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  • Basic Information
  • Cancer Related Information

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000197386 (Gene tree)
Gene ID
3064
Gene Symbol
HTT
Alias
IT15|HD
Full Name
huntingtin
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
202,539 bases
Position
chr4:3,041,422-3,243,960
Accession
4851
RBP type
non-canonical RBP
Summary
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
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
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000513326HTT-211373--- (aa)--
ENST00000510626HTT-20814438--- (aa)--
ENST00000649900HTT-218587--- (aa)--
ENST00000513806HTT-213432--- (aa)--
ENST00000650588HTT-219503-ENSP0000049784475 (aa)--
ENST00000509751HTT-207723--- (aa)--
ENST00000649131HTT-217289-ENSP0000049742497 (aa)--
ENST00000649009HTT-216195-ENSP0000049796765 (aa)--
ENST00000506137HTT-203781--- (aa)--
ENST00000509618HTT-206429-ENSP00000425743112 (aa)-H0YA07
ENST00000509043HTT-205380--- (aa)--
ENST00000512068HTT-209401--- (aa)--
ENST00000648150HTT-215331--- (aa)--
ENST00000355072HTT-20113475-ENSP000003471843142 (aa)-P42858
ENST00000647962HTT-2141324--- (aa)--
ENST00000508321HTT-204386--- (aa)--
ENST00000502820HTT-202524-ENSP00000498059175 (aa)--
ENST00000512909HTT-210611--- (aa)--
ENST00000650595HTT-220390-ENSP0000049799475 (aa)--
ENST00000513639HTT-212259--- (aa)--
Gene Model
Click here to download ENSG00000197386's gene model file
Pathways
Pathway IDPathway NameSource
hsa05016Huntington diseaseKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000197386Prostatic Neoplasms6.2460000E-00518264096
ENSG00000197386Cholesterol, HDL8.7540000E-005-
ENSG00000197386Platelet Function Tests1.2864800E-005-
ENSG00000197386Eyebrows1E-2227182965
ENSG00000197386Sulfates3E-727412988
ENSG00000197386Longevity2E-627015805
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000197386rs36227243233253?Serum sulfate level27412988NR unit decrease0.02EFO_0007864
ENSG00000197386rs682888243164469?Monobrow27182965[0.071-0.048] unit decrease0.059EFO_0007906
ENSG00000197386rs5596202543110382?Parental longevity (mother's age at death)27015805[0.015-0.036] unit decrease0.02542EFO_0007796
ENSG00000197386rs36309643178294TEducational attainment (MTAG)30038396[0.01-0.016] unit decrease0.013EFO_0004784
ENSG00000197386rs11392889643138682THighest math class taken (MTAG)30038396[0.01-0.02] unit increase0.015EFO_0004875
ENSG00000197386rs14910976743228684AGAGHepatocyte growth factor levels27989323[0.084-0.213] SD units decrease0.1483EFO_0006903
ENSG00000197386rs7677808043114605TItch intensity from mosquito bite adjusted by bite size28199695[0.094-0.242] unit increase0.167963EFO_0008377|EFO_0008378
ENSG00000197386rs36230743240118?General cognitive ability29844566z-score decrease5.016EFO_0004337
ENSG00000197386rs36230743240118TWorry too long after an embarrassing experience29500382z score decrease6.13EFO_0009589
ENSG00000197386rs36309643178294TEducational attainment (years of education)30038396[0.012-0.017] unit decrease0.0143EFO_0004784
ENSG00000197386rs36230743240118TEducational attainment (years of education)30038396[0.017-0.028] unit decrease0.0226EFO_0004784
ENSG00000197386rs36309643178294?Educational attainment (years of education)30595370EFO_0004784
ENSG00000197386rs36230743240118TAutomobile speeding propensity30643258[0.024-0.04] unit decrease0.03203624EFO_0008579
ENSG00000197386rs5596202543110382?Waist-hip ratio30595370EFO_0004343
ENSG00000197386rs685598143146549?White blood cell count30595370EFO_0004308
ENSG00000197386rs768568643205415ADepression30718901[1.013-1.022]1.017EFO_0003761
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000197386's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000132establishment of mitotic spindle orientation20696378.IMPProcess
GO:0002039p53 binding10823891.IPIFunction
GO:0005515protein binding7477378.9285789.9668110.9798945.10823891.12873381.15383276.15603740.15654337.16115810.17161366.17500595.17548833.17947297.18192679.18615096.19240112.19498170.20417604.20515468.22119730.22835334.23275563.23303669.24705354.25686248.26198635.28445460.29466333.IPIFunction
GO:0005522profilin binding18573880.IPIFunction
GO:0005634nucleus12783847.15654337.17704510.IDAComponent
GO:0005634nucleus17947297.IMPComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005737cytoplasm7748555.15064418.15654337.IDAComponent
GO:0005737cytoplasm17947297.IMPComponent
GO:0005770late endosome17704510.IDAComponent
GO:0005776autophagosome17704510.IDAComponent
GO:0005783endoplasmic reticulum17704510.IDAComponent
GO:0005794Golgi apparatus15837803.IDAComponent
GO:0005814centriole21985783.IDAComponent
GO:0005829cytosol20515468.IDAComponent
GO:0006890retrograde vesicle-mediated transport, Golgi to ER20515468.IMPProcess
GO:0006915apoptotic process-IEAProcess
GO:0007030Golgi organization20515468.IMPProcess
GO:0016234inclusion body17947297.IMPComponent
GO:0019900kinase binding25686248.IPIFunction
GO:0030424axon7748555.IDAComponent
GO:0030425dendrite7748555.IDAComponent
GO:0030659cytoplasmic vesicle membrane7748555.IDAComponent
GO:0031072heat shock protein binding21909508.IPIFunction
GO:0031587positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity12873381.IDAProcess
GO:0031648protein destabilization17947297.IMPProcess
GO:0032991protein-containing complex18922795.IDAComponent
GO:0032991protein-containing complex17947297.IMPComponent
GO:0034452dynactin binding18922795.IPIFunction
GO:0042297vocal learning26436900.IMPProcess
GO:0042802identical protein binding19487684.22119730.23275563.25848931.IPIFunction
GO:0043065positive regulation of apoptotic process17947297.IDAProcess
GO:0043666regulation of phosphoprotein phosphatase activity21562226.IMPProcess
GO:0044325ion channel binding12873381.IDAFunction
GO:0045505dynein intermediate chain binding20515468.IDAFunction
GO:0045724positive regulation of cilium assembly21985783.IMPProcess
GO:0047496vesicle transport along microtubule20515468.IMPProcess
GO:0048471perinuclear region of cytoplasm17947297.IMPComponent
GO:0048471perinuclear region of cytoplasm-ISSComponent
GO:0048487beta-tubulin binding11870213.IDAFunction
GO:0099523presynaptic cytosol7748555.IDAComponent
GO:0099524postsynaptic cytosol7748555.IDAComponent
GO:1903599positive regulation of autophagy of mitochondrion25686248.IMPProcess
GO:1904504positive regulation of lipophagy25686248.IMPProcess
GO:1905289regulation of CAMKK-AMPK signaling cascade21768291.IMPProcess
GO:1905337positive regulation of aggrephagy25686248.IMPProcess
GO:2000479regulation of cAMP-dependent protein kinase activity21768291.IMPProcess
GO:2001237negative regulation of extrinsic apoptotic signaling pathway19240112.IMPProcess

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
26293574Unraveling the Role of Huntingtin in Breast Cancer Metastasis.J Natl Cancer Inst2015 Aug 20Thion MSdoi: 10.1093/jnci/djv208
21454471Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.J Biol Chem2011 Jul 15Zucchelli Sdoi: 10.1074/jbc.M110.187591
26980106CAG repeat size in Huntingtin alleles is associated with cancer prognosis.Eur J Hum Genet2016 AugThion MSdoi: 10.1038/ejhg.2016.13

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr43135951Missense_MutationnovelA894V0.29
ACCchr43238954Missense_MutationnovelS3064F0.46
BLCAchr43240007Missense_MutationNAY3126C0.25
BLCAchr43206558SilentnovelL1927L0.48
BLCAchr43173024SilentnovelG1353G0.48
BLCAchr43211987Missense_MutationnovelG2158D0.06
BLCAchr43212603Missense_Mutationrs375059996R2223Q0.07
BLCAchr43235762SilentNAL2923L0.23
BLCAchr43116182SilentnovelV329V0.15
BLCAchr43235348Missense_MutationNAE2841Q0.06
BLCAchr43148049Missense_MutationnovelE1114K0.16
BLCAchr43206831Nonsense_MutationnovelQ1975*0.07
BLCAchr43209904SilentnovelV2123V0.47
BLCAchr43206561SilentNAI1928I0.16
BLCAchr43180613Missense_MutationNAV1571L0.49
BLCAchr43238601Missense_Mutationrs377159286V3016M0.58
BLCAchr43180577Missense_MutationNAD1559N0.15
BLCAchr43206571Missense_MutationNAH1932Y0.09
BLCAchr43228624Missense_MutationnovelH2620N0.26
BLCAchr43233303SilentnovelL2802L0.2
BLCAchr43211997SilentNAK2161K0.2
BLCAchr43235656Missense_Mutationrs374836871S2888C0.12
BLCAchr43235576SilentnovelV2861V0.21
BLCAchr43146892Missense_MutationnovelP1080Q0.23
BLCAchr43206854SilentNAL1982L0.52
BLCAchr43146900Missense_MutationnovelL1083V0.03
BLCAchr43146904Nonsense_MutationnovelS1084*0.07
BLCAchr43130031SilentnovelF617F0.21
BRCAchr43220267Missense_MutationnovelK2443T0.24
BRCAchr43224089Missense_MutationnovelQ2575E0.07
BRCAchr43204147Missense_MutationNAV1906A0.23
BRCAchr43177352SilentNAL1476L0.29
BRCAchr43115374Missense_MutationnovelS273L0.31
BRCAchr43214107In_Frame_DelnovelY2309del0.27
BRCAchr43154303Missense_MutationNAP1170R0.16
BRCAchr432414803'UTRnovel0.2
BRCAchr43215127Missense_MutationNAE2324K0.32
BRCAchr43174739Missense_MutationNAQ1395H0.14
BRCAchr43222410Missense_MutationNAE2465K0.12
BRCAchr43146858Missense_Mutationrs41264725M1069V0.15
BRCAchr43208810Missense_MutationnovelL2064V0.14
BRCAchr43222392Missense_MutationnovelT2459A0.15
BRCAchr43121359SilentnovelG400G0.23
BRCAchr43131322Missense_MutationNAD675N0.23
BRCAchr43233330SilentNAL2811L0.53
BRCAchr43189021Missense_MutationNAE1766K0.3
BRCAchr43235583Missense_MutationNAS2864P0.3
BRCAchr43188988Missense_Mutationrs758872041I1755V0.2
BRCAchr43160377SilentNAL1283L0.17
BRCAchr43182431Missense_Mutationrs776464028Q1609H0.04
BRCAchr43233252Silentrs200390355G2785G0.38
BRCAchr43212020Missense_MutationnovelR2169P0.08
BRCAchr43146880Nonsense_MutationNAS1076*0.18
BRCAchr43132650SilentNAL775L0.45
CESCchr43127433SilentnovelG524G0.17
CESCchr43107337Missense_MutationNAE221K0.29
CESCchr43180577Missense_MutationNAD1559N0.24
CESCchr43217944Missense_MutationnovelP2412S0.09
CESCchr43178419Missense_MutationnovelA1529T0.05
CESCchr43222450Missense_MutationnovelQ2478R0.16
CESCchr43134416Missense_MutationNAL837V0.27
CESCchr43074829Missense_MutationnovelA2S0.24
CESCchr43131356Missense_Mutationrs758062108R686H0.31
CESCchr43236233Missense_Mutationrs779386355R2957Q0.32
CESCchr43187769Missense_Mutationrs775722498P1703L0.29
CESCchr43217863Missense_MutationnovelP2385S0.12
CESCchr43189072SilentnovelL1783L0.65
CESCchr43212010Missense_MutationNAE2166K0.35
CESCchr432405213'UTRnovel0.38
CESCchr432432693'UTRnovel0.28
CESCchr43148132SilentnovelL1141L0.38
CESCchr43187718Missense_MutationNAQ1686P0.65
CESCchr430748195'UTRnovel0.57
CESCchr43115355Missense_Mutationrs747789499R267W0.51
CESCchr43199779Missense_MutationnovelD1806N0.38
COADchr43214052Missense_MutationNAG2290V0.23
COADchr43238550Missense_Mutationrs752320329G2999R0.34
COADchr43206611Missense_MutationNAR1945Q0.28
COADchr43131372Silentrs374740113S691S0.4
COADchr43238549Silentrs767267961I2998I0.34
COADchr43220182Missense_Mutationrs759626383V2415M0.21
COADchr43127293SilentNAL478L0.32
COADchr43130348SilentNAR637R0.15
COADchr43206878Silentrs748994859T1990T0.23
COADchr43105378Missense_Mutationrs780520733R184C0.33
COADchr43172978Missense_Mutationrs752386077S1338L0.39
COADchr43239913Missense_MutationnovelA3095T0.31
COADchr43220274SilentnovelV2445V0.44
COADchr43154341Nonsense_MutationNAR1183*0.32
COADchr43174788Missense_Mutationrs754826573R1412C0.38
COADchr43239915SilentNAA3095A0.27
COADchr43217877Silentrs528326466T2389T0.31
COADchr43212643Frame_Shift_DelNAH2238Ffs*60.28
COADchr43208881Silentrs200512822H2087H0.42
COADchr43238964SilentnovelP3067P0.24
COADchr43238894Missense_MutationNAT3044M0.45
COADchr43217917Missense_MutationNAP2403A0.29
COADchr43228888Missense_Mutationrs377091390R2663Q0.32
COADchr43238597Silentrs373377741T3014T0.41
COADchr43238510Silentrs374515950D2985D0.29
COADchr43212610SilentnovelL2225L0.47
COADchr43131390Frame_Shift_DelNAN699Mfs*90.14
COADchr43103870Missense_MutationNAK172T0.3
COADchr43127559Silentrs756855367T566T0.44
COADchr43132569SilentNAQ748Q0.32
COADchr43182358Missense_MutationNAL1585S0.41
COADchr43186647Missense_MutationNAE1639D0.43
COADchr43229982Silentrs754534599D2735D0.47
COADchr43127479Missense_Mutationrs747431001V540I0.45
COADchr43154316Frame_Shift_DelNAP1176Lfs*30.18
COADchr43235281Splice_Regionnovel0.39
COADchr43131390Frame_Shift_DelNAN699Mfs*90.2
COADchr43127442Missense_MutationNAE527D0.35
COADchr43129944Missense_MutationnovelN588K0.34
COADchr43160286Missense_MutationNAT1253M0.07
COADchr43212565Splice_RegionNAG2210G0.35
COADchr43148149Missense_MutationnovelK1147T0.21
COADchr43174983Missense_MutationnovelL1428R0.09
COADchr43115411Silentrs751408145Q285Q0.22
COADchr43187836Missense_MutationNAE1725D0.38
COADchr43174968Missense_Mutationrs777708796R1423H0.34
COADchr43131293Missense_Mutationrs556061424R665H0.19
COADchr43174789Missense_Mutationrs201053245R1412H0.18
COADchr43228915Missense_Mutationrs202216456S2672L0.4
COADchr43099308Missense_MutationNAA128T0.17
COADchr43180544Missense_Mutationrs770827394D1548N0.19
COADchr43175085Missense_MutationnovelY1462F0.21
COADchr43131660SilentNAV707V0.4
COADchr43206604Missense_Mutationrs201639415V1943I0.24
COADchr43174955Missense_Mutationrs375899948H1419N0.1
COADchr43217944Frame_Shift_DelNAP2413Hfs*440.6
DLBCchr43127560Missense_MutationNAE567K0.41
DLBCchr43182453Missense_MutationnovelM1617V0.32
ESCAchr43131385Missense_MutationnovelG696R0.15
ESCAchr43238952Frame_Shift_DelnovelS3064Pfs*250.54
ESCAchr432405083'UTRnovel0.42
ESCAchr43206656Missense_Mutationrs762436871R1960H0.38
ESCAchr43229992Missense_Mutationrs772607321A2739T0.52
ESCAchr43107340In_Frame_DelnovelS223_E226del0.27
ESCAchr43157188Missense_Mutationrs376975573A1248T0.26
ESCAchr43132597Missense_MutationnovelD758N0.21
ESCAchr432430843'UTRnovel0.13
ESCAchr43154326Frame_Shift_InsnovelS1179Kfs*270.13
GBMchr43116224SilentnovelK343K0.07
GBMchr43116121Missense_MutationnovelL309Q0.05
GBMchr43207344Missense_Mutationrs181217572G2047R0.41
GBMchr43175045SilentnovelL1449L0.09
GBMchr43131390SilentnovelG697G0.33
GBMchr43172339Missense_MutationnovelG1295E0.28
GBMchr43235652Frame_Shift_DelnovelL2887Sfs*160.06
GBMchr43116129Missense_MutationnovelL312I0.2
GBMchr43172362Nonsense_MutationNAR1303*0.27
GBMchr43206897SilentnovelL1997L0.23
GBMchr43236162SilentnovelV2933V0.21
GBMchr43127406SilentnovelC515C0.3
GBMchr43175013Missense_MutationnovelT1438N0.08
GBMchr43148100Missense_MutationnovelD1131Y0.1
GBMchr43186629SilentnovelV1633V0.09
GBMchr43199769SilentnovelL1802L0.11
GBMchr43239967Missense_MutationnovelQ3113E0.15
GBMchr43172351Missense_MutationnovelS1299C0.15
GBMchr43175059SilentnovelA1453A0.24
GBMchr43229949SilentnovelL2724L0.07
GBMchr43223482Frame_Shift_DelnovelV2516Gfs*90.06
GBMchr43236157Nonsense_MutationnovelK2932*0.07
GBMchr43220244SilentnovelI2435I0.19
HNSCchr43224068Missense_MutationnovelI2568V0.22
HNSCchr43238892SilentnovelF3043F0.29
HNSCchr43233207Silentrs369914566T2770T0.27
HNSCchr43238953Missense_MutationnovelS3064P0.23
HNSCchr43129944Missense_MutationnovelN588K0.06
HNSCchr43129945Missense_MutationnovelQ589E0.06
HNSCchr43099346SilentnovelE140E0.08
HNSCchr43180565Missense_MutationnovelT1555A0.18
HNSCchr43115345SilentnovelS263S0.55
HNSCchr43132719Splice_RegionnovelT798T0.3
HNSCchr43099375Missense_MutationNAC150Y0.15
HNSCchr43199852Missense_MutationnovelP1830L0.13
HNSCchr43154316Frame_Shift_DelNAP1176Lfs*30.36
HNSCchr43136310Missense_Mutationrs369875192A928T0.09
HNSCchr43187781Missense_MutationnovelS1707F0.08
HNSCchr43187782SilentnovelS1707S0.08
HNSCchr43103865SilentnovelL170L0.15
HNSCchr43127373SilentnovelT504T0.41
HNSCchr43180544Missense_Mutationrs770827394D1548N0.23
HNSCchr43217901SilentnovelI2397I0.26
HNSCchr43228977Missense_Mutationrs767514232P2693S0.32
KICHchr43105404SilentnovelE192E0.32
KIRCchr43115421Frame_Shift_DelnovelS289Mfs*40.31
KIRCchr43206835Missense_MutationNAC1976F0.14
KIRCchr43206528SilentNAT1917T0.2
KIRCchr43131752Frame_Shift_DelnovelL739Pfs*140.1
KIRCchr43136285SilentNAE919E0.3
KIRPchr43229007Missense_MutationNAS2703P0.39
KIRPchr43160330Missense_Mutationrs779780620R1268C0.38
KIRPchr43199835SilentNAS1824S0.07
KIRPchr43228887SilentnovelR2663R0.31
LGGchr43224121Silentrs779366537P2585P0.04
LGGchr43238918Missense_MutationnovelA3052D0.16
LGGchr43172319Splice_SitenovelX1289_splice0.09
LGGchr43186720Splice_SitenovelX1663_splice0.37
LGGchr43235365Silentrs759383537D2846D0.38
LGGchr43212695Missense_MutationnovelV2254M0.18
LIHCchr43239872Missense_MutationnovelG3081A0.43
LIHCchr43129960Nonsense_MutationnovelQ594*0.52
LIHCchr43207291Frame_Shift_InsnovelQ2030Pfs*430.31
LIHCchr43207292SilentnovelA2029A0.3
LIHCchr43127497Missense_Mutationrs781353727M546V0.47
LIHCchr43206533Missense_MutationnovelL1919R0.33
LIHCchr43187869SilentNAP1736P0.72
LIHCchr43224122Missense_MutationNAA2586S0.4
LIHCchr43177382Missense_MutationNAQ1486H0.19
LIHCchr43239885Missense_MutationnovelQ3085H0.19
LIHCchr43189081Missense_MutationNAI1786V0.4
LIHCchr43238515Missense_MutationNAF2987Y0.09
LIHCchr43235699SilentNAL2902L0.49
LIHCchr43235734Missense_MutationNAR2914L0.07
LIHCchr43121280Missense_MutationNAT374N0.4
LIHCchr43222398Missense_Mutationrs764639811R2461C0.37
LIHCchr43160379Missense_MutationnovelQ1284R0.25
LIHCchr43228634Missense_MutationNAW2623L0.49
LIHCchr43240057Nonstop_MutationNA*3143Rext*80.55
LIHCchr43228731SilentnovelS2655S0.12
LUADchr43105371SilentnovelR181R0.12
LUADchr43228995Missense_MutationnovelE2699K0.25
LUADchr43172971Missense_MutationNAS1336C0.57
LUADchr43154340SilentnovelR1182R0.36
LUADchr43220179Splice_Regionnovel0.1
LUADchr43212107Missense_Mutationrs777249004P2198L0.35
LUADchr43199883SilentNAL1840L0.28
LUADchr43127588Missense_MutationNAS576L0.1
LUADchr43233327SilentNAL2810L0.35
LUADchr43127382Silentrs201861325A507A0.36
LUADchr43175063SilentNAL1455L0.26
LUADchr43146872SilentnovelL1073L0.35
LUADchr43230030Silentrs2229985A2751A0.3
LUADchr43235348Missense_MutationNAE2841Q0.11
LUADchr43225668SilentnovelL2591L0.22
LUADchr43154306Missense_MutationnovelS1171C0.27
LUADchr43182354Missense_MutationnovelV1584L0.13
LUADchr43115356Missense_MutationnovelR267Q0.07
LUADchr43173106Missense_MutationnovelA1381T0.17
LUADchr43225705Missense_MutationnovelE2604K0.16
LUADchr43132874Missense_MutationNAS819C0.31
LUADchr43177352Missense_MutationNAL1476F0.31
LUADchr43174945Splice_SitenovelX1416_splice0.13
LUADchr43238906Missense_MutationNAP3048L0.32
LUADchr43199870Nonsense_MutationnovelW1836*0.38
LUADchr43187860Missense_MutationnovelK1733N0.13
LUADchr43135910SilentNAV880V0.09
LUADchr43154355SilentNAE1187E0.29
LUADchr43220272Missense_MutationNAV2445I0.21
LUSCchr43130352Missense_MutationnovelP639S0.61
LUSCchr43238950Missense_MutationNAA3063P0.24
LUSCchr43224018Missense_MutationnovelR2551T0.25
LUSCchr43115365Missense_MutationNAA270V0.07
LUSCchr43086947Frame_Shift_DelnovelE91Dfs*100.26
LUSCchr43228737SilentNAV2657V0.18
LUSCchr43229990Missense_MutationnovelL2738P0.24
LUSCchr43238538Missense_MutationNAN2995H0.32
LUSCchr43130370Missense_MutationnovelD645Y0.26
LUSCchr43131371Missense_Mutationrs779467594S691L0.19
LUSCchr43187843Missense_MutationNAE1728K0.1
LUSCchr43186668SilentNAL1646L0.24
LUSCchr43186669Missense_MutationNAR1647C0.24
LUSCchr43122931Frame_Shift_DelnovelK440Rfs*140.18
LUSCchr43222404Missense_MutationnovelQ2463E0.34
LUSCchr43134524Missense_MutationnovelA873T0.48
LUSCchr43206499Missense_MutationNAQ1908E0.2
LUSCchr43233309Silentrs71608259P2804P0.13
LUSCchr43225700Missense_MutationnovelN2602S0.3
LUSCchr43206865Missense_MutationnovelG1986E0.47
LUSCchr43187772Missense_MutationNAY1704C0.2
LUSCchr43208905SilentnovelP2095P0.2
LUSCchr43238816Splice_SitenovelX3019_splice0.18
MESOchr43127588Nonsense_MutationnovelS576*0.14
MESOchr43116241In_Frame_DelnovelS350del0.64
OVchr43180588SilentNAK1562K0.06
OVchr43212603Missense_Mutationrs375059996R2223Q0.07
OVchr43235373Missense_Mutationrs144891713P2849L0.18
OVchr43187669Nonsense_MutationnovelQ1670*0.04
OVchr43214128SilentnovelL2315L0.14
OVchr43220197Missense_MutationNAW2420R0.09
OVchr43182402Missense_MutationnovelE1600Q0.36
OVchr43230022Missense_MutationnovelA2749P0.09
OVchr43212016Missense_MutationnovelA2168T0.27
OVchr43229963Missense_MutationnovelR2729M0.19
OVchr43208838In_Frame_InsnovelP2073_S2074insAVHRN0.07
OVchr43206627Silentrs201305332S1950S0.24
OVchr43217843Missense_MutationnovelH2378P0.13
OVchr43175045SilentnovelL1449L0.06
OVchr43186653SilentNAL1641L0.11
OVchr43127529SilentNAS556S0.22
OVchr43175075Missense_MutationnovelR1459G0.21
OVchr43182387Missense_MutationnovelC1595S0.18
OVchr43204014Missense_MutationnovelS1862C0.05
OVchr43220225Missense_MutationnovelG2429D0.07
PAADchr43131776Splice_SitenovelX746_splice0.19
PAADchr43140649Missense_MutationnovelI980L0.17
PAADchr43142869Missense_MutationnovelT1017A0.17
PAADchr43238903Missense_MutationnovelA3047V0.24
PCPGchr43235635Missense_MutationnovelG2881V0.31
PRADchr43233249Silentrs751199242H2784H0.24
PRADchr43233285Silentrs769866904D2796D0.13
PRADchr43132832Missense_Mutationrs140979048A805V0.43
PRADchr43175108Splice_SiteNAX1469_splice0.07
PRADchr43204101Missense_MutationnovelR1891G0.36
PRADchr43132832Missense_Mutationrs140979048A805V0.34
PRADchr43208882Missense_MutationNAV2088M0.17
READchr43206924Missense_Mutationrs777338986R2006C0.18
READchr43148095Missense_MutationNAL1129P0.16
READchr43206637Missense_MutationnovelI1954V0.13
READchr43086946Nonsense_MutationNAE91*0.44
READchr43175011Silentrs771433441T1437T0.48
READchr43180544Missense_Mutationrs770827394D1548N0.09
READchr43186701Silentrs199866794F1657F0.06
READchr43212691Silentrs369632008F2252F0.2
READchr43238949Silentrs756339121S3062S0.29
SARCchr43223449Missense_MutationnovelA2505G0.15
SARCchr43213993Silentrs370817761P2270P0.27
SARCchr432406913'UTRrs1420373450.41
SARCchr43236245Frame_Shift_DelnovelF2962Lfs*230.87
SARCchr43235745Missense_MutationnovelA2918P0.22
SARCchr43136230Nonsense_MutationnovelL901*0.12
SARCchr43186665SilentNAS1645S0.33
SKCMchr43225703Missense_MutationnovelP2603L0.28
SKCMchr43225704Silentrs570565498P2603P0.3
SKCMchr43214065SilentnovelV2294V0.38
SKCMchr43214066Missense_MutationnovelV2295I0.36
SKCMchr43121380SilentNAA407A0.25
SKCMchr43131371Missense_Mutationrs779467594S691L0.38
SKCMchr43121407SilentNAR416R0.18
SKCMchr43240020SilentnovelL3130L0.3
SKCMchr43235603SilentNAT2870T0.44
SKCMchr43132866SilentNAK816K0.2
SKCMchr43134443Missense_MutationNAG846R0.22
SKCMchr43238464Missense_MutationnovelP2970L0.35
SKCMchr43233227Missense_MutationnovelP2777L0.42
SKCMchr43233228SilentnovelP2777P0.42
SKCMchr43199848Missense_MutationnovelH1829Y0.63
SKCMchr43220213Missense_MutationnovelG2425E0.07
SKCMchr43099323SilentNAL133L0.1
SKCMchr43172344SilentNAL1297L0.08
SKCMchr43173009SilentNAS1348S0.27
SKCMchr43178415SilentNAI1527I0.2
SKCMchr43186665SilentNAS1645S0.27
SKCMchr43228913Frame_Shift_DelnovelS2672Rfs*250.31
SKCMchr43173020Missense_MutationNAP1352L0.93
SKCMchr43187695SilentNAA1678A0.93
SKCMchr43187786Missense_MutationnovelT1709A0.44
SKCMchr43127321Missense_MutationNAP487L0.33
SKCMchr43212691Silentrs369632008F2252F0.52
SKCMchr43229972Missense_MutationNAP2732L0.58
SKCMchr43224101Missense_MutationnovelP2579S0.32
SKCMchr43173005Missense_MutationNAS1347F0.5
SKCMchr43211992Nonsense_MutationnovelQ2160*0.2
SKCMchr43145197Missense_MutationNAV1038I0.32
SKCMchr43228705Missense_MutationNAP2647S0.24
SKCMchr43186665SilentNAS1645S0.36
SKCMchr43146841Missense_MutationNAT1063I0.18
SKCMchr43208790Missense_MutationnovelS2057F0.49
SKCMchr43208791SilentnovelS2057S0.49
SKCMchr43172335SilentNAL1294L0.41
SKCMchr43233348SilentNAI2817I0.45
SKCMchr43187766Missense_MutationNAS1702F0.49
SKCMchr43199835SilentNAS1824S0.32
SKCMchr43238879Missense_MutationNAS3039F0.24
SKCMchr43132618Nonsense_MutationNAR765*0.25
SKCMchr43099290Nonsense_MutationNAQ122*0.51
SKCMchr43146892Missense_MutationNAP1080L0.15
SKCMchr43235608Missense_MutationNAS2872F0.1
SKCMchr43224054Missense_MutationNAS2563L0.51
SKCMchr43240003Missense_MutationNAP3125S0.28
SKCMchr43148032Missense_MutationNAS1108L0.48
SKCMchr43116092Silentrs776923517L299L0.08
SKCMchr43127462Missense_MutationNAS534F0.11
SKCMchr43222428Missense_MutationNAL2471F0.06
SKCMchr43212063SilentNAL2183L0.51
SKCMchr43212659Missense_MutationNAP2242S0.25
SKCMchr43206911SilentNAF2001F0.39
SKCMchr43099314Missense_MutationNAE130K0.51
SKCMchr43157117Missense_MutationNAS1224F0.31
SKCMchr43189039Missense_MutationnovelY1772D0.44
SKCMchr43214008Silentrs780305834L2275L0.33
SKCMchr43212021Frame_Shift_DelnovelE2170Rfs*20.47
SKCMchr43208888Missense_MutationNAL2090V0.47
SKCMchr43228629SilentNAS2621S0.42
SKCMchr43154408Missense_MutationnovelE1205V0.08
SKCMchr43206569Missense_MutationNAS1931F0.32
SKCMchr43208791SilentnovelS2057S0.13
SKCMchr43223543Silentrs775119502L2536L0.17
SKCMchr43125593Missense_MutationNAE456K0.65
SKCMchr43187682Missense_Mutationrs753577443S1674L0.43
SKCMchr43238588SilentNAF3011F0.6
SKCMchr43208790Missense_MutationnovelS2057F0.43
SKCMchr43208791SilentnovelS2057S0.43
SKCMchr43107292SilentNAL206L0.18
SKCMchr43217919Silentrs376323222P2403P0.74
SKCMchr43127448SilentNAI529I0.25
SKCMchr43175045Missense_MutationnovelL1449V0.16
SKCMchr43229008Missense_MutationNAS2703F0.39
STADchr43105370Missense_MutationNAR181Q0.38
STADchr43208808Missense_MutationnovelR2063L0.35
STADchr43135904Splice_RegionnovelR878R0.5
STADchr43140617Missense_Mutationrs759239953T969M0.52
STADchr43222476Missense_MutationnovelS2487C0.21
STADchr43217917Missense_MutationNAP2403A0.14
STADchr43157116Missense_MutationNAS1224T0.1
STADchr43214134Splice_Regionrs376635317A2317A0.12
STADchr43188985Missense_MutationNAD1754H0.11
STADchr43217913SilentNAR2401R0.13
STADchr43225708Frame_Shift_InsnovelE2606Gfs*620.42
STADchr43086946Nonsense_MutationNAE91*0.28
STADchr43136299Missense_MutationNAR924Q0.34
STADchr43182417Nonsense_MutationNAR1605*0.36
STADchr43199752Missense_MutationNAA1797T0.35
STADchr43208807Missense_Mutationrs746044552R2063C0.26
STADchr43214135Frame_Shift_InsnovelA2319Cfs*100.13
STADchr43180635Missense_MutationNAL1578P0.17
STADchr43146877Missense_MutationNAS1075L0.09
STADchr43131355Missense_Mutationrs745573312R686C0.23
STADchr43214110SilentnovelY2309Y0.21
STADchr43132833Silentrs760077091A805A0.24
STADchr43238970Silentrs745832191V3069V0.43
STADchr43131390Frame_Shift_DelNAN699Mfs*90.28
STADchr43132887SilentNAC823C0.27
STADchr43213958Missense_MutationNAA2259S0.2
STADchr43206554Missense_MutationNAD1926G0.27
STADchr43188952Frame_Shift_DelnovelL1744*0.15
STADchr43131390Frame_Shift_DelNAN699Mfs*90.47
STADchr43211947SilentnovelL2145L0.39
STADchr43225745Splice_SitenovelX2616_splice0.3
STADchr43235729Silentrs369845532P2912P0.33
STADchr43131390Frame_Shift_DelNAN699Mfs*90.38
STADchr43187682Missense_Mutationrs753577443S1674L0.5
STADchr43199901SilentNAT1846T0.28
STADchr43131390Frame_Shift_DelNAN699Mfs*90.15
STADchr43235750Frame_Shift_DelnovelG2920Afs*20.36
STADchr43180588Missense_MutationNAK1562N0.1
STADchr43233177Silentrs529410176A2760A0.24
STADchr43131390Frame_Shift_DelNAN699Mfs*90.13
STADchr43131390Frame_Shift_DelNAN699Mfs*90.18
STADchr43212664SilentNAP2243P0.1
STADchr43121389SilentnovelE410E0.44
STADchr43222458Missense_MutationNAV2481M0.16
STADchr43157075Missense_MutationNAS1210Y0.3
STADchr43107309Silentrs750956107P211P0.2
STADchr43131390Frame_Shift_DelNAN699Mfs*90.18
STADchr43188981Missense_MutationNAL1752F0.23
STADchr43217912Missense_MutationNAR2401H0.25
STADchr43228728Silentrs369624996T2654T0.18
STADchr43148036Nonsense_MutationnovelW1109*0.17
TGCTchr43235734Missense_MutationNAR2914L0.19
UCECchr43178325SilentNAI1497I0.32
UCECchr43206517Missense_Mutationrs763949259E1914K0.27
UCECchr43233348SilentNAI2817I0.44
UCECchr43103837Missense_MutationnovelS161C0.35
UCECchr43103860Missense_MutationNAE169K0.3
UCECchr43154342Missense_MutationNAR1183Q0.21
UCECchr43131299Missense_MutationnovelK667R0.34
UCECchr43134503Missense_MutationNAT866A0.34
UCECchr43182353Splice_SitenovelX1584_splice0.15
UCECchr43206872SilentnovelV1988V0.1
UCECchr43099273Splice_SiteNAX116_splice0.29
UCECchr43134467SilentnovelL854L0.29
UCECchr43136309Silentrs188101620A927A0.31
UCECchr43142866Missense_MutationnovelS1016P0.45
UCECchr43160308Silentrs753867386T1260T0.48
UCECchr43187682Missense_Mutationrs753577443S1674L0.32
UCECchr43235734Missense_MutationNAR2914L0.41
UCECchr43208798Missense_MutationNAD2060N0.43
UCECchr43236244Missense_MutationnovelL2961I0.11
UCECchr43131293Missense_Mutationrs556061424R665H0.32
UCECchr43235721Missense_MutationnovelH2910N0.41
UCECchr43136247Missense_MutationnovelV907M0.48
UCECchr43180592Missense_MutationnovelL1564I0.34
UCECchr43154393Missense_MutationnovelP1200L0.14
UCECchr43223994Missense_MutationnovelF2543C0.26
UCECchr43129977Missense_MutationNAQ599H0.33
UCECchr43131640Missense_MutationnovelL701M0.15
UCECchr43132866Missense_MutationnovelK816N0.07
UCECchr43172373Missense_Mutationrs374335589M1306I0.28
UCECchr43125612Missense_MutationNAS462N0.28
UCECchr43103860Missense_MutationNAE169K0.11
UCECchr43160346Missense_MutationNAV1273A0.09
UCECchr43175007Missense_MutationNAY1436C0.25
UCECchr43208807Missense_Mutationrs746044552R2063C0.29
UCECchr43225680Missense_MutationnovelE2595D0.15
UCECchr43148127Nonsense_MutationnovelQ1140*0.23
UCECchr43199834Missense_MutationnovelS1824F0.24
UCECchr43217796Missense_MutationnovelM2362I0.17
UCECchr43228727Missense_Mutationrs375426084T2654M0.38
UCECchr43131390Frame_Shift_DelNAN699Mfs*90.38
UCECchr43154387Missense_MutationNAL1198S0.5
UCECchr432412483'UTRnovel0.4
UCECchr43160361Missense_MutationnovelL1278P0.32
UCECchr43148149Missense_MutationnovelK1147T0.41
UCECchr43160350SilentnovelL1274L0.46
UCECchr43175010Missense_Mutationrs760144960T1437M0.55
UCECchr43188976Missense_MutationnovelL1751I0.47
UCECchr43206529Missense_MutationnovelW1918R0.33
UCECchr43131390Frame_Shift_DelNAN699Mfs*90.36
UCECchr43129975Nonsense_MutationnovelQ599*0.35
UCECchr43212664SilentNAP2243P0.31
UCECchr43239966Silentrs763102180F3112F0.19
UCECchr432401413'UTRnovel0.44
UCECchr43121399Nonsense_MutationNAR414*0.34
UCECchr43182417Nonsense_MutationNAR1605*0.75
UCECchr43099375Missense_MutationNAC150Y0.33
UCECchr43116093Missense_Mutationrs113106141V300I0.35
UCECchr43148020Missense_MutationNAS1104Y0.47
UCECchr43186619Missense_MutationnovelA1630V0.4
UCECchr43115430Missense_MutationnovelL292I0.58
UCECchr43220274SilentnovelV2445V0.6
UCECchr43208870Missense_Mutationrs780493120G2084R0.33
UCECchr43182427Missense_MutationNAR1608Q0.11
UCECchr43131390Frame_Shift_DelNAN699Mfs*90.16
UCECchr43154384Missense_Mutationrs767004706P1197L0.53
UCECchr43134416Missense_MutationnovelL837F0.49
UCECchr43206556Missense_MutationnovelL1927M0.47
UCECchr43107395Missense_MutationnovelG240D0.35
UCECchr43132633Missense_Mutationrs371462947I770V0.4
UCECchr43208896SilentnovelT2092T0.31
UCECchr43238512Missense_MutationnovelD2986V0.29
UCECchr43223417Missense_MutationnovelE2494D0.07
UCECchr43225701Frame_Shift_DelnovelE2604Sfs*70.18
UCECchr43239959Missense_MutationnovelR3110M0.28
UCECchr43189043Nonsense_MutationnovelC1773delins*0.02
UCECchr43154338Nonsense_MutationnovelR1182*0.16
UCECchr43206655Missense_MutationNAR1960C0.14
UCECchr43235334Missense_Mutationrs757464347A2836V0.4
UCECchr43172995Missense_Mutationrs200657357R1344C0.3
UCECchr43189038Missense_MutationNAF1771L0.42
UCECchr43212692Missense_Mutationrs374360323V2253M0.1
UCECchr43223440Missense_MutationNAA2502V0.51
UCECchr43238965Missense_MutationnovelW3068R0.35
UCECchr432432983'UTRnovel0.3
UCECchr43235339Missense_MutationnovelY2838H0.6
UCECchr43116135Missense_Mutationrs756912473V314M0.35
UCECchr43122894Frame_Shift_DelnovelG428Vfs*180.32
UCECchr43127575Missense_MutationnovelA572T0.25
UCECchr43186670Missense_MutationnovelR1647H0.31
UCECchr43116251SilentnovelE352E0.34
UCECchr43129939Missense_MutationnovelD587N0.56
UCECchr43131752Missense_MutationnovelP738H0.24
UCECchr43172362Nonsense_MutationNAR1303*0.51
UCECchr43233330SilentnovelL2811L0.44
UCECchr43235666Silentrs781175874L2891L0.35
UCECchr43230000SilentnovelY2741Y0.34
UCECchr43172362Nonsense_MutationNAR1303*0.24
UCECchr43233286Missense_MutationNAD2797N0.33
UCECchr43233219SilentNAS2774S0.28
UCECchr43228677Silentrs768674350D2637D0.51
UCECchr43099323Missense_MutationnovelL133M0.2
UCECchr43209827Missense_MutationnovelD2098N0.15
UCECchr43115417Missense_MutationnovelF287L0.29
UCECchr432408563'UTRrs3726640170.19
UCECchr43121281Silentrs765073592T374T0.33
UCECchr43199936Missense_Mutationrs377136202P1858L0.17
UCECchr43132597Missense_MutationnovelD758N0.62
UCECchr43099331Silentrs368590997C135C0.12
UCECchr43187770Silentrs760738948P1703P0.06
UCECchr43206892Missense_MutationNAR1995M0.47
UCECchr43154368Nonsense_MutationnovelE1192*0.43
UCECchr43186708Missense_MutationnovelP1660T0.3
UCECchr43236197Frame_Shift_DelnovelD2947Tfs*50.25
UCECchr43130024Missense_MutationnovelE615G0.11
UCECchr43146799Missense_MutationnovelV1049A0.44
UCECchr43160381Missense_MutationnovelD1285N0.35
UCECchr43236233Missense_Mutationrs779386355R2957Q0.39
UCECchr43136325Missense_MutationnovelR933W0.04
UCECchr43188955Missense_MutationNAL1744I0.46
UCECchr43228642Missense_Mutationrs757552793N2626D0.27
UCECchr43125557Missense_Mutationrs779703721L444F0.19
UCECchr43182427Missense_MutationNAR1608Q0.44
UCECchr43212101Missense_MutationNAA2196V0.32
UCECchr43127550Missense_MutationnovelQ563H0.27
UCECchr43129933Missense_Mutationrs764859997G585S0.3
UCECchr43140523SilentnovelL938L0.27
UCECchr43174968Missense_Mutationrs777708796R1423H0.23
UCECchr43199925SilentnovelV1854V0.19
UCECchr43204057Missense_MutationnovelE1876A0.26
UCECchr43223440Missense_MutationNAA2502V0.21
UCECchr43121257Silentrs760722683Q366Q0.35
UCECchr43235289Missense_MutationnovelV2821A0.29
UCECchr43127475SilentnovelS538S0.05
UCECchr43148067Missense_MutationNAT1120A0.25
UCECchr43099371Missense_MutationnovelE149K0.36
UCECchr43206877Missense_Mutationrs772994297T1990M0.37
UCECchr43217947Missense_MutationnovelP2413S0.44
UCECchr43142791Missense_MutationnovelP991S0.45
UCECchr43174729Missense_MutationnovelD1392G0.35
UCECchr43182417Nonsense_MutationNAR1605*0.45
UCECchr43206564Missense_MutationnovelS1929R0.28
UCECchr43229982Silentrs754534599D2735D0.35
UCECchr432401283'UTRnovel0.23
UCECchr43239891SilentnovelD3087D0.5
UCSchr43224120Missense_MutationnovelP2585L0.24
UCSchr43230041Missense_MutationnovelM2755R0.06
UVMchr43121326Silentrs759711755P389P0.5

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CESCDEL0.36610.12975
COADDEL0.26160.14844
HNSCDEL0.33910.00046209
LIHCDEL0.19460.14149
LUADDEL0.14530.16034
SKCMDEL0.17170.09333
UCECDEL0.1410.013734

Survival Analysis
CancerP-value Q-value
KIRC0.0001

Kaplan-Meier Survival Analysis

STAD0.015

Kaplan-Meier Survival Analysis

MESO0.018

Kaplan-Meier Survival Analysis

HNSC0.0013

Kaplan-Meier Survival Analysis

LUSC0.0092

Kaplan-Meier Survival Analysis

ESCA0.011

Kaplan-Meier Survival Analysis

KIRP0.00045

Kaplan-Meier Survival Analysis

COAD0.029

Kaplan-Meier Survival Analysis

PAAD0.011

Kaplan-Meier Survival Analysis

LIHC0.021

Kaplan-Meier Survival Analysis

Drugs

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Input Drug :


Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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