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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
26784546TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.J Clin Invest2016 FebChen Jdoi: 10.1172/JCI80937

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1166699450Missense_MutationnovelI1244M0.4
ACCchr1166715883Missense_Mutationrs776593274R86W0.49
BLCAchr1166696481SilentnovelL1358L0.17
BLCAchr1166691512SilentNAL1779L0.24
BLCAchr1166693027Missense_MutationNAT1643S0.28
BLCAchr1166705771Missense_Mutationrs372241839E574K0.24
BLCAchr1166704671Missense_MutationnovelE869Q0.33
BLCAchr1166701655SilentnovelA915A0.54
BLCAchr1166701263Missense_MutationNAL946M0.28
BLCAchr1166705356SilentnovelS640S0.46
BLCAchr1166693240Silentrs146007976A1600A0.25
BLCAchr1166698731Missense_MutationNAE1308K0.14
BLCAchr1166686373Intronnovel0.23
BLCAchr1166687518Missense_MutationnovelR2211G0.39
BLCAchr1166708986SilentnovelL369L0.09
BLCAchr1166708277Missense_MutationnovelA405V0.53
BLCAchr1166708221Missense_MutationnovelE424Q0.78
BLCAchr1166689162Nonsense_MutationNAQ1990*0.18
BLCAchr1166705004Missense_MutationnovelD758N0.47
BLCAchr1166687035SilentnovelV2285V0.27
BLCAchr1166721155Missense_MutationnovelP29L0.31
BLCAchr1166696385Missense_MutationnovelQ1390H0.3
BRCAchr1166688774Missense_Mutationrs144215906R2037H0.14
BRCAchr1166692997Missense_MutationNAD1653G0.34
BRCAchr1166693256Missense_Mutationrs763501939R1595H0.21
BRCAchr1166701598Missense_MutationnovelE934D0.37
BRCAchr1166689176Missense_MutationnovelS1985L0.25
BRCAchr1166687561Missense_MutationNAQ2196H0.65
BRCAchr1166694340SilentnovelV1434V0.26
BRCAchr1166689147Missense_Mutationrs374895441R1995C0.19
BRCAchr1166694254Missense_Mutationrs768355416S1463L0.19
BRCAchr1166699062Missense_MutationNAA1266E0.39
BRCAchr1166693040Missense_Mutationrs138405793D1639N0.28
BRCAchr1166691410SilentNAA1813A0.3
BRCAchr1166707582SilentNAL529L0.29
BRCAchr1166699568Missense_MutationnovelQ1205L0.07
BRCAchr1166687509Missense_MutationnovelE2214K0.4
BRCAchr1166689930Missense_MutationNAA1942T0.84
BRCAchr1166713634Missense_MutationNAE257K0.2
BRCAchr1166701232Nonsense_MutationNAS956*0.32
BRCAchr1166696414Missense_MutationNAD1381H0.24
CESCchr1166714371Missense_MutationnovelE174K0.32
CESCchr1166705061Missense_Mutationrs376230007R739C0.32
CESCchr1166699570SilentNAL1204L0.18
CESCchr1166694243Nonsense_MutationNAE1467*0.15
CESCchr1166694253SilentNAS1463S0.13
CESCchr1166688755SilentnovelC2043C0.29
CESCchr1166691331Missense_MutationnovelR1840C0.37
CESCchr1166700654Missense_MutationnovelA1149T0.45
CESCchr1166700540Missense_Mutationrs369739429V1187M0.19
CESCchr1166687604Frame_Shift_InsnovelR2182Ifs*1080.13
CESCchr1166715282Frame_Shift_DelnovelI141Mfs*80.09
CESCchr1166700669Nonsense_MutationnovelR1144*0.34
CESCchr1166700945Missense_MutationnovelA1052S0.13
CESCchr1166710916Splice_SitenovelX295_splice0.26
CESCchr1166714091Missense_MutationnovelR219Q0.26
CESCchr1166708938Silentrs773673472T385T0.46
CESCchr1166690086SilentNAL1921L0.25
CESCchr1166692613Missense_MutationNAD1705N0.17
CESCchr1166707656Missense_MutationNAR505W0.24
CHOLchr1166696474SilentnovelL1361L0.53
COADchr1166687160Missense_MutationNAQ2244K0.23
COADchr1166691436Missense_Mutationrs373877632R1805C0.39
COADchr1166710731Missense_MutationNAE308D0.39
COADchr1166715842Silentrs762103483S99S0.16
COADchr1166704774Silentrs780176754Y834Y0.56
COADchr1166705199Missense_MutationNAR693W0.5
COADchr1166714327Missense_MutationnovelM188I0.26
COADchr1166687021Missense_Mutationrs200100829R2290Q0.44
COADchr1166687548Missense_MutationNAE2201K0.88
COADchr1166687095SilentnovelS2265S0.08
COADchr1166694240Missense_MutationnovelE1468K0.32
COADchr1166705786SilentNAL569L0.31
COADchr1166691455Silentrs764744589A1798A0.31
COADchr1166721124Silentrs142080780S39S0.28
COADchr1166690266Silentrs557448224D1861D0.29
COADchr1166715922Missense_Mutationrs536375005R73W0.4
COADchr1166701265Missense_Mutationrs377663856R945H0.27
COADchr1166690045Missense_Mutationrs145750214R1935H0.11
COADchr1166699414SilentnovelI1256I0.3
COADchr1166689946Splice_RegionNA0.56
COADchr1166694258Missense_MutationNAT1462A0.37
COADchr1166701629Frame_Shift_DelNAP924Qfs*350.39
COADchr1166689181Splice_SitenovelX1984_splice0.1
COADchr1166689822Missense_MutationnovelH1978N0.18
COADchr1166688748Missense_MutationNAD2046N0.57
COADchr1166710720Missense_MutationnovelS312F0.5
COADchr1166704714SilentnovelL854L0.2
COADchr1166687868Splice_RegionNAP2167P0.44
COADchr1166685923Missense_MutationnovelG2374D0.1
COADchr1166688201Silentrs762025497G2114G0.22
COADchr1166693205Missense_MutationnovelM1612T0.31
COADchr1166686433Missense_MutationnovelD2302N0.09
COADchr1166691358Missense_Mutationrs771882386D1831N0.37
COADchr1166699503Missense_Mutationrs766811381R1227W0.3
COADchr1166700719Missense_MutationnovelL1127P0.45
COADchr1166707636SilentNAR511R0.3
COADchr1166698674Missense_MutationnovelA1327P0.48
COADchr1166710710Silentrs758056414S315S0.25
COADchr1166701196Missense_Mutationrs767999498T968M0.15
ESCAchr1166699041Missense_Mutationrs557577438R1273H0.27
ESCAchr1166687895Frame_Shift_DelnovelL2158Rfs*1300.36
ESCAchr1166693032Silentrs200296553A1641A0.36
ESCAchr1166691403Missense_MutationNAR1816W0.21
ESCAchr1166691471Missense_MutationnovelR1793Q0.44
ESCAchr1166698995Silentrs764690665H1288H0.45
ESCAchr1166691361Missense_MutationnovelR1830C0.24
GBMchr1166701229Missense_MutationnovelA957V0.09
GBMchr1166692623Silentrs199954244R1701R0.43
GBMchr1166721158Missense_MutationnovelL28P0.08
GBMchr1166691405Missense_MutationnovelA1815V0.28
GBMchr1166693293Nonsense_MutationnovelR1583*0.42
GBMchr1166693408Silentrs139176086I1544I0.25
GBMchr1166696465Missense_Mutationrs372626707R1364C0.45
GBMchr1166691610Missense_MutationnovelG1747C0.08
GBMchr1166692566Silentrs763157375H1720H0.91
GBMchr1166688793Missense_MutationnovelS2031C0.15
GBMchr1166693222SilentnovelE1606E0.15
GBMchr1166691349Missense_Mutationrs745978030A1834T0.14
GBMchr1166693261Missense_MutationnovelF1593L0.51
GBMchr1166693030Missense_MutationnovelQ1642L0.15
GBMchr1166721087Missense_MutationnovelA52T0.17
GBMchr1166715893SilentnovelY82Y0.36
GBMchr1166714123SilentnovelG208G0.45
HNSCchr1166693067Frame_Shift_DelnovelQ1624Pfs*260.11
HNSCchr1166691508Missense_Mutationrs777756110E1781K0.31
HNSCchr1166688289Missense_Mutationrs143781509R2085Q0.32
HNSCchr1166699462SilentnovelS1240S0.31
HNSCchr1166694316SilentnovelI1442I0.29
HNSCchr1166687469Missense_Mutationrs370257588R2227H0.36
HNSCchr1166721230Missense_Mutationrs749463565T4M0.13
HNSCchr1166704974Missense_MutationNAR768C0.14
HNSCchr1166699456SilentnovelG1242G0.29
HNSCchr1166708931Missense_Mutationrs773857389E388K0.27
HNSCchr1166701005Nonsense_MutationNAQ1032*0.09
HNSCchr1166700949SilentnovelL1050L0.3
HNSCchr1166715835Frame_Shift_DelnovelI102Yfs*470.18
HNSCchr1166696479Missense_MutationnovelR1359T0.24
HNSCchr1166693241Missense_MutationnovelA1600V0.24
HNSCchr1166705724Silentrs748966229A589A0.13
HNSCchr1166692569SilentnovelS1719S0.22
HNSCchr1166696467Missense_MutationnovelR1363K0.15
KIRCchr1166686384Intronrs3704035610.33
KIRCchr1166690236SilentnovelA1871A0.15
KIRCchr1166692572Frame_Shift_DelnovelS1719Pfs*110.21
KIRCchr1166704780SilentnovelR832R0.2
KIRCchr1166715917SilentNAV74V0.28
KIRPchr1166721094Missense_MutationNAK49N0.49
KIRPchr1166700812Missense_MutationNAT1096N0.54
KIRPchr1166705373Missense_MutationnovelA635T0.38
LAMLchr1166701683Missense_MutationnovelA906V0.15
LGGchr1166693406Missense_Mutationrs150801133A1545V0.21
LGGchr1166698692Missense_MutationnovelA1321T0.34
LGGchr1166704627SilentnovelR883R0.2
LIHCchr1166699084Splice_SitenovelX1259_splice0.3
LIHCchr1166688835Missense_MutationnovelV2017L0.28
LIHCchr1166708182Missense_MutationnovelR437W0.23
LIHCchr1166705410Missense_MutationNAS622R0.63
LIHCchr1166696425Missense_Mutationrs767535278R1377H0.37
LIHCchr1166704827SilentnovelL817L0.41
LIHCchr1166705772Silentrs148207416H573H0.4
LIHCchr1166700872Missense_MutationnovelD1076V0.21
LIHCchr1166715925Missense_MutationnovelA72S0.06
LIHCchr1166693284Missense_MutationNAD1586Y0.37
LUADchr1166693082Missense_Mutationrs751736175A1625T0.22
LUADchr1166704931Missense_Mutationrs755618733T782M0.29
LUADchr1166687868Splice_RegionNAP2167P0.46
LUADchr1166685895Missense_MutationnovelF2383L0.08
LUADchr1166688171Splice_Regionrs770289355D2124D0.21
LUADchr1166694188Missense_MutationnovelQ1485R0.09
LUADchr1166692617SilentNAL1703L0.11
LUADchr1166689929Missense_MutationNAA1942V0.37
LUADchr1166700902Missense_Mutationrs527626787R1066Q0.09
LUADchr1166721111Missense_MutationnovelE44Q0.06
LUADchr1166691452Silentrs769209192A1799A0.13
LUADchr1166685895SilentnovelF2383F0.24
LUADchr1166704908Missense_MutationnovelR790W0.28
LUADchr1166700710Missense_MutationnovelE1130A0.67
LUADchr1166710754Missense_MutationNAM301L0.11
LUADchr1166699577Missense_MutationnovelG1202V0.15
LUADchr1166715856Missense_MutationNAL95F0.37
LUADchr1166708243Silentrs775075151E416E0.26
LUADchr1166707669Missense_MutationnovelK500N0.29
LUADchr1166694187Missense_MutationNAQ1485H0.18
LUADchr1166692981Missense_MutationNAE1658D0.72
LUADchr1166693259Missense_MutationnovelY1594F0.24
LUADchr1166707711Silentrs576311723A486A0.06
LUADchr1166710704SilentnovelL317L0.16
LUSCchr1166705465Missense_MutationNAY604C0.4
LUSCchr1166701061Missense_MutationnovelA1013V0.64
LUSCchr1166692595Frame_Shift_DelnovelQ1708Rfs*190.33
LUSCchr1166705373Missense_MutationNAA635S0.23
LUSCchr1166715894Missense_MutationNAY82C0.75
LUSCchr1166688259Missense_Mutationrs774653711R2095Q0.13
LUSCchr1166700825Missense_MutationNAE1092K0.3
LUSCchr1166707665Missense_MutationnovelI502F0.55
LUSCchr1166705325Missense_MutationnovelG651R0.22
LUSCchr1166699003Missense_MutationnovelD1286N0.57
LUSCchr1166705700Missense_MutationnovelF597L0.3
LUSCchr1166704904Missense_MutationNAA791V0.22
LUSCchr1166721224Missense_MutationNAS6L0.15
LUSCchr1166701608Missense_MutationNAN931S0.11
LUSCchr1166693292Missense_MutationNAR1583Q0.21
LUSCchr1166689811Silentrs761380862A1981A0.2
LUSCchr1166701583Splice_SitenovelX939_splice0.38
LUSCchr1166687596Missense_Mutationrs765660173R2185W0.17
LUSCchr1166715377Missense_MutationNAR110C0.11
LUSCchr1166707606Silentrs370685694A521A0.2
LUSCchr1166700903Missense_MutationnovelR1066W0.14
MESOchr1166686120Intronnovel0.16
OVchr1166693076Missense_MutationNAV1627L0.37
OVchr1166693073Missense_MutationnovelK1628E0.11
OVchr1166710925Missense_MutationnovelI293V0.07
OVchr1166687581Frame_Shift_DelnovelA2190Pfs*1270.23
OVchr1166696368Missense_MutationnovelE1396G0.6
OVchr1166691412Frame_Shift_DelNAA1813Pfs*1070.29
OVchr1166691414Frame_Shift_DelnovelR1805Qfs*1080.25
OVchr1166688188Missense_MutationNAS2119T0.33
OVchr1166704950Missense_MutationnovelG776R0.08
OVchr1166699503Missense_Mutationrs766811381R1227W0.34
OVchr1166691339Missense_MutationnovelA1837V0.06
OVchr1166708938SilentnovelT385T0.06
OVchr1166686087Missense_MutationNAW2319C0.08
OVchr1166688844Nonsense_MutationNAE2014*0.12
OVchr1166693226Frame_Shift_DelnovelG1605Afs*70.04
OVchr1166704657In_Frame_InsnovelQ873_W874insLSV0.36
OVchr1166694350Missense_MutationnovelE1431V0.04
PAADchr1166687505Missense_MutationnovelP2215L0.1
PAADchr1166700973Missense_MutationnovelE1042D0.15
PAADchr11666858563'UTRnovel0.14
PAADchr1166687590Missense_MutationNAR2187W0.19
PAADchr1166688724Missense_Mutationrs761586529R2054W0.2
PAADchr1166692703SilentnovelL1675L0.18
PAADchr1166694288Missense_MutationnovelE1452K0.04
PAADchr1166700655Missense_MutationnovelE1148D0.18
PAADchr1166704699Silentrs777964981S859S0.15
PCPGchr1166689814SilentnovelA1980A0.98
PCPGchr11666858173'UTRnovel0.42
PRADchr1166701058Missense_MutationNAR1014Q0.16
PRADchr1166699027Missense_Mutationrs373743022R1278W0.44
PRADchr1166686233Intronnovel0.31
PRADchr1166691323SilentnovelH1842H0.4
PRADchr1166694361Missense_MutationnovelM1427I0.31
PRADchr1166707768Silentrs747312193H467H0.1
READchr1166710639Missense_MutationNAG339E0.28
READchr1166699060Missense_MutationnovelA1267T0.15
READchr1166687522Silentrs753498663P2209P0.61
READchr1166710741Missense_Mutationrs770418403R305H0.35
READchr1166694182Missense_MutationnovelS1487Y0.15
READchr1166692579Missense_MutationnovelV1716A0.34
READchr1166687095SilentnovelS2265S0.49
READchr1166688745Missense_Mutationrs201985455E2047K0.41
READchr1166715341Missense_Mutationrs376084729A122T0.55
SARCchr1166690106Missense_MutationnovelA1915P0.11
SARCchr1166690107SilentnovelK1914K0.11
SARCchr1166708911Missense_MutationnovelD394E0.07
SARCchr1166705834Missense_Mutationrs116099040R553W0.5
SARCchr1166692576Missense_Mutationrs376579703A1717V0.63
SKCMchr1166689889Silentrs771691919E1955E0.53
SKCMchr1166693810Missense_MutationNAD1519N0.36
SKCMchr1166700951Missense_MutationnovelL1050F0.32
SKCMchr1166707579SilentNAN530N0.77
SKCMchr1166708201Silentrs538691061F430F0.19
SKCMchr1166688693Missense_MutationNAA2064V0.2
SKCMchr1166705693Missense_MutationNAP600S0.28
SKCMchr1166699476Missense_Mutationrs201646010R1236C0.5
SKCMchr1166701064Missense_MutationnovelA1012V0.06
SKCMchr1166700624Nonsense_MutationNAR1159*0.6
SKCMchr1166705014Silentrs368022952A754A0.72
SKCMchr1166687527SilentNAL2208L0.47
SKCMchr1166714396SilentNAI165I0.45
SKCMchr1166700902Missense_Mutationrs527626787R1066Q0.26
SKCMchr1166707612Missense_MutationNAM519I0.28
SKCMchr1166686337Intronnovel0.41
SKCMchr1166693254Missense_MutationNAD1596N0.23
SKCMchr1166700893Missense_MutationNAD1069G0.21
SKCMchr1166707585SilentNAL528L0.2
SKCMchr1166691403Missense_MutationNAR1816W0.68
SKCMchr1166687042Missense_MutationnovelG2283D0.1
SKCMchr1166687043Missense_MutationnovelG2283S0.1
SKCMchr1166700912Missense_MutationNAE1063K0.51
SKCMchr1166705688SilentNAG601G0.32
SKCMchr1166691521SilentnovelK1776K0.06
SKCMchr1166694254Missense_Mutationrs768355416S1463L0.71
SKCMchr1166701040Missense_Mutationrs758312194R1020Q0.48
SKCMchr1166708977SilentNAI372I0.33
SKCMchr1166707714Silentrs761617060D485D0.09
SKCMchr1166687594SilentNAR2185R0.32
SKCMchr1166707519Missense_MutationnovelM550I0.19
SKCMchr1166688016SilentNAG2146G0.58
SKCMchr1166690192Missense_MutationNAA1886V0.5
SKCMchr1166700756Missense_MutationnovelE1115K0.42
SKCMchr1166700757SilentnovelV1114V0.42
SKCMchr1166691291Missense_MutationNAS1853N0.27
SKCMchr1166705122SilentnovelA718A0.62
SKCMchr1166701165SilentnovelT978T0.13
SKCMchr1166701269Missense_Mutationrs750219209R944W0.19
SKCMchr1166690079Missense_MutationNAD1924N0.42
SKCMchr1166708209Missense_MutationNAA428T0.33
SKCMchr1166689844SilentNAG1970G0.08
SKCMchr1166689879Missense_Mutationrs774111091R1959W0.24
SKCMchr1166701140SilentnovelL987L0.29
SKCMchr1166700771SilentnovelL1110L0.57
SKCMchr1166700772SilentnovelA1109A0.62
SKCMchr1166708144SilentnovelS449S0.31
SKCMchr1166686375Intronnovel0.42
SKCMchr1166704994Missense_MutationnovelA761V0.49
STADchr1166693413Missense_Mutationrs779489841R1543W0.19
STADchr1166691455Silentrs764744589A1798A0.63
STADchr1166705373Missense_MutationnovelA635P0.14
STADchr1166698724Missense_Mutationrs201852582R1310H0.11
STADchr1166698693Missense_MutationNAQ1320H0.14
STADchr1166704907Missense_MutationNAR790Q0.35
STADchr1166692694Missense_Mutationrs768814631G1678S0.24
STADchr1166705723Missense_Mutationrs780059779V590I0.18
STADchr1166715371Missense_MutationNAR112W0.44
STADchr1166687129Missense_MutationnovelS2254I0.3
STADchr1166699514Missense_MutationnovelA1223V0.32
STADchr1166704820Missense_Mutationrs753107176R819H0.47
STADchr1166711027Missense_Mutationrs767017885V259M0.22
STADchr1166686093SilentNAS2317S0.25
STADchr1166708938Silentrs773673472T385T0.1
STADchr1166693038Missense_MutationNAD1639E0.1
STADchr1166692587Silentrs146602750R1713R0.3
STADchr1166694204Missense_Mutationrs113974204R1480C0.34
STADchr1166694204Missense_Mutationrs113974204R1480C0.12
STADchr1166700555Frame_Shift_DelnovelR1182Vfs*370.34
STADchr1166715842Silentrs762103483S99S0.37
STADchr1166700852Missense_MutationnovelR1083C0.11
STADchr1166708991SilentnovelL368L0.09
STADchr1166708992Silentrs765495317V367V0.08
STADchr1166692582Missense_MutationNAV1715A0.34
STADchr1166700796Missense_MutationNAE1101D0.31
STADchr1166685935Missense_Mutationrs145522851R2370H0.16
STADchr1166700903Missense_MutationnovelR1066W0.22
STADchr1166692678Missense_MutationnovelA1683V0.38
STADchr1166701156Silentrs139352096I981I0.24
STADchr1166691349Missense_Mutationrs745978030A1834T0.28
STADchr1166694192Missense_MutationNAL1484M0.11
STADchr1166701671Missense_Mutationrs532746761A910V0.2
STADchr1166705437Silentrs774265056S613S0.23
STADchr1166688752Silentrs754538137T2044T0.15
STADchr1166694293Missense_MutationNAA1450V0.29
TGCTchr1166693799Missense_MutationnovelS1522R0.05
THCAchr1166715932In_Frame_InsnovelT64_S69dup0.05
THCAchr1166705362Silentrs367863277E638E0.12
THCAchr1166688268Frame_Shift_DelnovelE2092Gfs*2250.18
UCECchr1166700930Nonsense_Mutationrs781377530R1057*0.5
UCECchr1166715229Missense_MutationNAR159Q0.31
UCECchr1166700540Missense_Mutationrs369739429V1187M0.25
UCECchr1166692625Missense_Mutationrs770136906R1701C0.4
UCECchr1166693313Missense_MutationNAE1576G0.24
UCECchr1166704886Missense_Mutationrs763402581R797Q0.52
UCECchr1166686253Intronrs5766153510.18
UCECchr1166691435Missense_MutationnovelR1805H0.11
UCECchr1166699043SilentNAG1272G0.18
UCECchr1166699517Missense_MutationnovelD1222G0.32
UCECchr1166714132Nonsense_MutationnovelW205*0.42
UCECchr1166708933Missense_Mutationrs772590586R387H0.36
UCECchr1166704709Missense_MutationNAT856I0.19
UCECchr1166704839Missense_MutationnovelL813M0.5
UCECchr1166715898Missense_Mutationrs772427786L81M0.3
UCECchr1166701629Frame_Shift_DelNAP924Qfs*350.14
UCECchr1166704739Missense_MutationnovelR846Q0.48
UCECchr1166686038Missense_Mutationrs765015336E2336K0.78
UCECchr1166687869Missense_MutationnovelP2167L0.39
UCECchr11666857793'UTRnovel0.15
UCECchr1166687868Splice_RegionNAP2167P0.49
UCECchr1166686270Intronrs5359807310.15
UCECchr1166715842Silentrs762103483S99S0.22
UCECchr1166696425Missense_Mutationrs767535278R1377H0.14
UCECchr1166699060Missense_MutationnovelA1267S0.09
UCECchr1166699445Missense_MutationNAA1246V0.21
UCECchr1166707767Missense_MutationnovelE468K0.33
UCECchr1166711021Missense_MutationNAV261M0.42
UCECchr1166715352Missense_MutationNAN118S0.42
UCECchr1166686424Nonsense_MutationNAE2305*0.06
UCECchr1166699058Silentrs776179938A1267A0.09
UCECchr1166687589Missense_Mutationrs775830950R2187Q0.24
UCECchr1166691290SilentNAS1853S0.18
UCECchr1166691544Missense_Mutationrs146455382R1769W0.48
UCECchr1166701092Missense_Mutationrs770666144G1003S0.32
UCECchr1166692622Missense_Mutationrs781647988E1702K0.17
UCECchr1166710962Missense_MutationNAF280L0.43
UCECchr1166693408Missense_MutationnovelI1544M0.36
UCECchr1166710927Missense_MutationNAR292I0.39
UCECchr1166688730Missense_MutationnovelI2052V0.31
UCECchr1166689928Silentrs373276784A1942A0.24
UCECchr1166701051Silentrs540897209G1016G0.32
UCECchr1166704816Silentrs776096922T820T0.32
UCECchr1166691453Missense_Mutationrs775098613A1799V0.42
UCECchr1166692589Missense_Mutationrs754809056R1713C0.48
UCECchr1166700763SilentnovelG1112G0.48
UCECchr1166687155Silentrs750664912N2245N0.38
UCECchr1166705798Nonsense_MutationnovelG565*0.33
UCECchr1166693010Missense_MutationNAA1649T0.44
UCECchr1166699033Missense_MutationnovelD1276H0.65
UCECchr1166704709Missense_MutationNAT856I0.37
UCECchr1166715312SilentnovelV131V0.06
UCECchr1166704737Missense_MutationnovelA847T0.5
UCECchr1166701629Frame_Shift_DelNAP924Qfs*350.2
UCECchr1166689146Missense_Mutationrs139107445R1995H0.41
UCECchr1166721101Missense_Mutationrs768391963R47H0.22
UCECchr1166694248Missense_MutationnovelA1465V0.46
UCECchr1166696277Missense_MutationnovelQ1426H0.42
UCECchr1166696428Missense_MutationnovelA1376V0.54
UCECchr1166721096Missense_MutationnovelK49E0.52
UCECchr1166685963Missense_Mutationrs374211174V2361I0.41
UCECchr1166698767Missense_MutationNAE1296K0.33
UCECchr1166704891Missense_MutationNAE795D0.41
UCECchr1166686261Intronnovel0.18
UCECchr1166699073Missense_MutationnovelK1262N0.5
UCECchr1166715226Missense_MutationnovelF160S0.13
UCECchr1166693033Missense_Mutationrs376009552A1641V0.27
UCECchr1166685964Silentrs368166748P2360P0.38
UCECchr1166701249SilentnovelK950K0.54
UCECchr1166704887Nonsense_MutationNAR797*0.1
UCECchr1166710927Missense_MutationNAR292I0.42
UCECchr1166701195Silentrs143948660T968T0.32
UCECchr1166704701Missense_MutationnovelS859R0.46
UCECchr1166700586SilentnovelA1171A0.09
UCECchr1166700907Silentrs371684236A1064A0.24
UCECchr1166686325Intronnovel0.08
UCECchr1166687015Missense_MutationnovelR2292H0.33
UCECchr1166689146Missense_Mutationrs139107445R1995H0.29
UCECchr1166687034Missense_MutationNAA2286T0.46
UCECchr1166687583Missense_Mutationrs376249009P2189L0.44
UCECchr1166698758Missense_MutationnovelL1299M0.38
UCECchr1166693376Missense_MutationnovelG1555V0.15
UCECchr11666857003'UTRnovel0.41
UCECchr11666857993'UTRnovel0.19
UCECchr1166694254Missense_Mutationrs768355416S1463L0.43
UCECchr11667212525'UTRnovel0.18
UCECchr1166688068Missense_Mutationrs777143650R2129Q0.09
UCECchr1166686202Intronnovel0.45
UCECchr1166686991Splice_Regionrs7776558670.3
UCECchr1166687612SilentnovelR2179R0.42
UCECchr1166691478Missense_MutationnovelD1791N0.41
UCECchr1166700608Missense_MutationNAR1164Q0.31
UCECchr1166694276Missense_MutationNAA1456T0.26
UCECchr1166699542Frame_Shift_InsnovelL1214Tfs*280.32
UCECchr1166690100Missense_MutationNAR1917W0.36
UCECchr1166701189SilentNAT970T0.4
UCECchr1166707759SilentnovelI470I0.13
UCECchr1166707605Missense_Mutationrs376773049A522T0.38
UCECchr1166691582Missense_Mutationrs754055406A1756V0.43
UCECchr1166688069Missense_Mutationrs556784868R2129W0.29
UCECchr1166699543Frame_Shift_DelnovelK1213Nfs*60.42
UCECchr1166687629Missense_MutationNAE2174K0.3
UCECchr1166688045Missense_MutationNAP2137T0.3
UCECchr1166688694Missense_MutationNAA2064T0.23
UCECchr1166710927Missense_MutationNAR292I0.29
UCECchr11667213625'UTRnovel0.38
UCECchr1166685875Missense_MutationnovelK2390T0.22
UCECchr1166698738SilentnovelS1305S0.53
UCECchr1166685971Missense_MutationnovelV2358A0.15
UCECchr1166686118Intronrs1891526780.28
UCECchr1166688015Missense_MutationnovelE2147K0.15
UCECchr1166693392Missense_Mutationrs757086442R1550W0.49
UCECchr1166696448Missense_MutationnovelE1369D0.39
UCECchr1166715229Missense_MutationNAR159Q0.44
UCECchr1166688762Missense_MutationnovelL2041P0.52
UCECchr1166698661Missense_MutationnovelD1331G0.4
UCECchr1166686161Intronnovel0.5
UCECchr1166692718Missense_MutationNAA1670T0.11
UCECchr1166700865Missense_MutationnovelQ1078H0.25
UCECchr1166701672Missense_MutationNAA910T0.38
UCECchr1166710598Missense_MutationnovelV353M0.36
UCECchr1166705834Missense_Mutationrs116099040R553W0.32
UCECchr1166701586Splice_RegionNAH938H0.31
UCECchr1166691652Nonsense_MutationnovelR1733*0.39
UCECchr1166692587Silentrs146602750R1713R0.32
UCECchr1166693077SilentnovelE1626E0.25
UCECchr1166693241Missense_MutationnovelA1600V0.44
UCECchr1166701266Missense_Mutationrs201807685R945C0.39
UCECchr1166704813SilentnovelP821P0.4
UCECchr1166707731Missense_Mutationrs397514749R480W0.38
UCECchr1166687055Missense_MutationnovelA2279T0.24
UCECchr1166689130Missense_MutationnovelE2000D0.47
UCECchr1166696435Missense_Mutationrs199675740A1374T0.42
UCECchr1166701021SilentnovelA1026A0.4
UCECchr1166701189Silentrs769498634T970T0.26

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ESCAAMP0.25540.018342
TGCTDEL0.70.21504

Survival Analysis
CancerP-value Q-value
KIRC0.0001

Kaplan-Meier Survival Analysis

SARC0.011

Kaplan-Meier Survival Analysis

UCS0.034

Kaplan-Meier Survival Analysis

HNSC0.032

Kaplan-Meier Survival Analysis

SKCM0.039

Kaplan-Meier Survival Analysis

ESCA0.026

Kaplan-Meier Survival Analysis

COAD0.025

Kaplan-Meier Survival Analysis

PAAD0.00075

Kaplan-Meier Survival Analysis

BLCA0.0015

Kaplan-Meier Survival Analysis

LAML0.0031

Kaplan-Meier Survival Analysis

UCEC0.027

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

LUAD0.008

Kaplan-Meier Survival Analysis

UVM0.039

Kaplan-Meier Survival Analysis

OV0.044

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
ENSG00000173898 (Gene tree)
Gene ID
6712
Gene Symbol
SPTBN2
Alias
SCA5
Full Name
spectrin beta, non-erythrocytic 2
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
46,742 bases
Position
chr11:66,682,496-66,729,237
Accession
11276
RBP type
non-canonical RBP
Summary
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000309996SPTBN2-2017866XM_006718669ENSP000003114892390 (aa)XP_006718732O15020
ENST00000527010SPTBN2-202859-ENSP00000433631117 (aa)-E9PJZ2
ENST00000530665SPTBN2-205462--- (aa)--
ENST00000647510SPTBN2-2128323--- (aa)--
ENST00000530775SPTBN2-206473--- (aa)--
ENST00000528051SPTBN2-203573--- (aa)--
ENST00000611817SPTBN2-2102890-ENSP00000480692934 (aa)-A4QPE4
ENST00000532650SPTBN2-207571--- (aa)--
ENST00000617502SPTBN2-2113498-ENSP00000482000934 (aa)-A4QPE4
ENST00000532902SPTBN2-208573--- (aa)--
ENST00000529997SPTBN2-2048085-ENSP000004335932365 (aa)-O15020
ENST00000533211SPTBN2-2098128XM_005274192ENSP000004325682390 (aa)XP_005274249O15020
Gene Model
Click here to download ENSG00000173898's gene model file
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000173898rs559089051166710394ABreast cancer29059683[0.018-0.046] unit increase0.032EFO_0000305
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000173898's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000165MAPK cascade-TASProcess
GO:0003779actin binding-IEAFunction
GO:0005200structural constituent of cytoskeleton9826670.TASFunction
GO:0005543phospholipid binding-IEAFunction
GO:0005615extracellular space22664934.HDAComponent
GO:0005829cytosol-IDAComponent
GO:0005829cytosol-TASComponent
GO:0006888ER to Golgi vesicle-mediated transport-TASProcess
GO:0007010cytoskeleton organization-IEAProcess
GO:0007411axon guidance-TASProcess
GO:0007416synapse assembly-IEAProcess
GO:0008091spectrin9826670.IDAComponent
GO:0016192vesicle-mediated transport9826670.IDAProcess
GO:0016324apical plasma membrane-IEAComponent
GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II-TASProcess
GO:0021692cerebellar Purkinje cell layer morphogenesis-IEAProcess
GO:0030054cell junction-IDAComponent
GO:0030534adult behavior-IEAProcess
GO:0035264multicellular organism growth-IEAProcess
GO:0043025neuronal cell body-IEAComponent
GO:0045296cadherin binding25468996.HDAFunction
GO:0051693actin filament capping-IEAProcess
GO:0098688parallel fiber to Purkinje cell synapse-IEAComponent
GO:0098793presynapse-IEAComponent
GO:0098918structural constituent of synapse-IEAFunction
GO:0098978glutamatergic synapse-IEAComponent
GO:0099173postsynapse organization-IEAProcess
GO:0099189postsynaptic spectrin-associated cytoskeleton-IEAComponent
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