EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
25716692The prognostic significance of bromodomain PHD-finger transcription factor in colorectal carcinoma and association with vimentin and E-cadherin.J Cancer Res Clin Oncol2015 AugXiao Sdoi: 10.1007/s00432-015-1937-y
30419422BPTF promotes hepatocellular carcinoma growth by modulating hTERT signaling and cancer stem cell traits.Redox Biol2019 JanZhao Xdoi: 10.1016/j.redox.2018.10.018
30542695Bromodomain PHDfinger transcription factor promotes glioma progression and indicates poor prognosis.Oncol Rep2019 JanPan Ydoi: 10.3892/or.2018.6832
26899553BPTF, a chromatin remodeling-related gene, exhibits frameshift mutations in gastric and colorectal cancers.APMIS2016 MayLee JHdoi: 10.1111/apm.12512
19190132The expression of three genes in primary non-small cell lung cancer is associated with metastatic spread to the brain.Clin Cancer Res2009 Mar 1Grinberg-Rashi Hdoi: 10.1158/1078-0432.CCR-08-2124

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr1767946158Missense_MutationNAH2610Y0.2
BLCAchr1767874903Missense_Mutationrs771413164T583A0.13
BLCAchr1767948228Silentrs782185025F2742F0.23
BLCAchr1767945948Missense_MutationnovelT2540S0.21
BLCAchr1767911130Missense_MutationnovelI1208M0.31
BLCAchr1767911595SilentnovelL1363L0.26
BLCAchr1767912500Missense_MutationnovelS1665L0.26
BLCAchr1767945446SilentNAQ2372Q0.33
BLCAchr1767911627Missense_MutationnovelS1374F0.37
BLCAchr1767912064Missense_MutationNAE1520Q0.23
BLCAchr1767894046Missense_MutationNAI934M0.4
BLCAchr1767912358Missense_MutationNAD1618N0.35
BLCAchr1767874816Splice_SitenovelX554_splice0.43
BLCAchr1767911394SilentnovelV1296V0.52
BLCAchr1767912338Missense_Mutationrs776598623S1611L0.42
BLCAchr1767886310Missense_MutationnovelE746Q0.25
BLCAchr1767854703SilentnovelE459E0.23
BLCAchr1767912925Missense_MutationnovelE1807Q0.51
BLCAchr1767946203Missense_MutationnovelE2625K0.2
BLCAchr1767854557Missense_MutationnovelV411I0.2
BLCAchr1767910975Missense_MutationNAQ1157K0.11
BLCAchr1767909735Missense_MutationnovelS1115L0.23
BLCAchr1767911192Missense_MutationnovelS1229C0.39
BLCAchr1767929468Missense_MutationNAG2170E0.13
BLCAchr1767911381Frame_Shift_InsnovelL1293Vfs*30.07
BLCAchr1767911382In_Frame_InsnovelL1293_D1294insFL0.07
BLCAchr1767911326Missense_MutationnovelL1274F0.11
BLCAchr1767946027Missense_MutationnovelQ2566L0.08
BLCAchr1767922885Missense_MutationnovelR1994Q0.17
BLCAchr1767854431Missense_MutationNAD369N0.18
BLCAchr1767891929Silentrs759197596I776I0.57
BLCAchr1767911821Missense_MutationnovelE1439Q0.67
BLCAchr1767886179Missense_MutationnovelS702F0.38
BLCAchr1767912759SilentnovelV1751V0.2
BLCAchr1767918726SilentnovelQ1898Q0.21
BLCAchr1767982256Missense_Mutationrs782703860H3037D0.28
BLCAchr1767911410Missense_MutationNAE1302K0.74
BRCAchr1767940547Missense_MutationNAS2249L0.19
BRCAchr17679836913'UTRnovel0.2
BRCAchr17679831833'UTRnovel0.09
BRCAchr1767893627SilentnovelG897G0.09
BRCAchr17679834873'UTRnovel0.04
BRCAchr17679824823'UTRnovel0.59
BRCAchr1767909677Missense_MutationNAD1096H0.13
BRCAchr17679825773'UTRnovel0.16
BRCAchr1767854136SilentNAF270F0.14
BRCAchr1767929337Splice_Regionrs759696294G2126G0.44
BRCAchr1767894058SilentnovelQ938Q0.07
BRCAchr1767912105Missense_MutationNAI1533M0.3
BRCAchr1767918814Missense_Mutationrs761085604P1928S0.14
BRCAchr1767912326Missense_MutationNAS1607C0.39
BRCAchr1767929424Missense_MutationNAR2155S0.17
BRCAchr1767931954Missense_MutationNAR2191T0.12
BRCAchr1767920103Missense_MutationnovelR1965S0.12
BRCAchr17679843453'UTRnovel0.08
BRCAchr1767854077Missense_MutationNAE251K0.16
BRCAchr1767918811Missense_MutationNAP1927T0.37
BRCAchr1767911982In_Frame_InsnovelK1492_L1493insKSFPFVLL0.13
BRCAchr1767946260In_Frame_InsnovelQ2644delinsLDLK0.14
BRCAchr1767826311Missense_MutationnovelS196N0.19
BRCAchr1767920100Missense_MutationNAI1964M0.18
CESCchr1767948261SilentnovelL2753L0.4
CESCchr1767911797Missense_MutationNAD1431Y0.18
CESCchr1767981461Intronnovel0.35
CESCchr17679823623'UTRnovel0.48
CESCchr1767911054Nonsense_MutationNAS1183*0.4
CESCchr17679835513'UTRnovel0.19
CESCchr17679826323'UTRnovel0.16
CESCchr1767945477Missense_MutationNAP2383S0.21
CESCchr1767911104Nonsense_MutationnovelE1200*0.11
CESCchr1767911105Missense_MutationnovelE1200A0.11
CESCchr1767911580Missense_MutationnovelK1358N0.14
CESCchr1767891891Missense_MutationnovelP764A0.29
CESCchr1767826266Missense_Mutationrs749305717D181G0.19
CESCchr17679843453'UTRnovel0.12
CESCchr1767918785Missense_MutationNAR1918K0.38
CESCchr1767904798Missense_MutationnovelP1050S0.39
CESCchr1767959574Missense_Mutationrs782539445E2780K0.41
CESCchr1767893692Missense_MutationNAS919L0.16
CESCchr1767904823Missense_MutationnovelR1058K0.1
CESCchr1767875588Missense_Mutationrs139353057V633M0.59
CESCchr1767912574Missense_MutationNAE1690K0.24
CESCchr1767854209Missense_MutationNAL295V0.38
CHOLchr17679840393'UTRnovel0.29
COADchr1767911363Missense_MutationnovelL1286R0.14
COADchr1767959766Frame_Shift_InsnovelD2844Afs*200.08
COADchr1767911458Missense_MutationnovelK1318Q0.09
COADchr1767948163Missense_MutationnovelR2721C0.17
COADchr1767948150Frame_Shift_DelNAK2718Nfs*360.12
COADchr1767911043Missense_MutationNAK1179N0.27
COADchr1767904772Missense_MutationNAH1041L0.53
COADchr1767959754Missense_MutationNAE2840K0.14
COADchr1767945996Missense_MutationnovelP2556S0.35
COADchr1767931916Silentrs773414397I2178I0.25
COADchr17679823383'UTRnovel0.08
COADchr1767946199SilentNAV2623V0.32
COADchr1767912381SilentnovelD1625D0.37
COADchr1767945622Missense_MutationnovelV2431A0.4
COADchr17679825523'UTRnovel0.43
COADchr1767975815SilentNAE2987E0.11
COADchr1767911613SilentNAD1369D0.32
COADchr1767948150Frame_Shift_DelNAK2718Nfs*360.3
COADchr1767826310Missense_MutationnovelS196G0.1
COADchr1767894077Nonsense_MutationNAE945*0.24
COADchr1767894167Splice_SitenovelX974_splice0.1
COADchr1767909738Missense_MutationNAK1116T0.22
COADchr1767947775Missense_MutationnovelS2682N0.11
COADchr1767912072Missense_MutationNAE1522D0.43
COADchr1767892012Missense_MutationNAK804T0.42
COADchr1767894077Nonsense_MutationNAE945*0.42
COADchr1767904724Missense_MutationNAE1025A0.24
COADchr1767853997Missense_MutationnovelI224N0.06
COADchr1767909636Missense_Mutationrs764527892R1082Q0.39
COADchr1767920084Missense_Mutationrs556375365R1959Q0.23
COADchr1767946322Missense_MutationnovelK2664N0.06
COADchr1767946324Missense_MutationnovelQ2665L0.06
COADchr1767946276Missense_Mutationrs782594079R2649H0.14
COADchr1767948150Frame_Shift_DelNAK2718Nfs*360.12
COADchr1767854702Missense_MutationNAE459G0.37
COADchr1767886304Missense_MutationnovelQ744E0.35
DLBCchr1767959787Nonsense_MutationnovelK2851*0.51
ESCAchr1767909590In_Frame_Delrs749412697N1071_E1074del0.38
ESCAchr1767909663Missense_MutationnovelP1091L0.14
ESCAchr1767945870Nonsense_MutationnovelQ2514*0.38
ESCAchr17679842963'UTRrs1176524320.14
GBMchr1767964230SilentnovelD2886D0.76
GBMchr1767854583SilentnovelP419P0.17
GBMchr1767874969Missense_MutationnovelD605Y0.41
GBMchr1767911463SilentnovelV1319V0.26
GBMchr1767911732Missense_MutationnovelS1409Y0.17
GBMchr1767959830Missense_MutationnovelD2865G0.45
GBMchr1767928540SilentNAQ2105Q0.25
GBMchr1767929349SilentnovelV2130V0.2
GBMchr1767894077Nonsense_MutationNAE945*0.12
GBMchr1767944193Missense_MutationnovelQ2300R0.04
GBMchr1767946155Missense_Mutationrs782403455T2609P0.1
GBMchr1767912428Missense_MutationnovelT1641M0.46
GBMchr17679824073'UTRrs5434168750.21
GBMchr1767909685SilentnovelV1098V0.08
GBMchr1767893456SilentNAF840F0.42
GBMchr1767948158Missense_MutationNAR2719Q0.95
GBMchr1767891982Missense_MutationNAQ794L0.5
HNSCchr1767913007Missense_MutationnovelY1834C0.18
HNSCchr1767940439Missense_MutationnovelG2213V0.31
HNSCchr1767893494Missense_MutationnovelN853S0.1
HNSCchr17679823823'UTRnovel0.38
HNSCchr1767911779Nonsense_MutationnovelQ1425*0.13
HNSCchr1767909677Missense_MutationnovelD1096N0.23
HNSCchr1767891942Missense_MutationnovelR781W0.32
HNSCchr1767918818Missense_MutationnovelG1929V0.33
KICHchr1767893414SilentnovelT826T0.04
KICHchr1767964255Missense_MutationNAR2895C0.2
KICHchr1767913175Missense_MutationNAG1890D0.06
KIRCchr1767913012Nonsense_MutationNAK1836*0.37
KIRCchr1767854706In_Frame_InsnovelP460_I461insT0.04
KIRCchr1767854708Frame_Shift_InsnovelI461Mfs*170.04
KIRCchr1767975903Frame_Shift_InsnovelA3017Efs*150.04
KIRCchr1767975905SilentnovelA3017A0.02
KIRCchr1767959588Missense_MutationNAM2784I0.41
KIRCchr1767959589Missense_MutationNAQ2785E0.4
KIRCchr1767964366Missense_MutationNAD2932H0.41
KIRCchr1767854137Missense_MutationnovelC271R0.28
KIRPchr1767912172Missense_MutationnovelR1556G0.28
KIRPchr1767928380Missense_MutationnovelT2052R0.34
KIRPchr1767964394Missense_MutationNAR2941L0.1
KIRPchr1767922965Frame_Shift_InsnovelE2022Gfs*70.63
KIRPchr1767948196Nonsense_MutationnovelQ2732*0.22
KIRPchr1767920067SilentnovelV1953V0.33
LAMLchr1767946257Nonsense_MutationnovelQ2643*0.06
LGGchr1767903792SilentnovelL975L0.06
LGGchr1767945551SilentnovelP2407P0.44
LGGchr1767854569Missense_MutationnovelE415K0.35
LGGchr1767911893Missense_MutationnovelV1463F0.64
LGGchr1767959823Missense_MutationnovelK2863E0.22
LGGchr1767982255SilentnovelS3036S0.53
LGGchr1767903797Missense_MutationNAR977Q0.09
LIHCchr1767866505Missense_MutationnovelY493C0.46
LIHCchr1767924545Splice_SitenovelX2029_splice0.29
LIHCchr1767854753Frame_Shift_InsnovelR476Sfs*210.08
LIHCchr1767826236Missense_MutationNAD171G0.16
LIHCchr1767875575Missense_MutationnovelD628E0.47
LIHCchr1767874856Missense_Mutationrs781047955I567T0.48
LIHCchr1767911635Missense_MutationNAS1377G0.39
LIHCchr1767893519SilentNAA861A0.4
LIHCchr1767909686Missense_MutationnovelK1099E0.26
LIHCchr1767945997Missense_MutationNAP2556L0.18
LIHCchr1767909729Missense_MutationNAD1113G0.16
LIHCchr1767928357Splice_RegionnovelK2044K0.11
LIHCchr1767924552Missense_MutationNAE2031G0.36
LUADchr1767966599Missense_MutationNAE2954Q0.08
LUADchr1767826232Missense_MutationnovelD170N0.12
LUADchr1767944253Missense_MutationnovelQ2320L0.36
LUADchr1767910957Missense_MutationnovelE1151Q0.17
LUADchr1767911580Missense_MutationnovelK1358N0.15
LUADchr1767959857Missense_Mutationrs781919328T2874M0.07
LUADchr1767931916Silentrs773414397I2178I0.14
LUADchr1767911713Missense_MutationnovelG1403R0.61
LUADchr1767928563Missense_MutationNAT2113I0.14
LUADchr1767875628Missense_MutationnovelS646L0.21
LUADchr1767940636Missense_MutationnovelT2279A0.46
LUADchr1767909656Frame_Shift_InsnovelI1089Rfs*70.07
LUADchr1767948171Frame_Shift_InsnovelS2724Wfs*100.06
LUADchr1767893692Missense_MutationNAS919L0.06
LUADchr1767875734Missense_MutationnovelQ681H0.22
LUADchr1767911052Missense_MutationnovelK1182N0.16
LUADchr1767913035SilentnovelK1843K0.07
LUADchr1767910906Missense_MutationnovelD1134N0.14
LUADchr1767886146Missense_MutationnovelC691Y0.1
LUADchr1767875639Missense_MutationnovelS650G0.23
LUADchr1767891875Silentrs576607155G758G0.37
LUADchr1767893444Missense_MutationnovelI836M0.05
LUADchr1767854345Missense_MutationnovelY340S0.17
LUADchr1767948287Missense_MutationNAD2762V0.29
LUADchr1767854602Missense_MutationNAE426K0.08
LUADchr1767854028Missense_MutationNAE234D0.34
LUADchr1767928388Missense_MutationNAA2055T0.12
LUADchr1767913185Missense_MutationNAW1893C0.16
LUADchr1767854739Missense_MutationnovelW471C0.1
LUADchr1767910957Missense_MutationnovelE1151Q0.22
LUADchr1767912609SilentnovelV1701V0.09
LUADchr1767875666Missense_MutationnovelG659W0.32
LUADchr1767894058Missense_MutationnovelQ938H0.13
LUADchr1767975821SilentnovelL2989L0.09
LUADchr1767854745SilentNAL473L0.13
LUADchr1767929465Missense_MutationnovelG2169V0.16
LUADchr1767853970Missense_Mutationrs754887842R215H0.14
LUADchr1767966585Missense_MutationnovelA2949V0.15
LUADchr1767924553Missense_MutationnovelE2031D0.36
LUSCchr1767912043Missense_MutationNAK1513E0.35
LUSCchr1767946149Missense_MutationnovelV2607L0.21
LUSCchr1767911712Missense_MutationNAE1402D0.64
LUSCchr1767909640SilentnovelS1083S0.16
LUSCchr1767959547Missense_MutationNAL2771M0.27
LUSCchr1767854416SilentNAL364L0.16
LUSCchr1767853987Missense_MutationnovelE221Q0.13
LUSCchr1767854733Missense_MutationNAK469N0.27
LUSCchr1767891924Missense_MutationnovelR775G0.24
LUSCchr1767966617Missense_MutationnovelD2960N0.15
LUSCchr1767893596Missense_MutationNAG887E0.27
LUSCchr1767918718Missense_MutationNAR1896G0.27
LUSCchr1767918811Missense_MutationnovelP1927A0.51
LUSCchr1767928464Missense_MutationNAI2080R0.15
LUSCchr1767928401Missense_MutationnovelT2059S0.28
LUSCchr1767903842Missense_MutationNAK992R0.13
LUSCchr1767922876Missense_MutationNAS1991I0.36
LUSCchr1767909649Missense_MutationnovelK1086N0.42
LUSCchr1767912553Missense_MutationnovelL1683V0.05
LUSCchr1767893609Missense_MutationNAW891C0.23
LUSCchr1767929337Splice_Regionrs759696294G2126G0.47
LUSCchr1767940462Missense_MutationnovelQ2221E0.17
OVchr1767904786Missense_MutationNAV1046L0.39
OVchr1767911634Missense_MutationNAK1376N0.46
OVchr1767922988Splice_RegionnovelE2028E0.03
OVchr1767911366Nonsense_MutationnovelY1287*0.05
OVchr1767924571SilentnovelA2037A0.24
OVchr1767924572Missense_MutationnovelV2038L0.24
OVchr1767946026Missense_MutationNAQ2566K0.3
OVchr1767945564Missense_MutationNAQ2412E0.67
OVchr1767893541In_Frame_InsnovelE869delinsDGQRVFSK0.04
OVchr1767911897Missense_MutationnovelS1464F0.11
OVchr1767911899Missense_MutationnovelG1465C0.1
OVchr1767911014Missense_MutationnovelG1170C0.83
PAADchr1767929338Missense_Mutationrs201775041V2127I0.05
PAADchr1767886168SilentnovelA698A0.03
PAADchr1767854434Nonsense_MutationnovelQ370*0.11
PAADchr1767945733Missense_MutationnovelR2468H0.22
PAADchr1767866471Missense_MutationnovelD482Y0.17
PAADchr1767866477Missense_MutationnovelE484K0.16
PAADchr1767909639Missense_MutationnovelS1083N0.19
PAADchr1767911786Missense_MutationnovelS1427N0.12
PAADchr1767928358Nonsense_MutationnovelR2045*0.15
PAADchr1767975804Nonsense_MutationnovelR2984*0.15
PAADchr1767959640Missense_MutationnovelA2802P0.04
PCPGchr1767948298Missense_Mutationrs782100405E2766K0.16
PRADchr1767944321Missense_MutationNAT2343A0.42
PRADchr1767945886Missense_MutationNAS2519L0.06
PRADchr1767911448SilentNAD1314D0.54
PRADchr1767946097SilentnovelV2589V0.47
READchr1767875670Missense_MutationNAC660Y0.31
READchr1767912372Silentrs148696633N1622N0.13
READchr1767909642Frame_Shift_InsNAI1087Nfs*60.25
READchr1767875658Missense_MutationnovelS656N0.48
READchr1767894077Nonsense_MutationNAE945*0.33
READchr1767910961Nonsense_MutationnovelS1152*0.41
READchr1767946114Missense_MutationnovelL2595R0.38
READchr1767912216Missense_MutationnovelN1570K0.22
READchr1767866553Missense_MutationNAK509T0.2
READchr1767893482Missense_MutationNAR849H0.44
READchr1767911530Missense_MutationNAD1342N0.35
READchr1767922883SilentNAL1993L0.29
SARCchr1767946108Missense_MutationnovelI2593S0.09
SARCchr1767922904SilentnovelT2000T0.04
SARCchr1767866555Missense_MutationnovelD510N0.38
SARCchr1767966591Missense_MutationnovelP2951L0.35
SARCchr1767945713Silentrs782112255V2461V0.68
SKCMchr1767854122Missense_Mutationrs765443034R266C0.26
SKCMchr1767913068SilentNAL1854L0.14
SKCMchr1767866647SilentnovelK540K0.11
SKCMchr1767959643Missense_MutationNAP2803S0.42
SKCMchr1767945630Missense_MutationnovelH2434Y0.35
SKCMchr1767913002SilentNAP1832P0.17
SKCMchr1767945835Missense_MutationNAP2502L0.1
SKCMchr1767911377Nonsense_Mutationrs145463211R1291*0.18
SKCMchr1767920083Nonsense_MutationNAR1959*0.28
SKCMchr1767911122Missense_Mutationrs753831908E1206K0.59
SKCMchr1767913159Missense_MutationnovelP1885S0.24
SKCMchr1767913160Missense_MutationnovelP1885L0.25
SKCMchr1767909586SilentNAK1065K0.21
SKCMchr1767931990Missense_MutationNAI2203S0.27
SKCMchr1767911648Missense_MutationNAS1381L0.67
SKCMchr1767912225Silentrs757112658I1573I0.29
SKCMchr1767946273Missense_MutationnovelK2648R0.39
SKCMchr1767893622Missense_MutationNAH896Y0.35
SKCMchr1767826296Missense_MutationNAE191V0.07
SKCMchr1767874960Missense_MutationNAL602F0.63
SKCMchr1767975901Missense_MutationNAC3016F0.51
SKCMchr1767909679Missense_MutationnovelD1096E0.4
SKCMchr1767912796Missense_MutationNAP1764S0.28
SKCMchr1767944309Missense_MutationNAP2339S0.26
SKCMchr1767912620Missense_MutationnovelS1705F0.39
SKCMchr1767918738SilentNAS1902S0.38
SKCMchr1767940487Missense_MutationNAS2229F0.32
SKCMchr1767903823Missense_MutationNAK986E0.21
SKCMchr1767913095SilentnovelI1863I0.12
SKCMchr1767913096Nonsense_MutationNAR1864*0.11
SKCMchr1767975919Missense_MutationnovelS3022L0.41
SKCMchr1767854179Missense_MutationNAE285K0.21
SKCMchr1767911550Missense_MutationNAS1348R0.42
SKCMchr1767912125Missense_MutationNAP1540L0.14
SKCMchr1767975886Missense_MutationNAS3011F0.56
SKCMchr1767948200Missense_MutationNAN2733S0.08
SKCMchr1767894115SilentNAV957V0.24
SKCMchr1767875642Missense_MutationnovelP651S0.23
SKCMchr1767910950Missense_MutationNAM1148I0.16
SKCMchr1767911526SilentNAF1340F0.31
SKCMchr1767918724Nonsense_MutationNAQ1898*0.23
SKCMchr1767854303Nonsense_MutationNAW326*0.14
SKCMchr1767894143Nonsense_MutationNAR967*0.16
SKCMchr1767912875Missense_MutationNAS1790F0.24
SKCMchr1767918835Missense_MutationNAT1935S0.72
SKCMchr1767886297SilentnovelV741V0.2
SKCMchr1767913109Missense_MutationNAY1868F0.1
SKCMchr1767913111Missense_MutationNAF1869L0.1
SKCMchr1767894123Missense_MutationNAV960A0.17
SKCMchr1767912827Missense_MutationNAS1774F0.33
STADchr1767911845Missense_MutationnovelT1447S0.29
STADchr1767945504Missense_MutationnovelA2392T0.08
STADchr1767854675Frame_Shift_DelnovelN452Ifs*220.32
STADchr1767903879SilentNAQ1004Q0.35
STADchr1767903835Frame_Shift_Delrs768059042E993Rfs*160.45
STADchr1767911441Frame_Shift_DelnovelN1313Mfs*30.12
STADchr1767892027Missense_Mutationrs751572182G809D0.39
STADchr1767854189Missense_MutationNAV288A0.22
STADchr1767946079Missense_MutationNAQ2583H0.24
STADchr1767931954Missense_MutationNAR2191T0.26
STADchr1767948198Missense_MutationnovelQ2732H0.37
STADchr1767909589SilentNAN1066N0.29
STADchr1767903835Frame_Shift_Delrs768059042E993Rfs*160.45
STADchr1767948150Frame_Shift_DelNAK2718Nfs*360.4
STADchr1767866511Missense_MutationNAS495T0.49
STADchr1767912470Missense_MutationnovelN1655S0.21
STADchr1767903882Silentrs546466065A1005A0.31
STADchr1767912458Missense_MutationNAS1651I0.39
STADchr1767964394Missense_Mutationrs368469411R2941H0.3
STADchr1767945449Missense_Mutationrs781794996M2373I0.32
STADchr1767945959SilentnovelS2543S0.17
STADchr1767913096Nonsense_MutationNAR1864*0.29
STADchr1767911725Missense_MutationnovelC1407R0.14
STADchr1767944365SilentNAT2357T0.22
STADchr1767913100Missense_MutationNAE1865G0.06
STADchr1767893612Silentrs146795207N892N0.27
STADchr1767904830Silentrs187203989S1060S0.24
STADchr1767928481Missense_MutationNAT2086S0.11
STADchr1767946279Missense_MutationNAE2650G0.06
STADchr1767875644SilentnovelP651P0.25
STADchr1767964390Missense_MutationnovelL2940I0.13
STADchr1767922844Silentrs763992744T1980T0.38
STADchr1767892011Missense_MutationNAK804E0.38
STADchr1767948278Missense_MutationNAL2759P0.18
STADchr1767893483Silentrs763441304R849R0.18
STADchr1767922903Missense_Mutationrs148728817T2000M0.29
STADchr1767854123Missense_Mutationrs773171191R266H0.23
STADchr1767912362Missense_MutationNAA1619V0.26
STADchr1767920060Missense_MutationNAR1951I0.07
TGCTchr1767894077Nonsense_MutationNAE945*0.28
THCAchr1767874912Missense_MutationNAD586H0.08
THCAchr1767945600Nonsense_MutationNAE2424*0.14
THCAchr1767891934Missense_MutationnovelT778N0.11
THCAchr1767948173Frame_Shift_InsnovelS2724Rfs*150.04
THCAchr1767911701Missense_Mutationrs200808758M1399V0.29
UCECchr1767875635Missense_Mutationrs769949554E648D0.3
UCECchr1767891993Missense_Mutationrs149719620A798T0.27
UCECchr1767909636Missense_Mutationrs764527892R1082Q0.28
UCECchr1767911529Silentrs573741875I1341I0.29
UCECchr1767911992Missense_MutationNAR1496G0.35
UCECchr1767959548Missense_MutationNAL2771P0.21
UCECchr1767918719Missense_MutationnovelR1896I0.1
UCECchr1767945430Missense_MutationNAS2367N0.27
UCECchr1767893482Missense_MutationNAR849P0.28
UCECchr1767826329Missense_MutationnovelS202I0.29
UCECchr1767909624Missense_MutationnovelR1078K0.42
UCECchr1767911792Missense_MutationnovelE1429G0.26
UCECchr17679837953'UTRnovel0.33
UCECchr1767854535SilentNAL403L0.11
UCECchr1767912938Missense_Mutationrs567290654R1811Q0.39
UCECchr1767912328Missense_Mutationrs759643114E1608K0.35
UCECchr1767928491Missense_MutationnovelK2089R0.36
UCECchr1767948173Missense_MutationnovelS2724N0.13
UCECchr1767893683Missense_MutationnovelN916S0.46
UCECchr1767911726Missense_MutationNAC1407Y0.35
UCECchr1767892012Missense_MutationNAK804T0.42
UCECchr17679826223'UTRrs5597081340.4
UCECchr17679840243'UTRnovel0.35
UCECchr1767910942Missense_Mutationrs201720584D1146N0.11
UCECchr1767940508Missense_MutationnovelN2236T0.38
UCECchr17679841593'UTRnovel0.22
UCECchr1767892017Nonsense_MutationnovelF806*0.07
UCECchr1767920057Missense_MutationNAR1950M0.27
UCECchr17679825523'UTRnovel0.48
UCECchr1767854064SilentNAV246V0.31
UCECchr1767911768Missense_MutationNAT1421I0.24
UCECchr17679824943'UTRnovel0.34
UCECchr1767911803Missense_MutationnovelI1433L0.2
UCECchr17679843463'UTRnovel0.37
UCECchr1767893625Missense_MutationNAG897R0.49
UCECchr1767945410Splice_RegionNAG2360G0.21
UCECchr1767945724Missense_MutationNAS2465F0.44
UCECchr1767946287Missense_MutationNAL2653I0.8
UCECchr1767948157Missense_MutationNAR2719W0.55
UCECchr1767964255Missense_MutationNAR2895C0.51
UCECchr1767866557Missense_MutationnovelD510E0.29
UCECchr1767911896Frame_Shift_InsnovelS1464Ffs*60.05
UCECchr1767874819Missense_MutationnovelE555K1
UCECchr1767918726Missense_MutationNAQ1898H0.28
UCECchr1767911489Missense_MutationnovelE1328A0.32
UCECchr17679834603'UTRnovel0.1
UCECchr1767912056Missense_MutationnovelE1517G0.31
UCECchr1767854204Missense_MutationnovelA293V0.12
UCECchr1767911686Missense_MutationnovelP1394S0.14
UCECchr1767911116Nonsense_MutationnovelR1204*0.17
UCECchr1767912977Missense_MutationnovelK1824R0.31
UCECchr1767920023Missense_Mutationrs780605303E1939K0.43
UCECchr1767944276Missense_MutationnovelP2328S0.44
UCECchr17679834713'UTRnovel0.34
UCECchr17679839883'UTRnovel0.63
UCECchr1767854387Missense_MutationNAY354F0.35
UCECchr1767886183SilentNAI703I0.36
UCECchr1767964385Missense_MutationnovelR2938M0.98
UCECchr17679825523'UTRnovel0.63
UCECchr1767874880Frame_Shift_DelNAT576Qfs*1410.45
UCECchr17679830863'UTRnovel0.33
UCECchr1767893469Nonsense_MutationnovelE845*0.16
UCECchr1767912516SilentnovelV1670V0.5
UCECchr1767911163Missense_MutationnovelK1219N0.52
UCECchr1767964253Missense_MutationnovelG2894V0.11
UCECchr17679834443'UTRnovel0.36
UCECchr1767975835Missense_MutationNAA2994V0.32
UCECchr1767854213Missense_MutationnovelR296H0.56
UCECchr1767866471Missense_MutationnovelD482Y0.51
UCECchr1767911529Silentrs573741875I1341I0.43
UCECchr1767944219Missense_MutationnovelP2309S0.47
UCECchr1767911463SilentnovelV1319V0.3
UCECchr17679838803'UTRnovel0.47
UCECchr1767909643Frame_Shift_Delrs757520968I1087*0.54
UCECchr1767854375Missense_MutationnovelE350A0.42
UCECchr1767920023Missense_Mutationrs780605303E1939K0.32
UCECchr1767929383Missense_MutationNAT2142A0.34
UCECchr1767940598Missense_MutationnovelP2266L0.4
UCECchr1767911524Missense_MutationnovelF1340V0.46
UCECchr17679830863'UTRnovel0.5
UCECchr17679832823'UTRnovel0.48
UCECchr1767944253Missense_MutationnovelQ2320R0.28
UCECchr1767945929SilentnovelG2533G0.17
UCECchr1767911431Frame_Shift_InsnovelN1309Rfs*130.11
UCECchr1767981446Intronnovel0.4
UCECchr17679843063'UTRnovel0.13
UCECchr1767903835Frame_Shift_Delrs768059042E993Rfs*160.49
UCECchr1767911877Silentrs371084809P1457P0.2
UCECchr1767854049SilentnovelE241E0.25
UCECchr1767929338Missense_Mutationrs201775041V2127I0.42
UCECchr1767946211SilentnovelL2627L0.26
UCECchr1767854400Missense_MutationnovelE358D0.38
UCECchr1767959556Missense_MutationnovelD2774N0.18
UCECchr1767920022Silentrs758887059S1938S0.41
UCECchr17679841593'UTRnovel0.45
UCECchr1767854313SilentnovelV329V0.44
UCECchr1767886179Missense_MutationnovelS702F0.42
UCECchr1767911314Missense_MutationNAD1270Y0.17
UCECchr1767959567Missense_MutationNAI2777M0.34
UCECchr1767975911SilentNAV3019V0.22
UCECchr1767945713Silentrs782112255V2461V0.41
UCECchr17679828213'UTRnovel0.39
UCECchr17679834723'UTRnovel0.29
UCECchr1767946112SilentnovelK2594K0.37
UCECchr1767940656Splice_Regionrs782750355H2285H0.28
UCECchr1767886134Missense_MutationnovelP687H0.29
UCECchr1767893416Missense_MutationNAK827T0.45
UCECchr1767909664SilentNAP1091P0.34
UCECchr1767946130Missense_MutationNAQ2600H0.38
UCECchr1767959766Missense_MutationNAD2844Y0.46
UCECchr1767893483SilentnovelR849R0.26
UCECchr1767964316Missense_MutationnovelC2915Y0.06
UCECchr1767893544Missense_MutationnovelD870Y0.1
UCECchr1767903893Missense_MutationNAK1009T0.25
UCECchr1767912887Missense_MutationNAT1794M0.23
UCECchr1767854038Missense_Mutationrs779611691V238M0.16
UCECchr1767866643Missense_Mutationrs150449990N539S0.15
UCECchr1767874933Missense_MutationnovelN593H0.19
UCECchr1767911378Missense_Mutationrs768837896R1291Q0.21
UCECchr1767912383Missense_Mutationrs781602924S1626N0.28
UCECchr1767918790Missense_MutationnovelD1920N0.35
UCECchr1767932015Missense_MutationnovelQ2211H0.27
UCECchr1767944362SilentnovelT2356T0.46
UCECchr1767948269Missense_MutationnovelR2756K0.17
UCECchr1767948258SilentnovelI2752I0.44
UCECchr17679840273'UTRnovel0.4
UCECchr1767946260Frame_Shift_InsnovelQ2644Lfs*70.07
UCECchr1767854353Missense_Mutationrs200853934V343I0.54
UCECchr1767912272Missense_MutationNAR1589M0.25
UCECchr1767894049Missense_MutationNAK935N0.4
UCECchr1767893548In_Frame_DelNAD872del0.28
UCECchr1767874885Frame_Shift_InsnovelD579Rfs*40.35
UCECchr1767912062Missense_MutationnovelR1519Q0.35
UCECchr17679825873'UTRnovel0.36
UCECchr17679835773'UTRnovel0.49
UCECchr1767875667Missense_MutationnovelG659E0.38
UCECchr1767904803SilentnovelG1051G0.26
UCECchr17679833123'UTRnovel0.48
UCECchr17679837683'UTRnovel0.32
UCECchr17679840923'UTRnovel0.43
UCECchr1767893483Silentrs763441304R849R0.53
UCSchr1767920022Silentrs758887059S1938S0.72

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BLCAAMP0.39220.00012456
COADAMP0.18850.00359
KIRPAMP0.66670.14801
LGGAMP0.06041.52e-05
READAMP0.18790.15915
SARCAMP0.23350.032181
THCADEL0.0020.221
UVMAMP0.16250.054583

Survival Analysis
CancerP-value Q-value
KIRC0.0001

Kaplan-Meier Survival Analysis

SARC0.02

Kaplan-Meier Survival Analysis

COAD0.049

Kaplan-Meier Survival Analysis

PAAD0.04

Kaplan-Meier Survival Analysis

PCPG0.029

Kaplan-Meier Survival Analysis

READ0.0031

Kaplan-Meier Survival Analysis

LAML0.0025

Kaplan-Meier Survival Analysis

LIHC0.016

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000171634 (Gene tree)
Gene ID
2186
Gene Symbol
BPTF
Alias
FAC1|NURF301|FALZ
Full Name
bromodomain PHD finger transcription factor
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
158,855 bases
Position
chr17:67,825,524-67,984,378
Accession
3581
RBP type
non-canonical RBP
Summary
This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & MCF72018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000577770BPTF-209475--- (aa)--
ENST00000582467BPTF-2161015-ENSP00000463776339 (aa)-J3QQK4
ENST00000644067BPTF-21911036XM_005257150ENSP000004961822965 (aa)XP_005257207A0A2R8Y7Q1
ENST00000544778BPTF-2087573-ENSP000004408542457 (aa)-F5GXF5
ENST00000306378BPTF-2019688XM_005257158ENSP000003072082920 (aa)XP_005257215Q12830
ENST00000335221BPTF-2032627-ENSP00000334351810 (aa)-A0A0A0MR81
ENST00000582406BPTF-215378--- (aa)--
ENST00000584931BPTF-218571--- (aa)--
ENST00000577837BPTF-210594-ENSP0000046270364 (aa)-J3KSY0
ENST00000321892BPTF-20211292XM_005257154ENSP000003154543046 (aa)XP_005257211Q12830
ENST00000580465BPTF-2131951-ENSP00000462535484 (aa)-J3KSK9
ENST00000583990BPTF-217464-ENSP0000046373669 (aa)-J3QLW4
ENST00000467104BPTF-206550--- (aa)--
ENST00000424123BPTF-2058295-ENSP000003884052764 (aa)-E7ETD6
ENST00000342579BPTF-20410607XM_005257159ENSP000003438372822 (aa)XP_005257216E9PE19
ENST00000544491BPTF-207409-ENSP00000443949137 (aa)-F5H176
ENST00000579173BPTF-212770--- (aa)--
ENST00000581258BPTF-2141582-ENSP00000463845420 (aa)-J3QQQ8
ENST00000578307BPTF-2112121--- (aa)--
Gene Model
Click here to download ENSG00000171634's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000171634Alcoholism8.97663e-00522978509
ENSG00000171634Alcoholism6.83565e-00522978509
ENSG00000171634Alcoholism8.68089e-00522978509
ENSG00000171634Alcoholism6.71392e-00522978509
ENSG00000171634Alcoholism1.37004e-00522978509
ENSG00000171634Alcoholism3.41477e-00522978509
ENSG00000171634Alcoholism1.61778e-00522978509
ENSG00000171634Alcoholism1.03515e-00522978509
ENSG00000171634Alcoholism9.91355e-00522978509
ENSG00000171634Alcoholism6.38813e-00522978509
ENSG00000171634Alcoholism9.3695e-00522978509
ENSG00000171634Alcoholism6.12785e-00522978509
ENSG00000171634Alcoholism7.67214e-00622978509
ENSG00000171634Alcoholism3.09899e-00522978509
ENSG00000171634Alcoholism8.18644e-00522978509
ENSG00000171634Alcoholism9.36801e-00522978509
ENSG00000171634Alcoholism6.65594e-00522978509
ENSG00000171634Alcoholism3.5341e-00522978509
ENSG00000171634Ankle Brachial Index1.8233524E-005-
ENSG00000171634Platelet Function Tests5.8800000E-006-
ENSG00000171634Platelet Function Tests1.2741000E-005-
ENSG00000171634Lung Neoplasms1.0850000E-005-
ENSG00000171634Lung Neoplasms2.6220000E-005-
ENSG00000171634Lung Neoplasms1.5400000E-005-
ENSG00000171634Lung Neoplasms2.0860000E-005-
ENSG00000171634Adenocarcinoma of lung1.2200000E-005-
ENSG00000171634Adenocarcinoma of lung6.5860000E-006-
ENSG00000171634Adenocarcinoma of lung5.3120000E-006-
ENSG00000171634Adenocarcinoma of lung5.9030000E-006-
ENSG00000171634Adenocarcinoma of lung1.9360000E-005-
ENSG00000171634Adenocarcinoma of lung2E-1227501781
ENSG00000171634Adenocarcinoma of lung7E-1122797724
ENSG00000171634Lung Neoplasms7E-623143601
ENSG00000171634Alcoholism5E-727151647
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000171634rs118700681767948399?Alcohol dependence symptom count27151647[0.14-0.32] unit decrease0.227EFO_0007835
ENSG00000171634rs72160641767902693AEGFR mutation-positive lung adenocarcinoma27501781[1.19-1.35]1.27EFO_0000571
ENSG00000171634rs72160641767902693ALung cancer23143601[1.09-1.25]1.16EFO_0001071
ENSG00000171634rs72160641767902693ALung adenocarcinoma22797724[1.13-1.26]1.2EFO_0000571
ENSG00000171634rs126029121767873957TBody mass index28892062[0.013-0.025] kg/m2 increase0.019EFO_0004340
ENSG00000171634rs47909811767925718GBody mass index28892062[0.016-0.032] kg/m2 increase0.024EFO_0004340
ENSG00000171634rs1488033321767962135CNeutrophil percentage of granulocytes27863252[0.026-0.044] unit increase0.03498489EFO_0007994
ENSG00000171634rs58214461767966423ATEosinophil percentage of granulocytes27863252[0.029-0.046] unit decrease0.03720467EFO_0007996
ENSG00000171634rs604321621767884422CSum eosinophil basophil counts27863252[0.03-0.048] unit increase0.0388262EFO_0005090|EFO_0004842
ENSG00000171634rs1488033321767962135CEosinophil percentage of white cells27863252[0.03-0.047] unit decrease0.03850312EFO_0007991
ENSG00000171634rs604321621767884422CEosinophil counts27863252[0.032-0.05] unit increase0.04065155EFO_0004842
ENSG00000171634rs801359471767839885CHand grip strength29691431[0.0022-0.0038] unit decrease0.003EFO_0006941
ENSG00000171634rs80735101767843094AHand grip strength29691431[0.0022-0.0038] unit increase0.003EFO_0006941
ENSG00000171634rs608569121767896227TEndometrial cancer30093612[1.06-1.15]1.11EFO_1001512
ENSG00000171634rs608569121767896227TEndometrial cancer (endometrioid histology)30093612[1.06-1.17]1.12EFO_1001512
ENSG00000171634rs126029121767873957CBody mass index30108127[NR] unit decrease0.017EFO_0004340
ENSG00000171634rs20800901767832255?Body fat percentage30593698[0.1-0.21] unit increase0.15811EFO_0007800
ENSG00000171634rs20800901767832255?Body fat percentage30593698[0.11-0.25] unit increase0.18015EFO_0007800
ENSG00000171634rs72180141767835900?Body mass index30595370EFO_0004340
ENSG00000171634rs124494421767951524?Macular thickness30535121[0.41-0.75] unit decrease0.577EFO_0008375
ENSG00000171634rs118676181767879471ARisk-taking tendency (4-domain principal component model)30643258[0.014-0.029] unit increase0.021921EFO_0008579
ENSG00000171634rs47912121767979269?Eosinophil counts30595370EFO_0004842
ENSG00000171634rs608569121767896227TSmoking initiation (ever regular vs never regular) (MTAG)30643251[0.0058-0.0116] unit increase0.00872394EFO_0006527
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000171634's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000171634BPTF9489.663ENSMUSG00000040481Bptf9692.058Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000122negative regulation of transcription by RNA polymerase II10727212.IDAProcess
GO:0000790nuclear chromatin27141965.IDAComponent
GO:0001892embryonic placenta development-IEAProcess
GO:0005515protein binding14609955.15640247.21596426.IPIFunction
GO:0005634nucleus10403843.14609955.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005737cytoplasm-IEAComponent
GO:0006338chromatin remodeling14609955.IDAProcess
GO:0006357regulation of transcription by RNA polymerase II10575013.IMPProcess
GO:0007420brain development14609955.IMPProcess
GO:0007492endoderm development-IEAProcess
GO:0008094DNA-dependent ATPase activity14609955.IDAFunction
GO:0008134transcription factor binding10727212.IDAFunction
GO:0009952anterior/posterior pattern specification-IEAProcess
GO:0016589NURF complex20850016.IDAComponent
GO:0035064methylated histone binding-IEAFunction
GO:0043565sequence-specific DNA binding10403843.IDAFunction
GO:0043565sequence-specific DNA binding10575013.IMPFunction
GO:0045944positive regulation of transcription by RNA polymerase II14609955.IMPProcess
GO:0046872metal ion binding-IEAFunction
GO:0048188Set1C/COMPASS complex27141965.IDAComponent
GO:0070062extracellular exosome18570454.HDAComponent
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