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
29842882Histone methyltransferase SETD2 regulates osteosarcoma cell growth and chemosensitivity by suppressing Wnt/β-catenin signaling.Biochem Biophys Res Commun2018 Jul 20Jiang Cdoi: 10.1016/j.bbrc.2018.05.176
20501857Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.Cancer Res2010 Jun 1Duns Gdoi: 10.1158/0008-5472.CAN-10-0120
24706662SETD2 mutations cooperate with chromosomal aberrations in leukemia.Cancer Discov2014 Apr-doi: 10.1158/2159-8290.CD-RW2014-042
23644518Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC.Epigenetics2013 MayIbragimova Idoi: 10.4161/epi.24552
28202515Systematic In Vivo Inactivation of Chromatin-Regulating Enzymes Identifies Setd2 as a Potent Tumor Suppressor in Lung Adenocarcinoma.Cancer Res2017 Apr 1Walter DMdoi: 10.1158/0008-5472.CAN-16-2159
28122867The Genetic Basis of Hepatosplenic T-cell Lymphoma.Cancer Discov2017 AprMcKinney Mdoi: 10.1158/2159-8290.CD-16-0330
30660076Expression and Mutation Patterns of PBRM1, BAP1 and SETD2 Mirror Specific Evolutionary Subtypes in Clear Cell Renal Cell Carcinoma.Neoplasia2019 FebBihr Sdoi: 10.1016/j.neo.2018.12.006
29522714SETD2 indicates favourable prognosis in gastric cancer and suppresses cancer cell proliferation, migration, and invasion.Biochem Biophys Res Commun2018 Apr 6Chen Zdoi: 10.1016/j.bbrc.2018.03.022
23620406Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network.Clin Cancer Res2013 Jun 15Hakimi AAdoi: 10.1158/1078-0432.CCR-12-3886
25728682SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair.Oncogene2015 Nov 12Kanu Ndoi: 10.1038/onc.2015.24
19698110The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters.BMC Cancer2009 Aug 21Al Sarakbi Wdoi: 10.1186/1471-2407-9-290.
26172293LncRNA HOTAIR promotes human liver cancer stem cell malignant growth through downregulation of SETD2.Oncotarget2015 Sep 29Li Hdoi: 10.18632/oncotarget.4443.
24158655Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects.Genome Res2014 FebSimon JMdoi: 10.1101/gr.158253.113
30093630Acquired SETD2 mutation and impaired CREB1 activation confer cisplatin resistance in metastatic non-small cell lung cancer.Oncogene2019 JanKim IKdoi: 10.1038/s41388-018-0429-3

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr347122804Frame_Shift_InsnovelK611Ifs*270.24
BLCAchr347083870SilentnovelL1970L0.36
BLCAchr347120833Missense_Mutationrs773098323S1268F0.43
BLCAchr347056910Missense_MutationnovelQ2292E0.53
BLCAchr347106018SilentNAF1606F0.27
BLCAchr347116723Nonsense_MutationNAR1496*0.08
BLCAchr347017098Missense_Mutationrs780004717E2564K0.28
BLCAchr347062226Missense_MutationNAR2077Q0.33
BLCAchr347121539Missense_Mutationrs145759179T1033A0.48
BLCAchr347057029Missense_MutationnovelS2252F0.24
BLCAchr347101474Nonsense_MutationNAQ1667*0.34
BLCAchr347057000Missense_MutationnovelP2262S0.31
BLCAchr347122472Nonsense_MutationNAQ722*0.18
BLCAchr347122957Missense_MutationnovelS560L0.16
BLCAchr347120801Missense_MutationNAG1279R0.33
BLCAchr347113876Missense_Mutationrs750924110S1572L0.04
BLCAchr347103378Missense_MutationNAH1629Y0.2
BLCAchr347120986Missense_MutationnovelW1217L0.08
BLCAchr347120881Missense_MutationNAS1252L0.11
BLCAchr347113963Missense_Mutationrs752011468R1543Q0.36
BLCAchr347121325Missense_MutationnovelE1104G0.15
BLCAchr347056958In_Frame_InsnovelS2275_N2276insDFLPYTRF0.05
BLCAchr347122697Missense_MutationNAD647N0.13
BLCAchr347101474Nonsense_MutationNAQ1667*0.28
BLCAchr347056892Missense_MutationnovelQ2298E0.16
BLCAchr347084061Missense_MutationnovelE1907Q0.13
BLCAchr347101457Splice_SiteNAX1672_splice0.34
BLCAchr347017104Missense_MutationnovelE2562K0.3
BLCAchr347122502Missense_MutationnovelK712E0.27
BLCAchr347083809Nonsense_MutationNAE1991*0.49
BLCAchr347120553Missense_MutationnovelQ1361H0.35
BLCAchr347057180Missense_Mutationrs143083979P2202A0.26
BLCAchr347116636Missense_MutationnovelL1525V0.2
BLCAchr347046622Splice_SitenovelX2322_splice0.26
BRCAchr347088181Missense_MutationNAS1737G0.37
BRCAchr347042674SilentNAL2375L0.76
BRCAchr347017702Missense_MutationNAR2490Q0.18
BRCAchr347124097Nonsense_MutationNAS180*0.16
BRCAchr347123197Missense_MutationnovelY480F0.08
BRCAchr347121533Missense_MutationnovelH1035D0.1
BRCAchr347116708Missense_MutationNAC1501R0.19
BRCAchr347017175Frame_Shift_DelNAH2538Pfs*260.25
BRCAchr347017246Frame_Shift_InsNAH2514Qfs*60.12
BRCAchr347123066Missense_MutationNAN524H0.23
BRCAchr347057429Missense_MutationNAE2119K0.22
BRCAchr347122783Nonsense_Mutationrs750437096S618*0.5
BRCAchr347122876Missense_MutationNAS587C0.45
BRCAchr347116683Missense_MutationNAR1509T0.38
BRCAchr347123254Nonsense_MutationnovelS461*0.18
BRCAchr347123422Missense_MutationnovelS405C0.09
BRCAchr347103389Missense_MutationNAR1625L0.43
BRCAchr347122264Nonsense_MutationnovelS791*0.08
BRCAchr347123624Missense_MutationnovelD338H0.1
BRCAchr347067108Missense_MutationNAR2024Q0.11
BRCAchr347120923Missense_MutationNAS1238Y0.13
BRCAchr347122192Nonsense_MutationNAS815*0.19
BRCAchr347122503SilentNAV711V0.37
BRCAchr347124326Missense_MutationNAP104S0.24
BRCAchr347121305Missense_MutationnovelH1111N0.1
BRCAchr347121804SilentNAA944A0.18
BRCAchr347120518Missense_MutationnovelS1373I0.09
BRCAchr347122900Missense_MutationNAN579S0.44
BRCAchr347101469Missense_MutationNAF1668L0.3
BRCAchr347123100SilentnovelS512S0.07
BRCAchr347062270SilentnovelE2062E0.11
CESCchr347121914SilentnovelL908L0.3
CESCchr347123383Missense_MutationnovelS418F0.44
CESCchr347056855Nonsense_MutationnovelS2310*0.5
CESCchr347056945Missense_MutationnovelV2280A0.51
CESCchr347120611Missense_MutationnovelD1342V0.33
CESCchr347042621Missense_MutationnovelP2393R0.11
CESCchr347120528Missense_MutationnovelP1370T0.77
CESCchr347113958Nonsense_MutationNAQ1545*0.73
CESCchr347056963Frame_Shift_DelnovelD2274Vfs*350.09
CESCchr347056877Missense_MutationnovelP2303S0.27
CESCchr347103408Missense_MutationnovelQ1619E0.11
CESCchr347120884Missense_MutationNAS1251L0.38
CESCchr347017702Missense_MutationNAR2490Q0.34
CESCchr347121016Missense_MutationNAS1207C0.58
CESCchr347123190SilentnovelD482D0.36
CESCchr347121222SilentnovelE1138E0.23
CESCchr347122016Missense_MutationNAI874V0.33
CESCchr347122957Missense_MutationnovelS560L0.49
CESCchr347017206Missense_MutationnovelE2528Q0.32
CHOLchr347083744Frame_Shift_InsnovelL2013Pfs*200.56
COADchr347120449Frame_Shift_DelNAN1396Mfs*160.42
COADchr347019812Missense_MutationnovelA2460V0.13
COADchr347121936Silentrs370480746C900C0.29
COADchr347121634Missense_Mutationrs200816574S1001C0.08
COADchr347056921Missense_MutationNAP2288L0.44
COADchr347123723Frame_Shift_DelNAT305Qfs*350.1
COADchr347113947SilentnovelQ1548Q0.35
COADchr347122607Missense_Mutationrs764219907P677S0.14
COADchr347123959Missense_MutationnovelP226L0.39
COADchr347101519Frame_Shift_InsNAT1652Yfs*140.26
COADchr347123723Missense_MutationnovelT305A0.25
COADchr347057138Missense_MutationnovelP2216S0.09
COADchr347019836Missense_Mutationrs775780402S2452L0.21
COADchr347123221Missense_Mutationrs201984344R472H0.43
COADchr347113875Splice_SiteNAX1572_splice0.31
COADchr347067109Nonsense_MutationNAR2024*0.37
COADchr347122312Missense_MutationNAV775G0.35
COADchr347037742Missense_MutationnovelP2425L0.26
COADchr347019805SilentNAT2462T0.43
COADchr347019835Silentrs368025625S2452S0.47
COADchr347042661Missense_MutationnovelP2380S0.23
COADchr347120633Missense_MutationNAR1335C0.26
COADchr347120417Frame_Shift_DelNAR1407Gfs*50.18
COADchr347084342Frame_Shift_DelNAN1813Ifs*250.32
COADchr347123431Missense_Mutationrs182736967R402Q0.42
COADchr347019803Missense_MutationNAS2463Y0.1
COADchr347120422Missense_MutationNAK1405T0.12
COADchr347121065Missense_MutationNAK1191Q0.13
COADchr347121702Missense_MutationNAE978D0.13
COADchr347103351Missense_MutationnovelQ1638K0.16
COADchr347106083Missense_MutationNAD1585N0.33
COADchr347123723Frame_Shift_DelNAT305Qfs*350.39
COADchr347121132SilentnovelV1168V0.4
COADchr347017164Missense_MutationNAE2542Q0.17
COADchr347083745Missense_MutationnovelL2012R0.29
COADchr347057419Missense_MutationNAR2122Q0.08
COADchr347116642Missense_MutationNAR1523C0.26
COADchr347121106Missense_MutationnovelK1177T0.06
COADchr347124224Nonsense_MutationnovelE138*0.2
COADchr347046554Missense_MutationNAV2344A0.29
COADchr347057342In_Frame_DelnovelG2145_S2148delinsA0.06
COADchr347056912Missense_MutationnovelS2291F0.14
COADchr347083742Missense_MutationnovelL2013P0.62
ESCAchr347123997SilentnovelA213A0.24
ESCAchr347057332Missense_MutationnovelP2151L0.62
ESCAchr347113875Splice_SitenovelX1572_splice0.36
GBMchr347116662Missense_MutationNAC1516Y0.37
GBMchr347057012Missense_MutationnovelP2258A0.08
GBMchr347084320SilentnovelV1820V0.09
GBMchr347017116Missense_MutationnovelK2558E0.08
GBMchr347057188Missense_MutationnovelS2199F0.56
GBMchr347121475Missense_MutationnovelT1054R0.04
GBMchr347086271Missense_MutationNAH1774R0.27
GBMchr347017643Missense_MutationNAR2510C0.32
GBMchr347042601Missense_MutationnovelD2400N0.29
GBMchr347062294Silentrs760543486P2054P0.23
GBMchr347067108Missense_MutationNAR2024Q0.09
GBMchr347120636Missense_MutationnovelD1334N0.54
GBMchr347122521Silentrs771398677S705S0.28
GBMchr347056922Missense_MutationnovelP2288S0.1
GBMchr347019782Missense_MutationnovelS2470I0.05
GBMchr347057327Missense_MutationnovelD2153N0.04
GBMchr347120210Missense_MutationnovelI1476L0.09
GBMchr347017245Missense_MutationnovelG2515S0.35
GBMchr347101543Missense_MutationnovelG1644R0.44
GBMchr347121914Missense_MutationnovelL908M0.17
GBMchr347122876Missense_MutationnovelS587Y0.26
GBMchr347105995Splice_SiteNAX1613_splice0.39
GBMchr347121686Missense_MutationnovelR984G0.06
GBMchr347017164Missense_MutationNAE2542K0.48
GBMchr347057419Missense_MutationNAR2122Q0.41
GBMchr347120472Missense_MutationnovelD1388E0.31
HNSCchr347122187Missense_MutationnovelM817L0.43
HNSCchr347037779Splice_SiteNAX2413_splice0.28
HNSCchr347122852Missense_MutationnovelS595L0.18
HNSCchr347122068Silentrs775705122I856I0.25
HNSCchr347106113Missense_MutationnovelF1575I0.34
HNSCchr347122264Nonsense_MutationnovelS791*0.35
HNSCchr347056977Missense_MutationnovelN2269K0.27
HNSCchr347120717Missense_MutationnovelD1307H0.29
HNSCchr347106028Missense_MutationNAH1603R0.23
HNSCchr347103422Splice_SitenovelX1614_splice0.35
KICHchr347042604Nonsense_MutationNAR2399*0.24
KIRCchr347120672Nonsense_MutationNAR1322*0.48
KIRCchr347084194Frame_Shift_DelnovelK1863Sfs*20.27
KIRCchr347122632Frame_Shift_DelnovelI669*0.14
KIRCchr347113970Missense_Mutationrs755382206N1541H0.5
KIRCchr347122126Missense_MutationnovelD837G0.07
KIRCchr347103390Missense_MutationNAR1625C0.47
KIRCchr347083890Nonsense_MutationNAE1964*0.17
KIRCchr347037779Splice_SiteNAX2413_splice0.25
KIRCchr347121719Nonsense_MutationNAR973*0.3
KIRCchr347122455Nonsense_MutationNAC727*0.08
KIRCchr347086246Nonsense_MutationNAW1782*0.39
KIRCchr347084315Frame_Shift_DelnovelP1822Qfs*160.27
KIRCchr347121056Frame_Shift_DelnovelI1194Yfs*420.13
KIRCchr347103378Missense_MutationNAH1629Y0.24
KIRCchr347101524Missense_MutationNAF1650S0.4
KIRCchr347123240Nonsense_MutationNAK466*0.39
KIRCchr347057413Nonsense_MutationNAL2124*0.63
KIRCchr347083770Frame_Shift_DelnovelD2004Ifs*20.14
KIRCchr347122852Frame_Shift_DelNAS595Kfs*30.35
KIRCchr347098031Nonsense_MutationnovelY1688_L1689delins*0.53
KIRCchr347088232Nonsense_MutationNAE1720*0.14
KIRCchr347084301Missense_MutationNAW1827R0.38
KIRCchr347101553Missense_MutationNAW1640C0.32
KIRCchr347120181Splice_SiteNAX1485_splice0.23
KIRCchr347122783Nonsense_Mutationrs750437096S618*0.38
KIRCchr347120534Nonsense_MutationNAQ1368*0.16
KIRCchr347120448Frame_Shift_DelnovelI1377Mfs*160.51
KIRCchr347120318Frame_Shift_DelnovelS1437Rfs*130.08
KIRCchr347124227Nonsense_MutationnovelV137*0.04
KIRCchr347017155Frame_Shift_InsnovelK2545*0.19
KIRCchr347019749Splice_SitenovelX2477_splice0.2
KIRCchr347101477Missense_MutationNAY1666H0.39
KIRCchr347042678Frame_Shift_DelNAT2372Sfs*540.42
KIRCchr347019752Splice_SitenovelX2475_splice0.24
KIRCchr347121297Nonsense_MutationNAY1113*0.38
KIRCchr347122500Frame_Shift_DelNAS708Hfs*540.29
KIRCchr347123008Nonsense_MutationNAS543*0.53
KIRCchr347056922Frame_Shift_InsnovelP2288Ifs*220.23
KIRCchr347123771Frame_Shift_DelnovelD289Mfs*120.47
KIRCchr347122307Nonsense_MutationNAE777*0.1
KIRCchr347122957Nonsense_MutationNAS560*0.26
KIRCchr347116625Missense_MutationNAE1528D0.41
KIRCchr347017657Frame_Shift_DelnovelD2504*0.21
KIRCchr347086247Nonsense_MutationNAW1782*0.07
KIRCchr347123123Nonsense_MutationNAE505*0.16
KIRCchr347017642Missense_MutationNAR2510H0.32
KIRPchr347103380Missense_MutationnovelN1628T0.57
KIRPchr347122624Frame_Shift_DelnovelL671*0.84
KIRPchr347123793Frame_Shift_DelnovelE282Ifs*180.71
KIRPchr347123900Frame_Shift_InsnovelV246Cfs*100.61
KIRPchr347086288Missense_MutationNAK1768N0.4
KIRPchr3471639315'UTRnovel0.08
KIRPchr347019786Nonsense_MutationNAK2469*0.86
KIRPchr347121359Frame_Shift_DelnovelS1093Lfs*20.88
KIRPchr347122886Frame_Shift_InsnovelQ584Tfs*60.78
KIRPchr347101557Splice_SiteNAX1640_splice0.76
KIRPchr347084152Frame_Shift_InsnovelM1877Nfs*100.79
KIRPchr347120261Frame_Shift_DelnovelP1457Dfs*240.56
KIRPchr347116707Missense_MutationNAC1501S0.56
KIRPchr347122476Frame_Shift_InsnovelF721Ifs*50.83
KIRPchr347122063Missense_MutationnovelS858T0.35
KIRPchr347037770Nonsense_MutationnovelQ2416*0.58
KIRPchr347057369Frame_Shift_DelnovelQ2139Nfs*80.75
KIRPchr347057370Silentrs776824718Q2138Q0.75
KIRPchr347121402Frame_Shift_DelnovelL1078Ffs*430.87
LAMLchr347083803Missense_MutationnovelE1993K0.05
LAMLchr347084159Missense_MutationnovelK1874M0.07
LAMLchr347083748In_Frame_InsnovelK2011delinsTQ0.5
LAMLchr347083749Frame_Shift_InsnovelK2011*0.5
LGGchr347120415Frame_Shift_DelnovelR1408Gfs*40.17
LGGchr347120398Frame_Shift_Delrs771527963E1412Vfs*190.21
LGGchr347056910Nonsense_MutationNAQ2292*0.12
LGGchr347046544Frame_Shift_InsnovelQ2347Hfs*230.5
LGGchr347106028Missense_MutationNAH1603R0.17
LGGchr347103390Missense_MutationNAR1625C0.1
LGGchr347084232Missense_Mutationrs376063996R1850C0.09
LGGchr347113904Missense_MutationNAG1563R0.33
LGGchr347120295SilentnovelP1447P0.06
LGGchr347121886Frame_Shift_InsnovelS917Kfs*180.34
LGGchr347122285Missense_MutationnovelS784Y0.11
LGGchr347062178Frame_Shift_DelnovelL2081Kfs*40.2
LGGchr347101519Missense_MutationnovelT1652P0.25
LGGchr347062277Nonsense_MutationNAS2060*0.05
LIHCchr347120180Splice_SitenovelX1485_splice0.58
LIHCchr347088127Missense_MutationnovelL1755V0.28
LIHCchr347057431Missense_MutationNAT2118I0.27
LIHCchr347042701Splice_SitenovelX2367_splice0.36
LIHCchr347056881Silentrs774810866T2301T0.28
LIHCchr347124316Missense_MutationnovelP107L0.2
LIHCchr347120376SilentnovelE1420E0.2
LIHCchr347120905Missense_Mutationrs768083138P1244L0.1
LIHCchr347046618Missense_MutationnovelY2323D0.29
LIHCchr347121858Frame_Shift_DelnovelE927Kfs*30.46
LIHCchr347121569Missense_MutationNAS1023G0.34
LIHCchr347114003Missense_MutationNAS1530T0.07
LIHCchr347123735Missense_MutationnovelS301C0.4
LIHCchr347123239Missense_MutationNAK466R0.48
LIHCchr347120260Frame_Shift_InsnovelR1459Qfs*260.29
LIHCchr347120571SilentnovelK1355K0.33
LIHCchr347113875Splice_SiteNAX1572_splice0.28
LIHCchr3470168593'UTRnovel0.38
LUADchr347056833SilentNAP2317P0.65
LUADchr347120983Missense_MutationNAQ1218P0.14
LUADchr347101474Nonsense_MutationNAQ1667*0.07
LUADchr347113969Missense_MutationNAN1541S0.28
LUADchr347120368Frame_Shift_InsnovelD1423Gfs*60.12
LUADchr347122855Frame_Shift_DelnovelT592Ifs*70.07
LUADchr347123016Frame_Shift_DelnovelR540Pfs*70.63
LUADchr347062248Nonsense_MutationNAQ2070*0.15
LUADchr347116707Missense_MutationNAC1501S0.19
LUADchr347062257Nonsense_MutationNAK2067*0.29
LUADchr347103392Missense_MutationnovelS1624C0.22
LUADchr347122073Missense_MutationNAS855C0.38
LUADchr347101519Frame_Shift_InsNAT1652Yfs*140.31
LUADchr347057029Missense_MutationnovelS2252C0.15
LUADchr347103390Missense_MutationNAR1625C0.16
LUADchr347037779Splice_SiteNAX2413_splice0.33
LUADchr347088140Missense_MutationnovelQ1750H0.09
LUADchr347120704Missense_MutationnovelG1311D0.07
LUADchr347121449Nonsense_MutationNAR1063*0.12
LUADchr347116659Missense_MutationNAG1517V0.42
LUADchr347122923Frame_Shift_InsnovelN571Kfs*100.13
LUADchr347046501Missense_MutationNAQ2362E0.59
LUADchr347121257Missense_MutationNAQ1127E0.67
LUADchr347123005Missense_MutationNAS544L0.59
LUADchr347120639Missense_MutationnovelD1333Y0.21
LUADchr347122797Frame_Shift_DelnovelS614Lfs*80.2
LUADchr347103389Missense_MutationNAR1625H0.3
LUADchr347084331Nonsense_MutationnovelE1817*0.19
LUADchr347116662Missense_MutationNAC1516F0.11
LUADchr347121971Nonsense_MutationnovelS881_G889delins*0.07
LUADchr347046539Missense_MutationNAA2349G0.21
LUADchr347120881Nonsense_MutationNAS1252*0.22
LUADchr347116657Nonsense_MutationNAE1518*0.44
LUADchr347042682Missense_MutationnovelN2373D0.39
LUADchr347056831Missense_MutationnovelP2318L0.41
LUADchr347057013SilentnovelL2257L0.23
LUADchr347057390Frame_Shift_InsnovelR2132Tfs*220.28
LUADchr347121871Frame_Shift_DelnovelK922Sfs*80.35
LUADchr347120180Splice_SitenovelX1485_splice0.29
LUADchr347017216Nonsense_MutationnovelC2524*0.31
LUADchr347120672Nonsense_MutationNAR1322*0.26
LUADchr347120300Missense_MutationNAG1446W0.48
LUADchr347057422Missense_MutationnovelR2121L0.09
LUADchr347057483Frame_Shift_DelnovelD2100Tfs*40.18
LUADchr347120985Nonsense_MutationNAW1217*0.25
LUADchr347116735Nonsense_MutationNAR1492*0.43
LUADchr347120186Nonsense_MutationNAE1484*0.17
LUADchr347084161Frame_Shift_DelnovelK1874Rfs*30.15
LUADchr347113987Frame_Shift_DelnovelN1535Wfs*70.16
LUSCchr347084240Missense_MutationnovelN1847S0.49
LUSCchr347083734Missense_MutationNAW2016R0.39
LUSCchr347121267SilentnovelK1123K0.3
LUSCchr347056980Missense_MutationnovelQ2268H0.14
LUSCchr347088124Nonsense_MutationNAE1756*0.33
LUSCchr347120731Missense_MutationnovelG1302D0.19
LUSCchr347103389Missense_MutationNAR1625H0.8
LUSCchr347123254Nonsense_MutationnovelS461*0.44
LUSCchr347098041SilentnovelR1686R0.07
LUSCchr347116713Missense_MutationnovelC1499F0.78
LUSCchr347037749Frame_Shift_DelnovelE2423Kfs*270.3
LUSCchr347083845Missense_MutationnovelP1979A0.65
LUSCchr347042691Missense_MutationNAV2370F0.78
LUSCchr347088113Missense_MutationnovelQ1759H0.47
LUSCchr347106055Missense_MutationnovelK1594R0.91
LUSCchr347088124Nonsense_MutationNAE1756*0.4
MESOchr347088132Frame_Shift_InsnovelT1753Nfs*360.73
MESOchr347120884Nonsense_MutationnovelS1251*0.26
MESOchr347121667Missense_MutationnovelV990G0.27
MESOchr347057360Nonsense_MutationnovelQ2142*0.34
MESOchr347120777Nonsense_MutationnovelQ1287*0.21
MESOchr347057069Nonsense_MutationnovelQ2239*0.82
MESOchr347101507Missense_MutationnovelV1656F0.15
OVchr347084381Missense_MutationNAI1800N0.27
OVchr347121646Frame_Shift_DelnovelE997Sfs*70.06
OVchr347056826Missense_MutationnovelV2320L0.17
OVchr347121689Nonsense_MutationNAE983*0.21
OVchr347084050Missense_MutationnovelD1910E0.06
OVchr347017186Missense_MutationnovelE2534D0.28
OVchr347098001Missense_MutationNAA1699V0.45
OVchr347121689Frame_Shift_DelnovelE983Kfs*230.1
OVchr347101497Missense_MutationNAG1659V0.36
OVchr347057256Nonsense_MutationNAY2176*0.48
OVchr347057195Missense_MutationNAV2197L0.13
OVchr347124027SilentnovelS203S0.11
PAADchr347084144Missense_MutationnovelR1879H0.04
PCPGchr347062346Missense_MutationnovelT2037R0.38
PCPGchr347116671Missense_MutationnovelE1513V0.05
PRADchr347042655Frame_Shift_InsnovelS2382Lfs*470.23
PRADchr347120390Nonsense_MutationnovelE1416*0.3
PRADchr347083784Missense_MutationnovelP1999R0.38
PRADchr347086227Frame_Shift_DelnovelD1788Pfs*40.4
PRADchr347062338Nonsense_MutationNAR2040*0.05
PRADchr347103418Missense_MutationnovelI1615M0.05
PRADchr347121964Missense_MutationNAK891M0.14
PRADchr347084144Missense_MutationnovelR1879H0.41
READchr347121414Missense_Mutationrs757432733K1074N0.29
READchr347123981Missense_MutationNAI219L0.2
READchr347122960Missense_MutationnovelL559P0.06
READchr347084280Missense_Mutationrs760392790V1834I0.36
READchr347124247Missense_Mutationrs550723354S130Y0.29
READchr347017130Frame_Shift_InsnovelA2553Gfs*100.25
READchr347121359Missense_MutationNAS1093R0.24
READchr347088157Missense_MutationnovelI1745V0.43
READchr347057458Missense_MutationNAR2109Q0.43
READchr347116641Missense_MutationnovelR1523H0.4
READchr347120474Missense_Mutationrs779295786D1388Y0.38
READchr347123087Nonsense_MutationNAE517*0.4
READchr347088232Missense_MutationnovelE1720K0.08
READchr347120954Missense_MutationNAS1228G0.18
READchr347124478Missense_Mutationrs745499104R53Q0.08
SARCchr347123269Missense_Mutationrs777476264R456Q0.33
SARCchr347120559SilentnovelS1359S0.38
SKCMchr347122367Nonsense_MutationNAQ757*0.31
SKCMchr347120633Missense_MutationNAR1335C0.3
SKCMchr347042661Missense_MutationNAP2380A0.25
SKCMchr347120830Missense_MutationNAT1269I0.31
SKCMchr347083872SilentNAL1970L0.23
SKCMchr347121019Missense_MutationNAS1206F0.44
SKCMchr347120821Missense_MutationNAQ1272P0.12
SKCMchr347101531Missense_MutationnovelV1648F0.23
SKCMchr347121400Missense_Mutationrs778145277P1079L0.34
SKCMchr347057036Nonsense_MutationNAQ2250*0.47
SKCMchr347084133Missense_MutationnovelI1883F0.27
SKCMchr347123108Missense_MutationnovelY510H0.3
SKCMchr347106080Missense_MutationNAH1586Y0.13
SKCMchr347121986Nonsense_MutationNAQ884*0.19
SKCMchr347017209Missense_MutationNAP2527S0.42
SKCMchr347116735Nonsense_MutationNAR1492*0.38
SKCMchr347120592Missense_MutationnovelH1348Q0.32
SKCMchr347083844Missense_MutationNAP1979L0.23
SKCMchr347042604Nonsense_MutationNAR2399*0.36
SKCMchr347088201Missense_MutationNAS1730F0.09
SKCMchr347122361Missense_Mutationrs200479097K759E0.37
SKCMchr347103378Missense_MutationNAH1629Y0.15
SKCMchr347122816Missense_MutationnovelP607L0.38
SKCMchr347122890SilentNAI582I0.7
SKCMchr347113973Missense_MutationNAS1540P0.23
STADchr347097960Missense_MutationNAD1713Y0.35
STADchr347121937Missense_MutationNAC900Y0.43
STADchr347042656Frame_Shift_DelNAS2382Lfs*290.18
STADchr347120755Missense_MutationNAG1294D0.2
STADchr347120416Frame_Shift_InsnovelR1407Kfs*80.33
STADchr347057340SilentNAS2148S0.11
STADchr347062264Frame_Shift_Insrs749901643D2064Efs*840.42
STADchr347057390Missense_Mutationrs769623377R2132W0.13
STADchr347084379Missense_MutationNAI1801V0.24
STADchr347123017Missense_Mutationrs371758386R540Q0.34
STADchr347062226Missense_MutationNAR2077Q0.16
STADchr347084234Missense_MutationNAS1849L0.43
STADchr347121187Missense_MutationnovelR1150I0.1
STADchr347062176Frame_Shift_DelNAR2094Gfs*530.16
STADchr347084294Missense_MutationnovelQ1829P0.41
STADchr347046508SilentnovelG2359G0.41
STADchr347122975Missense_Mutationrs375514539R554H0.08
STADchr347101456Splice_SiteNAX1672_splice0.24
STADchr347106061Missense_MutationNAR1592Q0.26
STADchr347113969Missense_MutationNAN1541S0.29
STADchr347086203Nonsense_MutationnovelQ1797*0.29
STADchr347121469Missense_Mutationrs776300341S1056L0.27
STADchr347057304Silentrs368137896P2160P0.15
STADchr347057033Missense_MutationNAD2251H0.26
STADchr347101519Frame_Shift_InsNAT1652Yfs*140.36
STADchr347120417Frame_Shift_DelNAR1407Gfs*50.23
STADchr347122782SilentNAS618S0.13
STADchr347120417Frame_Shift_DelNAR1407Gfs*50.25
THCAchr347121222Missense_MutationNAE1138D0.05
THCAchr347057142Frame_Shift_DelnovelE2215Nfs*330.1
THYMchr347101470Missense_MutationnovelF1668S0.39
UCECchr347057209Missense_MutationNAP2192H0.49
UCECchr347120786Missense_MutationnovelH1284N0.25
UCECchr347122633Missense_MutationNAP668L0.38
UCECchr347019835Silentrs368025625S2452S0.33
UCECchr347084234Missense_MutationNAS1849L0.33
UCECchr347122085Nonsense_MutationNAE851*0.31
UCECchr347057458Missense_MutationNAR2109Q0.28
UCECchr347067080Frame_Shift_InsnovelE2034Gfs*60.32
UCECchr347086315Splice_SiteNAX1760_splice0.37
UCECchr3470165183'Flanknovel0.15
UCECchr347120232Missense_MutationnovelK1468N0.33
UCECchr347122898Nonsense_MutationNAE580*0.23
UCECchr347121144Missense_MutationnovelQ1164H0.47
UCECchr347056938SilentNAV2282V0.19
UCECchr347062237Missense_MutationnovelE2073D0.05
UCECchr347120671Missense_Mutationrs147170912R1322Q0.06
UCECchr347120910Missense_MutationNAE1242D0.51
UCECchr347123341Missense_Mutationrs762208680R432H0.49
UCECchr347084117Missense_MutationnovelS1888N0.11
UCECchr347123018Nonsense_Mutationrs201756643R540*0.32
UCECchr347123119Missense_MutationnovelR506I0.26
UCECchr347123600Nonsense_MutationnovelE346*0.2
UCECchr347121704Nonsense_MutationnovelE978*0.08
UCECchr347084087Missense_MutationnovelS1898N0.07
UCECchr347121228SilentNAG1136G0.44
UCECchr347122721Missense_Mutationrs761234986E639K0.45
UCECchr347124300SilentnovelS112S0.07
UCECchr347056970Missense_MutationnovelV2272I0.2
UCECchr347122382SilentnovelL752L0.42
UCECchr3470169513'UTRnovel0.25
UCECchr347121857Nonsense_MutationnovelE927*0.24
UCECchr347046533Missense_MutationnovelA2351E0.11
UCECchr347067108Missense_MutationNAR2024Q0.39
UCECchr347086275Missense_Mutationrs758473163R1773C0.5
UCECchr347120204Nonsense_MutationNAE1478*0.28
UCECchr347097969Missense_MutationNAR1710C0.35
UCECchr347121414Missense_Mutationrs757432733K1074N0.26
UCECchr347017221Missense_MutationNAY2523H0.14
UCECchr347120781Missense_MutationnovelK1285N0.07
UCECchr347123462Nonsense_MutationnovelS391_S392insK*EVSVLQ0.11
UCECchr347123462Frame_Shift_InsnovelS392Lfs*1010.09
UCECchr347017687Missense_MutationNAK2495T0.23
UCECchr347106006Missense_MutationNAK1610N0.19
UCECchr347120204Nonsense_MutationNAE1478*0.24
UCECchr347123067Missense_MutationNAE523D0.31
UCECchr347123810Missense_MutationnovelD276N0.07
UCECchr347120456Missense_MutationnovelE1394Q0.48
UCECchr347062226Missense_MutationNAR2077Q0.32
UCECchr347113912Missense_MutationNAK1560R0.29
UCECchr347042676Missense_MutationnovelL2375I0.21
UCECchr347123455Missense_MutationnovelC394Y0.28
UCECchr347121123SilentnovelT1171T0.43
UCECchr347086300Missense_MutationnovelQ1764H0.28
UCECchr347122601Missense_MutationnovelA679T0.3
UCECchr347019836Missense_Mutationrs775780402S2452L0.5
UCECchr347103360Missense_MutationnovelC1635R0.44
UCECchr347123723Frame_Shift_DelNAT305Qfs*350.53
UCECchr347123485Missense_MutationnovelE384V0.13
UCECchr347123486Frame_Shift_InsnovelE384Pfs*150.13
UCECchr3470164503'Flanknovel0.24
UCECchr347017111SilentnovelE2559E0.42
UCECchr347121414Missense_Mutationrs757432733K1074N0.44
UCECchr347123170Missense_MutationnovelS489Y0.31
UCECchr3470164583'Flanknovel0.12
UCECchr347067098Missense_MutationnovelK2027N0.34
UCECchr347123017Missense_Mutationrs371758386R540Q0.24
UCECchr347124478Missense_Mutationrs745499104R53Q0.16
UCECchr3470168603'UTRnovel0.45
UCECchr347056879Missense_MutationnovelC2302Y0.21
UCECchr347098074Missense_MutationnovelA1675T0.43
UCECchr347121360Silentrs114327122Q1092Q0.22
UCECchr347123303Missense_MutationnovelR445C0.3
UCECchr347123305Missense_MutationnovelT444M0.32
UCECchr3470167993'UTRnovel0.32
UCECchr347084233Silentrs750812600S1849S0.39
UCECchr347106083Missense_MutationNAD1585N0.26
UCECchr347121307Missense_MutationnovelR1110K0.29
UCECchr347121468Silentrs768944836S1056S0.31
UCECchr347116722Missense_MutationNAR1496Q0.16
UCECchr347057446Missense_MutationnovelR2113H0.41
UCECchr347122628Nonsense_MutationnovelE670*0.38
UCECchr347122822Missense_MutationnovelK605T0.07
UCECchr347067108Missense_MutationNAR2024P0.36
UCECchr347084322Missense_MutationnovelV1820L0.1
UCECchr347080863Intronnovel0.27
UCECchr3470164973'Flanknovel0.39
UCECchr347123243Missense_MutationnovelY465H0.15
UCECchr347017113Nonsense_MutationnovelE2559*0.51
UCECchr347042654Missense_MutationnovelS2382Y0.56
UCECchr347062179Missense_MutationnovelK2093Q0.56
UCECchr347123533Missense_MutationnovelR368Q0.26
UCECchr347123723Frame_Shift_DelNAT305Qfs*350.34
UCECchr347019805SilentNAT2462T0.11
UCECchr3470164383'Flanknovel0.34
UCECchr347121857Nonsense_MutationnovelE927*0.43
UCECchr347123050Missense_MutationNAR529I0.33
UCECchr3470167963'UTRnovel0.26
UCECchr347017178Missense_MutationnovelK2537R0.29
UCECchr347042576Missense_MutationnovelY2408C0.09
UCECchr347106050Missense_MutationnovelY1596H0.33
UCECchr347121354Silentrs774952312Y1094Y0.41
UCECchr347120633Missense_MutationNAR1335C0.41
UCECchr347120449Frame_Shift_DelNAN1396Mfs*160.34
UCECchr347124279In_Frame_InsnovelE119delinsDSGTII0.07
UCECchr347057458Missense_MutationNAR2109Q0.2
UCECchr347121083Missense_MutationnovelN1185H0.23
UCECchr347124066Silentrs752167577P190P0.1
UCECchr347101504Missense_MutationNAP1657S0.03
UCECchr347122059SilentnovelT859T0.62
UCECchr347042656Frame_Shift_DelNAS2382Lfs*290.4
UCECchr3470167723'UTRnovel0.36
UCECchr347062226Missense_MutationNAR2077Q0.3
UCECchr347086227Missense_Mutationrs759310174G1789S0.29
UCECchr347121469Missense_Mutationrs776300341S1056L0.42
UCECchr347124300SilentnovelS112S0.39
UCECchr347017672Missense_MutationnovelT2500I0.27
UCECchr347057188Missense_MutationnovelS2199Y0.34
UCECchr347121113Missense_MutationnovelD1175Y0.34
UCECchr347123533Missense_MutationnovelR368Q0.36
UCECchr347067109Nonsense_MutationNAR2024*0.33
UCECchr347084158SilentnovelK1874K0.44
UCECchr347121442Missense_Mutationrs745925708R1065H0.33
UCECchr347084303Missense_MutationNAR1826H0.29
UCECchr347106043Missense_MutationnovelR1598Q0.05
UCECchr347120456Nonsense_MutationNAE1394*0.23
UCECchr347121359Missense_MutationNAS1093R0.05
UCECchr347123087Nonsense_MutationNAE517*0.36
UCECchr3470164383'Flanknovel0.18
UCECchr347017211Missense_MutationnovelN2526T0.17
UCECchr347017654Missense_MutationnovelK2506T0.11
UCECchr347084158Missense_MutationnovelK1874N0.32
UCECchr347123142Missense_MutationnovelE498D0.15
UCECchr347017675Missense_MutationnovelI2499T0.25
UCECchr347084303Missense_MutationNAR1826H0.24
UCECchr347086288Missense_MutationNAK1768N0.12
UCECchr347120417Frame_Shift_DelNAR1407Gfs*50.38
UCECchr347084303Missense_MutationNAR1826H0.38
UCECchr347121529Missense_MutationNAE1036A0.13
UCECchr347086274Missense_Mutationrs750518294R1773H0.48
UCECchr347083862Missense_MutationnovelP1973H0.36
UCECchr347124210Frame_Shift_InsnovelH143Ffs*100.04
UCECchr347116701Missense_MutationNAP1503L0.29
UCECchr347101520Frame_Shift_Delrs759274882F1651Lfs*120.26
UCECchr347083761Missense_MutationNAD2007Y0.45
UCECchr347122721Missense_Mutationrs761234986E639K0.4
UCECchr347120459Missense_MutationNAL1393V0.4
UCECchr347122042Missense_MutationNAN865S0.25
UCECchr347122521Silentrs771398677S705S0.33
UCECchr347106083Missense_MutationNAD1585N0.28
UCECchr347122268Missense_MutationnovelD790Y0.38
UCECchr347126662Nonsense_MutationnovelE25*0.25
UCECchr347046580SilentnovelQ2335Q0.15
UCECchr347116641Missense_MutationnovelR1523H0.19
UCECchr347121168SilentnovelR1156R0.2
UCECchr347123159Missense_Mutationrs778693117R493W0.16
UCECchr347037771SilentNAT2415T0.33
UCECchr347042679Missense_MutationnovelN2374H0.47
UCECchr347116748SilentNAK1487K0.42
UCECchr347122307Nonsense_MutationNAE777*0.28
UCECchr347122253Missense_MutationnovelC795R0.36
UCECchr347121169Missense_Mutationrs752223546R1156H0.34
UCECchr347121582Silentrs192593730A1018A0.07
UCECchr347080876Intronrs7722333060.33
UCECchr347122800SilentNAA612A0.4
UCECchr347057458Missense_MutationNAR2109Q0.38
UCECchr347084303Missense_MutationNAR1826H0.52
UCECchr347106043Missense_MutationnovelR1598Q0.49
UCECchr347120717Missense_MutationnovelD1307N0.35
UCECchr347123269Missense_Mutationrs777476264R456Q0.38
UCECchr347123570Missense_MutationnovelA356T0.37
UCECchr347080976Intronnovel0.27
UCECchr347103373SilentnovelS1630S0.35
UCECchr347123005Missense_MutationNAS544L0.26
UCECchr347123338Missense_Mutationrs764693453R433H0.32
UCSchr347062337Missense_MutationnovelR2040Q0.32
UVMchr347062338Nonsense_MutationNAR2040*0.43

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CHOLDEL0.80560.02241
DLBCDEL0.14580.016959
GBMDEL0.08490.056565
LGGDEL0.08770.00089193
LUADDEL0.33910.0021265
PAADDEL0.19020.030662
SARCDEL0.20620.0034746
SKCMDEL0.16080.13887
TGCTDEL0.20.08422
THYMDEL0.09760.037527

Survival Analysis
CancerP-value Q-value
THYM0.026

Kaplan-Meier Survival Analysis

KIRC0.00038

Kaplan-Meier Survival Analysis

SARC0.012

Kaplan-Meier Survival Analysis

MESO0.02

Kaplan-Meier Survival Analysis

ACC0.016

Kaplan-Meier Survival Analysis

SKCM0.0085

Kaplan-Meier Survival Analysis

KIRP0.044

Kaplan-Meier Survival Analysis

READ0.0064

Kaplan-Meier Survival Analysis

KICH0.017

Kaplan-Meier Survival Analysis

GBM0.039

Kaplan-Meier Survival Analysis

LIHC0.015

Kaplan-Meier Survival Analysis

LGG0.0007

Kaplan-Meier Survival Analysis

CHOL0.033

Kaplan-Meier Survival Analysis

LUAD0.015

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
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000181555 (Gene tree)
Gene ID
29072
Gene Symbol
SETD2
Alias
HYPB|HIF-1|KIAA1732|FLJ23184|KMT3A
Full Name
SET domain containing 2, histone lysine methyltransferase
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Minus strand
Length
147,570 bases
Position
chr3:47,016,408-47,163,977
Accession
18420
RBP type
non-canonical RBP
Summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 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
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & MCF72018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
28483910RNA Binding by Histone Methyltransferases Set1 and Set2.Mol Cell Biol2017 Jun 29Sayou Cdoi: 10.1128/MCB.00165-17
30487242Integrated Genomic and Proteomic Analyses Reveal Novel Mechanisms of the Methyltransferase SETD2 in Renal Cell Carcinoma Development.Mol Cell Proteomics2019 MarLi Ldoi: 10.1074/mcp.RA118.000957
19711185High-resolution protein structure determination starting with a global fold calculated from exact solutions to the RDC equations.J Biomol NMR2009 NovZeng Jdoi: 10.1007/s10858-009-9366-3
18923077Histone H3 K36 methylation is mediated by a trans-histone methylation pathway involving an interaction between Set2 and histone H4.Genes Dev2008 Oct 15Du HNdoi: 10.1101/gad.1700008.
28304334KDM2 Family Members are Regulated by HIF-1 in Hypoxia.Cells2017 Mar 17Batie Mdoi: 10.3390/cells6010008.
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Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000638947SETD2-2091984-ENSP00000491413591 (aa)-A0A1W2PPX9
ENST00000409792SETD2-2028142XM_011533632ENSP000003867592564 (aa)XP_011531934Q9BYW2
ENST00000492397SETD2-208746--- (aa)--
ENST00000484689SETD2-207561--- (aa)--
ENST00000330022SETD2-2018172-ENSP000003324151365 (aa)-H7BXT4
ENST00000412450SETD2-2034231-ENSP000004164011340 (aa)-C9JG86
ENST00000479832SETD2-206794--- (aa)--
ENST00000431180SETD2-2047555-ENSP000003883491290 (aa)-H7BZ93
ENST00000445387SETD2-2057075-ENSP000004119011675 (aa)-H7C3H4
Gene Model
Click here to download ENSG00000181555's gene model file
Pathways
Pathway IDPathway NameSource
hsa00310Lysine degradationKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000181555Child Development Disorders, Pervasive3.5861800E-005-
ENSG00000181555Cholesterol, HDL4E-924097068
ENSG00000181555Bronchodilator Agents3E-626634245
ENSG00000181555Lung Volume Measurements3E-626634245
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000181555rs13063578347046347AMonocyte count27863252[0.019-0.033] unit increase0.02587866EFO_0005091
ENSG00000181555rs151074357347034978CPost bronchodilator FEV1/FVC ratio26634245unit increase0.24GO_0097366|EFO_0004713
ENSG00000181555rs2290547347019693AHDL cholesterol24097068[NR] unit decrease0.03EFO_0004612
ENSG00000181555rs17784127347020210THighest math class taken (MTAG)30038396[0.007-0.0136] unit increase0.0103EFO_0004875
ENSG00000181555rs543811905347029484CAGranulocyte percentage of myeloid white cells27863252[0.031-0.05] unit increase0.04058472EFO_0007997
ENSG00000181555rs13063578347046347ALymphocyte counts27863252[0.048-0.062] unit increase0.0547414EFO_0004587
ENSG00000181555rs13063578347046347ALymphocyte percentage of white cells27863252[0.024-0.039] unit increase0.03160705EFO_0007993
ENSG00000181555rs13063578347046347AWhite blood cell count (basophil)27863252[0.014-0.028] unit increase0.02122998EFO_0005090
ENSG00000181555rs543811905347029484CAPlatelet distribution width27863252[0.036-0.055] unit increase0.04532362EFO_0007984
ENSG00000181555rs13063578347046347AWhite blood cell count27863252[0.026-0.04] unit increase0.032872EFO_0004308
ENSG00000181555rs543811905347029484CAMonocyte percentage of white cells27863252[0.021-0.04] unit decrease0.0304442EFO_0007989
ENSG00000181555rs111675602347118447CMacrophage inflammatory protein 1b levels27989323[0.2-0.31] SD units decrease0.2548EFO_0008219
ENSG00000181555rs2290547347019693AHDL cholesterol levels28334899[0.021-0.039] unit decrease (EA Beta values)0.0297EFO_0004612
ENSG00000181555rs12631730347088413?Reaction time29844566[0.0049-0.0118] unit increase0.0083757EFO_0008393
ENSG00000181555rs114151323347142565?White blood cell count