EuRBPDB

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  • Basic Information
  • Cancer Related Information

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000113522 (Gene tree)
Gene ID
10111
Gene Symbol
RAD50
Alias
hRad50|RAD50-2
Full Name
RAD50 double strand break repair protein
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
90,326 bases
Position
chr5:132,556,019-132,646,344
Accession
9816
RBP type
non-canonical RBP
Summary
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
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 & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
12007281Expression of MRE11 complex (MRE11, RAD50, NBS1) and hRap1 and its relation with telomere regulation, telomerase activity in human gastric carcinomas.Pathobiology2001Matsutani N-
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000378823RAD50-2018306-ENSP000003681001312 (aa)-Q92878
ENST00000416135RAD50-202923-ENSP00000389515100 (aa)-C9JNH8
ENST00000434288RAD50-2041052-ENSP00000396100158 (aa)-H7C0P8
ENST00000496204RAD50-208473--- (aa)--
ENST00000453394RAD50-2052076-ENSP00000400049660 (aa)-E7EN38
ENST00000533482RAD50-2094373-ENSP00000431225102 (aa)-E9PM98
ENST00000455677RAD50-206564-ENSP00000396860157 (aa)-H7C0V2
ENST00000487596RAD50-207738--- (aa)--
ENST00000423956RAD50-2032915-ENSP00000390971551 (aa)-E7ESD9
Gene Model
Click here to download ENSG00000113522's gene model file
Pathways
Pathway IDPathway NameSource
hsa03440Homologous recombinationKEGG
hsa03450Non-homologous end-joiningKEGG
hsa04218Cellular senescenceKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000113522Asthma2E-1627182965
ENSG00000113522Venous Thromboembolism9E-628203683
ENSG00000113522Dermatitis, Atopic4E-725865352
ENSG00000113522Asthma3E-720159242
ENSG00000113522Dermatitis, Atopic2E-1825574825
ENSG00000113522Psoriasis2E-1825574825
ENSG00000113522Asthma2E-727611488
ENSG00000113522Immunoglobulin E4E-818846228
ENSG00000113522Dermatitis, Atopic4E-1726482879
ENSG00000113522Asthma8E-724241537
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000113522rs20407045132637485?Asthma27611488[0.12-0.27] unit decrease0.195EFO_0000270
ENSG00000113522rs65960865132616530?Inflammatory skin disease25574825EFO_0000274|EFO_0000676
ENSG00000113522rs68715365132634182CAsthma (childhood onset)24241537[1.10-1.25]1.17EFO_0004591
ENSG00000113522rs22440125132565533CAsthma20159242[1.36-1.97]1.64EFO_0000270
ENSG00000113522rs119540995132619836CItch intensity from mosquito bite28199695[0.027-0.052] unit decrease0.0396282EFO_0008377
ENSG00000113522rs104790095132619905GNeutrophil percentage of white cells27863252[0.018-0.036] unit decrease0.02746763EFO_0007990
ENSG00000113522rs27063455132568236?Venous thromboembolism adjusted for sickle cell variant rs77121243-T282036831.459854EFO_0004286
ENSG00000113522rs96877495132619885TAllergic rhinitis30013184[1.04-1.09]1.06EFO_0005854
ENSG00000113522rs20407045132637485?IgE levels18846228[NR] % increase13.9EFO_0004579
ENSG00000113522rs22440125132565533?Asthma27182965[1.077-1.128]1.102EFO_0000270
ENSG00000113522rs27063455132568236AEosinophil percentage of granulocytes27863252[0.067-0.085] unit increase0.07600837EFO_0007996
ENSG00000113522rs27063455132568236ASum eosinophil basophil counts27863252[0.067-0.085] unit increase0.0760465EFO_0005090|EFO_0004842
ENSG00000113522rs27063455132568236AEosinophil percentage of white cells27863252[0.068-0.086] unit increase0.07707069EFO_0007991
ENSG00000113522rs27063455132568236AEosinophil counts27863252[0.071-0.089] unit increase0.0799056EFO_0004842
ENSG00000113522rs757654535132614533?Eosinophil counts30595370EFO_0004842
ENSG00000113522rs27063625132589495?Asthma29785011[0.078-0.142] unit increase0.109751EFO_0000270
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000113522's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000014single-stranded DNA endodeoxyribonuclease activity21873635.IBAFunction
GO:0000014single-stranded DNA endodeoxyribonuclease activity9705271.IDAFunction
GO:0000019regulation of mitotic recombination8756642.IDAProcess
GO:0000722telomere maintenance via recombination21873635.IBAProcess
GO:0000723telomere maintenance10888888.TASProcess
GO:0000724double-strand break repair via homologous recombination-TASProcess
GO:0000729DNA double-strand break processing-TASProcess
GO:0000784nuclear chromosome, telomeric region19135898.HDAComponent
GO:0000784nuclear chromosome, telomeric region21873635.IBAComponent
GO:0000784nuclear chromosome, telomeric region10888888.IDAComponent
GO:0000784nuclear chromosome, telomeric region24270157.IDAComponent
GO:0000790nuclear chromatin21873635.IBAComponent
GO:0000794condensed nuclear chromosome21873635.IBAComponent
GO:0003677DNA binding15790808.IDAFunction
GO:0003691double-stranded telomeric DNA binding21873635.IBAFunction
GO:0004003ATP-dependent DNA helicase activity21873635.IBAFunction
GO:0004003ATP-dependent DNA helicase activity15790808.IMPFunction
GO:0004017adenylate kinase activity21873635.IBAFunction
GO:0005515protein binding11096100.18716619.24534091.24651726.27568553.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0006260DNA replication-TASProcess
GO:0006281DNA repair9705271.IDAProcess
GO:0006302double-strand break repair9590181.IMPProcess
GO:0006303double-strand break repair via nonhomologous end joining-TASProcess
GO:0006310DNA recombination9705271.IDAProcess
GO:0006974cellular response to DNA damage stimulus17500065.IDAProcess
GO:0007004telomere maintenance via telomerase21873635.IBAProcess
GO:0007004telomere maintenance via telomerase9705271.IDAProcess
GO:0007131reciprocal meiotic recombination8756642.TASProcess
GO:00084083'-5' exonuclease activity21873635.IBAFunction
GO:00084083'-5' exonuclease activity9705271.IDAFunction
GO:0016020membrane19946888.HDAComponent
GO:0016032viral process-IEAProcess
GO:0016233telomere capping21873635.IBAProcess
GO:0030674protein binding, bridging12152085.IDAFunction
GO:0030870Mre11 complex21873635.IBAComponent
GO:0030870Mre11 complex9590181.19151086.IDAComponent
GO:0030870Mre11 complex27918544.TASComponent
GO:0031860telomeric 3' overhang formation16374507.IMPProcess
GO:0031954positive regulation of protein autophosphorylation15790808.IDAProcess
GO:0032206positive regulation of telomere maintenance16374507.IMPProcess
GO:0032508DNA duplex unwinding21873635.IBAProcess
GO:0032508DNA duplex unwinding15790808.IMPProcess
GO:0033674positive regulation of kinase activity15790808.IDAProcess
GO:0035861site of double-strand break21873635.IBAComponent
GO:0035861site of double-strand break15916964.IDAComponent
GO:0043047single-stranded telomeric DNA binding21873635.IBAFunction
GO:0046872metal ion binding-IEAFunction
GO:0046940nucleoside monophosphate phosphorylation-IEAProcess
GO:0051880G-quadruplex DNA binding21873635.IBAFunction
GO:0070192chromosome organization involved in meiotic cell cycle21873635.IBAProcess
GO:0090305nucleic acid phosphodiester bond hydrolysis-IEAProcess
GO:1901796regulation of signal transduction by p53 class mediator-TASProcess
GO:1904354negative regulation of telomere capping17694070.IDAProcess

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
17932350Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex.Cancer Epidemiol Biomarkers Prev2007 OctHsu HM-
25528023INPP4B and RAD50 have an interactive effect on survival after breast cancer.Breast Cancer Res Treat2015 JanDai Xdoi: 10.1007/s10549-014-3241-y
24894818Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.Breast Cancer Res2014 Jun 3Damiola Fdoi: 10.1186/bcr3669.
24079363The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers.Mol Cancer2013 Sep 30Zi??kowska-Suchanek Idoi: 10.1186/1476-4598-12-113.
18830935RAD50/MRE11/NBS1 proteins in relation to tumour development and prognosis in patients with microsatellite stable colorectal cancer.Histol Histopathol2008 DecGao Jdoi: 10.14670/HH-23.1495.
19190165Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population.Cancer Epidemiol Biomarkers Prev2009 FebUhrhammer Ndoi: 10.1158/1055-9965.EPI-08-0971
27798884High Expression of MRE11-RAD50-NBS1 Is Associated with Poor Prognosis and Chemoresistance in Gastric Cancer.Anticancer Res2016 OctAltan B-
21356067Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.Breast Cancer Res2011 Feb 28Kuusisto KMdoi: 10.1186/bcr2832.
20571869RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.Breast Cancer Res Treat2010 SepMosor Mdoi: 10.1007/s10549-010-0992-y
16474176RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.Carcinogenesis2006 AugHeikkinen K-
26824983Genetic instability in the RAD51 and BRCA1 regions in breast cancer.Cell Mol Biol Lett2007Nowacka-Zawisza M-
19904603Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer.Breast Cancer Res Treat2010 MayCao AYdoi: 10.1007/s10549-009-0629-1
20682289Differential regulation of MRN (Mre11-Rad50-Nbs1) complex subunits and telomerase activity in cancer cells.Biochem Biophys Res Commun2010 Sep 3Kavitha CVdoi: 10.1016/j.bbrc.2010.07.117
21898661Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.Hum Mutat2012 JanBrooks JDdoi: 10.1002/humu.21604
24934408Synthetic lethality in ATM-deficient RAD50-mutant tumors underlies outlier response to cancer therapy.Cancer Discov2014 SepAl-Ahmadie Hdoi: 10.1158/2159-8290.CD-14-0380
21811815RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.Breast Cancer Res Treat2012 MayHe Mdoi: 10.1007/s10549-011-1700-2
24642965RAD50 targeting impairs DNA damage response and sensitizes human breast cancer cells to cisplatin therapy.Cancer Biol Ther2014 Jun 1Flores-P??rez Adoi: 10.4161/cbt.28551
19383352Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.Mol Oncol2008 DecBartkova Jdoi: 10.1016/j.molonc.2008.09.007
28073364Lack of MRE11-RAD50-NBS1 (MRN) complex detection occurs frequently in low-grade epithelial ovarian cancer.BMC Cancer2017 Jan 10Brandt Sdoi: 10.1186/s12885-016-3026-2.
30176843Overexpression of the MRE11-RAD50-NBS1 (MRN) complex in rectal cancer correlates with poor response to neoadjuvant radiotherapy and prognosis.BMC Cancer2018 Sep 3Ho Vdoi: 10.1186/s12885-018-4776-9.
29726012RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients.Int J Cancer2018 Oct 15Fan Cdoi: 10.1002/ijc.31579

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr5132592030SilentnovelL597L0.37
ACCchr5132604964Missense_MutationnovelS895P0.2
BLCAchr5132595658Missense_MutationnovelQ685H0.19
BLCAchr5132594886Missense_MutationnovelS604F0.24
BLCAchr5132575786Missense_MutationnovelE75Q0.09
BLCAchr5132638172Silentrs759971562L1189L0.38
BLCAchr5132579419Missense_MutationnovelF156L0.05
BLCAchr5132587580Missense_MutationnovelE259Q0.11
BLCAchr51325573105'UTRnovel0.14
BLCAchr5132638134Missense_MutationnovelD1177H0.66
BLCAchr5132559359Missense_Mutationrs370769989D69N0.21
BLCAchr5132579397Frame_Shift_DelnovelA149Gfs*100.19
BLCAchr5132579384Missense_Mutationrs534015582G145R0.34
BLCAchr5132595617Nonsense_Mutationrs142947311Q672*0.08
BRCAchr5132640787Nonsense_MutationnovelA1246Pfs*30.05
BRCAchr5132588737Missense_MutationnovelD368H0.06
BRCAchr5132589715Missense_MutationNAE444K0.19
BRCAchr5132588719Missense_MutationNAE362Q0.27
BRCAchr5132595662Missense_MutationnovelV687F0.19
BRCAchr51326432693'UTRnovel0.19
BRCAchr5132609348SilentnovelK996K0.06
BRCAchr5132575784In_Frame_DelNAE75del0.42
BRCAchr5132604825SilentNAL848L0.29
BRCAchr5132587678Missense_MutationNAE291D0.2
BRCAchr5132618111Missense_Mutationrs769003601R1069I0.26
BRCAchr5132609379Frame_Shift_InsnovelD1007Vfs*230.11
BRCAchr5132591375Missense_Mutationrs200548021R535H0.52
BRCAchr5132591261Missense_MutationNAV497A0.35
BRCAchr51325571985'UTRnovel0.17
BRCAchr5132609197Silentrs148269640D970D0.27
CESCchr51325571985'UTRnovel0.2
CESCchr5132640734SilentNAI1227I0.04
CESCchr5132580030In_Frame_InsnovelI240_V241insM0.1
CESCchr5132580032Frame_Shift_InsnovelK242Yfs*140.1
CESCchr5132591375Missense_Mutationrs200548021R535H0.38
CESCchr5132642265SilentnovelS1280S0.07
CESCchr5132580057SilentnovelD249D0.14
CESCchr5132557447SilentNAG41G0.17
CESCchr5132588055SilentnovelL339L0.47
CESCchr5132579423Missense_MutationnovelH158Y0.61
CHOLchr5132595742SilentnovelK713K0.52
COADchr5132609150Missense_MutationNAH955N0.37
COADchr5132579495Missense_MutationnovelA182T0.31
COADchr5132616063Nonsense_MutationNAE1033*0.36
COADchr5132640684Missense_MutationNAL1211F0.14
COADchr5132595780Missense_Mutationrs28903092R726H0.35
COADchr5132642251Missense_MutationNAL1276F0.08
COADchr5132579487Frame_Shift_DelnovelS181Qfs*90.48
COADchr5132642260Missense_Mutationrs786201810R1279C0.9
COADchr5132588805SilentNAE390E0.35
COADchr5132559351Missense_MutationNAF66S0.36
COADchr5132608690Frame_Shift_Delrs758740142N934Ifs*60.26
COADchr51326429683'UTRnovel0.46
COADchr5132557342Missense_MutationnovelK6N0.25
COADchr5132588821Missense_MutationNAF396L0.24
COADchr5132591273Missense_MutationNAK501R0.11
COADchr5132618111Missense_Mutationrs769003601R1069I0.25
COADchr5132588789Missense_Mutationrs150030986R385H0.23
COADchr5132589709Frame_Shift_InsnovelI442Kfs*70.03
COADchr5132595719Nonsense_Mutationrs772468452R706*0.11
COADchr5132595760Frame_Shift_DelNAK722Gfs*50.35
ESCAchr5132637192Missense_Mutationrs587780156R1156H0.07
ESCAchr5132608690Frame_Shift_Delrs758740142N934Ifs*60.46
GBMchr5132591404Missense_MutationNAK545E0.36
GBMchr5132588847Missense_MutationnovelQ404H0.18
GBMchr5132595765Missense_MutationnovelK721T0.44
GBMchr5132603997SilentnovelV825V0.07
GBMchr5132588055SilentNAL339L0.08
HNSCchr5132595777Missense_MutationnovelR725L0.1
HNSCchr5132618155Nonsense_Mutationrs765931959E1084*0.14
HNSCchr5132642223Frame_Shift_InsnovelV1274Dfs*40.09
HNSCchr5132595719Nonsense_Mutationrs772468452R706*0.2
HNSCchr5132604983Missense_MutationnovelL901S0.35
HNSCchr5132638107Missense_MutationnovelD1168N0.15
HNSCchr5132594951Missense_Mutationrs763432574E626K0.17
HNSCchr5132595781In_Frame_DelnovelD727_P734del0.06
HNSCchr5132580043Missense_MutationnovelE245K0.32
HNSCchr51325572705'UTRnovel0.12
HNSCchr5132618247SilentnovelT1114T0.31
HNSCchr5132575813SilentnovelL84L0.19
HNSCchr5132579455SilentnovelE168E0.82
HNSCchr5132618183Missense_Mutationrs781612348R1093Q0.13
HNSCchr5132587642Missense_MutationnovelK279N0.15
KIRCchr5132603366SilentNAN758N0.07
KIRCchr5132591362Frame_Shift_DelnovelH531Qfs*100.24
KIRCchr5132594945Missense_MutationNAS624G0.51
KIRPchr51326428313'UTRnovel0.67
KIRPchr5132618127SilentNAA1074A0.46
KIRPchr5132638150Missense_MutationnovelY1182S0.36
LAMLchr5132592035Splice_SitenovelX598_splice0.08
LAMLchr5132587602Missense_MutationnovelM266K0.09
LAMLchr5132557371Missense_MutationNAG16E0.11
LGGchr5132579981Missense_Mutationrs28903088R224H0.32
LGGchr5132604845Missense_Mutationrs751531030D855G0.29
LGGchr5132618134Nonsense_Mutationrs368980595R1077*0.33
LGGchr5132595022SilentNAI649I0.14
LGGchr5132637194Missense_MutationnovelG1157R0.39
LGGchr5132557437Missense_Mutationrs750480943N38S0.42
LIHCchr5132618197Missense_Mutationrs750947088R1098W0.12
LIHCchr5132603481Missense_MutationnovelR797G0.35
LIHCchr5132603424Missense_MutationnovelI778V0.28
LIHCchr5132557331Missense_MutationnovelR3G0.28
LUADchr5132595719Missense_MutationnovelR706G0.63
LUADchr5132603357Missense_MutationnovelQ755H0.08
LUADchr5132559359Missense_MutationNAD69Y0.25
LUADchr5132557342Missense_MutationnovelK6N0.24
LUADchr5132587690Frame_Shift_InsnovelV296Cfs*60.13
LUADchr5132587641Missense_MutationnovelK279T0.2
LUADchr5132616098Frame_Shift_InsnovelM1045Sfs*110.14
LUADchr5132616100Frame_Shift_DelnovelM1045Rfs*110.14
LUADchr51325572415'UTRnovel0.08
LUADchr5132580029Frame_Shift_InsnovelV241Mfs*120.06
LUADchr5132580031Frame_Shift_InsnovelV241Gfs*140.06
LUADchr5132579443Missense_MutationnovelW164C0.3
LUADchr5132638175SilentNAK1190K0.35
LUADchr5132642317Missense_MutationNAE1298Q0.2
LUADchr5132587638Missense_MutationnovelR278L0.11
LUADchr5132588055SilentNAL339L0.28
LUADchr5132559359Missense_MutationNAD69Y0.7
LUSCchr5132609123Missense_MutationnovelD946Y0.37
LUSCchr5132575822Missense_Mutationrs143802516R87C0.37
LUSCchr5132589725Missense_Mutationrs786201804S447L0.35
LUSCchr5132591389In_Frame_InsnovelM540delinsNLPNFV0.13
LUSCchr5132591348Missense_MutationnovelE526V0.3
LUSCchr5132609134Missense_MutationnovelE949D0.44
LUSCchr5132618116Missense_MutationNAH1071Y0.58
LUSCchr5132579413SilentNAV154V0.31
LUSCchr5132618120Missense_Mutationrs761533807N1072S0.75
LUSCchr5132591933SilentnovelT564T0.47
LUSCchr5132640804Missense_MutationnovelE1251Q0.11
MESOchr5132579999Missense_MutationnovelK230R0.11
MESOchr5132588057Missense_Mutationrs776934742N340S0.19
OVchr5132557400Missense_MutationnovelT26A0.1
OVchr5132589678Missense_MutationNAE431D0.11
OVchr51326428233'UTRnovel0.67
OVchr5132595728Missense_MutationnovelP709T0.04
OVchr5132640796Missense_MutationNAA1248G0.93
PAADchr5132618294Splice_SitenovelX1130_splice0.06
PCPGchr5132595613SilentnovelI670I0.38
PRADchr5132591375Missense_Mutationrs200548021R535H0.13
READchr5132587638Missense_Mutationrs587782307R278Q0.27
READchr5132609330Silentrs375264148C990C0.28
READchr5132618183Missense_Mutationrs781612348R1093Q0.23
READchr5132640730Missense_MutationnovelG1226V0.57
READchr5132575893Missense_MutationNAE110D0.2
READchr5132587678Missense_MutationNAE291D0.2
READchr5132557385Missense_MutationnovelD21Y0.45
READchr5132579436Missense_MutationnovelS162Y0.35
READchr5132579887Missense_Mutationrs28903087R193W0.43
READchr5132589822Missense_MutationnovelQ479H0.42
READchr5132618164Missense_MutationNAH1087N0.09
SARCchr5132591992Missense_MutationnovelS584L0.5
SARCchr5132638203Nonsense_Mutationrs750586158R1200*0.45
SARCchr5132591399Missense_Mutationrs766041105K543R0.39
SARCchr5132609141Frame_Shift_DelnovelN953Ifs*60.08
SKCMchr5132608637Missense_MutationnovelP914L0.25
SKCMchr5132640762Missense_MutationnovelL1237F0.57
SKCMchr5132595589Silentrs777890524A662A0.43
SKCMchr5132587930Nonsense_MutationNAQ298*0.33
SKCMchr5132588689Missense_MutationNAR352C0.57
SKCMchr5132640720Missense_MutationNAL1223F0.31
SKCMchr5132575822Missense_Mutationrs143802516R87C0.31
SKCMchr5132592026Frame_Shift_InsnovelK596Efs*120.13
SKCMchr5132580059Missense_MutationNAP250L0.32
SKCMchr51325573035'UTRnovel0.25
SKCMchr5132588689Missense_MutationNAR352C0.54
SKCMchr5132604970Missense_MutationNAE897K0.35
SKCMchr5132640798Missense_MutationnovelL1249M0.38
SKCMchr5132595014Missense_MutationnovelE647K0.12
SKCMchr5132579332SilentNAV127V0.45
STADchr5132595779Missense_Mutationrs753002904R726C0.26
STADchr5132579367Frame_Shift_DelnovelM140*0.32
STADchr5132618134Nonsense_Mutationrs368980595R1077*0.27
STADchr5132589823Missense_MutationnovelE480K0.42
STADchr51325572935'UTRNA0.08
STADchr5132640773SilentNAE1240E0.07
STADchr5132608690Frame_Shift_Delrs758740142N934Ifs*60.5
STADchr5132637134Missense_MutationNAS1137G0.25
STADchr5132575795Missense_MutationNAV78M0.16
STADchr5132591958Frame_Shift_DelnovelK574Nfs*240.09
STADchr5132595646SilentNAC681C0.45
STADchr5132603432SilentNAP780P0.43
STADchr5132638159Missense_Mutationrs747603489R1185Q0.27
THCAchr5132618259Frame_Shift_InsnovelK1119Cfs*160.05
UCECchr5132604931Missense_Mutationrs755939251R884C0.34
UCECchr5132640716Missense_MutationnovelF1221L0.27
UCECchr51326431563'UTRnovel0.21
UCECchr51326433883'UTRnovel0.18
UCECchr51325573105'UTRnovel0.4
UCECchr5132591914Missense_MutationNAR558M0.24
UCECchr5132618275Missense_MutationNAY1124D0.4
UCECchr5132618205SilentnovelA1100A0.9
UCECchr5132579317Splice_Regionrs587782384K122K0.08
UCECchr5132595720Missense_Mutationrs773566981R706Q0.37
UCECchr5132603472Missense_MutationnovelI794L0.28
UCECchr5132588839Missense_MutationnovelE402Q0.15
UCECchr5132579486Frame_Shift_InsnovelS181Ffs*70.49
UCECchr51326433933'UTRrs5365671920.27
UCECchr5132575822Missense_Mutationrs143802516R87C0.45
UCECchr5132557393Missense_MutationnovelQ23H0.44
UCECchr5132604829Missense_Mutationrs181961360R850C0.43
UCECchr5132587571Missense_MutationnovelK256Q0.2
UCECchr5132588818Missense_MutationnovelN395H0.24
UCECchr5132618234Missense_MutationnovelV1110G0.2
UCECchr51326436033'UTRnovel0.21
UCECchr5132557328Missense_MutationnovelS2P0.06
UCECchr5132603932Missense_MutationNAD804Y0.33
UCECchr5132618125Missense_MutationNAA1074T0.28
UCECchr5132603379In_Frame_InsnovelR763delinsLISYSPTVQNLLC0.08
UCECchr5132603941SilentNAR807R0.44
UCECchr5132575865Missense_MutationNAV101A0.26
UCECchr5132579923Nonsense_MutationNAE205*0.12
UCECchr5132640694Missense_Mutationrs765290694R1214H0.42
UCECchr5132579400Missense_MutationNAV150A0.22
UCECchr5132557405SilentnovelF27F0.33
UCECchr5132595719Nonsense_Mutationrs772468452R706*0.42
UCECchr5132604931Missense_Mutationrs755939251R884C0.41
UCECchr5132618111Missense_Mutationrs769003601R1069I0.46
UCECchr5132640787Nonsense_MutationnovelA1246Pfs*30.05
UCECchr5132580003Missense_MutationnovelE231D0.2
UCECchr5132591997Nonsense_MutationnovelE586*0.31
UCECchr51326429313'UTRnovel0.38
UCECchr51326430363'UTRnovel0.13
UCECchr51326431893'UTRnovel0.33
UCECchr5132579487Frame_Shift_DelnovelS181Qfs*90.39
UCECchr5132579896Missense_Mutationrs769853458R196C0.36
UCECchr5132579429Nonsense_MutationnovelE160*0.19
UCECchr5132589690Missense_MutationnovelK435N0.44
UCECchr5132618113Missense_MutationnovelN1070H0.46
UCECchr5132591251Missense_MutationnovelN494D0.39
UCECchr5132609141Frame_Shift_DelnovelN953Ifs*60.47
UCECchr5132637173Missense_MutationnovelL1150M0.35
UCECchr5132609165Missense_MutationnovelD960Y0.59
UCECchr5132616092SilentnovelL1042L0.51
UCECchr5132618183Missense_Mutationrs781612348R1093Q0.5
UCECchr5132640784Missense_MutationnovelS1244Y0.41
UCECchr5132559359Missense_Mutationrs370769989D69N0.43
UCECchr5132608690Frame_Shift_Delrs758740142N934Ifs*60.59
UCECchr5132618141Missense_MutationNAK1079T0.21
UCECchr5132557342Missense_MutationnovelK6N0.21
UCECchr5132587638Missense_Mutationrs587782307R278Q0.48
UCECchr5132588729Missense_Mutationrs146370443R365Q0.32
UCECchr51326431063'UTRrs1495083780.41
UCECchr5132604880Missense_Mutationrs753186320T867A0.19
UCECchr5132588711Missense_MutationnovelR359H0.24
UCECchr5132594935Missense_MutationnovelE620D0.25
UCECchr5132609173Missense_MutationnovelE962D0.22
UCECchr5132609343Nonsense_MutationnovelE995*0.15
UCECchr5132618197Missense_Mutationrs750947088R1098W0.14
UCECchr5132640784Missense_MutationnovelS1244Y0.17
UCECchr5132638158Nonsense_Mutationrs778555849R1185*0.53
UCECchr5132595650Missense_Mutationrs367925756V683I0.12
UCECchr5132638116Missense_MutationNAE1171K0.43
UCECchr5132587678Missense_MutationNAE291D0.34
UCECchr5132603932Missense_MutationNAD804Y0.47
UCECchr51326433183'UTRnovel0.23
UCECchr51326435033'UTRnovel0.53
UCECchr5132640693Missense_Mutationrs546479838R1214C0.58
UCECchr5132603932Missense_MutationNAD804Y0.38
UCECchr5132638090Missense_MutationnovelY1162C0.32
UCECchr51326434473'UTRnovel0.42
UCECchr5132559359Missense_Mutationrs370769989D69N0.29
UCECchr5132640801Missense_MutationnovelV1250I0.49
UCECchr5132642264Missense_MutationnovelS1280Y0.15
UCECchr5132580057SilentnovelD249D0.04
UCECchr5132591910Missense_MutationNAS557P0.28
UCECchr5132591911Missense_MutationNAS557Y0.24
UCECchr5132618182Nonsense_Mutationrs121912628R1093*0.33
UCECchr5132642305Missense_Mutationrs587782339D1294N0.24
UCECchr5132589685Missense_MutationnovelD434Y0.19
UCECchr5132638101Missense_Mutationrs587782577R1166W0.4
UCECchr5132616126Frame_Shift_InsnovelK1054Rfs*60.08
UCECchr5132579381Missense_MutationnovelL144I0.06
UCECchr5132579414Frame_Shift_InsnovelC157Lfs*70.27
UCECchr5132603363SilentnovelV757V0.31
UCECchr5132618197Missense_Mutationrs750947088R1098W0.4
UCECchr5132618091Missense_MutationNAE1062D0.18
UCECchr5132603400Nonsense_MutationNAE770*0.27
UCECchr5132575891Nonsense_MutationnovelE110*0.37
UCECchr51325572285'UTRnovel0.29
UCECchr5132557441SilentnovelG39G0.25
UCECchr5132603480Missense_MutationnovelE796D0.2
UCECchr5132604035Missense_MutationnovelK838T0.55
UCECchr5132616040Missense_MutationnovelR1025I0.31
UCECchr5132618209Missense_MutationnovelE1102K0.3
UCECchr5132603399SilentnovelE769E0.18
UCECchr5132595760Frame_Shift_DelNAK722Gfs*50.53
UCECchr5132587596Missense_MutationnovelK264T0.35
UCECchr5132591299Frame_Shift_InsnovelA512Sfs*90.36
UCECchr5132618182Nonsense_Mutationrs121912628R1093*0.52
UCECchr5132642191Missense_Mutationrs561655417R1256C0.42
UCECchr5132575822Missense_Mutationrs143802516R87C0.37
UCECchr5132588689Missense_MutationNAR352C0.34
UCECchr5132608690Frame_Shift_Delrs758740142N934Ifs*60.47

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
KIRPDEL0.04170.11554
LAMLDEL0.0891.2971e-07
LUADDEL0.30237.4776e-05
LUSCDEL0.64470.002071
MESODEL0.14940.20184
PRADAMP0.02440.16448
STADDEL0.27442.8835e-08
THCAAMP0.03610.075436
THCADEL00.23456

Survival Analysis
CancerP-value Q-value
KIRC0.00018

Kaplan-Meier Survival Analysis

MESO0.00036

Kaplan-Meier Survival Analysis

ACC0.023

Kaplan-Meier Survival Analysis

SKCM0.008

Kaplan-Meier Survival Analysis

BRCA0.04

Kaplan-Meier Survival Analysis

CESC0.0016

Kaplan-Meier Survival Analysis

READ0.0056

Kaplan-Meier Survival Analysis

LIHC0.028

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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