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
17020779Prognostic value of humbug gene overexpression in stage II colon cancer.Hum Pathol2007 JanWang J-
16673309Detection of human aspartyl (asparaginyl) beta-hydroxylase and homeobox B7 mRNA in brush cytology specimens from patients with bile duct cancer.Endoscopy2006 JunFeldmann G-
19200576Prognostic value of aspartyl (asparaginyl)-beta-hydroxylase/humbug expression in non-small cell lung carcinoma.Hum Pathol2009 MayLuu Mdoi: 10.1016/j.humpath.2008.11.001
18288418Overexpression of humbug promotes malignant progression in human gastric cancer cells.Oncol Rep2008 MarLee JH-
29737090[Expression of ASPH Gene in Invasive Breast Cancer and Its Clinical Significance in Promoter Methylation].Sichuan Da Xue Xue Bao Yi Xue Ban2018 JanLi C-

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr861684053Missense_Mutationrs768498732Y80C0.19
BLCAchr861676203Intronrs3714848540.52
BLCAchr861682453Intronnovel0.61
BLCAchr861578504Intronnovel0.09
BLCAchr861651110Missense_Mutationrs758840739E144K0.44
BLCAchr861680989Missense_MutationnovelD101N0.18
BLCAchr861526020SilentNAL619L0.12
BLCAchr861646823Silentrs777861394E182E0.07
BLCAchr861578724Intronnovel0.72
BLCAchr861578389Intronnovel0.15
BLCAchr861553033Missense_MutationnovelE542K0.32
BLCAchr861578763Intronnovel0.19
BLCAchr861579135Intronnovel0.16
BRCAchr861643410Missense_MutationNAD245N0.22
BRCAchr861676313IntronNA0.28
BRCAchr861548134SilentNAV567V0.31
BRCAchr861578661Intronnovel0.49
BRCAchr861579353Intronnovel0.2
BRCAchr861653600Frame_Shift_DelnovelH127Lfs*650.1
BRCAchr861651082Missense_MutationNAS153C0.23
BRCAchr861579104Intronnovel0.32
BRCAchr861664907Intronnovel0.21
BRCAchr861579488Intronnovel0.05
BRCAchr861665528Intronnovel0.08
BRCAchr861579363Intronnovel0.12
BRCAchr861578696Intronnovel0.21
BRCAchr861626089Intronnovel0.23
BRCAchr861518112Nonsense_MutationNAE638*0.14
BRCAchr861567175Missense_MutationNAQ431H0.21
BRCAchr861646823Missense_MutationNAE182D0.12
BRCAchr861503366Missense_MutationnovelA757G0.08
CESCchr861653645Missense_MutationNAS113C0.21
CESCchr861579092Intronnovel0.07
CESCchr861633725Missense_MutationNAV298L0.32
CESCchr861553102Missense_MutationnovelD519N0.4
CESCchr861689737Intronnovel0.23
CESCchr861579055Intronnovel0.09
CESCchr861576825Nonsense_MutationnovelE366*0.35
CESCchr861583978Missense_MutationnovelA343V0.35
CESCchr861618979Missense_MutationnovelK325N0.45
CESCchr861665336Intronrs7754623850.39
CESCchr861518070Missense_Mutationrs140478604E652K0.28
CESCchr861624760Intronnovel0.24
CESCchr861503485SilentNAL717L0.31
CESCchr861562797Missense_Mutationrs200072789V462M0.29
CESCchr861553033Missense_MutationNAE542Q0.28
CESCchr861578628Intronnovel0.45
COADchr861548191SilentNAE548E0.43
COADchr861646785Missense_MutationNAR195K0.12
COADchr861626217Intronnovel0.26
COADchr861633714Frame_Shift_DelnovelP302Lfs*330.27
COADchr861665255Intronnovel0.29
COADchr861665507Intronnovel0.36
COADchr861665530Intronnovel0.07
COADchr861689737Intronnovel0.44
COADchr861689737Intronnovel0.57
COADchr861689737Intronnovel0.3
COADchr861682466Intronrs7733009020.2
COADchr861583995Missense_Mutationrs746450205F337L0.31
COADchr861578629Intronnovel0.4
COADchr8615032773'UTRnovel0.55
COADchr861578732Intronnovel0.34
COADchr861684150Missense_MutationnovelG48R0.33
COADchr861689737Intronnovel0.16
COADchr861579239Intronnovel0.59
COADchr861633713Frame_Shift_InsNAP302Sfs*140.37
COADchr861562798Silentrs753353393G461G0.26
COADchr861578707Intronnovel0.23
COADchr861633699SilentnovelQ306Q0.17
COADchr861665235Intronnovel0.04
COADchr861689737Intronnovel0.63
COADchr861626127Intronnovel0.2
COADchr861665425IntronNA0.16
COADchr861689697Intronnovel0.26
COADchr861689737Intronnovel0.23
COADchr861553105Missense_MutationNAG518R0.25
COADchr861579469Intronnovel0.55
COADchr861684184Frame_Shift_DelNAT36Kfs*400.38
COADchr861567298SilentNAE390E0.4
COADchr861584025Missense_MutationNAK327N0.37
COADchr861638331Nonsense_MutationNAE275*0.18
COADchr861689737Intronnovel0.27
COADchr861555981Missense_MutationnovelH493Q0.25
COADchr861651100Missense_MutationNAA147V0.09
DLBCchr861517535Missense_Mutationrs755727749E707K0.17
ESCAchr861579086Intronnovel0.25
ESCAchr861579411Intronnovel0.06
ESCAchr861579413Intronnovel0.05
ESCAchr861579531IntronNA0.11
ESCAchr861646810Missense_MutationnovelL187V0.19
ESCAchr861579531IntronNA0.06
ESCAchr861579531IntronNA0.05
ESCAchr861578618IntronNA0.26
ESCAchr861578618IntronNA0.16
ESCAchr861665344Intronnovel0.29
ESCAchr861579552Intronnovel0.25
ESCAchr861578326Intronnovel0.38
GBMchr861579306Intronnovel0.17
GBMchr861651101Missense_MutationnovelA147S0.06
GBMchr861503506SilentnovelT710T0.28
GBMchr861548097Nonsense_MutationnovelE580*0.04
GBMchr861578792Intronnovel0.05
HNSCchr861517647SilentnovelI669I0.26
HNSCchr861642891Nonsense_MutationnovelQ263*0.53
HNSCchr861633721Missense_Mutationrs111708484S299N0.11
HNSCchr861665406Intronnovel0.36
HNSCchr861526028Missense_MutationnovelE617K0.3
HNSCchr861578726Intronnovel0.19
HNSCchr861665279Intronrs1456787860.3
HNSCchr861526007Missense_MutationnovelD624N0.11
HNSCchr861503466Missense_MutationnovelE724Q0.28
HNSCchr861583972Missense_MutationnovelL345H0.22
HNSCchr861578460Intronnovel0.13
HNSCchr861653624Missense_Mutationrs773407540P120L0.2
HNSCchr861689705Intronnovel0.15
HNSCchr861518053SilentnovelT657T0.06
HNSCchr861526008SilentnovelG623G0.42
HNSCchr861562829Missense_MutationnovelP451L0.18
HNSCchr861643980Missense_MutationnovelD225A0.27
KIRCchr861665220Intronnovel0.36
KIRCchr861676268IntronNA0.21
KIRCchr861665374Intronnovel0.03
KIRPchr861578688Intronnovel0.24
KIRPchr861643964Missense_MutationnovelM230I0.47
KIRPchr861579336Intronnovel0.35
KIRPchr861576808Nonsense_MutationnovelY371*0.04
KIRPchr861548191SilentNAE548E0.4
KIRPchr861665175Intronnovel0.41
KIRPchr861578433Intronnovel0.32
KIRPchr861578508Intronnovel0.55
LAMLchr861576835Missense_MutationnovelN362K0.12
LGGchr861643993Missense_MutationnovelD221Y0.24
LGGchr861548150Missense_Mutationrs771474720R562H0.36
LGGchr861562827Missense_MutationnovelN452D0.33
LGGchr861579519Intronnovel0.45
LGGchr861651060Silentrs759403041H160H0.35
LIHCchr861578254Intronnovel0.43
LIHCchr861562751Missense_MutationNAY477F0.13
LIHCchr861681024Missense_MutationNAI89T0.3
LIHCchr8615032193'UTRnovel0.33
LIHCchr861689737Intronnovel0.15
LUADchr861578599Intronnovel0.52
LUADchr861637978SilentNAN286N0.08
LUADchr861665236Intronnovel0.32
LUADchr861680989Missense_MutationnovelD101Y0.16
LUADchr861665374Intronnovel0.06
LUADchr861578651Intronnovel0.06
LUADchr861562783Missense_MutationnovelL466F0.17
LUADchr861689783Intronnovel0.4
LUADchr861578385Intronnovel0.11
LUADchr861553049Missense_MutationnovelQ536H0.04
LUADchr861517636Missense_MutationnovelG673V0.28
LUADchr861517620Silentrs368974538P678P0.09
LUADchr861578702Intronnovel0.22
LUADchr861665581Intronnovel0.21
LUADchr861684102Missense_MutationnovelL64V0.23
LUADchr861579652Intronnovel0.11
LUADchr861578528Intronnovel0.19
LUADchr861526084Missense_MutationNAR598L0.25
LUADchr861553105Nonsense_MutationnovelG518*0.25
LUSCchr8615033393'UTRnovel0.35
LUSCchr861684088SilentnovelT68T0.25
LUSCchr861578946Intronnovel0.41
LUSCchr861517563SilentNAK697K0.39
LUSCchr861642901Silentrs760719359V259V0.23
LUSCchr861676182Intronnovel0.14
LUSCchr861548177Missense_MutationnovelR553K0.21
LUSCchr861665101Intronnovel0.59
LUSCchr861548180Missense_MutationnovelK552R0.32
LUSCchr861638005Splice_Regionnovel0.08
LUSCchr861684190Splice_Regionnovel0.11
LUSCchr861567272Missense_MutationNAR399L0.2
LUSCchr861579531IntronNA0.1
LUSCchr861578976Intronnovel0.14
LUSCchr861518062SilentNAF654F0.38
LUSCchr861562817Missense_MutationNAS455F0.29
LUSCchr861578463Intronnovel0.44
LUSCchr861518104SilentnovelA640A0.37
LUSCchr861643984Nonsense_MutationNAQ224*0.31
LUSCchr861665472Intronnovel0.43
LUSCchr861562795SilentnovelV462V0.35
LUSCchr861553080Missense_MutationnovelR526T0.03
LUSCchr861675969Intronnovel0.15
LUSCchr861525991Missense_Mutationrs199833011T629M0.29
LUSCchr861676062Intronnovel0.22
MESOchr861626254Intronnovel0.38
OVchr861579303Intronnovel0.09
OVchr861576792Missense_MutationNAA377P0.47
OVchr861579183Intronnovel0.52
OVchr861578883Intronnovel0.2
OVchr861643389Missense_MutationNAT252P0.13
OVchr861689726Intronrs2021151460.14
OVchr861638005Splice_SitenovelX278_splice0.25
OVchr861579618Intronnovel0.29
OVchr861526011SilentnovelK622K0.14
PAADchr861548098Missense_MutationNAK579N0.2
PAADchr861553052Missense_Mutationrs754531033M535I0.18
PCPGchr861684125Missense_Mutationrs149440176T56M0.08
PRADchr861626212Intronnovel0.27
PRADchr861579289Intronnovel0.2
PRADchr861576776Missense_Mutationrs749737562A382V0.39
PRADchr861517628Missense_Mutationrs745483367V676M0.34
PRADchr861579333Intronnovel0.06
READchr861643948Missense_MutationNAP236S0.23
READchr861578950Intronnovel0.07
READchr861517536Silentrs554349058N706N0.55
READchr861503418Missense_Mutationrs762826838V740M0.4
READchr861583999Missense_MutationnovelK336T0.42
READchr861665051Intronnovel0.44
READchr861665149Intronnovel0.16
READchr861668235IntronNA0.41
READchr861578238Intronnovel0.31
READchr861664800Intronnovel0.29
SARCchr861646807Missense_MutationnovelM188L0.57
SARCchr861503377SilentnovelR753R0.15
SARCchr861526094Missense_MutationnovelK595E0.17
SARCchr861517593SilentnovelL687L0.25
SARCchr861624915Intronnovel0.33
SARCchr861626261Intronnovel0.17
SARCchr861646810Missense_MutationnovelL187F0.29
SKCMchr861503438Missense_MutationNAS733F0.31
SKCMchr861653625Missense_MutationnovelP120S0.51
SKCMchr861578490Intronnovel0.46
SKCMchr861665214Intronnovel0.31
SKCMchr861553069Missense_MutationnovelH530Y0.25
SKCMchr861579595Intronnovel0.15
SKCMchr861642894Missense_MutationNAE262K0.33
SKCMchr861576834Missense_MutationnovelA363P0.08
SKCMchr861578369Intronnovel0.22
SKCMchr861681008SilentNAG94G0.36
SKCMchr861578459Intronnovel0.42
SKCMchr861638356Nonsense_MutationNAY266*0.34
SKCMchr861653593Silentrs575705988P130P0.46
SKCMchr861643392Missense_MutationnovelD251N0.17
SKCMchr861567226SilentNAV414V0.28
SKCMchr861579034Intronnovel0.35
SKCMchr861579290Intronnovel0.25
SKCMchr861517568Missense_MutationNAP696S0.14
SKCMchr861579137Intronnovel0.18
SKCMchr861579008Intronnovel0.2
SKCMchr861553107Missense_MutationNAS517F0.18
SKCMchr861676225Intronnovel0.15
SKCMchr861579630Intronnovel0.25
SKCMchr861579631Intronnovel0.24
SKCMchr861665232Intronnovel0.15
SKCMchr861578917Intronnovel0.37
SKCMchr861578918Intronnovel0.36
SKCMchr8615032583'UTRnovel0.26
SKCMchr861578234Intronnovel0.77
SKCMchr861562815SilentNAL456L0.36
SKCMchr861576807Missense_Mutationrs760581343P372S0.43
SKCMchr861576808Silentrs763769704Y371Y0.42
SKCMchr861567229SilentnovelD413D0.43
SKCMchr861578460Intronnovel0.17
SKCMchr861579336Intronnovel0.34
SKCMchr861555936Silentrs575763342I508I0.41
STADchr861578612Intronnovel0.35
STADchr861503432Missense_Mutationrs371485848R735Q0.13
STADchr861665190Intronnovel0.08
STADchr861567257Missense_MutationNAT404I0.09
STADchr861562777SilentNAG468G0.19
STADchr861553080Missense_MutationnovelR526I0.05
STADchr861651110Missense_Mutationrs758840739E144K0.35
STADchr861578840Intronnovel0.13
STADchr861503461Silentrs112982646H725H0.16
STADchr861579349Intronnovel0.21
STADchr861680996Frame_Shift_DelnovelF98Lfs*100.17
STADchr861562797Missense_Mutationrs200072789V462M0.31
STADchr861517541Missense_Mutationrs749030670A705T0.1
STADchr861578267Intronnovel0.22
STADchr861579218Intronnovel0.2
STADchr861637979Missense_MutationNAN286S0.15
STADchr861579531IntronNA0.12
STADchr861579009Intronnovel0.15
STADchr861579293IntronNA0.07
STADchr861567300Missense_MutationnovelE390Q0.09
STADchr861579043Intronnovel0.14
STADchr861517596SilentNAR686R0.31
STADchr861579020Intronnovel0.47
STADchr861553106Silentrs373467138S517S0.17
STADchr861578640Intronnovel0.2
STADchr861676229Intronnovel0.11
STADchr861676271Intronnovel0.1
STADchr861643426SilentNAS239S0.21
THCAchr861665374Intronnovel0.11
THCAchr861665375Intronnovel0.07
UCECchr861579458Intronnovel0.58
UCECchr861579590Intronnovel0.4
UCECchr861578394Intronnovel0.1
UCECchr861562757Missense_MutationNAK475R0.27
UCECchr861664908Intronnovel0.13
UCECchr861664977Intronnovel0.35
UCECchr861676235Intronnovel0.09
UCECchr861684165Missense_MutationnovelN43H0.1
UCECchr861624788Intronnovel0.47
UCECchr861633706Missense_MutationnovelE304G0.41
UCECchr861651110Missense_Mutationrs758840739E144K0.44
UCECchr861689737Intronnovel0.44
UCECchr861681037Splice_SitenovelX85_splice0.28
UCECchr861579291Intronnovel0.1
UCECchr861584025Missense_MutationNAK327N0.41
UCECchr861651095Nonsense_MutationnovelE149*0.47
UCECchr861653648Missense_MutationnovelR112I0.36
UCECchr861576791Missense_MutationnovelA377V0.54
UCECchr861665406Intronrs7580205730.15
UCECchr861503433Missense_Mutationrs374385878R735W0.5
UCECchr861567261Missense_Mutationrs368575612E403K0.11
UCECchr861676137Intronrs3740336750.28
UCECchr861684097Silentrs202006022G65G0.1
UCECchr861579123Intronnovel0.24
UCECchr861548150Missense_Mutationrs771474720R562H0.17
UCECchr861579307Intronnovel0.39
UCECchr861665085Intronnovel0.19
UCECchr861665194Intronnovel0.12
UCECchr861689679Intronnovel0.26
UCECchr861548191Missense_MutationNAE548D0.25
UCECchr861644627Missense_Mutationrs201124803E209K0.2
UCECchr861646814Missense_MutationNAE185D0.44
UCECchr861665561Intronnovel0.06
UCECchr861579326Intronnovel0.48
UCECchr861576825Nonsense_MutationnovelE366*0.42
UCECchr861625015Intronnovel0.31
UCECchr861518112Nonsense_MutationNAE638*0.49
UCECchr861578240Intronnovel0.09
UCECchr861578810Intronnovel0.12
UCECchr861624985Intronnovel0.54
UCECchr861626169Intronnovel0.37
UCECchr861646823Silentrs777861394E182E0.25
UCECchr861689679Intronnovel0.34
UCECchr861578361Intronnovel0.36
UCECchr861579233IntronNA0.19
UCECchr861624760Intronnovel0.21
UCECchr861651058Missense_MutationnovelA161V0.33
UCECchr861676196Intronnovel0.19
UCECchr861526085Nonsense_MutationnovelR598*0.45
UCECchr861626256Intronnovel0.42
UCECchr861665521Intronnovel0.42
UCECchr861684174Nonsense_MutationNAG40*0.5
UCECchr861579501Intronnovel0.26
UCECchr861665190Intronnovel0.47
UCECchr861578617Intronnovel0.59
UCECchr861624788Intronnovel0.4
UCECchr861625339Intronnovel0.48
UCECchr861638331Nonsense_MutationNAE275*0.29
UCECchr861684140Missense_MutationnovelG51E0.63
UCECchr8615032773'UTRnovel0.27
UCECchr861665601Intronrs7526026440.53
UCECchr861576802Missense_MutationNAQ373H0.22
UCECchr861665049Intronnovel0.33
UCECchr861556014Missense_MutationNAS482R0.1
UCECchr861579090Intronnovel0.18
UCECchr8615032773'UTRnovel0.23
UCECchr861526085Nonsense_MutationnovelR598*0.36
UCECchr8615032773'UTRnovel0.25
UCECchr861576809Missense_Mutationrs776684832Y371S0.43
UCECchr861665501Intronrs5554328490.21
UCECchr861503458Missense_MutationNAE726D0.25
UCECchr861578947Intronnovel0.34
UCECchr861665502Intronrs7460602820.36
UCECchr861578639Intronnovel0.35
UCECchr861689697Intronnovel0.54
UCECchr861675831Intronnovel0.12
UCECchr861562786SilentnovelL465L0.1
UCECchr861578830Intronnovel0.11
UCECchr861638004Splice_SitenovelX278_splice0.17
UCECchr861651095Nonsense_MutationnovelE149*0.43
UCECchr861676033Intronnovel0.29
UCECchr861579618Intronnovel0.26
UCECchr861665483Intronnovel0.21
UCECchr861518077SilentnovelT649T0.32
UCECchr861646823Missense_MutationNAE182D0.29
UCECchr861555940Missense_MutationnovelS507N0.07
UCECchr861684075Missense_Mutationrs774320459V73I0.4
UCECchr861626152Intronnovel0.32
UCECchr861664906Intronnovel0.25
UCECchr861665560Intronnovel0.38
UCECchr861517547Nonsense_Mutationrs773987662R703*0.16
UCECchr861553060Frame_Shift_DelNAD533Mfs*350.26
UCECchr861651065Missense_Mutationrs767403241V159I0.18
UCECchr861576853SilentnovelK356K0.07
UCECchr861665427IntronNA0.12
UCECchr861643994Missense_MutationNAQ220H0.42
UCECchr861676079Intronnovel0.33
UCECchr861548130Missense_MutationnovelG569R0.2
UCECchr861576776Missense_Mutationrs749737562A382V0.4
UCECchr861578904Intronnovel0.38
UCECchr861633690SilentnovelV309V0.37
UCECchr861665377Intronnovel0.24
UCECchr861689767Intronnovel0.23
UCECchr861651107Missense_MutationnovelD145Y0.4
UCECchr861665527Intronnovel0.01
UCECchr861517600Missense_MutationNAC685Y0.29
UCECchr861665085Intronnovel0.31
UCECchr861553102Missense_MutationnovelD519N0.33
UCECchr861567191Missense_Mutationrs772711048R426H0.46
UCECchr861567280SilentnovelE396E0.45
UCECchr861626095Intronnovel0.62
UCECchr861579065Intronnovel0.32
UCECchr861625346Intronnovel0.56
UCECchr861638341SilentnovelN271N0.14
UCECchr861643399SilentnovelL248L0.25
UCECchr861689680Intronnovel0.41

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
DLBCDEL0.14580.021977
READDEL0.04240.20625
SARCAMP0.26850.18425
THCADEL0.0080.038162

Survival Analysis
CancerP-value Q-value
SARC0.0077

Kaplan-Meier Survival Analysis

MESO0.013

Kaplan-Meier Survival Analysis

ACC0.028

Kaplan-Meier Survival Analysis

HNSC0.037

Kaplan-Meier Survival Analysis

KIRP0.00017

Kaplan-Meier Survival Analysis

COAD0.035

Kaplan-Meier Survival Analysis

PAAD0.00041

Kaplan-Meier Survival Analysis

CESC0.0001

Kaplan-Meier Survival Analysis

LAML0.00027

Kaplan-Meier Survival Analysis

KICH0.013

Kaplan-Meier Survival Analysis

LIHC0.021

Kaplan-Meier Survival Analysis

THCA0.0059

Kaplan-Meier Survival Analysis

LUAD0.0028

Kaplan-Meier Survival Analysis

UVM0.0051

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
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000198363 (Gene tree)
Gene ID
444
Gene Symbol
ASPH
Alias
CASQ2BP1|BAH|JCTN|HAAH
Full Name
aspartate beta-hydroxylase
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
214,085 bases
Position
chr8:61,500,556-61,714,640
Accession
757
RBP type
non-canonical RBP
Summary
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
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
ENST00000519678ASPH-216536-ENSP00000483443134 (aa)-A0A087X0J4
ENST00000522036ASPH-220663--- (aa)--
ENST00000523897ASPH-227871--- (aa)--
ENST00000356457ASPH-2013730XM_024447157ENSP00000348841313 (aa)XP_024302925Q12797
ENST00000517661ASPH-206809XM_024447159ENSP00000428060174 (aa)XP_024302927G3XAN5
ENST00000517928ASPH-210548--- (aa)--
ENST00000445642ASPH-2053717-ENSP00000394013294 (aa)-Q12797
ENST00000517903ASPH-2092658-ENSP00000430245298 (aa)-Q12797
ENST00000522603ASPH-224842-ENSP00000436188210 (aa)-Q12797
ENST00000522919ASPH-2261277-ENSP00000430516163 (aa)-E5RJL3
ENST00000379454ASPH-2035268XM_005251235ENSP00000368767758 (aa)XP_005251292Q12797
ENST00000523927ASPH-228556-ENSP00000478706186 (aa)-A0A087WUJ2
ENST00000517856ASPH-2086337-ENSP00000429743113 (aa)-E5RHJ2
ENST00000519264ASPH-215337-ENSP0000047983044 (aa)-A0A087WW05
ENST00000521499ASPH-218484--- (aa)--
ENST00000520198ASPH-217544--- (aa)--
ENST00000518306ASPH-212755-ENSP00000427877198 (aa)-E5RG29
ENST00000522343ASPH-222329--- (aa)--
ENST00000521909ASPH-219851--- (aa)--
ENST00000522349ASPH-223531-ENSP00000429718136 (aa)-E5RHK2
ENST00000522325ASPH-221665--- (aa)--
ENST00000518068ASPH-2112744-ENSP00000429286270 (aa)-Q12797
ENST00000389204ASPH-2041290-ENSP00000373856225 (aa)-Q12797
ENST00000541428ASPH-2302550XM_005251240ENSP00000437864729 (aa)XP_005251297Q12797
ENST00000524173ASPH-229587-ENSP00000479945195 (aa)-A0A087WW51
ENST00000519234ASPH-2142874-ENSP00000427823327 (aa)-E5RG56
ENST00000518441ASPH-213781--- (aa)--
ENST00000517847ASPH-2071947XM_017013445ENSP00000429954299 (aa)XP_016868934Q12797
ENST00000379449ASPH-2021603-ENSP00000368762203 (aa)-Q12797
ENST00000522835ASPH-2251258XM_017013447ENSP00000429160256 (aa)XP_016868936Q12797
Gene Model
Click here to download ENSG00000198363's gene model file
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000198363rs112760834861627575TBlood protein levels29875488[0.44-0.72] unit decrease0.58EFO_0007937
ENSG00000198363rs142916219861568961GResting heart rate28270201[3.88-8.06] beats per minute increase5.9711304EFO_0004351
ENSG00000198363rs2350923861692700TBRCA1/2-negative high-risk breast cancer30323354[1.16-1.42]1.28EFO_0009443
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000198363's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0004597peptide-aspartate beta-dioxygenase activity-IEAFunction
GO:0005198structural molecule activity11007777.TASFunction
GO:0005509calcium ion binding11007777.NASFunction
GO:0005515protein binding22586105.25416956.IPIFunction
GO:0005783endoplasmic reticulum-IDAComponent
GO:0005789endoplasmic reticulum membrane11007777.NASComponent
GO:0005789endoplasmic reticulum membrane-TASComponent
GO:0005886plasma membrane21062895.IDAComponent
GO:0006936muscle contraction10974562.TASProcess
GO:0007389pattern specification process-IEAProcess
GO:0008285negative regulation of cell proliferation-IEAProcess
GO:0008307structural constituent of muscle11007777.TASFunction
GO:0009055electron transfer activity7821814.TASFunction
GO:0016021integral component of membrane-IEAComponent
GO:0022900electron transport chain-IEAProcess
GO:0031647regulation of protein stability-IEAProcess
GO:0032541cortical endoplasmic reticulum21062895.IDAComponent
GO:0033017sarcoplasmic reticulum membrane-IEAComponent
GO:0034220ion transmembrane transport-TASProcess
GO:0035108limb morphogenesis-IEAProcess
GO:0042264peptidyl-aspartic acid hydroxylation-IEAProcess
GO:0045862positive regulation of proteolysis18387192.IDAProcess
GO:0060021roof of mouth development-IEAProcess
GO:0060325face morphogenesis-IEAProcess
GO:0097202activation of cysteine-type endopeptidase activity18387192.IDAProcess
GO:1901879regulation of protein depolymerization-IEAProcess
GO:1903779regulation of cardiac conduction-TASProcess
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