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

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr191324743Missense_MutationnovelY787H0.46
ACCchr191261326Missense_MutationnovelM1424I0.12
ACCchr191401053SilentnovelS10S0.52
BLCAchr191313381Missense_MutationNAS1120L0.05
BLCAchr191319362Missense_MutationNAP871S0.23
BLCAchr191313381Nonsense_MutationnovelS1120*0.25
BLCAchr191319357Missense_MutationNAI872M0.61
BLCAchr191315814Splice_Siters762180649X1047_splice0.12
BLCAchr191313427Missense_MutationNAT1105A0.42
BLCAchr191352589Missense_MutationnovelT632A0.46
BLCAchr191316145Nonsense_MutationnovelE980*0.35
BLCAchr191323191SilentnovelL812L0.09
BLCAchr191315928In_Frame_InsnovelV1009_I1010insEFFFYS0.2
BLCAchr191394211Missense_MutationnovelQ126E0.5
BLCAchr191385751Missense_Mutationrs757823691I193T0.36
BLCAchr191352591Missense_MutationnovelS631C0.14
BLCAchr191319107Missense_MutationNAL928P0.82
BLCAchr191262206Intronnovel0.4
BLCAchr191347434Nonsense_MutationnovelL750*0.05
BLCAchr191274804Missense_MutationnovelQ1198H0.23
BLCAchr191313987Missense_MutationnovelL1072V0.22
BLCAchr191313420Missense_Mutationrs773217064Q1107R0.28
BLCAchr191277037SilentnovelG1139G0.16
BLCAchr191267823Nonsense_MutationnovelE1269*0.46
BLCAchr191319134Missense_MutationnovelF919S0.19
BRCAchr191323199Missense_MutationNAV810F0.19
BRCAchr191394188SilentnovelG133G0.25
BRCAchr191394277Missense_MutationNAL104V0.25
BRCAchr191262292Missense_MutationnovelK1396T0.08
BRCAchr1912611943'UTRrs798680490.22
BRCAchr191262250Missense_MutationNAV1410A0.35
BRCAchr191274799Frame_Shift_InsnovelN1200Ifs*290.05
BRCAchr191274800In_Frame_InsnovelM1199_N1200insCNFR0.05
BRCAchr191323131Frame_Shift_InsnovelN833Afs*240.04
BRCAchr191324747SilentnovelA785A0.07
CESCchr191352536SilentnovelL649L0.21
CESCchr191324757Missense_MutationNAR782K0.47
CESCchr191315944Missense_MutationnovelE1004A0.41
CESCchr191353120Missense_MutationnovelA588T0.08
CESCchr191347445SilentnovelI746I0.14
CESCchr191262325Missense_MutationNAS1385F0.29
CESCchr191385689Nonsense_MutationNAQ214*0.31
CESCchr191277021Missense_MutationNAH1145Y0.2
CESCchr191313417Missense_MutationNAR1108T0.26
CESCchr191385772Missense_Mutationrs775085469S186F0.54
CESCchr191375663Missense_MutationnovelR487I0.1
CESCchr191385665Missense_MutationnovelA222T0.28
CESCchr191379171Nonsense_MutationNAW350*0.17ResIII
CESCchr191394372Missense_MutationNAS72L0.25
CESCchr191319353Missense_MutationNAD874H0.28
CESCchr191267747Missense_MutationnovelS1294L0.19
CESCchr191394316Nonsense_MutationNAQ91*0.33
COADchr191261303Missense_MutationNAD1432G0.29
COADchr191319324Missense_MutationNAK883N0.46
COADchr191377942Intronnovel0.42
COADchr191379134Nonsense_MutationNAE363*0.3ResIII
COADchr191315814Splice_Siters762180649X1047_splice0.29
COADchr191313357Missense_MutationnovelP1128H0.24
COADchr191277016SilentnovelL1146L0.23
COADchr1912611303'UTRnovel0.21
COADchr191314004Missense_MutationnovelA1066V0.07
COADchr191350846Missense_MutationnovelL700V0.2
COADchr191385655Missense_MutationnovelA225V0.23
COADchr191375728Splice_SiteNAX466_splice0.13
COADchr191379134Nonsense_MutationNAE363*0.27ResIII
COADchr191377718Intronnovel0.14
COADchr191347452Missense_MutationNAD744G0.27
COADchr191262290Frame_Shift_InsNAV1397Sfs*60.31
COADchr191377936Intronnovel0.23
COADchr191262316Frame_Shift_DelNAN1388Tfs*370.26
COADchr191347464Missense_MutationNAG740E0.36
COADchr191377944Intronnovel0.28
COADchr191324688Missense_MutationNAT805I0.36
COADchr191378089Missense_MutationNAN444T0.29ResIII
COADchr191319342SilentnovelL877L0.32
COADchr191378066SilentNAR452R0.31
COADchr191277043Frame_Shift_DelNAK1137Nfs*440.18
COADchr191380125SilentnovelL329L0.14
COADchr191380918SilentnovelF289F0.22
COADchr191324723SilentNAT793T0.26
COADchr191385799Missense_MutationNAA177V0.26
COADchr191313411Missense_Mutationrs768642836S1110Y0.19
COADchr191319362Missense_MutationNAP871S0.09
COADchr191323106Missense_Mutationrs775049733R841W0.2
COADchr191394170Missense_MutationNAE139D0.1
COADchr1912610063'UTRnovel0.39
COADchr191343482Missense_MutationNAL761F0.28
COADchr191380909Splice_Regionnovel0.38
COADchr191394182Missense_MutationNAE135D0.34
COADchr191350750Missense_MutationNAP732T0.32
COADchr1912611833'UTRnovel0.18
COADchr191316180Missense_MutationNAL968S0.15
COADchr191319351SilentnovelD874D0.06
COADchr191377919Intronnovel0.34
COADchr191277045Frame_Shift_InsnovelK1137Hfs*40.1
COADchr191315962Nonsense_MutationnovelY998delinsLR*H0.05
COADchr191322998Splice_SitenovelX845_splice0.43
COADchr1912610283'UTRnovel0.3
ESCAchr191262362SilentnovelL1373L0.3
ESCAchr191313478Missense_MutationnovelQ1088K0.21
ESCAchr191350857Missense_MutationnovelL696R0.19
ESCAchr191315815Missense_Mutationrs754765102T1047M0.41
GBMchr191375429SilentNAK538K0.47
GBMchr191394093Missense_MutationnovelR165I0.19
GBMchr191378100SilentNAQ440Q0.57
GBMchr191273799Missense_MutationNAI1229V0.46
GBMchr191316145Nonsense_MutationnovelE980*0.2
GBMchr191378414Missense_MutationnovelL409I0.11ResIII
GBMchr191274771SilentNAE1209E0.36
GBMchr191319314Missense_MutationNAH887Y0.15
HNSCchr191316476Missense_MutationnovelG938V0.15
HNSCchr191262315Missense_MutationnovelN1388K0.37
HNSCchr191266061SilentnovelP1310P0.24
HNSCchr191385226Missense_MutationNAE255K0.28
HNSCchr191315849Missense_Mutationrs377647325A1036S0.17
HNSCchr191315850Missense_MutationnovelD1035E0.16
HNSCchr191380123Missense_MutationnovelL329F0.13ResIII
HNSCchr191352579Missense_MutationnovelY635C0.16
HNSCchr191375626Frame_Shift_DelnovelC500Afs*120.16
HNSCchr191262325Missense_Mutationrs190831701S1385C0.21
HNSCchr191262323Missense_MutationnovelE1386K0.14
HNSCchr191262576Missense_MutationnovelE1331Q0.11
HNSCchr191380949Missense_MutationnovelP279Q0.14
HNSCchr191396305Missense_MutationnovelH58Y0.21
HNSCchr191324728Missense_Mutationrs772600370E792Q0.16
HNSCchr191378137Missense_MutationnovelV428A0.55ResIII
HNSCchr191316409Missense_MutationnovelD960E0.28
HNSCchr191396385Nonsense_MutationnovelS31*0.34
HNSCchr191262538SilentNAP1343P0.17
HNSCchr191353078Missense_MutationnovelF602L0.26
HNSCchr191347473Missense_MutationnovelF737S0.18
HNSCchr191385835Splice_SitenovelX165_splice0.07
HNSCchr191315960Missense_MutationnovelS999C0.18
HNSCchr191351640Missense_MutationnovelD661N0.19
KICHchr191343508Splice_RegionnovelL753L0.2
KIRCchr191319122Missense_MutationNAL923R0.23
KIRCchr191353129Missense_MutationnovelY585H0.19
KIRCchr191375586Missense_MutationNAL513F0.04
KIRPchr191277030Missense_MutationNAE1142Q0.36
LGGchr191266108Splice_SitenovelX1295_splice0.08
LGGchr191375663Missense_MutationnovelR487I0.55
LGGchr191316422Frame_Shift_InsNAI956Nfs*100.63
LGGchr191352563SilentNAF640F0.15
LIHCchr191394315Missense_MutationNAQ91L0.42
LIHCchr191378044Missense_MutationnovelT459R0.24ResIII
LIHCchr1912609993'UTRnovel0.24
LIHCchr191319372SilentNAL867L0.17
LIHCchr191375536SilentnovelP529P0.2
LIHCchr191319365Missense_MutationnovelI870V0.24
LIHCchr191319178Missense_MutationNAK904N0.44
LIHCchr191315815Missense_Mutationrs754765102T1047M0.42
LUADchr191315897Missense_MutationnovelK1020E0.49
LUADchr191351595Missense_MutationnovelD676H0.66
LUADchr191394220Missense_MutationNAY123H0.14
LUADchr191324700Missense_MutationNAS801N0.1
LUADchr191401080Translation_Start_SiteNAM1?0.26
LUADchr191375391Missense_MutationnovelA551D0.08
LUADchr191352533SilentnovelQ650Q0.26
LUADchr191313464SilentnovelV1092V0.15
LUADchr191375583Frame_Shift_DelnovelN514Lfs*120.25
LUADchr191378077Missense_MutationnovelA448G0.23ResIII
LUADchr191319203Missense_MutationnovelS896L0.12
LUADchr191276669Missense_MutationNAR1183W0.17
LUADchr191380233Missense_MutationnovelL293V0.26ResIII
LUADchr191262588Nonsense_MutationnovelF1326_V1327insKK*QSLK0.07
LUADchr191379142Missense_MutationnovelN360I0.22ResIII
LUADchr191380124Nonsense_MutationnovelL329*0.13ResIII
LUADchr191267784Missense_MutationnovelT1282A0.18
LUADchr191273742Missense_MutationNAR1248G0.23
LUADchr191394235Missense_MutationnovelA118P0.49
LUADchr191319292Splice_SiteNAX894_splice0.23
LUADchr191378482Splice_SiteNAX387_splice0.21
LUADchr191394243Nonsense_MutationnovelS115*0.24
LUADchr191316459Missense_MutationnovelA944T0.23
LUADchr191267738Splice_SitenovelX1293_splice0.14
LUADchr191262568SilentNAS1333S0.2
LUADchr191316148Missense_MutationNAK979E0.12
LUADchr191375673Missense_MutationNAE484K0.19
LUADchr191313436In_Frame_InsnovelG1101_N1102insLYTI0.09
LUADchr191319118Missense_MutationNAW924C0.37
LUADchr191401063Missense_MutationnovelC7S0.24
LUADchr191385804SilentnovelG175G0.16
LUADchr191378408Missense_MutationnovelD411H0.07ResIII
LUADchr191385227SilentNAT254T0.38
LUADchr191385729SilentNAK200K0.46
LUADchr191314017Missense_MutationNAA1062S0.1
LUADchr191313399Missense_MutationnovelI1114T0.17
LUADchr191323180Missense_MutationNAC816F0.09
LUADchr191379063Splice_RegionNAP386P0.08
LUADchr191350823SilentNAH707H0.09
LUADchr191315947Missense_MutationnovelA1003E0.1
LUADchr191350766SilentnovelI726I0.15
LUADchr191276713Missense_MutationNAI1168T0.21
LUSCchr191313381Missense_MutationNAS1120L0.29
LUSCchr191315815Missense_MutationnovelT1047K0.22
LUSCchr191352636Missense_MutationnovelL616S0.24
LUSCchr191385818Missense_MutationnovelD171Y0.16
LUSCchr191324680Missense_MutationnovelD808H0.19
LUSCchr191352617Frame_Shift_InsnovelL622Ffs*200.21
LUSCchr191394173SilentNAP138P0.3
LUSCchr191315952SilentNAT1001T0.39
LUSCchr191274786SilentNAS1204S0.65
LUSCchr191315949SilentnovelT1002T0.17
LUSCchr191262315Frame_Shift_InsnovelN1390Kfs*60.31
LUSCchr191394264Missense_MutationnovelG108E0.3
LUSCchr191313469Missense_MutationNAT1091A0.2
LUSCchr191319306SilentnovelS889S0.17
LUSCchr191379083Missense_MutationNAH380N0.52ResIII
LUSCchr191378432Nonsense_MutationNAQ403*0.23ResIII
LUSCchr191314054SilentnovelS1049S0.35
LUSCchr191385216Missense_Mutationrs753477544L258S0.28
LUSCchr191267843Missense_MutationnovelV1262E0.36
LUSCchr191352547Missense_MutationNAT646S0.13
LUSCchr191262495Nonsense_MutationnovelG1358*0.22
LUSCchr191375649Nonsense_MutationnovelQ492*0.09
LUSCchr191350819Missense_MutationnovelI709F0.15
LUSCchr191385664Missense_MutationnovelA222E0.26
LUSCchr191350798Missense_MutationNAV716L0.25
LUSCchr191313448Nonsense_MutationnovelK1098*0.16
LUSCchr191267833SilentnovelE1265E0.55
LUSCchr191377998Intronnovel0.06
LUSCchr191266060Missense_MutationnovelL1311F0.16
LUSCchr191380164Missense_MutationnovelA316S0.24ResIII
LUSCchr191313489Missense_MutationnovelL1084H0.17
OVchr191315899Missense_MutationnovelT1019I0.12
OVchr191343470SilentNAD765D0.6
OVchr191315922Silentrs138444412L1011L0.47
OVchr191266108Splice_Siters756777150X1295_splice0.37
OVchr191323175Missense_MutationnovelE818K0.09
OVchr191262279Frame_Shift_Delrs774112248F1400Lfs*250.44
OVchr191274747SilentnovelS1217S0.34
PAADchr191273749SilentnovelG1245G0.09
PAADchr191262290Frame_Shift_InsNAV1397Sfs*60.1
PAADchr191315965Missense_MutationnovelR997I0.19
PAADchr191375616Missense_MutationnovelN503D0.25
PCPGchr191401024Missense_MutationnovelD20G0.27
PRADchr191385695Missense_MutationNAK212E0.14
PRADchr191394167Missense_MutationNAK140N0.23
PRADchr191316402Nonsense_MutationNAE963*0.07
PRADchr191380982Missense_Mutationrs146051438P268L0.11
PRADchr191380928Missense_MutationnovelS286F0.16ResIII
PRADchr191380929Missense_MutationnovelS286A0.15ResIII
PRADchr191353141Missense_MutationNAD581H0.25
PRADchr191394230SilentnovelG119G0.12
READchr1912610813'UTRnovel0.19
READchr191385605Frame_Shift_DelNAS242Qfs*120.38
READchr191353102Missense_MutationNAD594Y0.08
READchr191377988Intronnovel0.05
READchr191315850Silentrs748543481D1035D0.12
READchr191315915Missense_MutationNAF1014V0.19
READchr191353148SilentNAI578I0.25
READchr191394322Missense_MutationnovelK89Q0.07
READchr191266054Nonsense_MutationNAE1313*0.37
READchr191319353Missense_MutationNAD874N0.41
READchr191377750Intronnovel0.45
READchr191379107Missense_MutationnovelD372Y0.41ResIII
READchr191401058Missense_MutationnovelF9L0.5
READchr191315950Missense_Mutationrs148381777T1002M0.24
READchr191262281Missense_MutationNAF1400V0.37
READchr191385658Missense_MutationnovelN224T0.31
SARCchr1912612713'UTRnovel0.45
SKCMchr191350746Missense_MutationNAS733F0.29
SKCMchr191274751Missense_MutationnovelP1216L0.25
SKCMchr191323106Missense_Mutationrs775049733R841W0.18
SKCMchr191385209SilentnovelS260S0.12
SKCMchr191350791Nonsense_MutationNAW718*0.34
SKCMchr191262584Missense_MutationNAS1328L0.21
SKCMchr191385689Nonsense_MutationNAQ214*0.3
SKCMchr191379064Missense_MutationNAP386L0.42ResIII
SKCMchr191375432SilentnovelR537R0.88
SKCMchr191313436In_Frame_InsnovelG1101_N1102insYTI0.12
SKCMchr191378165Missense_MutationNAE419K0.3ResIII
SKCMchr191380949Missense_MutationnovelP279L0.27
SKCMchr191396323Missense_Mutationrs373281770E52K0.56
SKCMchr191319201Missense_MutationnovelD897N0.26
SKCMchr191314012SilentNAV1063V0.07
SKCMchr191322988Missense_MutationNAM848I0.38
SKCMchr191319161Missense_MutationNAL910S0.28
SKCMchr191380219SilentNAR297R0.29
SKCMchr191375586Missense_MutationNAL513F0.44
SKCMchr191375587Silentrs775555716T512T0.45
SKCMchr191378124Missense_MutationNAM432I0.57ResIII
SKCMchr191319088SilentNAL934L0.42
SKCMchr191385776Missense_MutationNAD185Y0.53
SKCMchr191394303Missense_MutationNAP95L0.24
SKCMchr191274773Missense_MutationNAE1209K0.18
SKCMchr191313496Splice_Siters756865479X1082_splice0.1
SKCMchr191378165Missense_MutationNAE419K0.36ResIII
SKCMchr191316160Missense_MutationNAG975R0.17
SKCMchr191375715Missense_MutationNAL470F0.53
SKCMchr191353111Missense_MutationNAE591K0.2
SKCMchr191262383Nonsense_MutationNAQ1366*0.14
SKCMchr191323153Missense_MutationnovelR825K0.12
SKCMchr191380950Missense_MutationNAP279S0.06
SKCMchr191385187Missense_Mutationrs199692136P268S0.67
SKCMchr191385187Missense_Mutationrs199692136P268S0.17
SKCMchr191316169Missense_Mutationrs779478584P972S0.24
SKCMchr191274758Missense_MutationnovelP1214S0.71
SKCMchr191378159Missense_Mutationrs756063767R421C0.76ResIII
SKCMchr191394317SilentNAF90F0.51
SKCMchr191375677Missense_MutationnovelM482I0.38
SKCMchr191396317Missense_MutationNAE54K0.17
STADchr191385823Missense_MutationnovelI169T0.18
STADchr191394175Missense_MutationNAP138T0.28
STADchr191316422Frame_Shift_InsNAI956Nfs*100.25
STADchr191319188Missense_MutationNAA901V0.09
STADchr191262495Nonsense_MutationnovelG1358*0.4
STADchr191316423Frame_Shift_DelNAI956*0.34
STADchr191262279Frame_Shift_Delrs774112248F1400Lfs*250.33
STADchr191266064SilentnovelL1309L0.31
STADchr191378423Nonsense_Mutationrs780481996R406*0.45ResIII
STADchr191379184Missense_Mutationrs766605643R346H0.39ResIII
STADchr191385210Missense_MutationNAS260F0.24
STADchr191380181Frame_Shift_InsnovelT310Nfs*50.44ResIII
STADchr191385780Missense_MutationnovelE183D0.09
STADchr191262588Nonsense_MutationnovelV1327Nfs*40.1
STADchr191314012SilentNAV1063V0.07
STADchr191350823SilentNAH707H0.15
STADchr191380919Missense_MutationNAF289C0.23ResIII
STADchr191262316Frame_Shift_DelNAN1388Tfs*370.37
STADchr191319321Missense_MutationNAI884M0.1
STADchr191323105Missense_Mutationrs769258836R841Q0.38
STADchr191377943IntronNA0.22
STADchr191350745SilentnovelS733S0.46
STADchr191315855Missense_MutationNAG1034S0.21
STADchr191378159Missense_Mutationrs756063767R421C0.25ResIII
STADchr191351551Splice_RegionnovelS690S0.35
STADchr191385605Frame_Shift_DelNAS242Qfs*120.23
STADchr191351633Missense_MutationNAT663R0.49
STADchr191385621Missense_MutationNAF236L0.18
STADchr191385668Missense_MutationNAT221A0.17
STADchr191319291Splice_SiteNAX894_splice0.67
STADchr191350857Missense_MutationnovelL696R0.19
STADchr191353134Missense_MutationNAA583D0.22
STADchr191378467Missense_MutationNAS391N0.08ResIII
STADchr191262278Frame_Shift_Insrs766204131I1401Yfs*20.48
THCAchr191267772Missense_MutationNAT1286A0.07
UCECchr1912612323'UTRnovel0.33
UCECchr191394370Missense_MutationNAN73H0.31
UCECchr191262290Frame_Shift_InsNAV1397Sfs*60.31
UCECchr191315952SilentNAT1001T0.26
UCECchr191315850Silentrs748543481D1035D0.32
UCECchr191343433Missense_MutationnovelT778A0.34
UCECchr191276724Missense_MutationNAQ1164H0.15
UCECchr191322966Nonsense_MutationNAE856*0.33
UCECchr191401066Missense_MutationNAD6A0.49
UCECchr191313463Missense_MutationnovelF1093L0.29
UCECchr191375628Missense_MutationNAP499S0.37
UCECchr191396293Missense_MutationnovelG62S0.42
UCECchr191377827Intronnovel0.4
UCECchr191379134Nonsense_MutationNAE363*0.4ResIII
UCECchr191315950Missense_Mutationrs148381777T1002M0.55
UCECchr191276688Nonsense_MutationnovelY1176*0.5
UCECchr191262200Intronnovel0.35
UCECchr191319161Missense_MutationNAL910S0.41
UCECchr191351610Nonsense_MutationNAR671*0.4
UCECchr191394320Missense_MutationnovelK89N0.33
UCECchr191315952SilentNAT1001T0.58
UCECchr191385709Missense_MutationnovelS207I0.4
UCECchr1912612553'UTRnovel0.22
UCECchr191385649Missense_MutationnovelS227Y0.24
UCECchr191377945Intronnovel0.5
UCECchr191262279Frame_Shift_Delrs774112248F1400Lfs*250.21
UCECchr191319175SilentNAK905K0.16
UCECchr191262208Intronnovel0.19
UCECchr191347468Missense_MutationNAS739P0.43
UCECchr191277021Missense_MutationnovelH1145N0.55
UCECchr191266046Missense_MutationNAK1315N0.05
UCECchr191351552Missense_MutationNAS690N0.41
UCECchr191394249Missense_MutationNAD113G0.31
UCECchr1912612613'UTRnovel0.32
UCECchr191266044Missense_MutationnovelS1316N0.38
UCECchr191267842SilentnovelV1262V0.3
UCECchr191353111Nonsense_MutationnovelE591*0.38
UCECchr191394385Missense_MutationnovelK68Q0.33
UCECchr191313995Missense_MutationnovelS1069Y0.1
UCECchr191343511Splice_SitenovelX752_splice0.15
UCECchr191375525Splice_SitenovelX532_splice0.46
UCECchr191380956Missense_MutationnovelE277K0.37
UCECchr191319163SilentnovelL909L0.43
UCECchr191343482Silentrs373375435L761L0.29
UCECchr191385684SilentnovelY215Y0.32
UCECchr191315949Silentrs773788286T1002T0.45
UCECchr191316403Missense_MutationnovelR962S0.31
UCECchr191262279Frame_Shift_Delrs774112248F1400Lfs*250.35
UCECchr191316145Nonsense_MutationnovelE980*0.44
UCECchr191319183Nonsense_Mutationrs754243616E903*0.12
UCECchr1912611733'UTRnovel0.43
UCECchr191273709Splice_Regionnovel0.32
UCECchr191394362Missense_MutationnovelK75N0.37
UCECchr191315867Missense_MutationnovelT1030A0.42
UCECchr191350750Missense_MutationNAP732S0.12
UCECchr191350843Missense_MutationnovelN701D0.12
UCECchr191313990Missense_MutationnovelD1071Y0.44
UCECchr191378168Missense_MutationnovelD418Y0.26ResIII
UCECchr1912612213'UTRnovel0.46
UCECchr191315884Missense_MutationnovelS1024L0.22
UCECchr191322980Missense_MutationNAR851I0.28
UCECchr1912612173'UTRnovel0.5
UCECchr191316145Nonsense_MutationnovelE980*0.36
UCECchr191343463Missense_MutationnovelK768Q0.37
UCECchr191267782SilentnovelT1282T0.31
UCECchr191316389Splice_SitenovelX966_splice0.41
UCECchr191401058Missense_MutationnovelF9L0.39
UCECchr191315855Missense_MutationNAG1034S0.29
UCECchr191262255Missense_MutationnovelK1408N0.16
UCECchr191313465Missense_MutationnovelV1092G0.15
UCECchr191380148Nonsense_MutationnovelL321*0.12ResIII
UCECchr191315943Missense_MutationnovelE1004D0.39
UCECchr191343486Missense_MutationnovelD760G0.39
UCECchr191350785Missense_Mutationrs200189845R720Q0.35
UCECchr191379205Missense_MutationnovelI339T0.37ResIII
UCECchr191385187Missense_Mutationrs199692136P268S0.5
UCECchr191394219Missense_Mutationrs772496665Y123C0.26
UCECchr1912612893'UTRnovel0.36
UCECchr191262206Intronnovel0.64
UCECchr191276724SilentnovelQ1164Q0.34
UCECchr191352538Missense_MutationnovelL649I0.45
UCECchr191385676Missense_MutationnovelN218T0.32
UCECchr1912612483'UTRnovel0.35
UCECchr191316453Missense_Mutationrs368172224V946I0.25
UCECchr191319083Missense_MutationNAK936R0.43
UCECchr191322980Missense_MutationNAR851I0.34
UCECchr191323140Missense_Mutationrs200685742K829N0.19
UCECchr1912612323'UTRnovel0.15
UCECchr191319122Missense_MutationNAL923R0.15
UCECchr191375728Splice_SiteNAX466_splice0.15
UCECchr191315850Silentrs748543481D1035D0.46
UCECchr191350762Missense_MutationnovelA728S0.33
UCECchr191375613Nonsense_MutationnovelQ504*0.18
UCECchr191378148SilentnovelT424T0.3
UCECchr191394346Missense_MutationnovelT81A0.31
UCECchr191262279Frame_Shift_Delrs774112248F1400Lfs*250.38
UCECchr191262286Frame_Shift_DelnovelD1398Vfs*270.28
UCECchr191262290Frame_Shift_InsNAV1397Sfs*60.29
UCECchr191378116Missense_MutationNAV435A0.4ResIII
UCECchr191266051Missense_MutationNAS1314A0.33
UCECchr191267793Missense_MutationNAL1279V0.42
UCECchr191324759SilentNAG781G0.42
UCECchr191343497Missense_MutationNAK756N0.33
UCECchr191352505Splice_SiteNAX659_splice0.63
UCECchr191379134Nonsense_MutationNAE363*0.4ResIII
UCECchr191380956Nonsense_MutationNAE277*0.32
UCECchr191313983Missense_MutationNAS1073N0.42
UCECchr191396349Nonsense_MutationNAS43*0.42
UCECchr191276695Missense_Mutationrs751599543S1174Y0.06
UCECchr191319084Missense_MutationnovelK936Q0.06
UCECchr191266046Missense_MutationNAK1315N0.28
UCECchr191323144Missense_MutationNAE828A0.33
UCECchr191324767Splice_SitenovelX779_splice0.21
UCECchr191378112SilentnovelQ436Q0.07
UCECchr191262274Missense_MutationnovelR1402I0.37
UCECchr191375669Missense_MutationnovelS485I0.56
UCECchr191262337Missense_MutationnovelC1381Y0.2
UCECchr191273811Nonsense_MutationnovelE1225*0.32
UCECchr191350762Missense_MutationnovelA728T0.38
UCSchr191380172Missense_MutationnovelF313S0.38ResIII
UCSchr191313995Missense_MutationnovelS1069C0.06

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BRCADEL0.27225.7821e-10
CESCDEL0.07460.01281
COADDEL0.23730.00038973
MESODEL0.41385.9874e-12
PRADDEL0.09960.0061054
SKCMDEL0.22349.7877e-07
STADDEL0.17230.0040659
TGCTAMP0.180.088103

Survival Analysis
CancerP-value Q-value
KIRC0.0017

Kaplan-Meier Survival Analysis

STAD0.0085

Kaplan-Meier Survival Analysis

SARC0.036

Kaplan-Meier Survival Analysis

MESO0.038

Kaplan-Meier Survival Analysis

UCS0.005

Kaplan-Meier Survival Analysis

SKCM0.011

Kaplan-Meier Survival Analysis

BRCA0.017

Kaplan-Meier Survival Analysis

PAAD0.00013

Kaplan-Meier Survival Analysis

UCEC0.00083

Kaplan-Meier Survival Analysis

GBM0.02

Kaplan-Meier Survival Analysis

LIHC0.049

Kaplan-Meier Survival Analysis

THCA0.027

Kaplan-Meier Survival Analysis

  • Description
  • RBDs
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000162669 (Gene tree)
Gene ID
164045
Gene Symbol
HFM1
Alias
MER3|FLJ39011|FLJ36760|SEC63D1
Full Name
helicase for meiosis 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
147,242 bases
Position
chr1:91,260,766-91,408,007
Accession
20193
RBP type
canonical RBP
Summary
The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP00000359454ResIIIPF04851.152.8e-1111
ENSP00000359454DEADPF00270.297.9e-2511
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000455133HFM1-205596-ENSP00000409827138 (aa)-C9JQP7
ENST00000427444HFM1-202672-ENSP00000388900196 (aa)-C9JQ07
ENST00000488023HFM1-2081699--- (aa)--
ENST00000430465HFM1-2031928XM_017000493ENSP00000387661625 (aa)XP_016855982H0Y3X7
ENST00000497520HFM1-209383--- (aa)--
ENST00000481900HFM1-2072020--- (aa)--
ENST00000462405HFM1-2062667--- (aa)--
ENST00000448819HFM1-204540-ENSP00000397369151 (aa)-C9JA44
ENST00000370425HFM1-2014931XM_011540849ENSP000003594541435 (aa)XP_011539151A2PYH4
Gene Model
Click here to download ENSG00000162669's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000162669Personality3.512e-005-
ENSG00000162669Ankle Brachial Index8.7274663E-005-
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000162669rs10801851191281449?Red cell distribution width30595370EFO_0005192
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000162669's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000162669HFM16465.192ENSAPOG00000005304hfm110065.192Acanthochromis_polyacanthus
ENSG00000162669HFM110086.518ENSAMEG00000000432HFM110086.518Ailuropoda_melanoleuca
ENSG00000162669HFM17060.662ENSACIG00000021553hfm19160.662Amphilophus_citrinellus
ENSG00000162669HFM16465.811ENSAOCG00000022839hfm110065.811Amphiprion_ocellaris
ENSG00000162669HFM16465.461ENSAPEG00000014316hfm19669.532Amphiprion_percula
ENSG00000162669HFM16764.396ENSATEG00000019181hfm18063.537Anabas_testudineus
ENSG00000162669HFM110060.301ENSAPLG00000013639HFM110060.301Anas_platyrhynchos
ENSG00000162669HFM110091.997ENSANAG00000029513HFM110091.997Aotus_nancymaae
ENSG00000162669HFM16563.734ENSACLG00000009033hfm19765.316Astatotilapia_calliptera
ENSG00000162669HFM19351.909ENSAMXG00000006108hfm19052.053Astyanax_mexicanus
ENSG00000162669HFM110085.278ENSBTAG00000020856HFM110085.278Bos_taurus
ENSG00000162669HFM110093.868ENSCJAG00000001843HFM110093.868Callithrix_jacchus
ENSG00000162669HFM110086.032ENSCAFG00000020187HFM110086.032Canis_familiaris
ENSG00000162669HFM110079.710ENSCAFG00020013595-10084.009Canis_lupus_dingo
ENSG00000162669HFM19571.970ENSCHIG00000018623-9574.565Capra_hircus
ENSG00000162669HFM110087.352ENSTSYG00000014250HFM110087.352Carlito_syrichta
ENSG00000162669HFM19978.984ENSCPOG00000007421HFM19978.984Cavia_porcellus
ENSG00000162669HFM110093.798ENSCCAG00000033206HFM110093.798Cebus_capucinus
ENSG00000162669HFM110096.864ENSCATG00000030987HFM110096.864Cercocebus_atys
ENSG00000162669HFM110081.242ENSCLAG00000005173HFM19981.242Chinchilla_lanigera
ENSG00000162669HFM16896.053ENSCHOG00000011824-7796.053Choloepus_hoffmanni
ENSG00000162669HFM110094.928ENSCANG00000034052-9996.360Colobus_angolensis_palliatus
ENSG00000162669HFM110073.946ENSCGRG00001016995Hfm110073.946Cricetulus_griseus_chok1gshd
ENSG00000162669HFM110078.179ENSCGRG00000017181Hfm110078.179Cricetulus_griseus_crigri
ENSG00000162669HFM17060.621ENSCSEG00000017659hfm19360.621Cynoglossus_semilaevis
ENSG00000162669HFM15069.101ENSCVAG00000005075hfm18669.101Cyprinodon_variegatus
ENSG00000162669HFM16066.238ENSDARG00000104288hfm17766.238Danio_rerio
ENSG00000162669HFM110086.957ENSDNOG00000004776HFM110081.402Dasypus_novemcinctus
ENSG00000162669HFM110078.709ENSDORG00000014661Hfm110078.709Dipodomys_ordii
ENSG00000162669HFM110084.892ENSEASG00005015424HFM19885.435Equus_asinus_asinus
ENSG00000162669HFM110084.983ENSECAG00000024039HFM110084.983Equus_caballus
ENSG00000162669HFM16466.744ENSELUG00000018944hfm19966.744Esox_lucius
ENSG00000162669HFM110086.319ENSFCAG00000029116HFM110086.319Felis_catus
ENSG00000162669HFM110060.014ENSFALG00000001781HFM110060.428Ficedula_albicollis
ENSG00000162669HFM110079.785ENSFDAG00000020816HFM110079.785Fukomys_damarensis
ENSG00000162669HFM16660.729ENSGMOG00000017436hfm110060.729Gadus_morhua
ENSG00000162669HFM17162.002ENSGAFG00000018093hfm19367.150Gambusia_affinis
ENSG00000162669HFM16662.319ENSGACG00000015686hfm110062.319Gasterosteus_aculeatus
ENSG00000162669HFM1100100.000ENSGGOG00000038524HFM110098.955Gorilla_gorilla
ENSG00000162669HFM16564.807ENSHBUG00000007309hfm19659.962Haplochromis_burtoni
ENSG00000162669HFM110071.223ENSHGLG00000007780-10080.384Heterocephalus_glaber_female
ENSG00000162669HFM110071.223ENSHGLG00100019217-10078.692Heterocephalus_glaber_male
ENSG00000162669HFM15764.216ENSHCOG00000019632hfm19764.216Hippocampus_comes
ENSG00000162669HFM16664.632ENSIPUG00000017020hfm19265.714Ictalurus_punctatus
ENSG00000162669HFM110076.259ENSSTOG00000008477-10081.023Ictidomys_tridecemlineatus
ENSG00000162669HFM110078.219ENSJJAG00000017198Hfm110078.219Jaculus_jaculus
ENSG00000162669HFM16263.636ENSKMAG00000002282hfm19063.707Kryptolebias_marmoratus
ENSG00000162669HFM17060.707ENSLBEG00000006759hfm19865.299Labrus_bergylta
ENSG00000162669HFM16670.868ENSLACG00000010698HFM19967.014Latimeria_chalumnae
ENSG00000162669HFM17264.661ENSLOCG00000004931hfm19664.756Lepisosteus_oculatus
ENSG00000162669HFM15290.310ENSLAFG00000015903-9990.310Loxodonta_africana
ENSG00000162669HFM110095.652ENSMFAG00000003649HFM110093.407Macaca_fascicularis
ENSG00000162669HFM110096.376ENSMMUG00000006819HFM110096.376Macaca_mulatta
ENSG00000162669HFM110095.652ENSMNEG00000039833-9994.647Macaca_nemestrina
ENSG00000162669HFM110095.652ENSMLEG00000027571-9996.146Mandrillus_leucophaeus
ENSG00000162669HFM15470.641ENSMAMG00000004623hfm19766.908Mastacembelus_armatus
ENSG00000162669HFM16563.734ENSMZEG00005004679hfm19765.316Maylandia_zebra
ENSG00000162669HFM19937.671ENSMGAG00000008437HFM19877.423Meleagris_gallopavo
ENSG00000162669HFM110078.125ENSMAUG00000018858Hfm110078.125Mesocricetus_auratus
ENSG00000162669HFM110088.673ENSMICG00000037935HFM110088.673Microcebus_murinus
ENSG00000162669HFM110076.319ENSMOCG00000014812Hfm110076.319Microtus_ochrogaster
ENSG00000162669HFM16264.350ENSMMOG00000006148hfm19664.426Mola_mola
ENSG00000162669HFM16564.354ENSMALG00000002401hfm19665.618Monopterus_albus
ENSG00000162669HFM19868.382MGP_CAROLIEiJ_G0027496Hfm110071.964Mus_caroli
ENSG00000162669HFM110076.773ENSMUSG00000043410Hfm110076.773Mus_musculus
ENSG00000162669HFM110076.982MGP_PahariEiJ_G0017268Hfm110076.982Mus_pahari
ENSG00000162669HFM110076.426MGP_SPRETEiJ_G0028495Hfm110076.426Mus_spretus
ENSG00000162669HFM110082.222ENSMPUG00000004594HFM110082.222Mustela_putorius_furo
ENSG00000162669HFM110083.761ENSMLUG00000010200HFM110083.761Myotis_lucifugus
ENSG00000162669HFM16560.557ENSNBRG00000002910hfm19765.697Neolamprologus_brichardi
ENSG00000162669HFM110097.674ENSNLEG00000010285HFM110093.946Nomascus_leucogenys
ENSG00000162669HFM17386.087ENSMEUG00000015788HFM18466.954Notamacropus_eugenii
ENSG00000162669HFM18478.675ENSOPRG00000013916HFM18478.675Ochotona_princeps
ENSG00000162669HFM110070.504ENSODEG00000006243-10079.318Octodon_degus
ENSG00000162669HFM17162.500ENSONIG00000010590hfm19962.452Oreochromis_niloticus
ENSG00000162669HFM110075.362ENSOCUG00000010974-9577.519Oryctolagus_cuniculus
ENSG00000162669HFM15766.052ENSORLG00000026844hfm19966.052Oryzias_latipes
ENSG00000162669HFM18549.274ENSORLG00020002951hfm19649.355Oryzias_latipes_hni
ENSG00000162669HFM18952.261ENSOMEG00000016474hfm19052.261Oryzias_melastigma
ENSG00000162669HFM110091.304ENSOGAG00000032369HFM110088.762Otolemur_garnettii
ENSG00000162669HFM110085.357ENSOARG00000015812HFM110085.357Ovis_aries
ENSG00000162669HFM1100100.000ENSPPAG00000024582HFM110099.698Pan_paniscus
ENSG00000162669HFM110086.250ENSPPRG00000003270HFM110086.250Panthera_pardus
ENSG00000162669HFM110086.319ENSPTIG00000018881HFM110086.319Panthera_tigris_altaica
ENSG00000162669HFM1100100.000ENSPTRG00000000948HFM110099.303Pan_troglodytes
ENSG00000162669HFM110096.725ENSPANG00000009838HFM110096.725Papio_anubis
ENSG00000162669HFM16267.416ENSPKIG00000003810hfm19567.754Paramormyrops_kingsleyae
ENSG00000162669HFM15866.264ENSPMGG00000011059hfm110066.264Periophthalmus_magnuspinnatus
ENSG00000162669HFM110080.320ENSPEMG00000022852Hfm110080.320Peromyscus_maniculatus_bairdii
ENSG00000162669HFM110066.979ENSPCIG00000014233HFM110066.979Phascolarctos_cinereus
ENSG00000162669HFM17062.642ENSPFOG00000017194hfm19962.642Poecilia_formosa
ENSG00000162669HFM17164.654ENSPLAG00000000571hfm19264.654Poecilia_latipinna
ENSG00000162669HFM17164.306ENSPMEG00000019475hfm19264.306Poecilia_mexicana
ENSG00000162669HFM17063.744ENSPREG00000007803hfm19366.868Poecilia_reticulata
ENSG00000162669HFM110098.328ENSPPYG00000001163HFM110098.328Pongo_abelii
ENSG00000162669HFM18473.438ENSPCAG00000004289-7482.883Procavia_capensis
ENSG00000162669HFM110086.957ENSPCOG00000026252-10075.053Propithecus_coquereli
ENSG00000162669HFM110080.435ENSPVAG00000009713HFM110078.079Pteropus_vampyrus
ENSG00000162669HFM16563.519ENSPNYG00000001795hfm19765.197Pundamilia_nyererei
ENSG00000162669HFM15967.494ENSPNAG00000010865hfm18467.494Pygocentrus_nattereri
ENSG00000162669HFM110076.356ENSRNOG00000023299Hfm110076.356Rattus_norvegicus
ENSG00000162669HFM110093.478ENSRBIG00000033899-9995.075Rhinopithecus_bieti
ENSG00000162669HFM110096.655ENSRROG00000045569HFM110096.655Rhinopithecus_roxellana
ENSG00000162669HFM110091.304ENSSBOG00000027456HFM110091.220Saimiri_boliviensis_boliviensis
ENSG00000162669HFM19346.154ENSSHAG00000014616-9871.792Sarcophilus_harrisii
ENSG00000162669HFM18656.701ENSSFOG00015020129hfm19656.701Scleropages_formosus
ENSG00000162669HFM16264.916ENSSMAG00000006907hfm18764.916Scophthalmus_maximus
ENSG00000162669HFM16464.527ENSSDUG00000011424hfm110064.527Seriola_dumerili
ENSG00000162669HFM16564.808ENSSLDG00000016386hfm110064.808Seriola_lalandi_dorsalis
ENSG00000162669HFM19963.768ENSSARG00000009598-9967.609Sorex_araneus
ENSG00000162669HFM19737.410ENSSPUG00000003380-9088.325Sphenodon_punctatus
ENSG00000162669HFM16266.787ENSSPAG00000001023hfm110066.787Stegastes_partitus
ENSG00000162669HFM110082.155ENSSSCG00000006912HFM110082.155Sus_scrofa
ENSG00000162669HFM16675.131ENSTGUG00000006172HFM110075.131Taeniopygia_guttata
ENSG00000162669HFM110076.978ENSTBEG00000017533-9979.381Tupaia_belangeri
ENSG00000162669HFM110082.639ENSTTRG00000013933HFM110082.639Tursiops_truncatus
ENSG00000162669HFM110079.856ENSUAMG00000008754-9978.994Ursus_americanus
ENSG00000162669HFM110079.856ENSUMAG00000001345-10082.766Ursus_maritimus
ENSG00000162669HFM19384.235ENSVPAG00000011331HFM19384.235Vicugna_pacos
ENSG00000162669HFM110077.536ENSVVUG00000020760HFM19982.865Vulpes_vulpes
ENSG00000162669HFM15866.945ENSXMAG00000004178hfm19266.945Xiphophorus_maculatus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000712resolution of meiotic recombination intermediates-IEAProcess
GO:0003676nucleic acid binding-IEAFunction
GO:0004386helicase activity-IEAFunction
GO:0005524ATP binding-IEAFunction
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