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
20886430Reduced expression of the membrane skeleton protein beta1-spectrin (SPTBN1) is associated with worsened prognosis in pancreatic cancer.Histol Histopathol2010 DecJiang Xdoi: 10.14670/HH-25.1497.
27496196Lung adenocarcinoma harboring concomitant SPTBN1-ALK fusion, c-Met overexpression, and HER-2 amplification with inherent resistance to crizotinib, chemotherapy, and radiotherapy.J Hematol Oncol2016 Aug 5Gu FFdoi: 10.1186/s13045-016-0296-8.

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr254629332Missense_MutationNAS733L0.19
BLCAchr254655081Missense_MutationNAS1945C0.41
BLCAchr254629249Silentrs573614306I705I0.18
BLCAchr254655920Nonsense_MutationNAE1990*0.29
BLCAchr254629054SilentNAL640L0.22
BLCAchr254621434SilentNAI266I0.3
BLCAchr254655947Missense_MutationnovelR1999W0.14
BLCAchr254529777Intronnovel0.35
BLCAchr254643049Missense_MutationNAL1309V0.16
BLCAchr254599190Nonsense_MutationnovelR83*0.42
BLCAchr254653773SilentnovelF1914F0.42
BLCAchr254668408Missense_Mutationrs540132022E2312K0.14
BLCAchr254629594SilentnovelV820V0.28
BLCAchr254631532Frame_Shift_DelnovelN1163Sfs*230.4
BLCAchr254649857SilentNAK1815K0.17
BLCAchr254632729Nonsense_MutationnovelS1243*0.53
BLCAchr254616284Silentrs374090816Q184Q0.16
BLCAchr2545264185'UTRnovel0.48
BLCAchr254629977Missense_MutationnovelG919R0.29
BLCAchr254629332Missense_MutationNAS733L0.24
BLCAchr254645259Missense_MutationnovelK1434E0.07
BLCAchr254666052Missense_MutationnovelL2266P0.11
BLCAchr254668474Missense_MutationNAV2334L0.48
BLCAchr254631410Missense_MutationNAM1121I0.37
BLCAchr254647160SilentNAK1632K0.23
BLCAchr254664498Nonsense_MutationnovelE2156*0.27
BLCAchr254655148SilentNAF1967F0.17
BLCAchr254632665Missense_MutationnovelE1222Q0.28
BLCAchr254612217Frame_Shift_DelnovelL120Sfs*30.22
BLCAchr254618082Missense_MutationnovelD218H0.09
BRCAchr254624946Missense_MutationNAQ442P0.38
BRCAchr254632750Missense_MutationNAV1250G0.13
BRCAchr254529618Intronnovel0.36
BRCAchr254558687Intronnovel0.71
BRCAchr254632681Missense_MutationNAA1227G0.85
BRCAchr254625937SilentnovelN449N0.06
BRCAchr254664463Missense_MutationnovelT2144M0.28
BRCAchr254647139SilentNAQ1625Q0.16
BRCAchr254629750Silentrs778526430L872L0.2
BRCAchr254526542Missense_MutationNAR42W0.28
BRCAchr254558693Intronnovel0.13
BRCAchr254644376SilentnovelE1353E0.16
BRCAchr254631389SilentNAY1114Y0.17
BRCAchr254643037Nonsense_MutationNAE1305*0.12
BRCAchr254637731SilentnovelE1262E0.15
BRCAchr254660092Intronnovel0.19
BRCAchr254655078Missense_MutationnovelS1944L0.08
BRCAchr254631227Missense_MutationNAE1060D0.29
BRCAchr254647200Missense_MutationNAE1646K0.22
CESCchr2546687133'UTRnovel0.21
CESCchr254618148Missense_Mutationrs752488873L240V0.18
CESCchr254644464Missense_MutationNAE1383K0.19
CESCchr254646235Silentrs370830282D1542D0.18
CESCchr254626040Missense_MutationnovelV484M0.08
CESCchr254529800Intronnovel0.17
CESCchr254647188Missense_MutationNAE1642K0.57
CESCchr254621466Missense_MutationnovelF277S0.1
CESCchr254629203Missense_MutationnovelR690H0.24
CESCchr254629780Missense_MutationnovelE882D0.32
CESCchr254644462Missense_MutationnovelA1382V0.36
CESCchr254666078Missense_MutationnovelF2275I0.19
CESCchr254637729Missense_MutationNAE1262Q0.26
CESCchr254529588Intronnovel0.56
CESCchr254529726Intronnovel0.72
CESCchr254665921Nonsense_MutationnovelW2222*0.08
CESCchr254667603Splice_SiteNAX2278_splice0.16
CESCchr254632655Missense_MutationnovelM1218I0.08
CESCchr2546694283'UTRnovel0.18
CESCchr254631051Missense_MutationNAE1002K0.31
CESCchr254645226Splice_Regionnovel0.33
CHOLchr254629947Missense_MutationnovelN909D0.5
CHOLchr254631253Missense_MutationnovelR1069L0.2
COADchr254626204Silentrs761984098L538L0.26
COADchr254645965Missense_Mutationrs746665381T1511M0.32
COADchr254558870IntronNA0.39
COADchr254631104Silentrs768214982A1019A0.45
COADchr254668451Missense_Mutationrs748736138A2326V0.28
COADchr254631237Missense_MutationNAL1064V0.21
COADchr254624847Missense_MutationNAA409V0.14
COADchr254617687Missense_MutationNAR216W0.18
COADchr254643062Nonsense_MutationNAW1313*0.32
COADchr254644525Missense_MutationnovelI1403T0.08
COADchr254629766Missense_MutationnovelP878S0.21
COADchr254649737SilentNAT1775T0.36
COADchr254629199Missense_MutationNAG689S0.2
COADchr254622355Missense_MutationNAA311V0.17
COADchr254629032Missense_Mutationrs752181604R633H0.28
COADchr254653613Missense_MutationNAR1861M0.46
COADchr254644509Missense_Mutationrs754643448G1398S0.05
COADchr254657961Missense_MutationNAE2053A0.3
COADchr254629488Missense_MutationNAK785R0.31
COADchr254649850Missense_MutationNAD1813G0.75
COADchr254659997Missense_MutationNAR2140W0.26
COADchr254526568Splice_SiteNAX50_splice0.39
COADchr254622467SilentNAR348R0.3
COADchr254612290Missense_MutationNAR144W0.05
COADchr254646239Missense_MutationnovelI1544V0.18
COADchr254668499Missense_MutationnovelP2342L0.16
COADchr254649645Nonsense_MutationNAR1745*0.25
COADchr254626095Frame_Shift_DelnovelK503Rfs*240.06
COADchr254629504SilentNAA790A0.17
COADchr254526432Missense_MutationnovelV5A0.1
COADchr254645346Missense_Mutationrs201812651V1463M0.12
COADchr254626226Nonsense_MutationnovelE546*0.31
COADchr254616235Missense_MutationNAD168G0.1
COADchr254664682Missense_MutationnovelA2217V0.18
COADchr254645355Missense_MutationNAK1466E0.46
COADchr254621467Missense_MutationNAF277L0.26
COADchr254626007Missense_Mutationrs752434436A473T0.4
COADchr254653669Missense_Mutationrs375121259D1880N0.42
COADchr254668385Missense_MutationNAS2304F0.19
COADchr254629649Missense_Mutationrs749069838R839W0.41
COADchr254659969Silentrs145150707N2130N0.3
COADchr254653604Splice_RegionNA0.28
COADchr254558690Intronnovel0.15
COADchr254668471Missense_Mutationrs772551816V2333I0.11
COADchr254631534Missense_MutationNAN1163H0.15
COADchr254664490Missense_MutationNAG2153D0.21
COADchr254629741In_Frame_InsnovelE869_Q870insT0.15
COADchr254649870Missense_MutationNAR1820C0.16
COADchr254668433Missense_Mutationrs112558321T2320M0.12
ESCAchr254657887Silentrs200669658V2028V0.2
ESCAchr254664622Missense_Mutationrs781460543S2197L0.27
GBMchr254629582SilentNAE816E0.41
GBMchr254645258Missense_MutationnovelK1433N0.19
GBMchr254558607Intronnovel0.17
GBMchr254668358Missense_MutationnovelM2295T0.06
GBMchr254631390Missense_Mutationrs765438423E1115K0.26
GBMchr254645267Silentrs773794373I1436I0.22
GBMchr254668389SilentnovelA2305A0.34
GBMchr254645936SilentnovelV1501V0.09
GBMchr254646289Frame_Shift_DelnovelE1561Rfs*100.07
GBMchr254526482Missense_MutationnovelN22H0.12
GBMchr254526484Missense_MutationnovelN22K0.1
GBMchr254629022Missense_MutationNAR630C0.43
GBMchr254630021SilentNAL933L0.39
GBMchr254631273Missense_MutationnovelS1076P0.5
GBMchr254643068Missense_MutationnovelK1315T0.05
GBMchr254624949Missense_Mutationrs772259760R443H0.27
GBMchr254660109Intronnovel0.1
HNSCchr254664466Missense_MutationnovelV2145G0.15
HNSCchr254629082Missense_MutationnovelE650Q0.17
HNSCchr254632635Missense_MutationnovelE1212Q0.11
HNSCchr254629547Nonsense_MutationnovelE805*0.24
HNSCchr254649161Missense_MutationnovelE1725K0.13
HNSCchr254526549Missense_MutationnovelR44L0.24
HNSCchr254629034Missense_MutationnovelL634M0.31
HNSCchr254526530Missense_MutationNAR38W0.17
HNSCchr254630873SilentnovelE942E0.21
HNSCchr254629747Nonsense_MutationnovelW871*0.15
HNSCchr254632609Missense_MutationnovelG1203E0.06
HNSCchr254645300Missense_MutationnovelS1447R0.05
HNSCchr254617622Missense_Mutationrs754107495N194S0.3
HNSCchr254629019Nonsense_MutationnovelE629*0.28
HNSCchr254622355Missense_MutationNAA311V0.09
HNSCchr254622378Missense_MutationnovelE319Q0.11
HNSCchr254628951Missense_MutationnovelP606H0.19
HNSCchr254664540Missense_Mutationrs202001000P2170S0.27
KIRCchr254643072SilentNAH1316H0.31
KIRCchr254655971Nonsense_MutationNAE2007*0.22
KIRCchr254631208Frame_Shift_DelnovelE1055Gfs*200.19
KIRCchr254626054In_Frame_InsnovelL488_E489insML0.07
KIRCchr254664647Missense_MutationNAN2205K0.24
KIRPchr254624863Silentrs756836467L414L0.18
KIRPchr254657857Frame_Shift_DelnovelV2019Sfs*270.48
KIRPchr254646282Missense_MutationnovelL1558R0.06
KIRPchr254647249Missense_MutationnovelS1662T0.45
KIRPchr254612245Frame_Shift_DelnovelL130Gfs*40.74
LAMLchr254629043Missense_MutationnovelS637P0.28
LAMLchr254649729Missense_MutationnovelA1773T0.28
LAMLchr254631440SilentnovelG1131G0.12
LGGchr254632720Missense_MutationNAN1240S0.06
LGGchr254653806SilentNAL1925L0.38
LGGchr254618118Missense_Mutationrs760099132A230T0.21
LGGchr254622466Missense_Mutationrs748951777R348H0.32
LGGchr254631161Silentrs747395779A1038A0.35
LGGchr254647206Missense_MutationnovelV1648M0.13
LGGchr254657878Silentrs144327595D2025D0.31
LGGchr254659249Silentrs372899977A2113A0.43
LIHCchr254631030Nonsense_MutationnovelQ995*0.35
LIHCchr254632682SilentNAA1227A0.39
LIHCchr254646003Missense_MutationnovelI1524V0.39
LIHCchr254647198Missense_MutationNAA1645E0.44
LIHCchr254631376Missense_MutationnovelE1110V0.4
LIHCchr254643047Missense_MutationnovelN1308S0.19
LIHCchr254649760Missense_MutationNAL1783R0.31
LIHCchr254526512Missense_MutationNAN32Y0.5
LIHCchr254626055Missense_MutationNAE489K0.39
LIHCchr254558863Intronnovel0.29
LIHCchr254655079SilentNAS1944S0.4
LIHCchr254664520Missense_MutationnovelE2163V0.29
LIHCchr254628234Missense_MutationnovelF594L0.1
LIHCchr254631364Missense_Mutationrs772780138N1106S0.31
LIHCchr254632660Missense_MutationNAA1220V0.39
LIHCchr254630000SilentNAI926I0.65
LUADchr254645321Silentrs540844973D1454D0.18
LUADchr254649032Missense_MutationnovelG1682S0.45
LUADchr254644440Missense_MutationnovelR1375W0.05
LUADchr254653565Intronnovel0.55
LUADchr254646410Missense_MutationnovelA1601P0.21
LUADchr254648990Missense_Mutationrs760684638R1668C0.24
LUADchr2546686323'UTRnovel0.38
LUADchr254644463Silentrs775402962A1382A0.15
LUADchr254616244Missense_MutationnovelE171G0.18
LUADchr254624870Nonsense_MutationNAQ417*0.45
LUADchr254630984Missense_MutationNAE979D0.5
LUADchr254655978Missense_Mutationrs762333666R2009Q0.22
LUADchr254668435Frame_Shift_DelnovelP2321Ifs*580.08
LUADchr254629280Missense_Mutationrs750448290R716C0.14
LUADchr254599168In_Frame_DelnovelY79_L82del0.13
LUADchr2545264095'UTRnovel0.19
LUADchr254646273Missense_MutationNAS1555T0.19
LUADchr2546685773'UTRnovel0.22
LUADchr254628231Missense_MutationnovelK593N0.37
LUADchr254631174Missense_MutationnovelV1043L0.05
LUADchr254653699Silentrs369227418L1890L0.29
LUADchr254626111Silentrs374624032I507I0.05
LUADchr254629056Nonsense_MutationnovelW641*0.08
LUADchr254666045Missense_MutationNAV2264L0.13
LUADchr254630991Nonsense_MutationNAQ982*0.21
LUADchr254632727Missense_MutationNAN1242K0.48
LUADchr254647231Missense_Mutationrs779152792R1656Q0.11
LUADchr254630974Missense_MutationnovelK976R0.52
LUADchr254645255SilentNAR1432R0.16
LUADchr254653795Missense_MutationNAD1922N0.2
LUADchr254645355Nonsense_MutationnovelK1466*0.38
LUADchr254623565Missense_MutationnovelR384L0.06
LUADchr254645295SilentNAL1446L0.18
LUADchr254617646Missense_MutationnovelW202L0.62
LUADchr254624871Missense_MutationnovelQ417P0.17
LUADchr254626185Missense_MutationnovelK532T0.39
LUADchr254631475Missense_MutationnovelR1143L0.24
LUADchr254653656SilentnovelA1875A0.43
LUSCchr254649192Splice_SiteNAX1734_splice0.21
LUSCchr254655099Missense_MutationNAN1951S0.52
LUSCchr254526531Missense_MutationnovelR38L0.23
LUSCchr254649116Missense_MutationnovelL1710M0.3
LUSCchr254629397Missense_MutationnovelD755H0.13
LUSCchr254644327Missense_MutationnovelG1337V0.16
LUSCchr254629957Missense_MutationnovelA912V0.13
LUSCchr254646228Missense_MutationNAR1540H0.19
LUSCchr254646200Nonsense_MutationnovelQ1531*0.33
LUSCchr254664529Missense_MutationnovelP2166L0.28
LUSCchr254629272Missense_MutationnovelE713A0.29
LUSCchr254668550Missense_MutationnovelL2359P0.08
LUSCchr254629206Missense_MutationnovelS691T0.12
LUSCchr254629567SilentNAP811P0.14
LUSCchr254626039Silentrs537029257A483A0.38
LUSCchr254529445Intronnovel0.13
LUSCchr254664693Splice_Regionnovel0.11
LUSCchr254629177SilentNAR681R0.23
LUSCchr254626175Missense_MutationnovelG529W0.23
LUSCchr254629485Missense_MutationNAK784M0.25
LUSCchr254629355Missense_MutationNAE741Q0.03
LUSCchr254632598SilentNAT1199T0.68
LUSCchr254631524SilentnovelE1159E0.36
LUSCchr254612254Missense_MutationnovelN132H0.16
LUSCchr254664629SilentnovelQ2199Q0.34
LUSCchr254664556Missense_MutationnovelK2175T0.13
LUSCchr254626158Missense_MutationnovelR523L0.35
LUSCchr254631602SilentnovelL1185L0.24
LUSCchr254664588Missense_Mutationrs200361368A2186T0.25
LUSCchr254647199Silentrs145221949A1645A0.29
LUSCchr254649179Missense_MutationnovelE1731Q0.27
LUSCchr254529547Intronnovel0.11
LUSCchr254599230Missense_MutationnovelS96F0.09
LUSCchr254665977Missense_MutationNAK2241T0.14
MESOchr254630927SilentnovelY960Y0.17
MESOchr254649717Missense_MutationnovelG1769R0.15
OVchr254668389SilentnovelA2305A0.16
OVchr254649014Missense_MutationnovelV1676M0.09
OVchr254558819Intronnovel0.05
OVchr254558837IntronNA0.34
OVchr254643063Missense_MutationnovelW1313C0.09
OVchr254631300Missense_MutationnovelI1085L0.22
OVchr254653496Intronnovel0.09
OVchr254655191Missense_MutationnovelH1982N0.04
OVchr254529380Intronrs7765665610.34
OVchr254668533Missense_MutationnovelK2353N0.05
OVchr254630931Missense_MutationNAL962F0.24
OVchr254649720Missense_MutationnovelH1770Y0.39
OVchr254616224SilentnovelV164V0.18
OVchr254647142SilentnovelS1626S0.06
OVchr254629959Missense_Mutationrs759737447R913C0.36
OVchr254629764Missense_MutationnovelI877T0.18
OVchr254649872In_Frame_InsnovelR1820_I1821insHLVCPSFSL0.06
OVchr254629760Nonsense_MutationnovelQ876*0.13
OVchr254645337Missense_MutationnovelR1460C0.05
PAADchr254628167Missense_MutationnovelL572R0.39
PAADchr254526525Missense_MutationnovelS36F0.16
PAADchr254629514Missense_Mutationrs751609029A794T0.17
PAADchr254647190Missense_Mutationrs764862001E1642D0.18
PAADchr254526544SilentnovelR42R0.21
PRADchr254629692Missense_Mutationrs767166000K853R0.1
PRADchr254529740Intronnovel0.13
PRADchr254659231Silentrs150684675T2107T0.15
PRADchr254526529SilentNAA37A0.22
PRADchr254649627Nonsense_MutationNAR1739*0.16
PRADchr254655193Missense_MutationNAH1982Q0.39
PRADchr254621430Missense_MutationnovelS265F0.38
PRADchr254629457Missense_Mutationrs1804471D775N0.62
PRADchr254631033Missense_MutationnovelR996C0.33
PRADchr254668403Missense_MutationNAK2310R0.29
READchr254558559Intronnovel0.3
READchr254558667Intronnovel0.45
READchr254646206Nonsense_MutationnovelE1533*0.39
READchr254631313Missense_MutationnovelD1089V0.45
READchr254629476Missense_MutationnovelS781F0.22
READchr254637731SilentnovelE1262E0.06
SARCchr254612331SilentnovelF157F0.09
SARCchr2546687133'UTRnovel0.14
SARCchr254628243Silentrs551964268D597D0.34
SKCMchr254645254Missense_MutationnovelR1432Q0.46
SKCMchr254645255SilentnovelR1432R0.45
SKCMchr254646195Missense_MutationnovelT1529I0.39
SKCMchr254664602SilentNAA2190A0.43
SKCMchr254558807Intronnovel0.43
SKCMchr254653716SilentnovelS1895S0.31
SKCMchr254623478Splice_SitenovelX355_splice0.36
SKCMchr254558807Intronnovel0.44
SKCMchr254529466IntronNA0.08
SKCMchr254629127Missense_MutationnovelD665N0.29
SKCMchr254629114SilentNAI660I0.3
SKCMchr254629435Silentrs751662280V767V0.26
SKCMchr254660195Intronnovel0.46
SKCMchr254631043Missense_MutationNAT999I0.38
SKCMchr254645962Missense_MutationnovelS1510F0.31
SKCMchr254664509Silentrs758704866T2159T0.17
SKCMchr254631482SilentNAQ1145Q0.16
SKCMchr254526461Nonsense_MutationNAQ15*0.3
SKCMchr254631137SilentNAA1030A0.37
SKCMchr254624906Missense_MutationNAR429C0.21
SKCMchr254529495IntronNA0.15
SKCMchr254657929SilentNAS2042S0.37
SKCMchr254668473Silentrs199584027V2333V0.26
SKCMchr254653774Missense_MutationNAR1915C0.24
SKCMchr254631217Missense_MutationNAS1057F0.27
SKCMchr254645420Silentrs766964964I1487I0.24
SKCMchr254628961Silentrs778327408I609I0.46
SKCMchr254629345SilentNAK737K0.37
SKCMchr254645963SilentNAS1510S0.25
SKCMchr254529465IntronNA0.18
SKCMchr254618181SilentNAL251L0.3
SKCMchr254649148Silentrs368730014V1720V0.13
SKCMchr254649174Missense_MutationnovelD1729V0.39
SKCMchr254624834Missense_MutationNAE405K0.38
SKCMchr254626112Missense_Mutationrs144666036R508W0.26
SKCMchr254653707SilentNAA1892A0.12
STADchr254631333Frame_Shift_DelnovelE1098Afs*860.22
STADchr254629198Silentrs749471660S688S0.11
STADchr254631362SilentnovelE1105E0.18
STADchr254529518Intronnovel0.35
STADchr254646228Missense_MutationNAR1540H0.14
STADchr254653610Missense_MutationNAV1860G0.38
STADchr254649967Missense_MutationNAD1852V0.13
STADchr254649675Missense_Mutationrs779986830V1755M0.17
STADchr254668558Frame_Shift_DelnovelK2363Rfs*590.38
STADchr254626211Missense_Mutationrs200538825M541V0.57
STADchr254612185Missense_MutationNAR109C0.08
STADchr254628243Silentrs551964268D597D0.18
STADchr254668386Silentrs147084588S2304S0.21
STADchr254612262Silentrs765480147G134G0.31
STADchr254630913Missense_MutationNAS956G0.33
STADchr254657879Missense_Mutationrs760421103A2026T0.26
STADchr254529394Intronnovel0.52
STADchr254653683SilentnovelK1884K0.32
STADchr254655978Missense_Mutationrs762333666R2009Q0.44
STADchr254666041Silentrs773456466C2262C0.38
STADchr254649633Missense_Mutationrs750537630R1741W0.26
STADchr254649673Missense_MutationnovelR1754H0.28
STADchr254622364Missense_MutationnovelL314P0.1
STADchr254629014Missense_Mutationrs557616559A627V0.29
STADchr254668388Missense_MutationnovelA2305V0.35
STADchr254637744Frame_Shift_DelnovelL1267Ffs*20.26
STADchr254629202Missense_MutationnovelR690C0.41
STADchr254629200Missense_MutationNAG689D0.2
STADchr254668449Silentrs779397892R2325R0.11
STADchr254645356Missense_MutationNAK1466T0.09
STADchr254629622Missense_MutationNAR830W0.38
STADchr254632739Missense_MutationnovelI1246M0.31
STADchr254631045Missense_MutationNAG1000S0.21
STADchr254624824Missense_MutationNAK401N0.24
STADchr254647244Silentrs748639736A1660A0.19
STADchr254625983Missense_MutationNAE465K0.37
STADchr254631198Missense_MutationNAL1051M0.35
STADchr254643052Missense_MutationNAH1310Y0.41
STADchr254629132Silentrs773513812Y666Y0.07
STADchr254668473Silentrs199584027V2333V0.25
STADchr254646228Missense_MutationNAR1540H0.18
STADchr254660139Intronnovel0.32
STADchr254631119SilentNAS1024S0.38
TGCTchr254660088Intronnovel0.17
TGCTchr254558778Intronnovel0.21
THCAchr254629591Missense_MutationNAD819E0.38
UCECchr254626083Missense_MutationNAR498H0.49
UCECchr254630903SilentNAL952L0.38
UCECchr254631252Missense_MutationNAR1069W0.55
UCECchr254645346Missense_Mutationrs201812651V1463M0.52
UCECchr254646228Missense_MutationNAR1540H0.34
UCECchr254660057Intronnovel0.09
UCECchr254653833Silentrs781563729I1934I0.29
UCECchr254628234Silentrs761403914F594F0.3
UCECchr254631562Missense_MutationNAQ1172R0.27
UCECchr254649849Missense_Mutationrs765879123D1813N0.16
UCECchr254526489Missense_Mutationrs779865142R24H0.37
UCECchr254621502Missense_MutationnovelR289Q0.18
UCECchr254628146Missense_MutationnovelD565G0.16
UCECchr254629024Silentrs750788374R630R0.3
UCECchr254631253Missense_MutationnovelR1069Q0.39
UCECchr254632735Missense_MutationnovelR1245H0.11
UCECchr254637784Missense_MutationnovelF1280S0.23
UCECchr2546694343'UTRnovel0.08
UCECchr254558867Intronnovel0.42
UCECchr254618185Missense_MutationnovelD252G0.06
UCECchr254625973SilentnovelT461T0.5
UCECchr254630915Silentrs756323111S956S0.38
UCECchr254661496Intronnovel0.06
UCECchr254637717Missense_MutationNAR1258G0.5
UCECchr254617673Missense_MutationnovelL211P0.19
UCECchr254629076Missense_MutationnovelA648T0.11
UCECchr254623542SilentnovelN376N0.51
UCECchr254621502Missense_MutationnovelR289Q0.38
UCECchr254631298Missense_Mutationrs377200533A1084V0.47
UCECchr254661609Intronnovel0.06
UCECchr2546687123'UTRrs5419333680.27
UCECchr254526440Missense_MutationnovelD8Y0.38
UCECchr254631298Missense_Mutationrs377200533A1084V0.47
UCECchr254653792Missense_MutationnovelR1921C0.41
UCECchr2546696473'UTRnovel0.3
UCECchr254653725Silentrs771299659D1898D0.56
UCECchr254649688Missense_MutationnovelN1759T0.3
UCECchr254648991Missense_MutationnovelR1668H0.05
UCECchr254628178Missense_MutationnovelD576N0.08
UCECchr254629270Silentrs146810411S712S0.23
UCECchr254645322Missense_MutationNAE1455K0.19
UCECchr254647137Nonsense_MutationNAQ1625*0.23
UCECchr254649813Missense_MutationNAL1801I0.18
UCECchr254653775Missense_MutationNAR1915H0.2
UCECchr254668518SilentNAD2348D0.16
UCECchr254617687Missense_MutationNAR216W0.08
UCECchr254625983Missense_MutationNAE465K0.08
UCECchr254629976SilentNAS918S0.29
UCECchr254629457Missense_Mutationrs1804471D775N0.25
UCECchr254645357Missense_MutationnovelK1466N0.17
UCECchr254646442Missense_MutationnovelQ1611H0.29
UCECchr254659205Missense_Mutationrs778160145R2099W0.33
UCECchr254667644Missense_MutationnovelD2292N0.4
UCECchr2546687123'UTRrs5419333680.46
UCECchr254626038Missense_MutationnovelA483V0.06
UCECchr254629271Missense_MutationNAE713K0.31
UCECchr254649943Missense_MutationnovelR1844I0.72
UCECchr2546687133'UTRnovel0.43
UCECchr254612208SilentnovelV116V0.29
UCECchr254664624Missense_Mutationrs780273707A2198S0.23
UCECchr254664625Missense_MutationnovelA2198V0.24
UCECchr254626073Missense_MutationnovelD495N0.63
UCECchr254631389SilentNAY1114Y0.41
UCECchr2546694753'UTRrs91340.41
UCECchr254529800Intronnovel0.13
UCECchr2546686993'UTRnovel0.4
UCECchr254558638Intronnovel0.31
UCECchr254666074SilentnovelH2273H0.28
UCECchr2546696803'Flanknovel0.4
UCECchr254631378Missense_MutationnovelI1111F0.29
UCECchr2546687123'UTRrs5419333680.13
UCECchr254628137Missense_Mutationrs753086001G562D0.48
UCECchr254629023Missense_MutationnovelR630H0.33
UCECchr254631174Missense_Mutationrs768447926V1043M0.28
UCECchr254668557Frame_Shift_InsnovelK2364Efs*170.21
UCECchr2546694133'UTRnovel0.36
UCECchr254661626Intronnovel0.37
UCECchr2546687133'UTRnovel0.37
UCECchr254649032Missense_MutationnovelG1682S0.27
UCECchr254526531Missense_MutationnovelR38Q0.4
UCECchr254631262Missense_MutationnovelD1072G0.26
UCECchr254632723Missense_MutationnovelI1241T0.32
UCECchr254612253Missense_MutationnovelE131D0.47
UCECchr254646335Missense_MutationnovelL1576F0.35
UCECchr2546693763'UTRnovel0.63
UCECchr254612185Missense_MutationNAR109C0.16
UCECchr254655083Missense_MutationNAV1946I0.4
UCECchr254653393Intronnovel0.18
UCECchr254624804Missense_MutationNAA395T0.41
UCECchr254624830Missense_MutationNAE403D0.51
UCECchr254625982Silentrs766385315H464H0.37
UCECchr254643111Nonsense_MutationNAW1329*0.35
UCECchr254646237Missense_MutationNAD1543G0.27
UCECchr254631220Missense_MutationnovelL1058P0.37
UCECchr254599190Nonsense_MutationnovelR83*0.3
UCECchr254622319Missense_MutationnovelE299G0.35
UCECchr254629022Missense_MutationNAR630C0.43
UCECchr254526528Missense_MutationnovelA37V0.33
UCECchr254529514Intronnovel0.25
UCECchr254631071SilentnovelI1008I0.28
UCECchr254645938Missense_MutationnovelG1502E0.34
UCECchr254659227Missense_MutationnovelS2106N0.34
UCECchr254668411Missense_MutationnovelV2313M0.18
UCECchr254645267Silentrs773794373I1436I0.29
UCECchr254643033Silentrs748501800Y1303Y0.34
UCECchr254645318Silentrs145927206T1453T0.35
UCECchr254653637Missense_Mutationrs779220012R1869H0.42
UCECchr254659230Missense_Mutationrs766647948T2107M0.5
UCECchr254668507Missense_MutationnovelR2345W0.38
UCECchr254632659Missense_MutationnovelA1220T0.45
UCECchr254646288Missense_MutationnovelA1560D0.38
UCECchr254618091Missense_MutationnovelD221Y0.34
UCECchr254623491Missense_MutationnovelK359N0.38
UCECchr254664488Silentrs528849120N2152N0.49
UCECchr254631434SilentnovelT1129T0.25
UCECchr254625976Missense_MutationnovelK462N0.45
UCECchr254629050Missense_MutationNAR639H0.47
UCECchr254629241Missense_MutationnovelD703Y0.77
UCECchr254631007Missense_MutationnovelD987A0.34
UCECchr254655987Missense_MutationnovelW2012L0.42
UCECchr2546694513'UTRnovel0.33
UCECchr254649030Missense_MutationnovelA1681V0.13
UCECchr254649160SilentnovelH1724H0.46
UCECchr254622450Missense_MutationNAA343T0.22
UCECchr254644548Missense_MutationNAD1411Y0.31
UCECchr254646227Missense_MutationnovelR1540C0.05
UCECchr254666041Silentrs773456466C2262C0.2
UCECchr254668450Missense_Mutationrs200348448A2326T0.28
UCECchr2546687133'UTRnovel0.3
UCECchr254628942Missense_MutationnovelP603L0.37
UCECchr254631303Missense_MutationnovelA1086T0.39
UCECchr254649845Nonsense_MutationnovelY1811*0.28
UCECchr254657967Missense_MutationnovelL2055R0.15
UCECchr254624880Missense_MutationnovelL420Q0.28
UCECchr254631129Missense_Mutationrs545815578D1028N0.27
UCECchr254629519Missense_MutationnovelN795K0.07
UCECchr254632659Missense_MutationnovelA1220T0.08
UCECchr254645293Missense_MutationNAA1445V0.33
UCECchr254626013Missense_Mutationrs747062361E475K0.37
UCECchr254624908Silentrs756134030R429R0.31
UCECchr254631423Missense_MutationNAE1126K0.1
UCECchr254632680Missense_MutationnovelA1227T0.43
UCECchr254655201Missense_MutationnovelS1985Y0.32
UCECchr254661415Intronnovel0.33
UCECchr254646208Nonsense_MutationnovelI1534Ffs*20.07
UCECchr254631458SilentnovelY1137Y0.19
UCECchr254664488Silentrs528849120N2152N0.33
UCECchr254622377SilentNAI318I0.34
UCECchr254661376Intronnovel0.32
UCECchr2546687133'UTRnovel0.42
UCECchr254612292SilentnovelR144R0.29
UCECchr254646404Missense_MutationNAF1599V0.35
UCECchr254618108Missense_MutationNAK226N0.49
UCECchr254612269Missense_MutationNAD137Y0.46
UCECchr254616248Missense_MutationnovelK172N0.05
UCECchr254618190Missense_MutationNAE254K0.38
UCECchr254624840Nonsense_MutationNAE407*0.32
UCECchr254629397Missense_MutationNAD755Y0.25
UCECchr2546690493'UTRnovel0.29
UCECchr254621417Missense_MutationnovelP261S0.57
UCECchr254628190Missense_MutationnovelQ580K0.2
UCECchr254629513Silentrs267599410I793I0.44
UCECchr254631468Missense_MutationnovelR1141W0.23
UCECchr254632697Silentrs767198212G1232G0.14
UCECchr254649060Missense_MutationnovelR1691I0.35
UCECchr254649858Missense_MutationnovelE1816K0.19
UCECchr254664622Missense_Mutationrs781460543S2197L0.21
UCECchr254624906Missense_MutationNAR429C0.17
UCECchr254632768Missense_MutationNAR1256I0.47
UCECchr254624803Splice_SiteNAX395_splice0.32
UCECchr254626114SilentNAR508R0.22
UCECchr254643029Missense_MutationNAS1302F0.28
UCECchr254632658Silentrs567753600D1219D0.46
UCECchr254666058Missense_MutationnovelY2268C0.59
UCECchr254644506Missense_MutationNAH1397Y0.38
UCECchr254626208Missense_MutationnovelI540V0.56
UCECchr254644455Missense_MutationnovelN1380D0.26
UCECchr254661463Intronnovel0.48
UCECchr254664552Missense_MutationNAR2174C0.45
UCECchr254623510Missense_MutationnovelL366I0.4
UCECchr254626092Missense_Mutationrs76198367A501V0.2
UCECchr254630900Silentrs757177780L951L0.43
UCECchr254661462Intronnovel0.04
UCECchr254599190Nonsense_MutationnovelR83*0.38
UCSchr254626073Missense_MutationnovelD495N0.42
UCSchr254631382Missense_MutationnovelD1112G0.34
UVMchr254618190Missense_MutationNAE254K0.1

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
KIRPDEL0.02430.08832
PAADDEL0.07070.2014

Survival Analysis
CancerP-value Q-value
ACC0.0026

Kaplan-Meier Survival Analysis

KIRP0.0068

Kaplan-Meier Survival Analysis

PAAD0.0024

Kaplan-Meier Survival Analysis

BLCA0.022

Kaplan-Meier Survival Analysis

CESC0.0031

Kaplan-Meier Survival Analysis

READ0.002

Kaplan-Meier Survival Analysis

CHOL0.044

Kaplan-Meier Survival Analysis

THCA0.024

Kaplan-Meier Survival Analysis

UVM0.0033

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000115306 (Gene tree)
Gene ID
6711
Gene Symbol
SPTBN1
Alias
N
Full Name
spectrin beta, non-erythrocytic 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
215,162 bases
Position
chr2:54,456,285-54,671,446
Accession
11275
RBP type
non-canonical RBP
Summary
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
22681889The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts4SURIC & HEK2932012 MayBaltz AGDOI: 10.1016/j.molcel.2012.05.021
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
27453046Comprehensive Identification of RNA-Binding Domains in Human CellsRIC & Hela2016 Aug 18Castello ADOI: 10.1016/j.molcel.2016.06.029
30352994Discovery of RNA-binding proteins and characterization of their dynamic responses by enhanced RNA interactome captureRIC & Jurkat2018 Oct 23Perez-Perri JIDOI:10.1038/s41467-018-06557-8

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
11333019The requirement for eukaryotic initiation factor 4A (elF4A) in translation is in direct proportion to the degree of mRNA 5' secondary structure.RNA2001 MarSvitkin YV-
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000356805SPTBN1-2028482XM_005264517ENSP000003492592364 (aa)XP_005264574Q01082
ENST00000333896SPTBN1-2019075-ENSP000003341562155 (aa)-Q01082
ENST00000496323SPTBN1-2052225--- (aa)--
ENST00000467371SPTBN1-2043332--- (aa)--
ENST00000389980SPTBN1-2032164-ENSP00000374630690 (aa)-F8W6C1
ENST00000602898SPTBN1-2062942--- (aa)--
ENST00000615901SPTBN1-20710226-ENSP000004790372366 (aa)-A0A087WUZ3
Gene Model
Click here to download ENSG00000115306's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000115306Schizophrenia4.11E-5-
ENSG00000115306Bipolar Disorder4.13E-519488044
ENSG00000115306Calcium9.3170000E-005-
ENSG00000115306Fractures, Bone6E-624430505
ENSG00000115306Bone Density2E-819801982
ENSG00000115306Bone Density4E-1324430505
ENSG00000115306Myopia, Degenerative3E-722685421
ENSG00000115306Bone Density4E-619079262
ENSG00000115306Bone Density8E-718445777
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000115306rs76070960254457261CIntraocular pressure29617998[0.074-0.148] unit increase0.1106EFO_0004695
ENSG00000115306rs11898505254457420ALumbar spine bone mineral density29499414[0.033-0.065] unit increase0.0491EFO_0007701
ENSG00000115306rs11898505254457420GBone properties (heel)24430505[0.05-0.08] unit decrease0.06EFO_0004514
ENSG00000115306rs4557020254491044TMyopia (pathological)22685421[0.081-0.159] mm decrease0.12EFO_0004207
ENSG00000115306rs11898505254457420GBone properties (heel)24430505[0.03-0.07] unit decrease0.05EFO_0005654
ENSG00000115306rs11898505254457420GBone mineral density (spine)19079262[0.04-0.10] s.d. decrease0.07EFO_0003923
ENSG00000115306rs11898505254457420ABone mineral density (spine)19801982[0.05-0.09] s.d. increase0.07EFO_0003923
ENSG00000115306rs34138479254620477AHeel bone mineral density28869591[0.048-0.07] unit decrease0.058837EFO_0009270
ENSG00000115306rs34138479254620477AHeel bone mineral density28869591[0.044-0.059] unit decrease0.0517512EFO_0009270
ENSG00000115306rs34138479254620477AHeel bone mineral density28869591[0.036-0.056] unit decrease0.0456176EFO_0009270
ENSG00000115306rs11898505254457420ATotal body bone mineral density29304378unit increase0.0342EFO_0003923
ENSG00000115306rs11898505254457420ABone ultrasound measurement (broadband ultrasound attenuation)28472463[0.07-0.11] unit increase0.09EFO_0004514
ENSG00000115306rs11898505254457420ABone ultrasound measurement (broadband ultrasound attenuation)28472463[0.07-0.11] unit increase0.09EFO_0004514
ENSG00000115306rs11898505254457420ABone ultrasound measurement (velocity of sound)28472463[0.05-0.09] unit increase0.07EFO_0004514
ENSG00000115306rs11898505254457420GBone mineral density (spine)18445777[0.05-0.11] s.d. decrease0.08EFO_0003923
ENSG00000115306rs34138479254620477?Heel bone mineral density30048462[0.048-0.057] unit decrease0.0524368EFO_0009270
ENSG00000115306rs11898505254457420?Heel bone mineral density30048462[0.075-0.083] unit increase0.0787181EFO_0009270
ENSG00000115306rs4671934254460386?Heel bone mineral density30048462[0.014-0.022] unit decrease0.017815EFO_0009270
ENSG00000115306rs67079536254571707?Heel bone mineral density30048462[0.053-0.07] unit decrease0.0616926EFO_0009270
ENSG00000115306rs28517733254576074?Heel bone mineral density30048462[0.032-0.046] unit decrease0.038974EFO_0009270
ENSG00000115306rs10180713254577556?Heel bone mineral density30048462[0.048-0.057] unit decrease0.0527968EFO_0009270
ENSG00000115306rs11402836254592389?Heel bone mineral density30048462[0.016-0.025] unit decrease0.0200728EFO_0009270
ENSG00000115306rs63629260254668798?Heel bone mineral density30048462[0.11-0.17] unit decrease0.139899EFO_0009270
ENSG00000115306rs75475627254560455CHeel bone mineral density30598549[0.019-0.034] unit increase0.0265001EFO_0009270
ENSG00000115306rs2271329254655244GHeel bone mineral density30598549[0.013-0.023] unit decrease0.0182739EFO_0009270
ENSG00000115306rs2971879254661396THeel bone mineral density30598549[0.037-0.047] unit decrease0.042132EFO_0009270
ENSG00000115306rs2941584254654484CLumbar spine bone mineral density (trabecular)27476799[0.036-0.084] unit decrease0.06EFO_0007620
ENSG00000115306rs2941584254654484CLumbar spine bone mineral density (integral)27476799[0.037-0.087] unit decrease0.062EFO_0007620
ENSG00000115306rs75475627254560455?White blood cell count30595370EFO_0004308
ENSG00000115306rs10205410254572462?Red blood cell count30595370EFO_0004305
ENSG00000115306rs10181201254572037GEstimated glomerular filtration rate30604766[-0.12972-0.38772] ml/min/1.73m2 decrease0.129EFO_0005208
ENSG00000115306rs17046036254628317AEstimated glomerular filtration rate30604766[0.021-0.299] ml/min/1.73m2 decrease0.16EFO_0005208
ENSG00000115306rs7586066254583355AEstimated glomerular filtration rate30604766[-0.02932-0.23332] ml/min/1.73m2 decrease0.102EFO_0005208
ENSG00000115306rs29718872