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
24853948Genome-wide investigation of regional blood-based DNA methylation adjusted for complete blood counts implicates BNC2 in ovarian cancer.Genet Epidemiol2014 JulWinham SJdoi: 10.1002/gepi.21815
20852632A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.Nat Genet2010 OctGoode ELdoi: 10.1038/ng.668
21642636Ovarian cancer-associated polymorphisms in the BNC2 gene among women with endometriosis.Hum Reprod2011 AugSundqvist Jdoi: 10.1093/humrep/der169

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr916436341Missense_MutationnovelM618K0.51
ACCchr916418995SilentnovelV1098V0.61
ACCchr916437426SilentnovelS256S0.13
ACCchr916419581Missense_Mutationrs752551063S903L0.94
BLCAchr9168706955'UTRrs7749447010.5
BLCAchr916419505SilentnovelG928G0.3
BLCAchr916552653SilentnovelV182V0.13
BLCAchr916437087Silentrs758963232S369S0.1
BLCAchr916727862Missense_MutationnovelE89K0.31
BLCAchr916728099Intronnovel0.13
BLCAchr9168707235'Flanknovel0.1
BLCAchr916552752SilentnovelL149L0.06
BLCAchr916727873Missense_MutationnovelT85M0.11
BLCAchr916436193SilentnovelV667V0.43
BLCAchr916436541Missense_Mutationrs763083458Q551H0.55
BLCAchr916437201SilentnovelV331V0.47
BLCAchr916435868Nonsense_MutationNAE776*0.27
BLCAchr916437331Missense_MutationnovelS288T0.16
BLCAchr916419110Missense_MutationNAR1060T0.94
BLCAchr916437458Nonsense_MutationNAQ246*0.15
BLCAchr916436826SilentNAL456L0.28
BLCAchr916437497Missense_MutationnovelW233R0.11
BLCAchr916419408Missense_MutationnovelD961N0.22
BLCAchr916419031SilentnovelN1086N0.14
BLCAchr916436154SilentnovelE680E0.76
BLCAchr916419532SilentnovelK919K0.18
BLCAchr916552645Missense_Mutationrs746370194R185Q0.2
BLCAchr916436753Missense_MutationnovelS481C0.41
BRCAchr9168707005'UTRrs7627202550.31
BRCAchr9164121593'UTRnovel0.7
BRCAchr916552601Missense_MutationnovelE200Q0.1
BRCAchr916436222Missense_MutationNAD658N0.22
BRCAchr916419613Missense_MutationnovelL892F0.42
BRCAchr9164172223'UTRnovel0.23
BRCAchr916435797SilentNAA799A0.31
BRCAchr9164122333'UTRnovel0.21
BRCAchr916436560Frame_Shift_DelnovelP545Lfs*20.29
BRCAchr9164164763'UTRnovel0.26
BRCAchr9164189593'UTRnovel0.42
BRCAchr916552598Missense_MutationNAE201K0.22
BRCAchr916419024Missense_MutationnovelL1089F0.08
BRCAchr916419371Missense_MutationnovelS973N0.2
BRCAchr916552755Silentrs750931755K148K0.25
BRCAchr916437299Missense_MutationNAA299T0.14
CESCchr9164163263'UTRrs5510758380.27
CESCchr916552658Missense_MutationNAA181T0.38
CESCchr9164166783'UTRnovel0.17
CESCchr916436785Missense_MutationNAR470P0.35
CESCchr916738439Missense_MutationnovelS17L0.37
CESCchr916738439Frame_Shift_InsnovelS17Ffs*370.17
CESCchr916738441Frame_Shift_InsnovelK16Nfs*370.14
CESCchr9164103803'UTRnovel0.36
CESCchr9164115583'UTRnovel0.46
CESCchr9164176393'UTRnovel0.46
CESCchr916429972Intronnovel0.29
CESCchr916436819Missense_MutationNAH459Y0.12
CESCchr9164182183'UTRnovel0.21
CESCchr9164173623'UTRnovel0.17
CESCchr9164096893'UTRnovel0.24
CESCchr9164106123'UTRnovel0.48
CESCchr916436228Missense_MutationNAE656K0.56
CHOLchr9164165913'UTRnovel0.31
CHOLchr916419549Missense_MutationNAD914N0.89
COADchr916436471Missense_MutationNAS575R0.07
COADchr916419050Missense_Mutationrs772424815R1080Q0.36
COADchr916419268Missense_MutationnovelE1007D0.04
COADchr916583009Missense_MutationnovelQ136R0.16
COADchr916435092Intronnovel0.08
COADchr916419067Missense_MutationnovelF1074L0.19
COADchr916437092Missense_MutationNAE368K0.28
COADchr916419346Silentrs374901966D981D0.39
COADchr916437002Missense_MutationnovelE398K0.21
COADchr9168707645'Flanknovel0.24
COADchr916436766Nonsense_MutationnovelC476*0.18
COADchr916436920Missense_Mutationrs754309176R425Q0.43
COADchr916419057Nonsense_MutationnovelR1078*0.22
COADchr916435631Missense_Mutationrs747700365V855I0.29
COADchr916436008Missense_Mutationrs565251984S729L0.27
COADchr916436304Missense_MutationNAK630N0.28
COADchr916419002Missense_MutationNAT1096I0.15
COADchr916436139SilentNAG685G0.26
COADchr916436660Missense_Mutationrs773045476R512W0.28
COADchr9164189773'UTRnovel0.41
COADchr916552637Missense_MutationnovelI188V0.4
COADchr916419042Missense_MutationnovelH1083N0.04
COADchr916436376Silentrs142872531P606P0.29
COADchr916419051Nonsense_MutationnovelR1080*0.1
COADchr9168706685'UTRnovel0.34
COADchr916435631Missense_Mutationrs747700365V855I0.38
COADchr916727883Missense_Mutationrs753706030G82R0.3
COADchr916419448SilentnovelN947N0.43
COADchr916435606Missense_MutationnovelC863Y0.21
COADchr916435789Missense_MutationNAA802D0.54
COADchr916436101Missense_Mutationrs548745485R698Q0.28
COADchr916436377Frame_Shift_DelNAP606Rfs*70.27
COADchr916419230Nonsense_MutationnovelS1020*0.23
COADchr916582983Missense_MutationNAA145S0.15
COADchr916436040SilentNAP718P0.17
COADchr916436377Frame_Shift_DelNAP606Rfs*70.3
COADchr9168706855'UTRnovel0.23
COADchr916436243Missense_Mutationrs767945913D651N0.26
COADchr916435561Missense_MutationNAR878Q0.22
COADchr916437138SilentNAL352L0.37
COADchr916436897Missense_MutationNAG433R0.36
COADchr916583070SilentnovelL116L0.26
COADchr916419301Silentrs757433556A996A0.1
COADchr916437030SilentNAT388T0.38
COADchr916436778SilentnovelT472T0.04
COADchr916727943Missense_MutationnovelP62S0.1
COADchr916436134Missense_MutationNAS687Y0.16
COADchr916437235Missense_MutationnovelA320V0.31
COADchr916419541Missense_MutationNAF916L0.31
COADchr916727936Missense_MutationNAR64M0.18
COADchr916437205Frame_Shift_DelNAP330Lfs*70.75
COADchr9164187813'UTRnovel0.24
COADchr916419424SilentnovelE955E0.25
COADchr916435955Missense_Mutationrs535983413E747K0.3
COADchr916728102Intronnovel0.38
COADchr916437499Missense_MutationNAR232H0.27
COADchr916419328SilentNAG987G0.42
COADchr916727873Missense_MutationnovelT85M0.22
COADchr916435956Silentrs186911225S746S0.21
COADchr916436660Missense_Mutationrs773045476R512W0.23
COADchr916435984Missense_MutationnovelS737F0.29
COADchr916727873Missense_MutationnovelT85M0.07
COADchr916437443Frame_Shift_InsnovelF251Pfs*380.1
COADchr916419552Missense_Mutationrs201906895R913C0.12
DLBCchr916727798Missense_MutationnovelQ110L0.45
DLBCchr916436376Frame_Shift_InsNAP607Afs*40.28
ESCAchr916419546Missense_MutationnovelE915Q0.25
ESCAchr9164123303'UTRnovel0.42
ESCAchr916436058SilentnovelT712T0.25
ESCAchr916728028Intronnovel0.22
ESCAchr9164166573'UTRnovel0.5
ESCAchr9164126693'UTRnovel0.2
ESCAchr9164185713'UTRnovel0.09
ESCAchr916435645Missense_MutationnovelL850R0.35
ESCAchr916437356Missense_MutationNAS280P0.51
ESCAchr9164105663'UTRnovel0.25
ESCAchr916436782Missense_MutationnovelC471F0.1
GBMchr916419637Missense_MutationnovelN884K0.66
GBMchr916436667Missense_MutationnovelD509E0.1
GBMchr916419306Missense_Mutationrs143124811G995R0.24
GBMchr916435992Silentrs376030025G734G0.59
GBMchr916436912Missense_Mutationrs756459154R428W0.47
GBMchr916436323Frame_Shift_DelnovelS624Mfs*170.03
GBMchr916435845Silentrs371557826Y783Y0.41
GBMchr916436737Missense_MutationNAR486H0.56
GBMchr916419624Missense_Mutationrs779084645R889C0.17
GBMchr916727913Missense_MutationnovelD72Y0.06
GBMchr916436912SilentnovelR428R0.05
GBMchr916437499Missense_MutationNAR232H0.9
HNSCchr916437440Missense_MutationnovelG252R0.25
HNSCchr916419595Silentrs764158622D898D0.72
HNSCchr916429850Intronnovel0.33
HNSCchr916435643Missense_MutationnovelH851Y0.09
HNSCchr916435984Missense_MutationnovelS737C0.06
HNSCchr916437137Missense_Mutationrs772675068R353W0.23
HNSCchr916436015Missense_MutationnovelE727Q0.76
HNSCchr916436305Missense_MutationnovelK630M0.29
HNSCchr916552617SilentnovelF194F0.43
HNSCchr916437496Nonsense_MutationnovelW233*0.2
HNSCchr916728145Intronnovel0.14
KICHchr916552697Missense_Mutationrs769900613V168M0.14
KIRCchr916436485Missense_MutationnovelP570L0.2
KIRCchr916419519Frame_Shift_DelnovelQ924Sfs*230.2
KIRCchr916437444SilentnovelR250R0.11
KIRPchr916728010Intronnovel0.29
KIRPchr916419223SilentNAS1022S0.31
LAMLchr916435991Nonsense_MutationnovelE735*0.12
LAMLchr916436737Missense_MutationNAR486H0.31
LGGchr916727918Nonsense_MutationnovelL70*0.36
LGGchr916727884SilentNAF81F0.39
LGGchr916437002Missense_MutationnovelE398K0.39
LIHCchr916738422Nonsense_MutationnovelE23*0.45
LIHCchr916738383Missense_MutationNAG36W0.36
LIHCchr916437129SilentNAP355P0.35
LIHCchr916436854Missense_MutationnovelG447E0.54
LIHCchr916418996Missense_MutationnovelV1098E0.2
LIHCchr916436156Missense_MutationnovelE680K0.4
LIHCchr916436866Missense_MutationnovelC443S0.04
LUADchr916436692Missense_MutationNAM501T0.22
LUADchr916435582Missense_MutationnovelA871E0.25
LUADchr916436725Missense_MutationnovelS490I0.19
LUADchr916552660Missense_MutationNAQ180L0.19
LUADchr916552767Splice_SiteNAX145_splice0.25
LUADchr916419247SilentnovelS1014S0.41
LUADchr916727923SilentnovelL68L0.69
LUADchr916552760Missense_MutationnovelD147Y0.44
LUADchr916436216Missense_MutationNAP660T0.12
LUADchr916436471Missense_MutationNAS575R0.28
LUADchr916436592SilentnovelP534P0.16
LUADchr916728097Intronnovel0.09
LUADchr916437288SilentNAE302E0.27
LUADchr916437489SilentnovelI235I0.38
LUADchr916437288SilentNAE302E0.08
LUADchr916437349Missense_MutationNAI282K0.09
LUADchr916435888Missense_MutationnovelQ769L0.18
LUADchr916436627Missense_MutationNAA523T0.55
LUADchr916419112Missense_MutationnovelL1059F0.05
LUADchr916436511Silentrs777240994S561S0.41
LUADchr916419600Missense_MutationnovelD897Y0.21
LUADchr916436722Missense_MutationnovelA491G0.22
LUADchr916419224Missense_MutationNAS1022Y0.62
LUADchr916552726Missense_MutationNAT158N0.21
LUADchr916552728SilentNAP157P0.21
LUADchr916738409Missense_MutationNAP27Q0.12
LUADchr916436332Missense_MutationnovelH621L0.15
LUADchr916437219Missense_MutationnovelF325L0.88
LUADchr9168707345'Flanknovel0.94
LUADchr916738393SilentnovelV32V0.65
LUADchr916419341Missense_MutationNAG983V0.42
LUADchr916727857SilentNAP90P0.26
LUADchr916437386Missense_MutationNAA270P0.21
LUADchr916419148Missense_MutationNAK1047N0.25
LUSCchr916552648Missense_MutationnovelV184A0.3
LUSCchr916435826Missense_MutationNAQ790K0.22
LUSCchr916552566Missense_MutationnovelW211C0.22
LUSCchr916436796Missense_MutationnovelK466N0.43
LUSCchr916435568Nonsense_MutationnovelR876*0.3
LUSCchr916437022Missense_MutationnovelT391N0.2
LUSCchr916435561Missense_MutationNAR878Q0.34
LUSCchr916436156Nonsense_MutationnovelE680*0.37
LUSCchr9164188893'UTRnovel0.38
LUSCchr916419492Missense_MutationnovelE933K0.06
LUSCchr9164189623'UTRnovel0.09
LUSCchr916583010Nonsense_MutationNAQ136*0.08
LUSCchr916437521Missense_MutationnovelA225S0.35
LUSCchr916436422Missense_MutationNAT591N0.63
LUSCchr916436691Frame_Shift_InsnovelM501Ifs*60.53
LUSCchr916436265Silentrs765607483E643E0.23
LUSCchr916552595Missense_MutationNAV202L0.28
LUSCchr916419457SilentNAS944S0.52
LUSCchr916552543Missense_MutationnovelG219V0.65
LUSCchr916419154Missense_MutationnovelS1045R0.63
LUSCchr9168707535'Flanknovel0.25
LUSCchr916419558Missense_MutationNAD911Y0.12
LUSCchr916436226Missense_MutationnovelE656D0.13
LUSCchr916419088SilentnovelV1067V0.24
LUSCchr916552646Missense_MutationNAR185W0.45
LUSCchr916435632Missense_MutationnovelN854K0.4
LUSCchr916419080Missense_MutationNAC1070F0.69
LUSCchr916419522Missense_Mutationrs145962490A923S0.7
OVchr916435610Missense_MutationnovelV862L0.03
OVchr916435722SilentnovelG824G0.12
OVchr916419331Missense_Mutationrs759866043E986D0.09
OVchr916437353Missense_MutationnovelD281H0.03
OVchr916437051SilentNAT381T0.34
OVchr916552533SilentnovelL222L0.32
OVchr916419203Missense_MutationnovelS1029F0.07
OVchr916437049Missense_Mutationrs761522806P382R0.29
OVchr916436014Missense_MutationnovelE727V0.26
OVchr916436376Frame_Shift_InsNAP607Afs*40.05
OVchr916436413Missense_MutationnovelI594T0.04
OVchr916727922Missense_MutationnovelT69P0.05
OVchr916727942Missense_MutationnovelP62Q0.03
PAADchr916436737Missense_MutationNAR486H0.03
PAADchr916435991Missense_MutationnovelE735K0.04
PRADchr916436377Frame_Shift_DelNAP606Rfs*70.21
PRADchr916436743Missense_MutationNAR484Q0.09
PRADchr916419337Silentrs368842595S984S0.2
PRADchr916436343Missense_MutationnovelM617I0.18
PRADchr916419583Missense_MutationNAD902E0.35
PRADchr916436969Missense_MutationnovelA409T0.3zf-C2H2
READchr916419301Silentrs757433556A996A0.27
READchr916436008Missense_Mutationrs565251984S729L0.27
READchr916436587Missense_Mutationrs376354558R536Q0.26
READchr916437257Missense_MutationNAE313K0.28
READchr916419284Missense_Mutationrs752799809S1002L0.13
READchr916436678Nonsense_MutationNAR506*0.19
READchr916552554Missense_MutationnovelD215E0.09
READchr916419346Silentrs374901966D981D0.57
SARCchr9164115783'UTRnovel0.13
SARCchr916552698Silentrs143821778V167V0.31
SARCchr916552637Missense_MutationnovelI188F0.39
SARCchr916738395Missense_MutationnovelV32I0.39
SKCMchr9168706785'UTRnovel0.22
SKCMchr916436786Nonsense_MutationNAR470*0.39
SKCMchr916436878Missense_MutationNAG439E0.69
SKCMchr916437223Missense_MutationNAP324L0.35
SKCMchr916437036SilentnovelA386A0.67
SKCMchr916552731SilentNAH156H0.15
SKCMchr916436819Missense_MutationNAH459Y0.38
SKCMchr916552651Missense_MutationNAP183L0.35
SKCMchr916437421Missense_MutationNAV258G0.81
SKCMchr916738475Missense_MutationnovelG5E0.17
SKCMchr916738476Missense_MutationnovelG5R0.21
SKCMchr916437323Missense_MutationnovelR291C0.28
SKCMchr916552724Nonsense_MutationnovelQ159*0.43
SKCMchr916436537Missense_MutationNAP553S0.25
SKCMchr916436262Silentrs755222798K644K0.46
SKCMchr916436453Missense_MutationNAE581K0.59
SKCMchr916437451Missense_MutationNAF248Y0.41
SKCMchr9164188973'UTRnovel0.27
SKCMchr916419502Silentrs774762974L929L0.19
SKCMchr916436279Missense_MutationNAP639S0.55
SKCMchr916552548SilentNAV217V0.48
SKCMchr916436271SilentnovelK641K0.48
SKCMchr916436008Missense_Mutationrs565251984S729L0.77
SKCMchr916436786Nonsense_MutationNAR470*0.3
STADchr916436471Missense_MutationNAS575R0.26
STADchr916436814Nonsense_MutationNAY460*0.26
STADchr916419502Silentrs774762974L929L0.21
STADchr916435652Missense_MutationNAV848M0.29
STADchr916435705Missense_MutationNAP830Q0.17
STADchr916436327Missense_MutationnovelP623A0.27
STADchr916436377Frame_Shift_DelNAP606Rfs*70.23
STADchr916436588Nonsense_MutationNAR536*0.68
STADchr916437379Missense_MutationnovelA272V0.15
STADchr916583065SilentNAV117V0.1
STADchr916436008Missense_Mutationrs565251984S729L0.36
STADchr916436470Missense_MutationNAS575I0.25
STADchr916437107Missense_MutationNAY363N0.69
STADchr916419382SilentnovelQ969Q0.15
STADchr916437208Missense_MutationnovelN329I0.37
STADchr916436975Missense_MutationNAN407D0.11zf-C2H2
STADchr916738379Missense_MutationNAV37G0.14
STADchr916738429Missense_MutationnovelR20S0.36
STADchr916437182Missense_MutationNAL338V0.41
STADchr916419552Missense_Mutationrs201906895R913C0.05
STADchr916437446Missense_MutationNAR250W0.22
STADchr9168706665'UTRnovel0.26
STADchr916436014Missense_MutationNAE727G0.1
STADchr916436471Missense_MutationNAS575R0.42
STADchr916436036Missense_Mutationrs751961896R720W0.36
STADchr916436898Missense_MutationnovelM432I0.17
STADchr916419432Missense_MutationNAM953V0.22
STADchr916436045Missense_MutationNAE717K0.08
STADchr916436123Missense_MutationNAF691L0.09
STADchr916436008Missense_Mutationrs565251984S729L0.18
STADchr916435948Missense_MutationNAS749N0.42
STADchr916436471Missense_MutationNAS575R0.51
STADchr916435992Silentrs376030025G734G0.45
STADchr916419585Missense_MutationNAD902Y0.14
STADchr916552747Missense_Mutationrs752429719T151M0.31
TGCTchr916727867Missense_MutationnovelT87M0.07
THCAchr916436642Missense_MutationNAA518T0.33
THCAchr916436474Missense_MutationNAR574G0.34
THCAchr916435994Missense_MutationNAG734C0.16
THCAchr916728127Intronnovel0.13
THYMchr9164185603'UTRnovel0.3
THYMchr916436641Missense_MutationnovelA518V0.33
UCECchr916552646Missense_MutationNAR185W0.21
UCECchr916436008Missense_Mutationrs565251984S729L0.34
UCECchr916419045Missense_Mutationrs528196175R1082W0.2
UCECchr916419601Silentrs563504708L896L0.3
UCECchr916436045Nonsense_MutationNAE717*0.25
UCECchr916436660Missense_Mutationrs773045476R512W0.33
UCECchr916552700Missense_MutationNAV167I0.48
UCECchr9164103743'UTRnovel0.17
UCECchr916419581Missense_Mutationrs752551063S903L0.31
UCECchr916436732Missense_MutationNAR488C0.3
UCECchr916437460Missense_MutationnovelL245P0.07
UCECchr9164123303'UTRnovel0.52
UCECchr916435692SilentNAI834I0.37
UCECchr916436744Nonsense_MutationNAR484*0.26
UCECchr9164116303'UTRrs7705538970.41
UCECchr9164119233'UTRnovel0.88
UCECchr9164123853'UTRnovel0.45
UCECchr9164124823'UTRnovel0.64
UCECchr9164187293'UTRnovel0.39
UCECchr916436588Nonsense_MutationNAR536*0.44
UCECchr916552723Missense_MutationnovelQ159R0.47
UCECchr9164124553'UTRnovel0.71
UCECchr916552649Missense_Mutationrs780058802V184M0.45
UCECchr916583027Missense_MutationnovelN130T0.08
UCECchr916419501Missense_Mutationrs138000896D930N0.19
UCECchr916436245Missense_MutationNAA650V0.47
UCECchr916436732Missense_MutationNAR488C0.44
UCECchr9164117023'UTRnovel0.59
UCECchr916552589Missense_MutationnovelH204Y0.43
UCECchr9164178543'UTRnovel0.08
UCECchr916436660Missense_Mutationrs773045476R512W0.35
UCECchr916552575SilentnovelG208G0.36
UCECchr9164152153'UTRnovel0.31
UCECchr916435666Missense_MutationnovelK843T0.41
UCECchr916437018Missense_MutationnovelN392K0.39
UCECchr9164097933'UTRnovel0.47
UCECchr9164168753'UTRnovel0.25
UCECchr916435765Missense_Mutationrs769262078S810L0.49
UCECchr9164123893'UTRnovel0.21
UCECchr9164164603'UTRnovel0.26
UCECchr9164170803'UTRnovel0.13
UCECchr916419406Missense_MutationnovelD961E0.34
UCECchr916436254Missense_MutationnovelI647N0.05
UCECchr916419045Missense_Mutationrs528196175R1082W0.24
UCECchr916435828Missense_MutationNAS789I0.16
UCECchr916436327Missense_MutationNAP623S0.17
UCECchr916419338Missense_MutationNAS984N0.09
UCECchr916419618In_Frame_InsnovelK890_L891insDK0.19
UCECchr9164164733'UTRnovel0.26
UCECchr916419600Missense_Mutationrs756874020D897N0.35
UCECchr916431475Intronnovel0.5
UCECchr916419447Missense_MutationNAG948R0.32
UCECchr916436560Missense_MutationnovelP545H0.14
UCECchr916435711Missense_MutationnovelS828Y0.28
UCECchr916419577Silentrs747322250S904S0.38
UCECchr9164116423'UTRnovel0.37
UCECchr9164095413'UTRnovel0.44
UCECchr9164113973'UTRnovel0.41
UCECchr9164121263'UTRnovel0.35
UCECchr9164127073'UTRnovel0.28
UCECchr9164186303'UTRnovel0.12
UCECchr916419224Missense_MutationnovelS1022F0.26
UCECchr916436475Nonsense_MutationnovelY573*0.11
UCECchr916437343Missense_MutationnovelT284I0.33
UCECchr9164121823'UTRnovel0.46
UCECchr9164125833'UTRnovel0.48
UCECchr9164165313'UTRnovel0.45
UCECchr916419315Missense_MutationnovelD992Y0.35
UCECchr916436140Missense_MutationnovelG685V0.08
UCECchr9168706925'UTRnovel0.41
UCECchr9164112963'UTRnovel0.5
UCECchr916429970Intronnovel0.25
UCECchr9164112563'UTRnovel0.36
UCECchr9164126353'UTRnovel0.31
UCECchr9164168373'UTRnovel0.39
UCECchr916419155Missense_MutationnovelS1045N0.4
UCECchr916435568Nonsense_MutationnovelR876*0.22
UCECchr9168707175'Flanknovel0.41
UCECchr916738378SilentnovelV37V0.19
UCECchr9164189423'UTRnovel0.44
UCECchr916419349Silentrs758600271S980S0.27
UCECchr9168707895'Flanknovel0.25
UCECchr9164095623'UTRnovel0.49
UCECchr9164113223'UTRnovel0.38
UCECchr9164164973'UTRnovel0.11
UCECchr9164097583'UTRnovel0.39
UCECchr9164188123'UTRnovel0.32
UCECchr9164097923'UTRnovel0.24
UCECchr9164163883'UTRnovel0.4
UCECchr9164178993'UTRnovel0.51
UCECchr9164180733'UTRnovel0.5
UCECchr916429828Intronnovel0.42
UCECchr916435951Missense_MutationnovelV748A0.44
UCECchr9164104953'UTRnovel0.61
UCECchr9164111803'UTRnovel0.5
UCECchr9164113163'UTRnovel0.56
UCECchr9164170713'UTRnovel0.5
UCECchr916419318Missense_Mutationrs753276488D991N0.5
UCECchr916436609Missense_MutationnovelL529M0.49
UCECchr916436912Missense_Mutationrs756459154R428W0.43
UCECchr9164183913'UTRnovel0.42
UCECchr916435602SilentnovelT864T0.12
UCECchr9164185593'UTRnovel0.61
UCECchr9164123303'UTRnovel0.45
UCECchr9164105573'UTRnovel0.29
UCECchr9164113223'UTRnovel0.26
UCECchr9164114163'UTRnovel0.41
UCECchr916436660Missense_Mutationrs773045476R512W0.26
UCECchr916437087SilentnovelS369S0.36
UCECchr916552544Nonsense_MutationNAG219*0.33
UCECchr9164106273'UTRnovel0.21
UCECchr9164153043'UTRrs169346240.38
UCECchr9164171223'UTRnovel0.39
UCECchr9164183943'UTRnovel0.49
UCECchr916431436Intronnovel0.46
UCECchr916435776Missense_MutationnovelE806D0.13
UCECchr916437093Silentrs529654936S367S0.17
UCECchr916437201SilentnovelV331V0.25
UCECchr9164129233'UTRnovel0.34
UCECchr916419284Missense_Mutationrs752799809S1002L0.46
UCECchr916552747Missense_Mutationrs752429719T151M0.36
UCECchr9164172323'UTRnovel0.36
UCECchr916728102Intronnovel0.41
UCECchr9164096173'UTRnovel0.32
UCECchr9164126933'UTRnovel0.34
UCECchr9164128673'UTRrs5483575020.44
UCECchr9164130693'UTRnovel0.23
UCECchr9164179113'UTRnovel0.45
UCECchr916429753Intronnovel0.28
UCECchr916436008Missense_Mutationrs565251984S729L0.35
UCECchr9164178483'UTRnovel0.26
UCECchr9164096693'UTRnovel0.4
UCECchr9164117243'UTRnovel0.5
UCECchr9164164013'UTRnovel0.52
UCECchr916436243Missense_Mutationrs767945913D651N0.35
UCECchr916738414Silentrs761711333D25D0.38
UCECchr9164127083'UTRnovel0.31
UCECchr916437481Missense_MutationnovelR238P0.13
UCECchr916436298Frame_Shift_InsnovelP633Afs*110.25
UCECchr916437351SilentnovelD281D0.21
UCECchr916728155Intronnovel0.09
UCECchr916419079SilentNAC1070C0.05
UCECchr9164185603'UTRnovel0.48
UCECchr9164112253'UTRnovel0.2
UCECchr9164113453'UTRnovel0.28
UCECchr9164187163'UTRnovel0.22
UCECchr916419526SilentnovelY921Y0.34
UCECchr916552570Missense_MutationnovelG210D0.24
UCECchr916437023Missense_MutationNAT391A0.19
UCECchr9164116343'UTRnovel0.48
UCECchr9164167163'UTRrs132977290.35
UCECchr916437266Missense_MutationnovelH310Y0.38
UCECchr916435938SilentnovelV752V0.32
UCECchr916436834Missense_MutationNAG454S0.22
UCECchr916419319Silentrs771686515L990L0.56
UCECchr916436134Missense_MutationNAS687Y0.58
UCECchr916436971Missense_MutationnovelS408Y0.16zf-C2H2
UCECchr916437449Missense_MutationNAL249M0.44
UCECchr916419549Missense_MutationNAD914N0.37
UCECchr9164180743'UTRnovel0.39
UCECchr916437248Missense_Mutationrs771427273P316S0.41
UCECchr916437510Frame_Shift_InsnovelK228Nfs*600.13
UCECchr916437511Missense_MutationnovelK228R0.13
UCECchr916727884SilentNAF81F0.3
UCECchr916728035Intronnovel0.32
UCECchr9164128043'UTRnovel0.06
UCECchr916435674SilentnovelK840K0.26
UCECchr916435992Silentrs376030025G734G0.32
UCECchr916437295Missense_MutationnovelH300R0.23
UCECchr916552576Missense_MutationnovelG208D0.15
UCECchr916704765IntronNA1
UCECchr916419348Missense_Mutationrs201719018D981N0.29
UCECchr9164105233'UTRnovel0.56
UCECchr9164123303'UTRnovel0.74
UCECchr916419332Missense_MutationnovelE986G0.33
UCECchr916552577Missense_Mutationrs763866782G208S0.27
UCECchr9164096073'UTRnovel0.41
UCECchr9164169903'UTRnovel0.4
UCECchr916436246Missense_Mutationrs138108118A650T0.41
UCECchr9164123513'UTRnovel0.25
UCECchr916419057Nonsense_MutationnovelR1078*0.29
UCECchr916436537Missense_MutationNAP553S0.34
UCECchr916437093Silentrs529654936S367S0.33
UCECchr916552715Missense_Mutationrs760540854I162V0.32
UCECchr916728080Intronnovel0.33
UCSchr916419176Missense_MutationnovelN1038S0.41

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
LAMLDEL0.00520.24147
TGCTDEL0.35337.3329e-05
THCADEL0.03210.24038
THYMDEL0.03250.022012

Survival Analysis
CancerP-value Q-value
STAD0.011

Kaplan-Meier Survival Analysis

UCS0.01

Kaplan-Meier Survival Analysis

ESCA0.034

Kaplan-Meier Survival Analysis

BLCA0.0044

Kaplan-Meier Survival Analysis

LAML0.025

Kaplan-Meier Survival Analysis

UCEC0.019

Kaplan-Meier Survival Analysis

GBM0.022

Kaplan-Meier Survival Analysis

LIHC0.0029

Kaplan-Meier Survival Analysis

LGG0.015

Kaplan-Meier Survival Analysis

THCA0.023

Kaplan-Meier Survival Analysis

UVM0.025

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBDs
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000173068 (Gene tree)
Gene ID
54796
Gene Symbol
BNC2
Alias
BSN2|FLJ20043
Full Name
basonuclin 2
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
461,341 bases
Position
chr9:16,409,503-16,870,843
Accession
30988
RBP type
canonical RBP
Summary
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP00000370042zf-C2H2PF00096.261.1e-0911
ENSP00000370047zf-C2H2PF00096.261.8e-0911
ENSP00000370042zf-metPF12874.75.5e-0711
ENSP00000370047zf-metPF12874.77.8e-0711
ENSP00000444640zf-metPF12874.71.1e-0511
ENSP00000408370zf-metPF12874.71.8e-0511
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000603713BNC2-2121008-ENSP00000474045245 (aa)-Q06HB9
ENST00000418777BNC2-2053673XM_017014826ENSP00000408370860 (aa)XP_016870315H0Y6W5
ENST00000484726BNC2-2084841-ENSP00000431516903 (aa)-Q6ZN30
ENST00000471301BNC2-207745-ENSP0000047483243 (aa)-S4R3X5
ENST00000617779BNC2-214687-ENSP0000048279340 (aa)-Q06HC7
ENST00000545497BNC2-2103750XM_017014824ENSP00000444640729 (aa)XP_016870313F5H586
ENST00000411752BNC2-2042106-ENSP00000392212327 (aa)-H0Y4J1
ENST00000468187BNC2-206662-ENSP00000474468109 (aa)-S4R3K9
ENST00000613349BNC2-213561-ENSP0000047771740 (aa)-Q06HC7
ENST00000380666BNC2-2011211-ENSP00000370041294 (aa)-A0A1B0GX98
ENST00000380667BNC2-2023361-ENSP000003700421032 (aa)-B1APH0
ENST00000380672BNC2-20312844XM_011517924ENSP000003700471099 (aa)XP_011516226Q6ZN30
ENST00000486514BNC2-209688-ENSP00000474647164 (aa)-S4R3R8
ENST00000603313BNC2-211545-ENSP00000473935121 (aa)-S4R351
Gene Model
Click here to download ENSG00000173068's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000173068Blood Pressure1.80620699723046E-717903302
ENSG00000173068Hemoglobin A, Glycosylated1.1210000E-00619875614
ENSG00000173068Hemoglobin A, Glycosylated7.1300000E-00719875614
ENSG00000173068Hemoglobin A, Glycosylated7.4470000E-00719875614
ENSG00000173068Hemoglobin A, Glycosylated2.9010000E-00519875614
ENSG00000173068Hemoglobin A, Glycosylated4.6140000E-00519875614
ENSG00000173068Hemoglobin A, Glycosylated3.7590000E-00719875614
ENSG00000173068Cholesterol, HDL5.08e-005-
ENSG00000173068Fibrinogen3.082e-005-
ENSG00000173068Body Height5.2030000E-005-
ENSG00000173068Body Height9.4660000E-005-
ENSG00000173068Body Height3.4660000E-005-
ENSG00000173068Body Height1.2030000E-005-
ENSG00000173068Body Height2.2910000E-005-
ENSG00000173068Body Weight4.1320000E-005-
ENSG00000173068Blood Pressure8.4200000E-005-
ENSG00000173068Platelet Function Tests1.7944929E-006-
ENSG00000173068Platelet Function Tests4.1943794E-006-
ENSG00000173068Platelet Function Tests1.1401200E-005-
ENSG00000173068Fructose-Bisphosphate Aldolase3.0100000E-005-
ENSG00000173068Selenium4.3590000E-005-
ENSG00000173068Melanosis4E-1020585627
ENSG00000173068Asthma1E-625918132
ENSG00000173068Toluene 2,4-Diisocyanate1E-625918132
ENSG00000173068Heart Failure7E-723934736
ENSG00000173068Auditory Cortex9E-625130324
ENSG00000173068Scoliosis5E-826211971
ENSG00000173068Bronchodilator Agents1E-726634245
ENSG00000173068Lung Volume Measurements1E-726634245
ENSG00000173068Pulmonary Disease, Chronic Obstructive1E-726634245
ENSG00000173068Scoliosis2E-1326211971
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000173068rs1538101916710872?Velopharyngeal dysfunction29855589[NR] unit decrease0.12483839EFO_0009336
ENSG00000173068rs10962612916804169TLow tan response29739929[0.041-0.167] unit decrease0.104EFO_0004279
ENSG00000173068rs141457510916489762CNon-melanoma skin cancer29739929[1.19-1.51]1.3428588EFO_0009260
ENSG00000173068rs1337391916611694AHeschl's gyrus morphology25130324unit decrease14.38EFO_0005852
ENSG00000173068rs189669683916810447CPost bronchodilator FEV1/FVC ratio in COPD26634245NR unit increase0.129GO_0097366|EFO_0000341|EFO_0004713
ENSG00000173068rs3904778916681995GAdolescent idiopathic scoliosis26211971[1.15-1.27]1.21EFO_0005423
ENSG00000173068rs3904778916681995GAdolescent idiopathic scoliosis26211971[1.14-1.28]1.21EFO_0005423
ENSG00000173068rs10124550916512750AMetabolite levels (Pyroglutamine)23934736[0.09-0.21] unit increase0.16EFO_0005408
ENSG00000173068rs2050617916638462?Lobe attachment (rater-scored or self-reported)29198719EFO_0007667
ENSG00000173068rs7036453916732737CHeel bone mineral density28869591[0.038-0.091] unit increase0.0645695EFO_0009270
ENSG00000173068rs7036453916732737CHeel bone mineral density28869591[0.04-0.075] unit increase0.0573106EFO_0009270
ENSG00000173068rs10810635916795243CFreckles29895819[1.25-1.39]1.3157895EFO_0003963
ENSG00000173068rs2153271916864523CFreckling20585627[NR] unit decrease0.4EFO_0003963
ENSG00000173068rs76780579916414508ADiisocyanate-induced asthma25918132[3.52-329.69]34.08EFO_0006995|EFO_0000270
ENSG00000173068rs7874842916476973?Reaction time29844566[0.0045-0.0114] unit decrease0.007939EFO_0008393
ENSG00000173068rs7036453916732737?Heel bone mineral density30048462[0.028-0.05] unit increase0.0387295EFO_0009270
ENSG00000173068rs1927625916439785?Heel bone mineral density30048462[0.024-0.04] unit increase0.032157EFO_0009270
ENSG00000173068rs10756762916563125?Heel bone mineral density30048462[0.018-0.026] unit decrease0.0222445EFO_0009270
ENSG00000173068rs4961733916686329?Heel bone mineral density30048462[0.024-0.034] unit decrease0.0290091EFO_0009270
ENSG00000173068rs113477878916542760CHeel bone mineral density30598549[0.019-0.036] unit increase0.0275108EFO_0009270
ENSG00000173068rs10756762916563125THeel bone mineral density30598549[0.014-0.021] unit decrease0.0174498EFO_0009270
ENSG00000173068rs4961733916686329GHeel bone mineral density30598549[0.019-0.028] unit decrease0.0231928EFO_0009270
ENSG00000173068rs10116857916595651?Body mass index30595370EFO_0004340
ENSG00000173068rs10962547916712249?Body mass index30595370EFO_0004340
ENSG00000173068rs10756785916700839?Adolescent idiopathic scoliosis30395268[1.14-1.28]1.21EFO_0005423
ENSG00000173068rs10962599916795288?Blond vs. brown/black hair color30531825NR1.0936134EFO_0003924
ENSG00000173068rs7865762916805334?Brown vs. black hair color30531825NR1.0914648EFO_0003924
ENSG00000173068rs4961729916676603AAdventurousness30643258[0.0085-0.0178] unit increase0.013137849EFO_0008579
ENSG00000173068rs10810603916740857?White blood cell count30595370EFO_0004308
ENSG00000173068rs12115663916517955?Hair color30595370EFO_0007822
ENSG00000173068rs10756796916730976?Eczema30595370HP_0000964
ENSG00000173068rs11790341916637267?Lung function (FEV1/FVC)30595370EFO_0004713
ENSG00000173068rs10962638916846113ABody fat distribution (leg fat ratio)30664634NR unit increase (replication)0.02122EFO_0004341
ENSG00000173068rs10962638916846113ABody fat distribution (leg fat ratio)30664634NR unit increase (replication)0.01535EFO_0004341
ENSG00000173068rs16934621916414758AResistant hypertension30237584[NR]1.43EFO_1002006
ENSG00000173068rs10756762916563125?Heel bone mineral density30595370EFO_0009270
ENSG00000173068rs4961733916686329?Heel bone mineral density30595370EFO_0009270
ENSG00000173068rs10962638916846113ABody fat distribution (trunk fat ratio)30664634NR unit decrease (replication)0.01977EFO_0004341
ENSG00000173068rs10962638916846113ABody fat distribution (trunk fat ratio)30664634NR unit decrease (replication)0.01441EFO_0004341
ENSG00000173068rs10810603916740857ASmoking initiation (ever regular vs never regular) (MTAG)30643251[0.0054-0.0106] unit increase0.00800154EFO_0006527
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000173068's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000173068BNC28969.725ENSAPOG00000004483BNC19941.055Acanthochromis_polyacanthus
ENSG00000173068BNC2100100.000ENSAMEG00000012362BNC29998.209Ailuropoda_melanoleuca
ENSG00000173068BNC28770.093ENSAMEG00000014505BNC18353.704Ailuropoda_melanoleuca
ENSG00000173068BNC28769.725ENSACIG00000018353BNC19945.480Amphilophus_citrinellus
ENSG00000173068BNC210092.742ENSACIG00000018850bnc29968.371Amphilophus_citrinellus
ENSG00000173068BNC28769.406ENSAOCG00000017473BNC19942.015Amphiprion_ocellaris
ENSG00000173068BNC28668.235ENSAPEG00000003635BNC19941.337Amphiprion_percula
ENSG00000173068BNC28969.725ENSATEG00000012626BNC18670.718Anabas_testudineus
ENSG00000173068BNC27982.353ENSAPLG00000005793BNC16755.882Anas_platyrhynchos
ENSG00000173068BNC29495.307ENSAPLG00000008295BNC29989.527Anas_platyrhynchos
ENSG00000173068BNC28563.462ENSACAG00000017743BNC210063.462Anolis_carolinensis
ENSG00000173068BNC28769.626ENSACAG00000013670BNC19953.968Anolis_carolinensis
ENSG00000173068BNC28770.423ENSANAG00000027373BNC19951.429Aotus_nancymaae
ENSG00000173068BNC2100100.000ENSANAG00000035051BNC210099.516Aotus_nancymaae
ENSG00000173068BNC28769.725ENSACLG00000025966BNC19943.931Astatotilapia_calliptera
ENSG00000173068BNC210092.742ENSACLG00000022554bnc29869.988Astatotilapia_calliptera
ENSG00000173068BNC27592.935ENSAMXG00000034212bnc29861.871Astyanax_mexicanus
ENSG00000173068BNC28180.851ENSAMXG00000013189BNC17379.487Astyanax_mexicanus
ENSG00000173068BNC210099.660ENSBTAG00000003669BNC29997.917Bos_taurus
ENSG00000173068BNC29957.692ENSBTAG00000015462BNC19952.174Bos_taurus
ENSG00000173068BNC29166.667ENSCJAG00000015761BNC19951.429Callithrix_jacchus
ENSG00000173068BNC2100100.000ENSCJAG00000012578BNC210099.516Callithrix_jacchus
ENSG00000173068BNC28767.290ENSCAFG00000013219BNC18255.556Canis_familiaris
ENSG00000173068BNC2100100.000ENSCAFG00000001562BNC29998.209Canis_familiaris
ENSG00000173068BNC28966.667ENSCAFG00020015886BNC18355.556Canis_lupus_dingo
ENSG00000173068BNC2100100.000ENSCAFG00020012831BNC29998.580Canis_lupus_dingo
ENSG00000173068BNC210099.320ENSCHIG00000026061BNC29997.382Capra_hircus
ENSG00000173068BNC28769.953ENSCHIG00000019726BNC19952.174Capra_hircus
ENSG00000173068BNC28767.606ENSTSYG00000004934BNC18155.556Carlito_syrichta
ENSG00000173068BNC2