EuRBPDB

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  • Basic Information
  • Cancer Related Information

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000116062 (Gene tree)
Gene ID
2956
Gene Symbol
MSH6
Alias
GTBP
Full Name
mutS homolog 6
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
114,572 bases
Position
chr2:47,695,530-47,810,101
Accession
7329
RBP type
non-canonical RBP
Summary
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
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
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
29431736Capturing the interactome of newly transcribed RNARICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
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
ENST00000455383MSH6-206578-ENSP00000397484115 (aa)-C9J8Y8
ENST00000540021MSH6-2103930-ENSP000004464751230 (aa)-P52701
ENST00000622629MSH6-2154324-ENSP00000482078327 (aa)-A0A087WYT6
ENST00000420813MSH6-203491-ENSP00000390382101 (aa)-C9JH55
ENST00000493177MSH6-208813--- (aa)--
ENST00000607272MSH6-2122219--- (aa)--
ENST00000454137MSH6-205725--- (aa)--
ENST00000445503MSH6-2044158-ENSP00000405294160 (aa)-F8WAX8
ENST00000456246MSH6-207846-ENSP00000410570104 (aa)-F8W7G9
ENST00000606499MSH6-211833-ENSP0000047560551 (aa)-U3KQ72
ENST00000411819MSH6-202548-ENSP00000406248151 (aa)-C9J7Y7
ENST00000616033MSH6-2143429-ENSP000004802611067 (aa)-A0A087WWJ1
ENST00000538136MSH6-2094055-ENSP000004385801058 (aa)-P52701
ENST00000234420MSH6-2017476XM_024452819ENSP000002344201360 (aa)XP_024308587P52701
ENST00000614496MSH6-2134150XM_024452822ENSP000004778441058 (aa)XP_024308590P52701
Gene Model
Click here to download ENSG00000116062's gene model file
Pathways
Pathway IDPathway NameSource
hsa01524Platinum drug resistanceKEGG
hsa03430Mismatch repairKEGG
hsa05200Pathways in cancerKEGG
hsa05210Colorectal cancerKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000116062Platelet Function Tests1.7351700E-005-
ENSG00000116062Platelet Function Tests2.2146622E-006-
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000116062rs1800932247790942AMenopause (age at onset)26414677[0.11-0.23] years decrease0.17EFO_0004704
ENSG00000116062rs2098242247729680THIV-associated neurocognitive disorder (mild neurocognitive disorder)28447399[NR]3.179EFO_0007948|EFO_0007982
ENSG00000116062rs3136302247794240GHeel bone mineral density30598549[0.0071-0.0143] unit decrease0.0107039EFO_0009270
ENSG00000116062rs3136247247785960?Menarche (age at onset)30595370EFO_0004703
ENSG00000116062rs76928871247778682?Age at menopause30595370EFO_0004704
ENSG00000116062rs3136272247789757TGeneral risk tolerance (MTAG)30643258[0.005-0.0098] unit decrease0.0074EFO_0008579
ENSG00000116062rs3136302247794240?Heel bone mineral density30595370EFO_0009270
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000116062's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000116062MSH69946.201FBgn0036486Msh69143.594Drosophila_melanogaster
ENSG00000116062MSH610096.078ENSMUSG00000005370Msh610085.337Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000287magnesium ion binding16403449.IDAFunction
GO:0000400four-way junction DNA binding21873635.IBAFunction
GO:0000400four-way junction DNA binding12034830.IDAFunction
GO:0000710meiotic mismatch repair21873635.IBAProcess
GO:0000710meiotic mismatch repair-ISSProcess
GO:0000790nuclear chromatin-IEAComponent
GO:0003682chromatin binding-IEAFunction
GO:0003684damaged DNA binding21873635.IBAFunction
GO:0003690double-stranded DNA binding11809883.IDAFunction
GO:0005515protein binding8942985.9774676.10856833.11005803.11801590.14657349.16403449.19377479.25241761.26496610.IPIFunction
GO:0005515protein binding16403449.IPIFunction
GO:0005524ATP binding21873635.IBAFunction
GO:0005524ATP binding15105434.IDAFunction
GO:0005634nucleus26300262.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005794Golgi apparatus-IDAComponent
GO:0005829cytosol-IDAComponent
GO:0006281DNA repair8942985.IDAProcess
GO:0006290pyrimidine dimer repair21873635.IBAProcess
GO:0006298mismatch repair21873635.IBAProcess
GO:0006298mismatch repair10871409.23622243.IDAProcess
GO:0006298mismatch repair23603115.IGIProcess
GO:0006298mismatch repair8782829.IMPProcess
GO:0006298mismatch repair-TASProcess
GO:0007095mitotic G2 DNA damage checkpoint21873635.IBAProcess
GO:0008094DNA-dependent ATPase activity21873635.IBAFunction
GO:0008340determination of adult lifespan-ISSProcess
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage21873635.IBAProcess
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage-ISSProcess
GO:0009411response to UV21873635.IBAProcess
GO:0009411response to UV-ISSProcess
GO:0016032viral process-IEAProcess
GO:0016446somatic hypermutation of immunoglobulin genes-ISSProcess
GO:0016447somatic recombination of immunoglobulin gene segments-ISSProcess
GO:0016887ATPase activity16403449.IDAFunction
GO:0019899enzyme binding26300262.IPIFunction
GO:0030983mismatched DNA binding23622243.IDAFunction
GO:0030983mismatched DNA binding8942985.11756455.11801590.IDAFunction
GO:0032137guanine/thymine mispair binding21873635.IBAFunction
GO:0032137guanine/thymine mispair binding8942985.11809883.IDAFunction
GO:0032142single guanine insertion binding8942985.IDAFunction
GO:0032143single thymine insertion binding21873635.IBAFunction
GO:0032143single thymine insertion binding8942985.IDAFunction
GO:0032300mismatch repair complex21873635.IBAComponent
GO:0032301MutSalpha complex21873635.IBAComponent
GO:0032301MutSalpha complex8942985.23622243.IDAComponent
GO:0032357oxidized purine DNA binding11756455.11801590.IDAFunction
GO:0032405MutLalpha complex binding21873635.IBAFunction
GO:0032405MutLalpha complex binding16403449.IDAFunction
GO:0032876negative regulation of DNA endoreduplication21873635.IBAProcess
GO:0035064methylated histone binding21873635.IBAFunction
GO:0035064methylated histone binding23622243.IDAFunction
GO:0036297interstrand cross-link repair21873635.IBAProcess
GO:0042803protein homodimerization activity8942985.IPIFunction
GO:0043111replication fork arrest21873635.IBAProcess
GO:0043231intracellular membrane-bounded organelle-IDAComponent
GO:0043531ADP binding21873635.IBAFunction
GO:0043531ADP binding15105434.IDAFunction
GO:0043570maintenance of DNA repeat elements21873635.IBAProcess
GO:0043570maintenance of DNA repeat elements16388310.IMPProcess
GO:0045190isotype switching-ISSProcess
GO:0045830positive regulation of isotype switching-IEAProcess
GO:0045910negative regulation of DNA recombination21873635.IBAProcess
GO:0045910negative regulation of DNA recombination17715146.IDAProcess
GO:0051096positive regulation of helicase activity21873635.IBAProcess
GO:0051096positive regulation of helicase activity17715146.IDAProcess
GO:0097193intrinsic apoptotic signaling pathway-ISSProcess

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
24323032Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.J Clin Oncol2014 Jan 10Buchanan DDdoi: 10.1200/JCO.2013.51.2129
27803051Up-regulation of mismatch repair genes MSH6, PMS2 and MLH1 parallels development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer.Carcinogenesis2017 JanWilczak Wdoi: 10.1093/carcin/bgw116
19635727Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds.J Med Genet2010 FebGrindedal EMdoi: 10.1136/jmg.2009.068130
27261338Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.Gut2017 SepMller Pdoi: 10.1136/gutjnl-2016-311403
15805151No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.J Med Genet2005 AprVahteristo P-
25503122Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma.Anticancer Res2014 DecJentzsch T-
29342268Reduced Expression of Mismatch Repair Genes MSH6/MSH2 Directly Promotes Pituitary Tumor Growth via the ATR-Chk1 Pathway.J Clin Endocrinol Metab2018 Mar 1Uraki Sdoi: 10.1210/jc.2017-02332.
28387323CSE1L interaction with MSH6 promotes osteosarcoma progression and predicts poor patient survival.Sci Rep2017 Apr 7Cheng DDdoi: 10.1038/srep46238.
19861671Risk of pancreatic cancer in families with Lynch syndrome.JAMA2009 Oct 28Kastrinos Fdoi: 10.1001/jama.2009.1529.
18269114Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.Ulster Med J2008 JanDevlin LA-
21642682Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.JAMA2011 Jun 8Bonadona Vdoi: 10.1001/jama.2011.743.
15855819Defective DNA mismatch repair in long-term (> or =3 years) survivors with pancreatic cancer.Pancreatology2005Maple JT-
28176205Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.Fam Cancer2017 JulAkbari MRdoi: 10.1007/s10689-017-9973-1.
30136158Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.Mol Biol Rep2018 OctAravind Kumar Mdoi: 10.1007/s11033-018-4307-4
29345684MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Genet Med2018 OctRoberts MEdoi: 10.1038/gim.2017.254
23434150Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?Eur J Cancer2013 MayWin AKdoi: 10.1016/j.ejca.2013.01.029
23313663Benzo[α]pyrene repressed DNA mismatch repair in human breast cancer cells.Toxicology2013 Feb 8Chen Ydoi: 10.1016/j.tox.2013.01.003
25255306Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.Nat Commun2014 Sep 25Pritchard CCdoi: 10.1038/ncomms5988.
26544533Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.Pediatr Blood Cancer2016 MarBaris HNdoi: 10.1002/pbc.25818
18790734Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.J Biol Chem2008 Nov 14Cyr JLdoi: 10.1074/jbc.M806018200
19707776Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteins.Int J Colorectal Dis2010 JanMolaei Mdoi: 10.1007/s00384-009-0784-1
19787250Analysis of candidate target genes for mononucleotide repeat mutation in microsatellite instability-high (MSI-H) endometrial cancer.Int J Oncol2009 NovKawaguchi M-
15098177Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history.Am J Hum Genet2004 JunButtin BM-
17498565A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.Cancer Genet Cytogenet2007 MayKoehler U-
17854147Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families.World J Gastroenterol2007 Oct 7Yan SY-
20495877Magnetic resonance colonography for colorectal cancer screening in patients with Lynch syndrome gene mutation.Fam Cancer2010 DecLim EJdoi: 10.1007/s10689-010-9350-9.
19582761MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer.Mol Carcinog2009 NovCurtin Kdoi: 10.1002/mc.20566.
16106253The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.Br J Cancer2005 Aug 22Lawes DA-
21334712Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy.Hum Pathol2011 SepRadu OMdoi: 10.1016/j.humpath.2010.11.016
22495361MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.Appl Immunohistochem Mol Morphol2012 OctOkkels Hdoi: 10.1097/PAI.0b013e318249739b.
20872076Hereditary prostate cancer as a feature of Lynch syndrome.Fam Cancer2011 MarBauer CMdoi: 10.1007/s10689-010-9388-8.
19924528Association of rare MSH6 variants with familial breast cancer.Breast Cancer Res Treat2010 SepWasielewski Mdoi: 10.1007/s10549-009-0634-4
19492230Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers.J Toxicol Environ Health A2009Zhao YSdoi: 10.1080/15287390902841003.
14974087Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.Hum Mutat2004 MarPlaschke J-
25664706Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?Dis Colon Rectum2015 MarSamdani Tdoi: 10.1097/DCR.0000000000000262.
21559014Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.Br J Cancer2011 Jun 28Win AKdoi: 10.1038/bjc.2011.172
23301373Status of mismatch repair genes hMSH2 and hMSH6 in colorectal cancer in Saudi patients: an immunohistochemical analysis.East Mediterr Health J2012 NovAlkhalidi H-
17920897Recently identified colon cancer predispositions: MYH and MSH6 mutations.Semin Oncol2007 OctKastrinos F-
15571801Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.Cancer Genet Cytogenet2004 DecRey JM-
12019211Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.Hum Mol Genet2002 May 15Kariola R-
19685280Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.Fam Cancer2009Gir??ldez MDdoi: 10.1007/s10689-009-9282-4
27013479Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.BMC Urol2016 Mar 24Dominguez-Valentin Mdoi: 10.1186/s12894-016-0130-1.
16902769Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer.J Cancer Res Clin Oncol2007 JanChaksangchaichot P-
24622885Association between MSH6 G39E polymorphism and cancer susceptibility: a meta-analysis of 7,046 cases and 34,554 controls.Tumour Biol2014 JunLi Zdoi: 10.1007/s13277-014-1798-z
21710692Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer.J Pathol2011 OctMoelans CBdoi: 10.1002/path.2930
14767555Effect of exogenous MSH6 and POLD1 expression on the mutation rate of the HPRT locus in a human colon cancer cell line with mutator phenotype, DLD-1.Int J Oncol2004 MarYabuta T-
11807791Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.Int J Cancer2002 Feb 10Plaschke J-
22484182Thirty-nine-year-old with familial colon cancer, and variant of undetermined significance in MSH6.Semin Oncol2012 AprAdonizio Cdoi: 10.1053/j.seminoncol.2012.01.013.
12920072Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.J Med Genet2003 AugPlaschke J-
27468915First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.Fam Cancer2017 JanZiada-Bouchaar Hdoi: 10.1007/s10689-016-9917-1.
29442465Polymorphism of Gly39Glu (c.116G>A) hMSH6 is associated with sporadic colorectal cancer development in the Polish population: Preliminary results.Adv Clin Exp Med2017 DecZelga Pdoi: 10.17219/acem/64877.
28451866The 116G>A MSH6 and IVS1-1121C>T PMS2 Genes Polymorphisms Modulate the Risk of the Sporadic Colorectal Cancer Development in Polish Population.Pathol Oncol Res2018 AprZelga Pdoi: 10.1007/s12253-017-0231-5
28466842Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Nat Commun2017 May 3Haraldsdottir Sdoi: 10.1038/ncomms14755.
30486602The Tendency of Having MSH2 and MSH6 Microsatellite Instability among Clinicopathological Features in Patients with Colorectal CancerAsian Pac J Cancer Prev2018 Nov 29Arshita N-

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr2477832235'UTRnovel0.07
ACCchr247799466Nonsense_Mutationrs587779212R495*0.92
BLCAchr247805664SilentnovelL1201L0.06
BLCAchr247800341SilentnovelY786Y0.44
BLCAchr247800075Nonsense_MutationnovelQ698*0.28
BLCAchr2478079393'UTRnovel0.56
BLCAchr247800050Missense_MutationNAF689L0.24
BLCAchr247791023SilentnovelF119F0.06
BLCAchr247806840Missense_MutationnovelT1355A0.39
BLCAchr247799068In_Frame_DelnovelT363del0.16
BLCAchr247798940Silentrs375210430T319T0.1
BLCAchr247800621Missense_MutationNAD880Y0.16
BLCAchr247806650Missense_Mutationrs773763465R1334W0.21
BLCAchr247800459Missense_MutationnovelH826N0.65
BLCAchr247799442Missense_MutationnovelE487K0.29
BLCAchr247798738Nonsense_Mutationrs267608048S252*0.19
BLCAchr247800411Missense_MutationnovelE810K0.38
BRCAchr2478076813'UTRnovel0.3
BRCAchr247800445Missense_MutationnovelL821P0.24
BRCAchr247806545Missense_MutationnovelG1299C0.11
BRCAchr247800960Missense_MutationNAE993K0.23
BRCAchr247799310Missense_MutationnovelG443R0.19
BRCAchr247799609SilentnovelL542L0.09
BRCAchr247801129Missense_MutationNAS1049F0.16
BRCAchr247799370Nonsense_MutationNAE463*0.21
BRCAchr247799772Missense_MutationNAE597Q0.13
BRCAchr247806650Missense_Mutationrs773763465R1334W0.22
BRCAchr247800747Nonsense_Mutationrs587779246R922*0.29
BRCAchr247800075Missense_Mutationrs63750832Q698E0.24
BRCAchr2478071473'UTRnovel0.44
BRCAchr247800059Missense_MutationNAK692N0.13
CESCchr247799846SilentNAL621L0.27
CESCchr247805701Nonsense_MutationNAE1214*0.34
CESCchr247800333Missense_MutationnovelN784H0.12
CESCchr247798875Nonsense_Mutationrs146816935R298*0.25
COADchr247803500Frame_Shift_Insrs748452299F1088Lfs*50.23
COADchr247800819Nonsense_MutationNAE946*0.38
COADchr247806614Nonsense_MutationNAE1322*0.43
COADchr247791054Missense_MutationnovelH130N0.24
COADchr2478080593'UTRnovel0.2
COADchr2478080593'UTRnovel0.33
COADchr247798680Missense_MutationNAP233S0.32
COADchr247800134SilentnovelV717V0.16
COADchr247803433SilentnovelC1062C0.32
COADchr247798676SilentnovelV231V0.17
COADchr247795959Missense_MutationnovelA175T0.25
COADchr247800215SilentnovelE744E0.05
COADchr2478068983'UTRnovel0.32
COADchr247803552Frame_Shift_InsNAG1105Wfs*30.27
COADchr247798717Frame_Shift_InsNAR248Tfs*80.29
COADchr247799065Missense_Mutationrs63750440R361H0.3
COADchr247798725Nonsense_Mutationrs63749980R248*0.29
COADchr247800626Frame_Shift_DelnovelF882Lfs*240.31
COADchr247799353Missense_MutationNAA457D0.23
COADchr247800827SilentNAE948E0.3
COADchr247801002Missense_MutationnovelW1007R0.05
COADchr247803531Missense_Mutationrs63750253R1095H0.34
COADchr247806280Missense_MutationnovelC1241W0.14
COADchr247801053Missense_Mutationrs370505117R1024W0.36
COADchr247800178Missense_Mutationrs749746725R732Q0.23
COADchr247800608Missense_MutationNAM875I0.4
COADchr247803547Silentrs540252208T1100T0.34
COADchr247800819Nonsense_MutationNAE946*0.21
COADchr247803634SilentNAC1129C0.22
COADchr247791042In_Frame_InsnovelS126delinsYIT0.07
COADchr247803552Frame_Shift_InsNAG1105Wfs*30.23
COADchr247804948Silentrs398123231Y1159Y0.35
COADchr247803474Missense_Mutationrs779617676R1076H0.13
ESCAchr247806470Missense_MutationnovelE1274Q0.63
ESCAchr247798985Missense_MutationnovelK334N0.08
ESCAchr2477831385'UTRnovel0.27
ESCAchr2478073053'UTRnovel0.31
ESCAchr247795994Frame_Shift_InsnovelI188Rfs*250.29
ESCAchr247798773Missense_MutationnovelE264K0.3
ESCAchr247803444Missense_Mutationrs372103816Y1066C0.19
GBMchr247798940Silentrs375210430T319T0.07
GBMchr2478069523'UTRnovel0.05
GBMchr247799761Frame_Shift_DelnovelV594Ffs*160.04
GBMchr247799236Missense_MutationnovelS418Y0.29
GBMchr247799428Missense_Mutationrs773226008R482Q0.54
GBMchr247800215Missense_MutationnovelE744D0.06
GBMchr247803547Silentrs540252208T1100T0.22
GBMchr247799094Missense_MutationnovelE371K0.21
GBMchr247799931Missense_MutationnovelG650C0.21
GBMchr247799337Missense_Mutationrs780734507M452V0.07
GBMchr247799764Frame_Shift_DelnovelL595Yfs*150.2
GBMchr247806340SilentnovelA1261A0.04
GBMchr247798948Missense_MutationNAA322V0.25
GBMchr247796061Nonsense_Mutationrs747477669E209*0.28
GBMchr247800414Missense_MutationnovelL811V0.05
HNSCchr247799562Frame_Shift_DelnovelE528*0.12
HNSCchr247799644Missense_Mutationrs730881791R554H0.33
HNSCchr2478079723'UTRnovel0.19
HNSCchr247798925Missense_Mutationrs150440246S314R0.28
KICHchr247803552Frame_Shift_InsNAG1105Wfs*30.72
KIRCchr247801222Intronnovel0.38
KIRCchr247799250Missense_MutationNAL423I0.3
KIRCchr247805678Missense_MutationnovelA1206E0.33
KIRPchr247798745Frame_Shift_InsnovelE255Gfs*30.15
KIRPchr247799986Missense_MutationNAS668C0.37
LAMLchr247800401Silentrs770992427S806S0.43
LAMLchr247800324Missense_Mutationrs587779235P781T0.07
LGGchr247783274Missense_MutationnovelS14Y0.22
LGGchr247799151Missense_Mutationrs147737737D390N0.12
LIHCchr247799908Missense_MutationNAY642C0.5
LIHCchr247800156Missense_Mutationrs148898662I725V0.43
LIHCchr247791099Nonsense_MutationnovelK145*0.44
LIHCchr247783390Frame_Shift_DelnovelA53Gfs*230.17
LUADchr247803672Missense_Mutationrs267608089T1142M0.13
LUADchr247799827Missense_Mutationrs730881793C615F0.04
LUADchr247800058Missense_MutationnovelK692T0.04
LUADchr247799657SilentnovelV558V0.52
LUADchr247805671Missense_MutationNAA1204P0.23
LUADchr247806277Silentrs786203260K1240K0.15
LUADchr247806620Frame_Shift_InsnovelE1324Vfs*180.08
LUADchr247806622SilentnovelE1324E0.05
LUADchr247783343Missense_Mutationrs763104308A37V0.24
LUADchr247800033SilentnovelL684L0.15
LUADchr247799248Missense_MutationNAD422G0.06
LUADchr247806297Missense_Mutationrs786204182T1247S0.08
LUADchr247800717Missense_MutationNAW912R0.29
LUSCchr247800048Missense_MutationNAF689V0.22
LUSCchr2477832025'UTRnovel0.44
LUSCchr247798872Missense_MutationNAA297T0.39
LUSCchr247791072Missense_MutationnovelD136N0.17
LUSCchr247799505Missense_MutationnovelV508L0.11
LUSCchr247783299In_Frame_DelnovelA25_S28del0.29
LUSCchr247798994SilentNAL337L0.18
LUSCchr247805664Silentrs761458936L1201L0.06
LUSCchr247806231Missense_Mutationrs63750370T1225M0.2
LUSCchr247800879Missense_MutationnovelT966A0.14
MESOchr247783400Missense_MutationnovelG56E0.63
OVchr247800329SilentNAL782L0.37
OVchr247800056SilentnovelL691L0.08
OVchr247806216Missense_MutationnovelA1220G0.06
OVchr247801115Nonsense_MutationNAY1044*0.32
OVchr247799667Missense_MutationnovelD562N0.03
PAADchr2478069363'UTRnovel0.05
PAADchr247791039Nonsense_MutationnovelK125*0.28
PAADchr247799483SilentnovelA500A0.23
PAADchr247803531Missense_Mutationrs63750253R1095H0.23
PAADchr247806257Nonsense_MutationNAE1234*0.19
PCPGchr247804963SilentnovelV1164V0.07
PRADchr247800821Missense_MutationnovelE946D0.25
PRADchr247799130Missense_MutationNAR383G0.29
PRADchr2477831825'UTRnovel0.5
PRADchr247798940Silentrs375210430T319T0.39
PRADchr247799438SilentnovelQ485Q0.48
PRADchr247799727Frame_Shift_DelnovelF582Lfs*40.4
READchr247799273SilentNAG430G0.22
READchr247803550Missense_Mutationrs370353868K1101N0.27
READchr247800918Missense_MutationNAL979V0.1
READchr247803598Frame_Shift_InsnovelE1119Rfs*270.34
READchr247799793Nonsense_MutationnovelE604*0.36
READchr247800851Missense_MutationnovelE956D0.43
READchr247795977Missense_Mutationrs569728764E181K0.41
READchr247806254Missense_MutationNAK1233Q0.35
SARCchr247803500Frame_Shift_Insrs748452299F1088Lfs*50.3
SARCchr2478072593'UTRnovel0.18
SKCMchr2477831205'UTRnovel0.27
SKCMchr247800013Missense_MutationNAS677I0.22
SKCMchr247791026SilentnovelI120I0.34
SKCMchr247791027Missense_Mutationrs763593669R121C0.34
SKCMchr247800752SilentnovelK923K0.26
SKCMchr247803450Missense_Mutationrs398123230R1068Q0.39
SKCMchr247799402SilentnovelL473L0.28
SKCMchr247799403Missense_MutationnovelV474M0.3
SKCMchr247801040SilentnovelI1019I0.33
SKCMchr247798899Missense_MutationnovelG306R0.22
SKCMchr247798900Missense_MutationnovelG306E0.21
SKCMchr247803613SilentNAQ1122Q0.21
SKCMchr247795900Missense_MutationNAK155R0.11
SKCMchr247799572Missense_MutationnovelD530V0.42
STADchr247800668Frame_Shift_DelNAN897Ifs*90.27
STADchr247783363Missense_MutationnovelP44T0.19
STADchr247803553Frame_Shift_DelnovelF1104Lfs*110.25
STADchr247798999Missense_MutationNAA339D0.18
STADchr247798839Missense_MutationNAE286K0.27
STADchr247799172Missense_Mutationrs587779913Y397H0.33
STADchr2478079413'UTRnovel0.57
STADchr247791049Missense_MutationNAR128H0.17
STADchr247798940Silentrs375210430T319T0.31
STADchr247801207Intronnovel0.25
STADchr247798865SilentnovelV294V0.37
STADchr247801011Missense_MutationNAT1010A0.18
STADchr247804974Missense_MutationnovelT1168I0.23
STADchr247798789Missense_Mutationrs587779322T269S0.1
STADchr247800910Missense_Mutationrs63751113R976H0.34
STADchr247800729Missense_MutationnovelF916L0.32
STADchr247799983Missense_MutationNAD667V0.19
STADchr247800586Missense_Mutationrs780280765M868T0.22
STADchr247803553Frame_Shift_DelnovelF1104Lfs*110.2
TGCTchr247799710Missense_MutationnovelD576A0.35
THYMchr2478072183'UTRnovel0.37
UCECchr247803553Frame_Shift_DelnovelF1104Lfs*110.23
UCECchr247799904Nonsense_MutationNAE641*0.31
UCECchr247803547Silentrs540252208T1100T0.63
UCECchr247799428Missense_Mutationrs773226008R482Q0.31
UCECchr247800862Missense_MutationNAN960T0.16
UCECchr247803547Silentrs540252208T1100T0.34
UCECchr247806333Missense_MutationnovelN1259T0.04
UCECchr247801022Missense_MutationNAK1013N0.15
UCECchr247798940Silentrs375210430T319T0.33
UCECchr247801022Missense_MutationNAK1013N0.32
UCECchr247799088Missense_MutationnovelT369A0.11
UCECchr2478075163'UTRnovel0.3
UCECchr2478075883'UTRnovel0.27
UCECchr247799151Missense_Mutationrs147737737D390N0.43
UCECchr247800705Nonsense_MutationNAE908*0.45
UCECchr247800183Missense_Mutationrs587780671V734M0.48
UCECchr247799636SilentnovelG551G0.39
UCECchr247799854Missense_MutationnovelG624D0.45
UCECchr247799954SilentnovelQ657Q0.41
UCECchr247803474Missense_Mutationrs779617676R1076H0.42
UCECchr247806614Nonsense_MutationNAE1322*0.4
UCECchr247783245Missense_MutationnovelQ4H0.42
UCECchr247795996Missense_MutationNAK187T0.31
UCECchr247800859Missense_Mutationrs757653982R959H0.3
UCECchr2477831105'UTRnovel0.67
UCECchr247795957Missense_MutationnovelR174K0.15
UCECchr247803547Silentrs540252208T1100T0.04
UCECchr247795969Missense_Mutationrs786204186R178H0.23
UCECchr247799568Missense_MutationNAG529C0.24
UCECchr247806257Nonsense_MutationNAE1234*0.44
UCECchr247806502Silentrs2229018T1284T0.23
UCECchr247806803SilentNAR1342R0.05
UCECchr247799466Nonsense_Mutationrs587779212R495*0.36
UCECchr247800672Missense_MutationNAN897H0.09
UCECchr247800859Missense_Mutationrs757653982R959H0.29
UCECchr247801022Missense_MutationNAK1013N0.12
UCECchr247803552Frame_Shift_InsNAG1105Wfs*30.34
UCECchr247799964Missense_MutationnovelG661S0.24
UCECchr247800819Nonsense_MutationNAE946*0.28
UCECchr247806614Nonsense_MutationNAE1322*0.14
UCECchr247783329Silentrs553046896G32G0.38
UCECchr247783332Frame_Shift_DelnovelA34Pfs*470.38
UCECchr247800729Frame_Shift_DelnovelF916*0.4
UCECchr247800996Nonsense_Mutationrs63750563R1005*0.19
UCECchr247801146Frame_Shift_InsnovelV1056Sfs*100.38
UCECchr2478075553'UTRnovel0.27
UCECchr247800231Missense_MutationNAT750P0.15
UCECchr247800910Missense_Mutationrs63751113R976H0.36
UCECchr2478073813'UTRnovel0.3
UCECchr247801066Missense_MutationNAS1028L0.33
UCECchr247801181IntronNA0.44
UCECchr247799904Missense_MutationnovelE641K0.22
UCECchr247799122Missense_MutationnovelD380A0.55
UCECchr247803547Silentrs540252208T1100T0.13
UCECchr2478072183'UTRnovel0.32
UCECchr2477832155'UTRnovel0.29
UCECchr247803465Frame_Shift_InsnovelM1074Yfs*190.26
UCECchr247805629Frame_Shift_DelnovelF1191Lfs*40.23
UCECchr247799065Missense_Mutationrs63750440R361H0.39
UCECchr247798812Nonsense_MutationnovelE277*0.46
UCECchr2478073293'UTRnovel0.07
UCECchr247799250Missense_MutationnovelL423F0.31
UCECchr247799613Nonsense_MutationnovelE544*0.38
UCECchr2478073223'UTRnovel0.25
UCECchr247806282Missense_Mutationrs63750119R1242H0.29
UCECchr247798717Frame_Shift_InsNAR248Tfs*80.86
UCECchr247800832Missense_MutationNAS950I0.24
UCECchr247803582Missense_MutationnovelD1112A0.42
UCECchr247805677Missense_MutationnovelA1206S0.42
UCECchr247791113Missense_MutationnovelK149N0.39
UCECchr247798940Silentrs375210430T319T0.35
UCECchr247800910Missense_Mutationrs63751113R976H0.48
UCECchr247803614Missense_MutationnovelE1123K0.45
UCECchr247805674Missense_MutationnovelT1205A0.44
UCECchr2478071783'UTRnovel0.16
UCECchr247801213Intronnovel0.2
UCECchr247800859Missense_Mutationrs757653982R959H0.25
UCECchr247803474Missense_Mutationrs779617676R1076H0.29
UCECchr247799101Missense_MutationNAL373P0.12
UCECchr247800677Silentrs769668106P898P0.08
UCECchr247798900Missense_MutationnovelG306E0.15
UCECchr2478073293'UTRnovel0.39
UCECchr247790930SilentnovelC88C0.28
UCECchr247798870Missense_MutationnovelV296A0.2
UCECchr247803480Missense_Mutationrs376452612V1078A0.4
UCECchr2478076983'UTRnovel0.42
UCECchr247804931Missense_MutationnovelA1154T0.22
UCECchr247799014Missense_MutationnovelQ344P0.38
UCECchr247799151Missense_Mutationrs147737737D390N0.15
UCECchr247800547Missense_MutationnovelI855N0.35
UCECchr247806614Nonsense_MutationNAE1322*0.19
UCECchr2478074623'UTRnovel0.17
UCECchr247799065Missense_Mutationrs63750440R361H0.59
UCECchr247798718Frame_Shift_DelnovelK247Nfs*320.31
UCECchr247798985Missense_MutationnovelK334N0.24
UCECchr247800298Missense_Mutationrs63750725R772Q0.42
UCECchr247803621Missense_MutationnovelG1125D0.34
UCECchr247799108Missense_MutationnovelE375D0.35
UCECchr247799428Missense_Mutationrs773226008R482Q0.31
UCECchr247800996Nonsense_Mutationrs63750563R1005*0.38
UCECchr247806257Nonsense_MutationNAE1234*0.41
UCECchr247806350Nonsense_MutationnovelG1265*0.44
UCECchr247799438Missense_MutationnovelQ485H0.48
UCECchr247806257Nonsense_MutationNAE1234*0.43
UCECchr247799627Missense_MutationnovelD548E0.38
UCECchr247806614Nonsense_MutationNAE1322*0.38
UCECchr2478073293'UTRnovel0.48
UCECchr247800819Nonsense_MutationNAE946*0.29
UCECchr2478080393'UTRnovel0.06
UCECchr247800819Nonsense_MutationNAE946*0.38
UCECchr247800542Missense_MutationnovelK853N0.29
UCECchr247803473Missense_Mutationrs63750617R1076C0.35
UCECchr2478072683'UTRnovel0.28
UCECchr2478076223'UTRnovel0.35
UCECchr247806585Missense_MutationnovelV1312A0.46
UCECchr247798987Frame_Shift_DelNAT336Ffs*110.41
UCECchr247783369Missense_MutationnovelG46R0.31
UCECchr2478072583'UTRnovel0.26
UCECchr247800587Missense_Mutationrs749508276M868I0.3
UCECchr247799367Frame_Shift_InsnovelP462Hfs*210.07
UCECchr247803550Missense_Mutationrs370353868K1101N0.57
UCECchr247806546Missense_MutationNAG1299D0.53
UCECchr247790963Missense_Mutationrs63751258K99N0.31
UCECchr247799878Missense_Mutationrs750800736K632T0.26
UCECchr247800813Missense_MutationNAI944V0.43
UCECchr247799613Nonsense_MutationnovelE544*0.37
UCECchr247799644Missense_Mutationrs730881791R554H0.53
UCECchr247800372Missense_MutationnovelD797Y0.48
UCECchr247800946Missense_Mutationrs115386788R988H0.32
UCECchr247803474Missense_Mutationrs779617676R1076H0.55
UCECchr247806282Missense_Mutationrs63750119R1242H0.32
UCECchr247799455Missense_Mutationrs759643679M491T0.07
UCECchr247806269Missense_MutationNAT1238A0.29
UCECchr247799105Missense_MutationnovelK374N0.41
UCECchr247799777Missense_MutationnovelK598N0.37
UCECchr247800215SilentnovelE744E0.36
UCECchr247804952Missense_MutationnovelP1161S0.07
UCSchr247803501Frame_Shift_Delrs770288143F1088Sfs*20.49
UCSchr247791001Missense_Mutationrs587779934N112S0.4
UCSchr247799571Missense_MutationnovelD530Y0.4
UCSchr2478080943'UTRnovel0.33

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
KIRPDEL0.02430.08832
PAADDEL0.07070.2014
TGCTAMP0.24670.0050216

Survival Analysis
CancerP-value Q-value
THYM0.002

Kaplan-Meier Survival Analysis

SARC0.0012

Kaplan-Meier Survival Analysis

MESO0.0053

Kaplan-Meier Survival Analysis

ACC0.00011

Kaplan-Meier Survival Analysis

UCS0.023

Kaplan-Meier Survival Analysis

PRAD0.022

Kaplan-Meier Survival Analysis

LUSC0.032

Kaplan-Meier Survival Analysis

KIRP0.00011

Kaplan-Meier Survival Analysis

PAAD0.018

Kaplan-Meier Survival Analysis

BLCA0.012

Kaplan-Meier Survival Analysis

CESC0.011

Kaplan-Meier Survival Analysis

READ0.0077

Kaplan-Meier Survival Analysis

KICH0.0097

Kaplan-Meier Survival Analysis

UCEC0.00059

Kaplan-Meier Survival Analysis

LIHC0.0017

Kaplan-Meier Survival Analysis

DLBC0.046

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

LUAD0.043

Kaplan-Meier Survival Analysis

Drugs

Select Dataset :


Input Drug :


Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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