4
Pancreas	SNU324	8.7
Pancreas	SNU410	8.1
Pancreas	SU8686	8.4
Pancreas	SUIT2	8.1
Pancreas	SW1990	7.6
Pancreas	T3M4	8.7
Pancreas	TCCPAN2	8.7
Pancreas	YAPC	8.9
Pleura	ACCMESO1	7.1
Pleura	DM3	8.1
Pleura	ISTMES1	9
Pleura	ISTMES2	8.5
Pleura	JL1	8.3
Pleura	MPP89	7.7
Pleura	MSTO211H	8.2
Pleura	NCIH2052	8.4
Pleura	NCIH2452	8.5
Pleura	NCIH28	8.8
Prostate	22RV1	8.1
Prostate	DU145	7.7
Prostate	LNCAPCLONEFGC	8.4
Prostate	MDAPCA2B	8.3
Prostate	NCIH660	8.9
Prostate	PC3	8.5
Prostate	VCAP	9
Salivary gland	A253	8.4
Salivary gland	YD15	8.2
Skin	A101D	7.8
Skin	A2058	8.5
Skin	A375	8.2
Skin	C32	8.2
Skin	CHL1	8.4
Skin	CJM	7.6
Skin	COLO679	8.1
Skin	COLO741	8.4
Skin	COLO783	8.5
Skin	COLO792	8.2
Skin	COLO800	8.2
Skin	COLO818	7.9
Skin	COLO829	8
Skin	COLO849	8.5
Skin	G361	8.5
Skin	GRM	7.9
Skin	HMCB	8.3
Skin	HS294T	7.8
Skin	HS600T	8.3
Skin	HS688AT	8.2
Skin	HS695T	8.7
Skin	HS839T	8.3
Skin	HS852T	8.3
Skin	HS895T	7.8
Skin	HS934T	8.2
Skin	HS936T	8.3
Skin	HS939T	8.5
Skin	HS940T	8.4
Skin	HS944T	7.6
Skin	HT144	8.4
Skin	IGR1	7.9
Skin	IGR37	7.7
Skin	IGR39	8.1
Skin	IPC298	8.4
Skin	K029AX	8.3
Skin	LOXIMVI	8.7
Skin	MALME3M	8.1
Skin	MDAMB435S	8.1
Skin	MELHO	8.1
Skin	MELJUSO	9.1
Skin	MEWO	9
Skin	RPMI7951	8.2
Skin	RVH421	8.2
Skin	SH4	8.8
Skin	SKMEL1	8.8
Skin	SKMEL24	7.7
Skin	SKMEL28	8.1
Skin	SKMEL2	8.3
Skin	SKMEL30	8.3
Skin	SKMEL31	8.1
Skin	SKMEL3	8.7
Skin	SKMEL5	8.8
Skin	UACC257	8.5
Skin	UACC62	7.9
Skin	WM115	7.9
Skin	WM1799	8.2
Skin	WM2664	8.2
Skin	WM793	8
Skin	WM88	8.2
Skin	WM983B	8
Small intestine	HUTU80	9.2
Soft tissue	A204	8.2
Soft tissue	G401	8.6
Soft tissue	G402	8.6
Soft tissue	GCT	8.1
Soft tissue	HS729	8.8
Soft tissue	HT1080	7.9
Soft tissue	KYM1	8.9
Soft tissue	MESSA	8.2
Soft tissue	RD	8.8
Soft tissue	RH30	8.5
Soft tissue	RH41	8.9
Soft tissue	RKN	8.3
Soft tissue	S117	9.1
Soft tissue	SJRH30	8.3
Soft tissue	SKLMS1	9
Soft tissue	SKUT1	8.7
Soft tissue	TE125T	7.9
Soft tissue	TE159T	8.5
Soft tissue	TE441T	9
Soft tissue	TE617T	9
Stomach	2313287	8.5
Stomach	AGS	8.2
Stomach	AZ521	8.7
Stomach	ECC10	9.5
Stomach	ECC12	9
Stomach	FU97	7.1
Stomach	GCIY	8.7
Stomach	GSS	8.9
Stomach	GSU	8.9
Stomach	HGC27	8.5
Stomach	HS746T	8.6
Stomach	HUG1N	7.6
Stomach	IM95	8.3
Stomach	KATOIII	7.8
Stomach	KE39	7.7
Stomach	LMSU	8.2
Stomach	MKN1	7.9
Stomach	MKN45	8.8
Stomach	MKN74	8.2
Stomach	MKN7	8.3
Stomach	NCCSTCK140	8.8
Stomach	NCIN87	9
Stomach	NUGC2	8
Stomach	NUGC3	7.3
Stomach	NUGC4	9.7
Stomach	OCUM1	8.3
Stomach	RERFGC1B	9.2
Stomach	SH10TC	8
Stomach	SNU16	8.5
Stomach	SNU1	8.9
Stomach	SNU216	8.3
Stomach	SNU520	8.3
Stomach	SNU5	8
Stomach	SNU601	8.2
Stomach	SNU620	8.4
Stomach	SNU668	8.6
Stomach	SNU719	8.9
Stomach	TGBC11TKB	9.1
Thyroid	8305C	7.7
Thyroid	8505C	8.3
Thyroid	BCPAP	8.8
Thyroid	BHT101	8.1
Thyroid	CAL62	8.2
Thyroid	CGTHW1	8.1
Thyroid	FTC133	8.1
Thyroid	FTC238	7.9
Thyroid	ML1	8.6
Thyroid	SW579	7.8
Thyroid	TT2609C02	8.7
Thyroid	TT	9.3
Upper aerodigestive tract	BHY	7.8
Upper aerodigestive tract	BICR16	6.8
Upper aerodigestive tract	BICR18	8.5
Upper aerodigestive tract	BICR22	8.1
Upper aerodigestive tract	BICR31	8
Upper aerodigestive tract	BICR56	8.5
Upper aerodigestive tract	BICR6	7.8
Upper aerodigestive tract	CAL27	8.1
Upper aerodigestive tract	CAL33	8.2
Upper aerodigestive tract	DETROIT562	7.3
Upper aerodigestive tract	FADU	8.3
Upper aerodigestive tract	HS840T	8.2
Upper aerodigestive tract	HSC2	8.4
Upper aerodigestive tract	HSC3	7.2
Upper aerodigestive tract	HSC4	8.4
Upper aerodigestive tract	PECAPJ15	8
Upper aerodigestive tract	PECAPJ34CLONEC12	8.1
Upper aerodigestive tract	PECAPJ41CLONED2	7.9
Upper aerodigestive tract	PECAPJ49	7.7
Upper aerodigestive tract	SCC15	8.3
Upper aerodigestive tract	SCC25	7.4
Upper aerodigestive tract	SCC4	7.6
Upper aerodigestive tract	SCC9	9.2
Upper aerodigestive tract	SNU1076	8.2
Upper aerodigestive tract	SNU1214	8
Upper aerodigestive tract	SNU46	8.7
Upper aerodigestive tract	SNU899	8
Upper aerodigestive tract	YD10B	8.2
Upper aerodigestive tract	YD38	7.5
Upper aerodigestive tract	YD8	8.4
Urinary tract	5637	8
Urinary tract	639V	8.5
Urinary tract	647V	8.2
Urinary tract	BC3C	7.6
Urinary tract	BFTC905	8.3
Urinary tract	CAL29	7.5
Urinary tract	HS172T	8.1
Urinary tract	HT1197	7.4
Urinary tract	HT1376	7.7
Urinary tract	J82	7.8
Urinary tract	JMSU1	8.1
Urinary tract	KMBC2	8.6
Urinary tract	KU1919	8.2
Urinary tract	RT11284	8.6
Urinary tract	RT112	8.2
Urinary tract	RT4	8.1
Urinary tract	SCABER	7.1
Urinary tract	SW1710	8.7
Urinary tract	SW780	9
Urinary tract	T24	8.2
Urinary tract	TCCSUP	7.8
Urinary tract	UMUC1	7.6
Urinary tract	UMUC3	8.2
Urinary tract	VMCUB1	8.5

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	21.8
Adrenal gland	27.1
Appendix	38.5
Bone marrow	21.2
Breast	35.1
Cerebral cortex	39.5
Cervix, uterine	44.2
Colon	24.1
Duodenum	17.7
Endometrium	49.6
Epididymis	39.4
Esophagus	20.7
Fallopian tube	42.5
Gallbladder	35
Heart muscle	10.8
Kidney	26
Liver	10.6
Lung	32.5
Lymph node	55.3
Ovary	45.6
Pancreas	4.8
Parathyroid gland	66.3
Placenta	36.6
Prostate	39.1
Rectum	28.4
Salivary gland	9
Seminal vesicle	28.4
Skeletal muscle	8.5
Skin	50.2
Small intestine	21.4
Smooth muscle	35.1
Spleen	43
Stomach	23.3
Testis	62.7
Thyroid gland	44.9
Tonsil	41.7
Urinary bladder	26.6

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
26418899	Overexpression	Colorectal Carcinoma	BPTF mRNA and protein expression were significantly overexpressed in CRC tissues when compared with paired NATs (P < 0.01). The expression levels of BPTF and vimentin in CRC paraffin-embedded specimens were significantly higher than the expression in NATs (P < 0.01).
25713167	Overexpression	Melanoma	BPTF overexpression predicted poor survival in a cohort of 311 melanoma patients (distant metastasis-free survival P = .03, and disease-specific survival P = .008), and promoted resistance to BRAF inhibitors in melanoma cell lines.
25362514	Overexpression	Hepatocellular Carcinoma	BPTF and vimentin showed high expression and E-cadherin showed low expression in HCC. BPTF is associated with the tumor number, vascular invasion, Edmondson-Steiner grade, TNM stage and recurrence (P < 0.05).

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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)

[ 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	0.428	1.83e-19	4.7	48.3	47	Gain
BRCA	Breast invasive carcinoma	1075	0.601	1.04e-106	11.9	47.5	40.6	Gain
CESC	Cervical and endocervical cancers	292	0.445	1.42e-15	9.6	66.1	24.3	Neutral
COAD	Colon adenocarcinoma	449	0.412	8.89e-20	12	64.4	23.6	Neutral
ESCA	Esophageal carcinoma	183	0.454	1.07e-10	10.9	51.4	37.7	Gain
GBM	Glioblastoma multiforme	147	0.307	0.000157	8.2	79.6	12.2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.33	1.47e-14	7	71	22	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.201	3.4e-06	5	87.2	7.8	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.29	5.58e-07	0.3	30.6	69.1	Gain
LAML	Acute Myeloid Leukemia	166	0.333	1.17e-05	3	94	3	Neutral
LGG	Brain Lower Grade Glioma	513	0.282	7.88e-11	1.9	90.8	7.2	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.337	4.11e-11	6.9	57.1	36	Gain
LUAD	Lung adenocarcinoma	512	0.373	2.51e-18	4.9	46.3	48.8	Gain
LUSC	Lung squamous cell carcinoma	498	0.414	5.08e-22	11	42.4	46.6	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.534	1.56e-23	41	29.7	29.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.461	1.12e-10	20.3	64.4	15.3	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.333	1.52e-05	8	85.8	6.2	Neutral
PRAD	Prostate adenocarcinoma	491	0.219	9.21e-07	4.7	91.4	3.9	Neutral
READ	Rectum adenocarcinoma	164	0.313	4.43e-05	12.8	64	23.2	Neutral
SARC	Sarcoma	255	0.376	5.35e-10	16.5	52.9	30.6	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.455	4.01e-20	11.7	54.8	33.5	Gain
STAD	Stomach adenocarcinoma	413	0.417	8.98e-19	16.2	62.7	21.1	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.157	0.0554	7.3	54	38.7	Gain
THCA	Thyroid carcinoma	497	0.124	0.00566	0.2	95.6	4.2	Neutral
THYM	Thymoma	119	0.279	0.00213	3.4	88.2	8.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.471	6.09e-31	10.2	74.1	15.6	Neutral

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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

[ 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	-0.065	0.183	17	408	-0.004	0.354	NS/NA
BRCA	Breast invasive carcinoma	-0.076	0.0243	83	785	0.007	0.907	NS/NA
CESC	Cervical and endocervical cancers	-0.179	0.00164	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.301	5.91e-08	19	297	-0.003	0.369	NS/NA
ESCA	Esophageal carcinoma	-0.248	0.000504	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.01	0.936	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.102	0.0172	20	522	0.001	3.43e-06	NS/NA
KIRC	Kidney renal clear cell carcinoma	0.024	0.654	24	319	-0.009	0.00156	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.136	0.0187	23	275	-0.007	0.682	NS/NA
LAML	Acute Myeloid Leukemia	-0.026	0.739	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.082	0.0589	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.119	0.0156	41	373	-0.007	2.13e-06	NS/NA
LUAD	Lung adenocarcinoma	0.005	0.915	21	456	0.036	0.13	NS/NA
LUSC	Lung squamous cell carcinoma	-0.095	0.064	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.45	0.23	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.197	0.00774	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.093	0.203	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.057	0.189	35	498	0	0.142	NS/NA
READ	Rectum adenocarcinoma	-0.384	8.31e-05	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.187	0.00237	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.145	0.00161	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.288	1.89e-08	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.186	0.0202	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	0.039	0.36	50	509	-0.003	0.598	NS/NA
THYM	Thymoma	-0.072	0.431	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.02	0.661	34	431	-0.01	4.19e-05	NS/NA

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	2	Medium
Appendix	1	Low
Bone marrow	0	Not detected
Breast	1	Low
Bronchus	2	Medium
Caudate	2	Medium
Cerebellum	2	Medium
Cerebral cortex	1	Low
Cervix, uterine	0	Not detected
Colon	2	Medium
Duodenum	2	Medium
Endometrium	1	Low
Epididymis	0	Not detected
Esophagus	0	Not detected
Fallopian tube	1	Low
Gallbladder	2	Medium
Heart muscle	0	Not detected
Hippocampus	0	Not detected
Kidney	1	Low
Liver	2	Medium
Lung	2	Medium
Lymph node	0	Not detected
Nasopharynx	2	Medium
Oral mucosa	0	Not detected
Ovary	1	Low
Pancreas	0	Not detected
Parathyroid gland	0	Not detected
Placenta	2	Medium
Prostate	0	Not detected
Rectum	2	Medium
Salivary gland	2	Medium
Seminal vesicle	2	Medium
Skeletal muscle	0	Not detected
Skin	2	Medium
Small intestine	2	Medium
Smooth muscle	0	Not detected
Soft tissue	0	Not detected
Spleen	0	Not detected
Stomach	2	Medium
Testis	2	Medium
Thyroid gland	2	Medium
Tonsil	1	Low
Urinary bladder	1	Low
Vagina	0	Not detected

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.607	NS	24476821
BRCA	Breast invasive carcinoma	521	5.74e-11	Significant	23000897
COAD	Colon adenocarcinoma	149	0.192	NS	22810696
GBM	Glioblastoma multiforme	157	0.00109	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.000242	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.201	NS	26536169
LGG	Brain Lower Grade Glioma	513	3.78e-09	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.575	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.003	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.143	NS	21720365
PRAD	Prostate adenocarcinoma	333	0.000155	Significant	26544944
READ	Rectum adenocarcinoma	67	0.21	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.000115	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.00871	Significant	25079317
THCA	Thyroid carcinoma	391	0.55	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.66	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	1.102	0.657	NS
BRCA	Breast invasive carcinoma	1079	1.207	0.416	NS
CESC	Cervical and endocervical cancers	291	1.627	0.131	NS
COAD	Colon adenocarcinoma	439	0.818	0.491	NS
ESCA	Esophageal carcinoma	184	0.766	0.394	NS
GBM	Glioblastoma multiforme	158	0.806	0.399	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.926	0.702	NS
KIRC	Kidney renal clear cell carcinoma	531	0.327	3.79e-06	Longer
KIRP	Kidney renal papillary cell carcinoma	287	1.036	0.933	NS
LAML	Acute Myeloid Leukemia	149	0.601	0.0855	NS
LGG	Brain Lower Grade Glioma	511	0.775	0.331	NS
LIHC	Liver hepatocellular carcinoma	365	0.968	0.894	NS
LUAD	Lung adenocarcinoma	502	1.13	0.539	NS
LUSC	Lung squamous cell carcinoma	494	0.893	0.554	NS
OV	Ovarian serous cystadenocarcinoma	303	0.915	0.678	NS
PAAD	Pancreatic adenocarcinoma	177	0.735	0.291	NS
PCPG	Pheochromocytoma and Paraganglioma	179	4.757	0.116	NS
PRAD	Prostate adenocarcinoma	497	2.792	0.26	NS
READ	Rectum adenocarcinoma	159	0.176	0.00437	Longer
SARC	Sarcoma	259	1.447	0.186	NS
SKCM	Skin Cutaneous Melanoma	459	1.124	0.542	NS
STAD	Stomach adenocarcinoma	388	0.656	0.0663	NS
TGCT	Testicular Germ Cell Tumors	134	1.022	0.988	NS
THCA	Thyroid carcinoma	500	2.643	0.382	NS
THYM	Thymoma	119	0.408	0.287	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.564	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	0.035	0.477	NS
BRCA	Breast invasive carcinoma	1071	0.019	0.53	NS
CESC	Cervical and endocervical cancers	167	0.084	0.279	NS
COAD	Colon adenocarcinoma	445	0.023	0.633	NS
ESCA	Esophageal carcinoma	162	-0.08	0.312	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.014	0.775	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.189	1.1e-05	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.039	0.526	NS
LIHC	Liver hepatocellular carcinoma	347	0.106	0.0482	Higher
LUAD	Lung adenocarcinoma	507	0.003	0.943	NS
LUSC	Lung squamous cell carcinoma	497	0.075	0.0928	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.041	0.48	NS
PAAD	Pancreatic adenocarcinoma	176	-0.082	0.279	NS
READ	Rectum adenocarcinoma	156	0.02	0.803	NS
SKCM	Skin Cutaneous Melanoma	410	-0.097	0.0488	Lower
STAD	Stomach adenocarcinoma	392	0.047	0.355	NS
TGCT	Testicular Germ Cell Tumors	81	-0.071	0.528	NS
THCA	Thyroid carcinoma	499	-0.04	0.369	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.007	0.872	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.016	0.792	NS
HNSC	Head and Neck squamous cell carcinoma	498	-0.004	0.931	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.189	1.26e-05	Lower
LGG	Brain Lower Grade Glioma	514	-0.028	0.523	NS
LIHC	Liver hepatocellular carcinoma	366	0.034	0.521	NS
OV	Ovarian serous cystadenocarcinoma	296	0.044	0.454	NS
PAAD	Pancreatic adenocarcinoma	176	-0.081	0.286	NS
STAD	Stomach adenocarcinoma	406	-0.084	0.0924	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.149	0.000537	Higher

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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 [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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 [ TOP ]
There is no record for BPTF.

Summary
Symbol	BPTF
Name	bromodomain PHD finger transcription factor
Aliases	FAC1; NURF301; FALZ; fetal Alzheimer antigen; bromodomain and PHD domain transcription factor; bromodomain a ......
Location	17q24.2
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 [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
26418899	Colorectal Carcinoma	partner	E-cadherin; vimentin	Negative Correlation; Positive Correlation	The last and more interesting Spearman rank correlation analysis and microscopic observation found that the expression of BPTF obviously correlated with the expression of EMT markers vimentin and E-cadherin. The expression levels of BPTF and vimentin in CRC paraffin-embedded specimens were significantly higher than the expression in NATs (P < 0.01), while the expressions of E-cadherin in tumors were obviously lower than in NATs (P < 0.01).
25362514	Hepatocellular Carcinoma	partner	E-cadherin; vimentin	Negative Correlation; Positive Correlation	Additionally, high BPTF expression is correlated with high vimentin expression and low E-cadherin expression (P < 0.05).