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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
16537497Mechanism of Akt1 inhibition of breast cancer cell invasion reveals a protumorigenic role for TSC2.Proc Natl Acad Sci U S A2006 Mar 14Liu H-
16897363Giant cells: contradiction to two-hit model of tuber formation?Cell Mol Neurobiol2007 MarJozwiak J-
27748010Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.Pediatr Blood Cancer2017 MayPotter SLdoi: 10.1002/pbc.26286
12582162The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3.J Biol Chem2003 Apr 18Li Y-
17922028Ras mediates cell survival by regulating tuberin.Oncogene2008 Mar 27Freilinger A-
27278252Tuberin regulates reactive oxygen species in renal proximal cells, kidney from rodents, and kidney from patients with tuberous sclerosis complex.Cancer Sci2016 AugHabib SLdoi: 10.1111/cas.12984
21036916Erythropoietin-driven proliferation of cells with mutations in the tumor suppressor gene TSC2.Am J Physiol Lung Cell Mol Physiol2011 JanIkeda Ydoi: 10.1152/ajplung.00095.2010
16258273Growth control under stress: mTOR regulation through the REDD1-TSC pathway.Cell Cycle2005 NovEllisen LW-
18926585Role of TSC-mTOR pathway in diabetic nephropathy.Diabetes Res Clin Pract2008 Nov 13Inoki Kdoi: 10.1016/j.diabres.2008.09.028
17470459p27Kip1 localization depends on the tumor suppressor protein tuberin.Hum Mol Genet2007 Jul 1Rosner M-
25355409Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.Pediatr Radiol2015 MarBack SJdoi: 10.1007/s00247-014-3147-1
15231735Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome.Genes Dev2004 Jul 1Corradetti MN-
22090422Tuberin and PRAS40 are anti-apoptotic gatekeepers during early human amniotic fluid stem-cell differentiation.Hum Mol Genet2012 Mar 1Fuchs Cdoi: 10.1093/hmg/ddr535
26975632Gankyrin activates mTORC1 signaling by accelerating TSC2 degradation in colorectal cancer.Cancer Lett2016 Jun 28Qin Xdoi: 10.1016/j.canlet.2016.03.013
25185584High-throughput drug screen identifies chelerythrine as a selective inducer of death in a TSC2-null setting.Mol Cancer Res2015 JanMedvetz Ddoi: 10.1158/1541-7786.MCR-14-0440
22287548Macrophage-induced tumor angiogenesis is regulated by the TSC2-mTOR pathway.Cancer Res2012 Mar 15Chen Wdoi: 10.1158/0008-5472.CAN-11-2684
23878245Reactive nitrogen species regulate autophagy through ATM-AMPK-TSC2-mediated suppression of mTORC1.Proc Natl Acad Sci U S A2013 Aug 6Tripathi DNdoi: 10.1073/pnas.1307736110
27494029Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.PLoS Genet2016 Aug 5Giannikou Kdoi: 10.1371/journal.pgen.1006242
20658316Polymorphic variants in TSC1 and TSC2 and their association with breast cancer phenotypes.Breast Cancer Res Treat2011 FebMehta MSdoi: 10.1007/s10549-010-1062-1
25114899Sensitization of cancer cells through reduction of total Akt and downregulation of salinomycin-induced pAkt, pGSk3β, pTSC2, and p4EBP1 by cotreatment with MK-2206.Biomed Res Int2014Choi ARdoi: 10.1155/2014/295760
16213898Expression and prognostic value of tuberous sclerosis complex 2 gene product tuberin in human pancreatic cancer.Surgery2005 SepKataoka K-
18848473The TSC-mTOR signaling pathway regulates the innate inflammatory response.Immunity2008 Oct 17Weichhart Tdoi: 10.1016/j.immuni.2008.08.012
20145209ARD1 stabilization of TSC2 suppresses tumorigenesis through the mTOR signaling pathway.Sci Signal2010 Feb 9Kuo HPdoi: 10.1126/scisignal.2000590.
26318033AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf, and TSC1/TSC2.Oncotarget2015 Sep 29Lin HPdoi: 10.18632/oncotarget.4553.
29167182TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias.Endocr Relat Cancer2018 FebAsprino PFdoi: 10.1530/ERC-17-0286

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr162086868Missense_MutationnovelI1662M0.05
BLCAchr162079297SilentNAL1051L0.09
BLCAchr162080214SilentnovelF1149F0.27
BLCAchr162084682Missense_Mutationrs766916450S1487C0.38
BLCAchr162086223Missense_MutationnovelE1565Q0.14
BLCAchr162060795Silentrs45517149R367R0.37
BLCAchr162048702SilentnovelR29R0.33
BLCAchr162079414Silentrs754951889S1090S0.08
BLCAchr162081629Silentrs758114962P1215P0.24
BLCAchr162050463Missense_Mutationrs767626323A68T0.14
BLCAchr162088121Silentrs147147042Q1714Q0.41
BLCAchr162048648SilentnovelL11L0.34
BLCAchr162065599SilentnovelV560V0.1
BLCAchr162074332Missense_MutationnovelL830V0.18
BLCAchr162075868Missense_MutationNAS872F0.23
BLCAchr162071803Nonsense_MutationNAE656*0.26
BLCAchr162086339Silentrs147578602D1603D0.32
BLCAchr162060793Missense_Mutationrs757844109R367W0.85
BLCAchr162074382SilentnovelF846F0.47
BLCAchr162080276Nonsense_Mutationrs45517296S1170*0.12
BLCAchr162077669Missense_Mutationrs758447107S970C0.6
BRCAchr162054325SilentnovelL122L0.24
BRCAchr162058762Silentrs780887572D288D0.32
BRCAchr162084656Silentrs758374702D1478D0.12
BRCAchr162084402SilentnovelL1394L0.32
BRCAchr162062512Missense_MutationNAN425Y0.22
BRCAchr162076576Missense_MutationNAR943K0.38
BRCAchr162072249Missense_MutationnovelD702E0.1
BRCAchr162086342Silentrs397515103G1604G0.27
BRCAchr162085231Missense_MutationNAS1524L0.15
BRCAchr162084597Nonsense_Mutationrs45517340R1459*0.28
BRCAchr162065621Missense_MutationnovelL568V0.07
BRCAchr162084568Missense_MutationNAS1449C0.26
BRCAchr162055459Missense_MutationnovelL180P0.08
BRCAchr162088235SilentnovelS1723S0.33
CESCchr162071587SilentnovelR639R0.67
CESCchr162072297SilentnovelR718R0.14
CESCchr162079554Splice_Regionnovel0.19
CESCchr162081602SilentNAT1206T0.23
CESCchr162088074Missense_Mutationrs370864445V1699M0.37
CESCchr162058834SilentNAL312L0.34
CESCchr162079135Missense_MutationNAE1024K0.41
CESCchr162086840Missense_Mutationrs45517383S1653F0.34
CESCchr162081798Frame_Shift_InsnovelV1272Afs*570.09
CESCchr162079554Splice_Regionnovel0.3
CESCchr162056736SilentNAI247I0.11
CESCchr162071564Missense_MutationnovelP632S0.7
CESCchr162056225Missense_Mutationrs764925296A210V0.33
CESCchr162056644Missense_MutationnovelV217I0.28
CESCchr162071586Missense_Mutationrs753932484R639Q0.36
CESCchr162079295Missense_MutationnovelL1051I0.43
CESCchr162083801Silentrs369943684T1330T0.39
CESCchr162084619Missense_Mutationrs45517341S1466L0.36
CESCchr162084390Nonsense_Mutationrs397515033E1390*0.18
CESCchr162061883Missense_MutationNAP378T0.27
CESCchr162076558Frame_Shift_InsnovelT938Lfs*110.06
CESCchr162087871Missense_MutationNAF1666L0.26
CESCchr162064342Missense_Mutationrs376285784R505Q0.43
CESCchr162065599SilentNAV560V0.32
CESCchr162079075Missense_MutationNAD1004N0.31
CESCchr162079354Silentrs539927192T1070T0.24
CESCchr162076532Silentrs45517267P928P0.37
COADchr162053394Missense_MutationNAR93L0.07
COADchr162050436Missense_MutationNAR59W0.41
COADchr162055442SilentNAS174S0.28
COADchr162056742SilentNAV249V0.47
COADchr162074310Silentrs141728350A822A0.27
COADchr162080355Silentrs771550363E1196E0.34
COADchr162061920Missense_MutationNAT390M0.25
COADchr162056729Missense_Mutationrs397515011R245H0.56
COADchr162088599Missense_Mutationrs376017665E1805K0.29
COADchr162079086Silentrs201516931S1007S0.13
COADchr162071855Missense_Mutationrs745897413A673V0.44
COADchr162080321Missense_MutationNAA1185V0.38
COADchr162084446SilentNAG1408G0.33
COADchr162072323Missense_MutationNAP727H0.28
COADchr162080310Silentrs139313964T1181T0.34
COADchr162065529Missense_Mutationrs372681603R537H0.55
COADchr162086811Silentrs45517381N1643N0.35
COADchr162084449SilentNAR1409R0.11
COADchr162054303Missense_Mutationrs764529584R115H0.25
COADchr162088134Missense_Mutationrs201206500A1719T0.23
COADchr162076497Missense_Mutationrs781587135R917W0.24
COADchr162072848Splice_SiteNAX741_splice0.15
COADchr162056711In_Frame_DelNAI240del0.36
COADchr162084499Frame_Shift_DelNAS1427Vfs*490.21
COADchr162048677Missense_MutationnovelL21P0.2
COADchr162056716Missense_Mutationrs200943828V241I0.33
COADchr162079067Missense_Mutationrs368878445G1001V0.12
COADchr162055449Missense_MutationnovelL177F0.04
ESCAchr162081768Missense_MutationnovelK1262E0.18
ESCAchr162061976Nonsense_MutationnovelE409*0.29
ESCAchr162080298SilentnovelV1177V0.25
ESCAchr162084251SilentnovelE1343E0.33
ESCAchr162053478Intronnovel0.47
ESCAchr162076498Missense_Mutationrs397515046R917Q0.67
ESCAchr162060682Missense_MutationnovelP330A0.26
ESCAchr162076083SilentnovelI885I0.12
ESCAchr162053375Missense_MutationnovelD87Y0.38
GBMchr162072905Missense_MutationnovelR759S0.5
GBMchr162085281Missense_Mutationrs796872464D1541N0.07
GBMchr162074250Missense_MutationnovelS802R0.12
GBMchr162084715Missense_Mutationrs137854879S1498N0.13
GBMchr162088136SilentnovelA1719A0.21
GBMchr162074319SilentnovelV825V0.19
GBMchr162070541Missense_MutationnovelS601I0.71
GBMchr162088317Missense_Mutationrs781630603R1751C0.76
HNSCchr162077693Missense_MutationNAR978H0.19
HNSCchr162085262Silentrs368534883L1534L0.15
HNSCchr162070558Missense_Mutationrs45517203A607T0.33
HNSCchr162061961Nonsense_Mutationrs45457701Q404*0.22
HNSCchr162082474Missense_MutationnovelG1285R0.04
HNSCchr162071791Missense_MutationnovelE652Q0.17
HNSCchr162048709Missense_MutationnovelE32Q0.08
HNSCchr162077658SilentnovelF966F0.26
HNSCchr1620486025'UTRnovel0.1
KICHchr162063033Missense_MutationnovelI475F0.43
KICHchr162079289Missense_Mutationrs796053492E1049K0.42
KIRCchr162061907Missense_MutationNAD386N0.33
KIRCchr162081630Missense_MutationNAL1216I0.13
KIRCchr162075856Missense_MutationnovelV868E0.25
KIRCchr162080378Splice_SitenovelX1204_splice0.3
KIRCchr162065578SilentNAY553Y0.27
KIRCchr162084518SilentNAA1432A0.4
KIRCchr162082492Missense_Mutationrs201135184V1291I0.28
KIRPchr162076138Missense_MutationNAF904L0.12
KIRPchr162061921SilentnovelT390T0.05
KIRPchr162062990SilentnovelA460A0.23
KIRPchr162088134Missense_Mutationrs201206500A1719T0.35
KIRPchr162085238Frame_Shift_InsnovelE1528*0.1
KIRPchr162072848Splice_SiteNAX741_splice0.47
KIRPchr162080344Missense_MutationNAG1193S0.28
KIRPchr162048729SilentnovelF38F0.23
KIRPchr162084693Missense_MutationnovelK1491E0.53
LGGchr162072980Missense_MutationNAK784N0.22
LGGchr162088114Missense_MutationNAA1712G0.4
LGGchr162055474Missense_MutationnovelK185R0.32
LGGchr162075815Silentrs779606786P854P0.44
LIHCchr162080278Frame_Shift_DelnovelA1171Lfs*200.14
LIHCchr162054354Frame_Shift_DelnovelN133Tfs*490.07
LIHCchr162086370Frame_Shift_DelnovelI1614Hfs*380.11
LIHCchr162086305In_Frame_DelnovelY1593_L1594del0.21
LIHCchr162072983Frame_Shift_Delnovel0.42
LIHCchr162054374Missense_MutationnovelR139W0.32
LIHCchr162088084Frame_Shift_DelnovelI1702Sfs*1230.34
LIHCchr162086834Frame_Shift_DelnovelN1651Kfs*480.44
LIHCchr162084405Nonsense_MutationNAQ1395*0.21
LIHCchr162062587Nonsense_Mutationrs45491095E450*0.76
LIHCchr162048718Nonsense_Mutationrs137854105Q35*0.22
LIHCchr162074224Nonsense_Mutationrs45517233Q794*0.45
LIHCchr162058809Nonsense_Mutationrs45517140W304*0.5
LUADchr162080193SilentnovelL1142L0.05
LUADchr162072924Missense_MutationnovelV766L0.1
LUADchr162079152Missense_MutationnovelM1029I0.19
LUADchr162065573Missense_MutationNAA552T0.06
LUADchr162064373Frame_Shift_DelnovelA516Qfs*190.53
LUADchr162054433SilentNAE158E0.12
LUADchr162065636Splice_SiteNAX572_splice0.27
LUADchr162060756Missense_MutationNAQ354H0.2
LUADchr162055463SilentnovelV181V0.15
LUADchr162055464Missense_MutationnovelN182Y0.15
LUADchr162079275Splice_Siters45443096X1044_splice0.24
LUADchr162070499Missense_MutationnovelY587C0.15
LUADchr162079039Nonsense_Mutationrs45438592Q992*0.17
LUADchr162061937Missense_MutationNAD396Y0.17
LUADchr162056211SilentnovelL205L0.61
LUADchr162071807Missense_MutationnovelK657R1
LUSCchr162065582Missense_MutationnovelA555S0.51
LUSCchr162074227Missense_MutationnovelG795S0.3
LUSCchr162079555Splice_SiteNAX1095_splice0.54
LUSCchr162056206SilentnovelL204L0.19
LUSCchr162084977Frame_Shift_DelnovelP1508Lfs*150.27
LUSCchr162081786Missense_MutationnovelR1268C0.16
LUSCchr162079609Nonsense_MutationNAE1113*0.28
LUSCchr162050412Nonsense_MutationnovelE51*0.94
LUSCchr162088267Frame_Shift_InsnovelI1735Yfs*400.09
LUSCchr162088579Missense_MutationnovelS1798C0.48
LUSCchr162076130Missense_MutationNAR901H0.25
LUSCchr162056195Splice_SiteNAX200_splice0.4
LUSCchr162083708SilentnovelV1299V0.5
LUSCchr162088230Missense_Mutationrs397515270A1722P0.08
LUSCchr162086756Missense_MutationnovelM1625T0.35
LUSCchr162061903SilentnovelV384V0.29
LUSCchr162086246Silentrs369346726T1572T0.13
LUSCchr162085246Missense_MutationnovelR1529L0.15
LUSCchr162079165Frame_Shift_DelnovelV1034Sfs*180.06
LUSCchr162076550Missense_MutationnovelR934S0.17
LUSCchr162056690Missense_Mutationrs760100924P232L0.31
MESOchr162084300Missense_Mutationrs397514997E1360K0.09
OVchr162086352Missense_MutationNAY1608D0.79
OVchr162055455Frame_Shift_InsnovelV179Gfs*160.05
OVchr162081696Missense_MutationnovelA1238P0.84
OVchr162080219Missense_MutationnovelG1151A0.69
OVchr162057108Missense_MutationNAM260V0.66
OVchr162061945Missense_MutationnovelN398K0.06
OVchr162060745Missense_MutationnovelK351Q0.46
OVchr162083670Intronnovel0.58
OVchr162056752Missense_MutationnovelC253G0.1
OVchr162074238Frame_Shift_DelnovelR799Afs*250.29
OVchr162079152Missense_MutationNAM1029I0.44
PAADchr162086296Missense_Mutationrs373635516P1589L0.37
PAADchr162062581SilentnovelL448L0.16
PAADchr162070559Missense_Mutationrs397515296A607V0.19
PAADchr162074211SilentnovelV789V0.18
PAADchr162079278Missense_MutationnovelS1045F0.19
PAADchr162080328SilentnovelV1187V0.18
PAADchr162084251Missense_MutationnovelE1343D0.3
PAADchr162086298Missense_MutationnovelD1590N0.22
PAADchr162057129Missense_MutationnovelH267N0.4
PCPGchr162081702Missense_Mutationrs137854353R1240C0.07
PRADchr162071839Missense_MutationnovelG668W0.4
PRADchr162086229Missense_MutationnovelG1567R0.51
PRADchr162076129Missense_Mutationrs796053512R901C0.37
PRADchr162060815Splice_SitenovelX373_splice0.32
READchr162060790Missense_Mutationrs45517148E366K0.09
READchr162064382SilentNAG518G0.39
READchr162071552Missense_Mutationrs45437797R628C0.12
READchr162083557Intronnovel0.4
SARCchr162081749SilentnovelV1255V0.07
SARCchr162060733Frame_Shift_DelnovelK347Rfs*160.45
SARCchr162057141Frame_Shift_DelnovelS271Rfs*660.43
SARCchr162076102Missense_Mutationrs376801256V892I0.23
SARCchr162065568Frame_Shift_DelnovelA551*0.55
SKCMchr162088455Missense_MutationNAE1757K0.26
SKCMchr162079086Silentrs201516931S1007S0.48
SKCMchr162072879Nonsense_Mutationrs45517222R751*0.35
SKCMchr162060708SilentNAI338I0.3
SKCMchr162084514Missense_Mutationrs375785710S1431L0.18
SKCMchr162061907Missense_MutationNAD386N0.64
SKCMchr162071512Splice_Regionrs201575136A614A0.6
SKCMchr162064418SilentNAI530I0.34
SKCMchr162079297SilentNAL1051L0.36
SKCMchr162088109Silentrs760978505F1710F0.15
SKCMchr1620478685'UTRNA0.5
SKCMchr162072312SilentnovelI723I0.2
SKCMchr162074230Missense_MutationNAL796F0.18
SKCMchr162081775Missense_Mutationrs762822990P1264L0.58
SKCMchr162080179Nonsense_Mutationrs45451497R1138*0.27
SKCMchr162087897Missense_Mutationrs45483392P1675L0.35
SKCMchr162081642Missense_MutationNAS1220T0.34
SKCMchr162075885Missense_Mutationrs397515077P878S0.49
SKCMchr162075886Missense_MutationnovelP878L0.49
SKCMchr162072857SilentnovelG743G0.23
SKCMchr162084434SilentnovelK1404K0.29
SKCMchr162081600Missense_MutationNAT1206A0.33
SKCMchr162056231Missense_MutationnovelS212F0.24
SKCMchr162079565Missense_Mutationrs773545852P1098L0.79
SKCMchr162056222Missense_MutationNAT209I0.34
SKCMchr162054436SilentnovelE159E0.37
SKCMchr162072931Missense_MutationNAP768L0.39
SKCMchr162083789Missense_MutationNAM1326I0.24
SKCMchr162084314SilentNAS1364S0.27
SKCMchr162065517Splice_SiteNAX534_splice0.05
SKCMchr162079312SilentNAR1056R0.64
SKCMchr162062523SilentNAS428S0.33
SKCMchr162080176Missense_MutationNAL1137F0.29
SKCMchr162048704Missense_MutationNAS30Y0.23
SKCMchr162075864Missense_MutationNAI871L0.33
SKCMchr162055448SilentNAF176F0.27
SKCMchr162055449Missense_MutationnovelL177F0.27
SKCMchr162060708SilentNAI338I0.3
SKCMchr162077661SilentNAK967K0.31
STADchr162074337Silentrs773645613T831T0.1
STADchr162056664Silentrs35501344D223D0.24
STADchr162056668Missense_Mutationrs142919353V225M0.22
STADchr162055424Missense_MutationNAM168I0.39
STADchr162084592Missense_MutationNAR1457Q0.24
STADchr162071605SilentnovelV645V0.3
STADchr162072295Missense_Mutationrs182538665R718C0.19
STADchr162070491Silentrs141285742T584T0.18
STADchr162074275Missense_MutationNAC811R0.2
STADchr162056755Missense_Mutationrs45517126E254K0.28
STADchr162081668SilentNAL1228L0.38
STADchr162086306SilentNAV1592V0.4
STADchr162080220SilentnovelG1151G0.35
STADchr162056226Silentrs567756494A210A0.28
STADchr162070493Missense_Mutationrs397515063R585H0.25
STADchr162074373SilentNAL843L0.25
STADchr162056735Missense_MutationnovelI247T0.32
STADchr162074282Missense_MutationnovelV813A0.14
STADchr162080301Silentrs201305783Q1178Q0.26
STADchr162088461Missense_Mutationrs758450326A1759T0.37
STADchr162055505Silentrs397515309I195I0.32
STADchr162060687Silentrs45517153N331N0.24
STADchr162088300Missense_Mutationrs766093661R1745H0.16
STADchr162048715Frame_Shift_DelnovelK34Nfs*120.28
STADchr162088051Missense_Mutationrs397515110M1691T0.28
STADchr162060800Missense_MutationNAL369R0.24
STADchr162064385SilentnovelC519C0.36
STADchr162077693Missense_MutationNAR978H0.31
STADchr162081647Silentrs137854268S1221S0.31
STADchr162076083SilentNAI885I0.38
THCAchr162048651SilentnovelK12K0.06
THYMchr162076080Nonsense_MutationnovelY884*0.08
UCECchr162084620Silentrs376086638S1466S0.18
UCECchr162058830Missense_MutationNAS311F0.16
UCECchr162056728Missense_Mutationrs375574283R245C0.15
UCECchr162058784Missense_Mutationrs747237113V296M0.15
UCECchr162086208Missense_Mutationrs777539610A1560T0.15
UCECchr162086820SilentnovelV1646V0.09
UCECchr162083777SilentnovelA1322A0.29
UCECchr162057168Missense_MutationnovelM280L0.62
UCECchr162064304SilentnovelQ492Q0.61
UCECchr162082491Silentrs754466663S1290S0.51
UCECchr162048663Missense_MutationnovelK16N0.34
UCECchr162084514Missense_Mutationrs375785710S1431L0.24
UCECchr162086163Splice_SitenovelX1555_splice0.27
UCECchr162065529Missense_Mutationrs372681603R537H0.31
UCECchr162061887Missense_MutationNAE379G0.27
UCECchr162054303Missense_Mutationrs764529584R115H0.23
UCECchr162065635Missense_MutationNAQ572H0.11
UCECchr162084954Silentrs372974007F1499F0.23
UCECchr162083795SilentNAR1328R0.3
UCECchr162048654Missense_Mutationrs766814650E13D0.15
UCECchr162088324Missense_Mutationrs749487441R1753Q0.26
UCECchr162058764Missense_Mutationrs755631210A289V0.47
UCECchr162060708SilentNAI338I0.08
UCECchr162081778Missense_MutationnovelP1265H0.11
UCECchr162060764Missense_Mutationrs150195368A357V0.16
UCECchr162079308Missense_MutationNAG1055D0.16
UCECchr162088117Missense_Mutationrs45517395R1713H0.2
UCECchr162053372Missense_MutationNAA86T0.26
UCECchr162058784Missense_Mutationrs747237113V296M0.26
UCECchr162076571Silentrs750806272N941N0.59
UCECchr162079165Missense_Mutationrs146745242V1034I0.41
UCECchr162079652Missense_Mutationrs746197874R1127Q0.38
UCECchr162081729Missense_MutationnovelL1249M0.3
UCECchr162085298Silentrs45517354A1546A0.35
UCECchr162072350Missense_Mutationrs764259520A736V0.23
UCECchr162070558Missense_Mutationrs45517203A607T0.52
UCECchr162056762Missense_MutationNAC256Y0.46
UCECchr162048663Missense_MutationnovelK16N0.07
UCECchr162079278Missense_MutationnovelS1045Y0.31
UCECchr162084535Missense_Mutationrs45448791R1438Q0.46
UCECchr162071534Missense_Mutationrs397514914R622W0.32
UCECchr162084379Missense_MutationnovelS1386I0.09
UCECchr162088109Silentrs760978505F1710F0.38
UCECchr162056217Frame_Shift_DelnovelT209Vfs*240.09
UCECchr162071618Splice_Siters397515247X649_splice0.41
UCECchr162075877Missense_MutationnovelY875C0.35
UCECchr162083760SilentnovelL1317L0.33
UCECchr162085253SilentnovelV1531V0.17
UCECchr162084244Missense_MutationnovelS1341N0.47
UCECchr162084514Missense_Mutationrs375785710S1431L0.31
UCECchr162083626Intronnovel0.14
UCECchr162050430Missense_MutationnovelR57C0.43
UCECchr162079415Missense_Mutationrs796053493G1091S0.26
UCECchr162084960Silentrs778332133F1501F0.39
UCECchr162048651Missense_MutationnovelK12N0.38
UCECchr162048744Missense_MutationnovelE43D0.31
UCECchr162086208Missense_Mutationrs777539610A1560T0.33
UCECchr162088461Missense_Mutationrs758450326A1759T0.4
UCECchr162084477Nonsense_Mutationrs45437193Q1419*0.26
UCECchr162055484Missense_MutationnovelS188R0.21
UCECchr162086733Splice_Regionrs556045045A1617A0.2
UCECchr162076497Missense_Mutationrs781587135R917W0.53
UCECchr162079102Missense_Mutationrs45517279D1013N0.88
UCECchr162070493Missense_Mutationrs397515063R585H0.56
UCECchr162056649SilentNAS218S0.47
UCECchr162056195Splice_Siters45517117X200_splice0.41
UCECchr162065538Frame_Shift_DelnovelP541Hfs*200.34
UCECchr162055407Frame_Shift_DelNAF163Cfs*250.24
UCECchr162053481Intronnovel0.23
UCECchr162058765Silentrs375163125A289A0.32
UCECchr162080214SilentnovelF1149F0.3
UCECchr1620886433'UTRnovel0.13
UCECchr162084573Missense_Mutationrs369553241R1451C0.47
UCECchr162072279SilentnovelR712R0.35
UCECchr162076083SilentnovelI885I0.05
UCECchr162050445Missense_MutationnovelG62W0.38
UCECchr162062986Missense_MutationnovelG459D0.64
UCECchr162079108Missense_MutationnovelL1015M0.28
UCECchr162065529Missense_Mutationrs372681603R537H0.43
UCECchr162079044Silentrs45517277T993T0.33
UCECchr162056235SilentnovelV213V0.34
UCECchr162079414Silentrs754951889S1090S0.4
UCECchr162063012Missense_MutationnovelV468M0.3
UCECchr162070453Splice_Regionnovel0.39
UCECchr162077604SilentNAR948R0.35
UCECchr162088266Missense_Mutationrs751990617D1734N0.4

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCAMP0.53330.22898
CHOLDEL0.11110.23475

Survival Analysis
CancerP-value Q-value
KIRC0.029

Kaplan-Meier Survival Analysis

MESO0.037

Kaplan-Meier Survival Analysis

HNSC0.00038

Kaplan-Meier Survival Analysis

SKCM0.0096

Kaplan-Meier Survival Analysis

PAAD0.00093

Kaplan-Meier Survival Analysis

READ0.021

Kaplan-Meier Survival Analysis

LGG0.04

Kaplan-Meier Survival Analysis

LUAD0.024

Kaplan-Meier Survival Analysis

UVM0.0012

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
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000103197 (Gene tree)
Gene ID
7249
Gene Symbol
TSC2
Alias
tuberin|LAM|PPP1R160|TSC4
Full Name
TSC complex subunit 2
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
42,023 bases
Position
chr16:2,047,465-2,089,487
Accession
12363
RBP type
non-canonical RBP
Summary
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
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 & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
24189100MTOR inhibition attenuates DNA damage and apoptosis through autophagy-mediated suppression of CREB1.Autophagy2013 DecWang Ydoi: 10.4161/auto.26447
20304964The NADPH oxidase subunit p22phox inhibits the function of the tumor suppressor protein tuberin.Am J Pathol2010 MayBlock Kdoi: 10.2353/ajpath.2010.090606
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000646674TSC2-2642710--- (aa)--
ENST00000646464TSC2-261461-ENSP0000049661065 (aa)-A0A2R8YHA2
ENST00000644665TSC2-2523604--- (aa)--
ENST00000645186TSC2-256541-ENSP00000495110180 (aa)-A0A2R8Y670
ENST00000568692TSC2-2241695--- (aa)--
ENST00000646388TSC2-2605614-ENSP000004959211805 (aa)-A0A2R8YGD6
ENST00000647234TSC2-2684228--- (aa)--
ENST00000643149TSC2-2374117--- (aa)--
ENST00000568366TSC2-221562--- (aa)--
ENST00000439117TSC2-2065073-ENSP00000406980108 (aa)-Q5HYF7
ENST00000642797TSC2-2325388XM_005255531ENSP000004938461741 (aa)XP_005255588X5D2U8
ENST00000645024TSC2-2553475--- (aa)--
ENST00000467949TSC2-211606--- (aa)--
ENST00000568238TSC2-220422--- (aa)--
ENST00000642791TSC2-2311855--- (aa)--
ENST00000643120TSC2-236792--- (aa)--
ENST00000647042TSC2-2662729--- (aa)--
ENST00000642561TSC2-2295396-ENSP000004950991760 (aa)-A0A2R8YDZ2
ENST00000563346TSC2-219703--- (aa)--
ENST00000643533TSC2-241516--- (aa)--
ENST00000497886TSC2-2163248--- (aa)--
ENST00000643426TSC2-2403123--- (aa)--
ENST00000646634TSC2-2634321--- (aa)--
ENST00000646823TSC2-2651536--- (aa)--
ENST00000432909TSC2-205408-ENSP00000387937136 (aa)-C9JX95
ENST00000644278TSC2-247649--- (aa)--
ENST00000569110TSC2-2251727-ENSP00000455817316 (aa)-H3BQK4
ENST00000643088TSC2-2355970-ENSP000004947471738 (aa)-A0A2R8Y5F1
ENST00000642812TSC2-2332320--- (aa)--
ENST00000568566TSC2-223542-ENSP0000045599730 (aa)-H3BQY7
ENST00000642936TSC2-2345507XM_011522640ENSP000004945141763 (aa)XP_011520942P49815
ENST00000644335TSC2-2495433-ENSP000004963171739 (aa)-A0A2R8YGU4
ENST00000488675TSC2-214567--- (aa)--
ENST00000439673TSC2-2075287XM_017023617ENSP000003992321704 (aa)XP_016879106P49815
ENST00000644399TSC2-2505445-ENSP000004939901781 (aa)-A0A2R8YDR3
ENST00000646557TSC2-262478--- (aa)--
ENST00000647242TSC2-2692749--- (aa)--
ENST00000569930TSC2-2263388--- (aa)--
ENST00000644417TSC2-251436-ENSP0000049391286 (aa)-A0A2R8YCR8
ENST00000645192TSC2-257209--- (aa)--
ENST00000562474TSC2-218589--- (aa)--
ENST00000644847TSC2-2541735--- (aa)--
ENST00000645591TSC2-2593488--- (aa)--
ENST00000642365TSC2-2284122XM_017023618ENSP000004954591359 (aa)XP_016879107A0A2R8Y6C9
ENST00000461648TSC2-2082793--- (aa)--
ENST00000643298TSC2-2392963-ENSP00000494393237 (aa)-A0A2R8Y5B2
ENST00000644722TSC2-253992--- (aa)--
ENST00000643177TSC2-2381181--- (aa)--
ENST00000647180TSC2-2672617--- (aa)--
ENST00000463601TSC2-2092529--- (aa)--
ENST00000463808TSC2-210842--- (aa)--
ENST00000471143TSC2-212579-ENSP0000045854132 (aa)-I3L134
ENST00000642206TSC2-227335-ENSP0000049514688 (aa)-A0A2R8Y692
ENST00000219476TSC2-2016164XM_011522636ENSP000002194761807 (aa)XP_011520938P49815
ENST00000401874TSC2-2045437-ENSP000003844681740 (aa)-P49815
ENST00000490108TSC2-215482--- (aa)--
ENST00000483020TSC2-213563-ENSP0000046031035 (aa)-I3L3B1
ENST00000643745TSC2-2422588-ENSP00000495948384 (aa)-A0A2R8YGE6
ENST00000642728TSC2-2301171--- (aa)--
ENST00000382538TSC2-2035264-ENSP000003719781692 (aa)-P49815
ENST00000644329TSC2-2485453XM_024450413ENSP000004966111769 (aa)XP_024306181A0A2R8Y7X5
ENST00000350773TSC2-2025538-ENSP000003443831784 (aa)-P49815
ENST00000644043TSC2-2445457XM_005255529ENSP000004962621764 (aa)XP_005255586P49815
ENST00000644222TSC2-2462433--- (aa)--
ENST00000644135TSC2-2452277-ENSP00000495644572 (aa)-A0A2R8YEJ8
ENST00000568454TSC2-2225429-ENSP000004544871751 (aa)-H3BMQ0
ENST00000643946TSC2-2436344-ENSP000004959271782 (aa)-A0A2R8Y7C8
ENST00000561695TSC2-217555--- (aa)--
ENST00000645552TSC2-2581706--- (aa)--
Gene Model
Click here to download ENSG00000103197's gene model file
Pathways
Pathway IDPathway NameSource
hsa04072Phospholipase D signaling pathwayKEGG
hsa04115p53 signaling pathwayKEGG
hsa04140Autophagy - animalKEGG
hsa04150mTOR signaling pathwayKEGG
hsa04151PI3K-Akt signaling pathwayKEGG
hsa04152AMPK signaling pathwayKEGG
hsa04211Longevity regulating pathwayKEGG
hsa04218Cellular senescenceKEGG
hsa04714ThermogenesisKEGG
hsa04910Insulin signaling pathwayKEGG
hsa04919Thyroid hormone signaling pathwayKEGG
hsa05163Human cytomegalovirus infectionKEGG
hsa05165Human papillomavirus infectionKEGG
hsa05168Herpes simplex virus 1 infectionKEGG
hsa05231Choline metabolism in cancerKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000103197Longevity1E-620834067
ENSG00000103197Insulin-Like Growth Factor Binding Protein 35E-623251661
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000103197rs45502703162057112GObesity-related traits23251661[NR] ng/mL increase0.03EFO_0004626
ENSG00000103197rs8050755162069186TMajor depressive disorder29317602[0.071-0.149] unit increase0.11EFO_0003761
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000103197's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001843neural tube closure-ISSProcess
GO:0005096GTPase activator activity21873635.IBAFunction
GO:0005096GTPase activator activity9045618.IDAFunction
GO:0005515protein binding9580671.9809973.10585443.12176984.12364343.12582162.15161933.16636147.17693255.18381890.18692468.19389623.20169078.20169165.20412061.20618440.21134130.24255178.25263562.27451907.IPIFunction
GO:0005634nucleus17114346.IDAComponent
GO:0005634nucleus16636147.IDAComponent
GO:0005737cytoplasm21873635.IBAComponent
GO:0005737cytoplasm9580671.16636147.IDAComponent
GO:0005737cytoplasm17114346.IDAComponent
GO:0005764lysosome25936802.IDAComponent
GO:0005794Golgi apparatus8806680.IDAComponent
GO:0005794Golgi apparatus10585443.IDAComponent
GO:0005829cytosol10585443.IDAComponent
GO:0005829cytosol-TASComponent
GO:0006469negative regulation of protein kinase activity-ISSProcess
GO:0006606protein import into nucleus-ISSProcess
GO:0006897endocytosis9045618.TASProcess
GO:0007507heart development-ISSProcess
GO:0008104protein localization-ISSProcess
GO:0008285negative regulation of cell proliferation-ISSProcess
GO:0014067negative regulation of phosphatidylinositol 3-kinase signaling-ISSProcess
GO:0014069postsynaptic density27898073.EXPComponent
GO:0014069postsynaptic density27898073.IDAComponent
GO:0016020membrane16636147.IDAComponent
GO:0016032viral process-IEAProcess
GO:0016192vesicle-mediated transport9045618.TASProcess
GO:0016239positive regulation of macroautophagy23778976.IGIProcess
GO:0019902phosphatase binding19389623.IDAFunction
GO:0030100regulation of endocytosis-ISSProcess
GO:0030178negative regulation of Wnt signaling pathway21873635.IBAProcess
GO:0031267small GTPase binding25936802.IPIFunction
GO:0032007negative regulation of TOR signaling21873635.IBAProcess
GO:0032007negative regulation of TOR signaling23778976.IGIProcess
GO:0033596TSC1-TSC2 complex21873635.IBAComponent
GO:0033596TSC1-TSC2 complex9580671.IDAComponent
GO:0042803protein homodimerization activity10585443.IPIFunction
GO:0043276anoikis23778976.IGIProcess
GO:0043491protein kinase B signaling-ISSProcess
GO:0043547positive regulation of GTPase activity-IEAProcess
GO:0046626regulation of insulin receptor signaling pathway-ISSProcess
GO:0046627negative regulation of insulin receptor signaling pathway21873635.IBAProcess
GO:0048009insulin-like growth factor receptor signaling pathway-ISSProcess
GO:0048471perinuclear region of cytoplasm8806680.IDAComponent
GO:0050918positive chemotaxis-ISSProcess
GO:0051056regulation of small GTPase mediated signal transduction-IEAProcess
GO:0051726regulation of cell cycle21873635.IBAProcess
GO:0051879Hsp90 protein binding29127155.IPIFunction
GO:0051898negative regulation of protein kinase B signaling21873635.IBAProcess
GO:0051898negative regulation of protein kinase B signaling-ISSProcess
GO:1901525negative regulation of mitophagy26735435.NASProcess
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