EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
25514464A novel antisense long noncoding RNA regulates the expression of MDC1 in bladder cancer.Oncotarget2015 Jan 1Xue Y-
25934801MDC1 functionally identified as an androgen receptor co-activator participates in suppression of prostate cancer.Nucleic Acids Res2015 May 26Wang Cdoi: 10.1093/nar/gkv394
26247734Silencing NFBD1/MDC1 enhances the radiosensitivity of human nasopharyngeal cancer CNE1 cells and results in tumor growth inhibition.Cell Death Dis2015 Aug 6Wang Zdoi: 10.1038/cddis.2015.214.
18635967Differential regulation of centrosome integrity by DNA damage response proteins.Cell Cycle2008 Jul 15Rai R-
12551934NFBD1, like 53BP1, is an early and redundant transducer mediating Chk2 phosphorylation in response to DNA damage.J Biol Chem2003 Mar 14Peng A-
21853275NFBD1/MDC1 is a protein of oncogenic potential in human cervical cancer.Mol Cell Biochem2012 JanYuan Cdoi: 10.1007/s11010-011-1027-7
20364298Growth inhibition, morphology change, and cell cycle alterations in NFBD1-depleted human esophageal cancer cells.Mol Cell Biochem2010 SepYang Zdoi: 10.1007/s11010-010-0460-3
25198518A Newfound association between MDC1 functional polymorphism and lung cancer risk in Chinese.PLoS One2014 Sep 8Wang Bdoi: 10.1371/journal.pone.0106794
20521098Mediator of DNA damage checkpoint protein 1 (MDC1) expression as a prognostic marker for nodal recurrence in early-stage breast cancer patients treated with breast-conserving surgery and radiation therapy.Breast Cancer Res Treat2011 AprPatel ANdoi: 10.1007/s10549-010-0960-6
25592380MDC1 promotes ovarian cancer metastasis by inducing epithelial-mesenchymal transition.Tumour Biol2015 JunLiu Xdoi: 10.1007/s13277-015-3063-5
29545602LRH1 enhances cell resistance to chemotherapy by transcriptionally activating MDC1 expression and attenuating DNA damage in human breast cancer.Oncogene2018 JunWang Sdoi: 10.1038/s41388-018-0193-4

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr630703141Missense_Mutationrs148600920R1943Q0.09
BLCAchr630712906Missense_MutationnovelP346S0.3
BLCAchr630705910SilentNAE1091E0.12
BLCAchr630712910SilentNAV344V0.12
BLCAchr630715172Missense_Mutationrs758314552E2K0.49
BLCAchr630702754Missense_MutationNAE1997K0.07
BLCAchr630708236SilentnovelP781P0.06
BLCAchr630713971Missense_MutationnovelD117N0.23
BLCAchr630707738SilentNAQ947Q0.17
BLCAchr6307003403'UTRnovel0.52
BLCAchr630706056Missense_MutationNAP1043S0.58
BLCAchr630708255Missense_MutationnovelY775C0.09
BLCAchr630707956Missense_MutationnovelD875H0.19
BLCAchr630713294Missense_MutationnovelL216F0.08
BLCAchr630704188Frame_Shift_DelnovelT1666Qfs*100.22
BLCAchr630707693SilentnovelA962A0.17
BLCAchr630703867SilentnovelE1772E0.37
BLCAchr630713987SilentNAV111V0.19
BLCAchr630703527Frame_Shift_InsnovelT1858Nfs*300.58
BLCAchr630704369Missense_MutationNAS1605C0.5
BLCAchr630706071Missense_MutationNAL1038V0.53
BLCAchr630707450SilentnovelL1006L0.09
BLCAchr630704810Missense_MutationNAS1458C0.22
BLCAchr630704777Missense_MutationNAP1469H0.45
BLCAchr630706096Splice_Regionrs149848514G1029G0.46
BRCAchr630704005Silentrs746237964A1726A0.04
BRCAchr630705507Missense_MutationNAQ1226E0.04
BRCAchr630705898SilentNAS1095S0.26
BRCAchr630703925Nonsense_MutationNAS1753*0.12
BRCAchr630711945Missense_MutationnovelA666V0.08
BRCAchr630711948Missense_MutationNAG665E0.54
BRCAchr630704205Missense_MutationNAL1660F0.56
BRCAchr630705396Missense_MutationNAE1263Q0.4
BRCAchr630704778Missense_MutationNAP1469S0.14
CESCchr630712978Nonsense_MutationnovelQ322*0.24
CESCchr6307004123'UTRnovel0.6
CESCchr630713915SilentNAV135V0.32
CESCchr630713158Nonsense_MutationNAQ262*0.39
CESCchr630704400Missense_Mutationrs762832250R1595W0.17
CESCchr630703659Missense_MutationNAE1842K0.18
CESCchr630708165Missense_Mutationrs745970640R805K0.5
CESCchr630712813Missense_MutationnovelD377H0.58
CESCchr630713706Missense_MutationnovelE177K0.36
CESCchr630712662Nonsense_MutationNAW427*0.47
CESCchr630703464Missense_Mutationrs763451532R1879H0.37
CESCchr630708266SilentnovelH771H0.34
CESCchr630712997SilentnovelE315E0.34
CESCchr630712198Missense_MutationnovelE582Q0.17
CESCchr630712729Missense_MutationnovelD405Y0.42
CESCchr630713913Missense_MutationNAS136C0.14
CESCchr630704210Missense_MutationnovelS1658F0.44
CESCchr630707637Missense_MutationNAS981L0.36
CESCchr630713238Nonsense_MutationnovelS235*0.41
CESCchr630704832Missense_MutationNAT1451A0.25
CESCchr630705384Missense_MutationNAQ1267E0.11
COADchr630713686Frame_Shift_DelnovelK183Nfs*90.26
COADchr6307003363'UTRnovel0.35
COADchr630703532Silentrs745466962V1856V0.27
COADchr630705534Nonsense_MutationNAR1217*0.44
COADchr630712084Missense_MutationNAA620T0.29
COADchr630712031SilentNAD637D0.36
COADchr630705070SilentNAP1371P0.15
COADchr630705153Missense_MutationNAP1344T0.3
COADchr630705274Frame_Shift_DelNAK1304Sfs*570.38
COADchr630713685Frame_Shift_InsNAS184Ifs*140.32
COADchr630704906Missense_MutationNAP1426H0.3
COADchr630712764Missense_MutationnovelK393R0.06
COADchr630704621Missense_Mutationrs753841715R1521Q0.42
COADchr630707456Splice_SitenovelX1005_splice0.04
COADchr630713976Missense_MutationNAL115P0.07
COADchr630705015Missense_Mutationrs144566920R1390W0.1
COADchr630712026Missense_MutationNAP639L0.22
COADchr630705895SilentNAS1096S0.21
COADchr630703986Missense_Mutationrs747463459L1733F0.33
COADchr630708140SilentNAV813V0.36
COADchr630703472Missense_Mutationrs2239885I1876M0.2
COADchr630708001Nonsense_MutationNAE860*0.2
COADchr630704044SilentNAE1713E0.4
COADchr630711718Missense_MutationNAD693Y0.37
ESCAchr630705893In_Frame_DelnovelS1096_E1097del0.18
ESCAchr630708220Missense_Mutationrs148637924G787R0.5
ESCAchr630703810Silentrs557483176V1791V0.35
ESCAchr630712254Missense_MutationnovelL563H0.59
ESCAchr630704485Missense_MutationnovelK1566N0.38
ESCAchr630712071Missense_Mutationrs746258696G624A0.35
ESCAchr630712765Missense_MutationnovelK393E0.09
ESCAchr630712278Missense_MutationnovelA555V0.2
GBMchr630712324Missense_MutationnovelK540Q0.09
GBMchr630703747Missense_MutationNAK1812N0.46
GBMchr630705612Nonsense_MutationnovelK1191*0.06
GBMchr630713151Nonsense_MutationnovelL264*0.09
GBMchr630704374SilentnovelR1603R0.12
GBMchr630712048Missense_MutationnovelA632P0.08
GBMchr630703980Missense_MutationnovelA1735T0.28
GBMchr630708203Missense_MutationnovelE792D0.57
GBMchr630712878Missense_MutationnovelG355E0.22
GBMchr630706096Splice_Regionrs149848514G1029G0.39
GBMchr630712303Missense_MutationnovelG547R0.05
GBMchr630715094Missense_Mutationrs763377150V28M0.19
GBMchr630707944Missense_MutationNAE879Q0.29
GBMchr630712724Silentrs764506177D406D0.09
HNSCchr630704542SilentnovelV1547V0.19
HNSCchr630705425Missense_MutationnovelS1253Y0.19
HNSCchr630713956Missense_MutationnovelL122F0.72
HNSCchr630714053SilentNAL89L0.79
HNSCchr630703650Missense_Mutationrs780332704D1845N0.28
HNSCchr630706042SilentnovelA1047A0.43
HNSCchr630712882Missense_MutationnovelH354Y0.14
HNSCchr630707795Silentrs773539522C928C0.24
HNSCchr630705660Missense_MutationnovelD1175Y0.31
HNSCchr630703955Missense_MutationnovelS1743C0.22
HNSCchr630703885SilentnovelS1766S0.58
HNSCchr630712567Missense_Mutationrs777255794E459K0.22
HNSCchr630713919Missense_MutationnovelD134V0.25
HNSCchr630704864Missense_MutationnovelS1440F0.05
HNSCchr630704993Missense_MutationnovelN1397I0.28
HNSCchr630713979Missense_Mutationrs61748587R114H0.29
HNSCchr630706017Nonsense_MutationnovelQ1056*0.16
HNSCchr630700593Missense_MutationnovelH2048N0.07
KICHchr630704367Missense_MutationnovelV1606F0.61
KIRCchr630712373SilentNAT523T0.24
KIRCchr630713712Missense_MutationnovelL175V0.29
KIRPchr630713057SilentnovelP295P0.45
KIRPchr630712216Missense_MutationNAD576N0.21
KIRPchr630713236Missense_MutationNAA236S0.06
KIRPchr630713897SilentnovelS141S0.43
LAMLchr630712175SilentnovelA589A0.08
LAMLchr630707788Missense_MutationnovelA931T0.05
LAMLchr630704189Missense_MutationnovelP1665L0.04
LAMLchr630713920Frame_Shift_DelnovelD134Mfs*120.12
LGGchr630705989Missense_MutationnovelP1065L0.43
LGGchr630704744Missense_MutationnovelR1480I0.08
LGGchr630707711Missense_MutationnovelQ956H0.07
LGGchr630712104Missense_MutationnovelA613V0.16
LGGchr630712397SilentnovelA515A0.42
LGGchr630712889Missense_MutationnovelK351N0.39
LGGchr630700540SilentnovelL2065L0.36
LGGchr630711671SilentNAL708L0.05
LIHCchr6307002273'UTRnovel0.24
LIHCchr630700503Frame_Shift_InsnovelA2078Rfs*590.06
LIHCchr630700543SilentnovelF2064F0.27
LIHCchr630705637SilentNAP1182P0.32
LIHCchr630703909Missense_MutationNAW1758C0.37
LIHCchr630704797Missense_MutationNAD1462E0.34
LIHCchr630712269Frame_Shift_DelnovelG558Dfs*100.23
LIHCchr630711454Missense_MutationNAP727S0.37
LUADchr630705602Missense_MutationNAS1194C0.21
LUADchr630707770Missense_MutationNAV937L0.29
LUADchr630708161SilentnovelG806G0.08
LUADchr630703537Missense_MutationnovelD1855Y0.05
LUADchr630704427Nonsense_MutationNAQ1586*0.31
LUADchr630703501Missense_MutationnovelD1867N0.05
LUADchr630707799Missense_MutationnovelE927V0.1
LUADchr630715072Missense_Mutationrs372848423H35R0.2
LUADchr630704894Missense_Mutationrs755458710S1430C0.09
LUADchr630711874Missense_MutationnovelD690H0.08
LUADchr630705828Missense_MutationnovelP1119T0.05
LUADchr630707604Missense_MutationnovelG992V0.19
LUADchr630704583Missense_MutationNAA1534S0.18
LUADchr630708358Splice_SiteNAX741_splice0.59
LUADchr630708011Missense_MutationNAK856N0.28
LUADchr630708163Missense_MutationNAG806W0.31
LUADchr630706017Missense_MutationnovelQ1056E0.22
LUADchr630713975SilentnovelL115L0.28
LUADchr630704154Missense_MutationnovelQ1677E0.07
LUADchr630708168Missense_MutationNAG804V0.25
LUADchr630703231Missense_MutationnovelG1913V0.48
LUADchr630704977SilentNAK1402K0.23
LUADchr630711426Missense_MutationNAS736I0.23
LUADchr630712339Missense_MutationNAI535V0.13
LUSCchr630704919Nonsense_MutationnovelQ1422*0.33
LUSCchr630704525Missense_MutationNAS1553F0.16
LUSCchr630703959Missense_MutationnovelC1742R0.29
LUSCchr630712227Missense_Mutationrs749854538P572L0.27
LUSCchr630703900SilentNAV1761V0.05
LUSCchr630704088Missense_MutationnovelE1699Q0.19
LUSCchr630703449Missense_MutationnovelT1884S0.05
LUSCchr630704785SilentNAT1466T0.27
LUSCchr630704810Missense_MutationNAS1458Y0.09
LUSCchr630705772SilentNAV1137V0.11
LUSCchr630704936Missense_MutationNAP1416L0.84
LUSCchr630705088SilentNAS1365S0.31
LUSCchr630712249Frame_Shift_DelnovelV565Yfs*30.11
LUSCchr630705245Missense_MutationnovelR1313K0.22
LUSCchr630703982Missense_MutationNAA1734V0.19
LUSCchr630703184Missense_MutationnovelD1929N0.42
LUSCchr630707394Missense_MutationnovelK1025M0.2
LUSCchr630700594SilentNAP2047P0.06
MESOchr630704331Nonsense_MutationnovelE1618*0.2
OVchr630700603Missense_MutationnovelQ2044H0.06
OVchr630712855Missense_MutationNAA363P0.27
OVchr630714179Missense_MutationnovelF47L0.04
OVchr630704219Missense_MutationNAP1655R0.43
OVchr630712544Missense_MutationnovelN466K0.11
OVchr630712585Missense_MutationnovelS453G0.05
OVchr630712788Missense_MutationnovelA385V0.05
PAADchr6307004323'UTRnovel0.16
PCPGchr630704581SilentnovelA1534A0.15
PCPGchr630712234Missense_MutationnovelA570T0.09
PRADchr630703141Missense_Mutationrs148600920R1943Q0.08
PRADchr630705987Frame_Shift_DelnovelL1066Ffs*500.25
PRADchr630712507Missense_MutationnovelA479T0.38
PRADchr630713040Missense_MutationnovelT301I0.32
READchr630708270Missense_Mutationrs529970009T770M0.43
READchr630703270Missense_MutationNAV1900A0.27
READchr630703730Missense_MutationNAM1818T0.24
READchr6307004323'UTRrs7675002710.49
READchr630704940Missense_Mutationrs200570441E1415K0.41
READchr630704999Missense_MutationNAR1395I0.15
SARCchr630703769Missense_MutationnovelP1805H0.12
SKCMchr630714019SilentNAL101L0.34
SKCMchr630712928SilentnovelI338I0.42
SKCMchr630712567Missense_Mutationrs777255794E459K0.27
SKCMchr630704122Frame_Shift_DelnovelR1685Nfs*120.34
SKCMchr630705072Missense_MutationNAP1371S0.14
SKCMchr630712531Missense_MutationnovelL471F0.26
SKCMchr630704932SilentnovelS1417S0.45
SKCMchr630703215SilentNAG1918G0.24
SKCMchr630711968Silentrs138559048S658S0.33
SKCMchr630702826Missense_MutationNAP1973S0.21
SKCMchr630704807Missense_MutationNAT1459I0.4
SKCMchr630712961Silentrs757177695I327I0.1
SKCMchr630713300SilentNAF214F0.13
SKCMchr630713082Missense_MutationNAV287A0.07
SKCMchr630700571Missense_MutationnovelV2055A0.3
SKCMchr630705803Missense_Mutationrs749393075P1127L0.38
SKCMchr630702576Missense_Mutationrs754632799P2027S0.13
SKCMchr630705953Missense_MutationnovelT1077I0.2
SKCMchr630704910Missense_MutationnovelT1425A0.17
SKCMchr630703833Missense_MutationNAH1784Y0.17
SKCMchr630703687SilentnovelV1832V0.15
SKCMchr630711716Missense_MutationnovelD693E0.06
SKCMchr630712471Missense_MutationNAP491S0.5
SKCMchr630704809SilentNAS1458S0.19
SKCMchr630704055Missense_MutationNAI1710F0.44
SKCMchr630705905Missense_Mutationrs372811207P1093L0.28
SKCMchr630712751SilentnovelS397S0.38
SKCMchr630712752Missense_MutationnovelS397F0.36
SKCMchr630704825Missense_MutationNAP1453L0.48
SKCMchr630708314SilentNAF755F0.24
SKCMchr630707723SilentnovelE952E0.11
SKCMchr630704245SilentnovelS1646S0.43
SKCMchr630704246Missense_MutationnovelS1646F0.42
SKCMchr630708296SilentNAE761E0.44
SKCMchr630703724Missense_MutationNAS1820L0.81
SKCMchr630700578SilentNAL2053L0.06
SKCMchr630705081Missense_MutationNAP1368S0.07
SKCMchr630703198Missense_MutationNAS1924F0.26
SKCMchr630713337Missense_MutationNAS202F0.37
SKCMchr630705768Missense_MutationNAP1139S0.41
SKCMchr630703788Missense_MutationnovelF1799L0.25
SKCMchr630704051Missense_MutationnovelS1711F0.33
SKCMchr630715115Missense_MutationnovelS21R0.17
SKCMchr630715116SilentnovelS20S0.17
SKCMchr630712857Missense_MutationNAG362V0.14
SKCMchr630705898SilentNAS1095S0.33
SKCMchr630713092Missense_MutationnovelP284S0.25
SKCMchr630713654Missense_MutationNAP194L0.58
SKCMchr630711471Missense_MutationnovelA721V0.39
SKCMchr630704076Missense_MutationNAP1703S0.37
SKCMchr630715062Missense_MutationnovelS38R0.21
SKCMchr630715176Splice_Regionnovel0.36
STADchr630712251Missense_MutationnovelV564A0.12
STADchr630712692Missense_Mutationrs771893736A417V0.48
STADchr630705200Missense_MutationNAT1328I0.18
STADchr630714055Missense_MutationNAL89I0.18
STADchr630703228Frame_Shift_DelnovelG1914Efs*570.22
STADchr630705014Missense_Mutationrs747316218R1390Q0.3
STADchr630705894Nonsense_MutationNAE1097*0.2
STADchr630712315Missense_Mutationrs751432651V543M0.28
STADchr630707662Frame_Shift_DelnovelA973Rfs*250.42
STADchr630712827Missense_MutationNAS372T0.35
STADchr630707393In_Frame_DelNAK1025del0.32
STADchr630705487Missense_MutationNAK1232N0.37
STADchr630704252Missense_MutationnovelR1644M0.38
STADchr630705260Missense_Mutationrs201814179R1308Q0.38
STADchr630703731Missense_MutationNAM1818V0.22
STADchr630704443SilentNAP1580P0.16
STADchr630704104Silentrs187724951P1693P0.2
STADchr630708006Missense_MutationNAD858G0.38
STADchr6307002653'UTRnovel0.38
STADchr630703527Missense_MutationNAT1858I0.24
STADchr630704645Missense_Mutationrs148973631R1513Q0.39
STADchr630708298Missense_MutationnovelE761K0.46
STADchr630702795Missense_MutationNAL1983P0.08
STADchr630712993Missense_MutationNAH317Y0.11
STADchr630702829Missense_MutationNAD1972N0.06
STADchr630703171Missense_Mutationrs536243116R1933Q0.18
STADchr630713686Frame_Shift_DelnovelK183Nfs*90.47
STADchr630706046Missense_MutationnovelP1046L0.4
STADchr6307004473'UTRrs7723549790.3
STADchr630707427Missense_MutationNAA1014V0.17
STADchr630712009Missense_MutationNAL645I0.14
STADchr630713251Missense_MutationNAE231K0.4
STADchr630703850Missense_MutationNAL1778R0.36
STADchr630705769SilentNAT1138T0.25
STADchr630704645Missense_Mutationrs148973631R1513Q0.29
STADchr630705948Missense_Mutationrs78556678R1079C0.28
STADchr630704175Missense_Mutationrs200530869V1670I0.15
STADchr630712069Frame_Shift_DelnovelA625Pfs*310.26
STADchr630713325Missense_MutationnovelG206D0.41
THCAchr630703674Frame_Shift_DelnovelV1837Dfs*500.38
UCECchr630705788Missense_MutationnovelS1132C0.16
UCECchr630704008Missense_MutationnovelR1725S0.16
UCECchr630707723Missense_MutationnovelE952D0.19
UCECchr630712258SilentnovelL562L0.49
UCECchr630704676Missense_MutationnovelD1503H0.33
UCECchr630703639Missense_MutationNAE1848D0.34
UCECchr630706079Missense_MutationNAD1035A0.33
UCECchr630708281Missense_MutationnovelQ766H0.06
UCECchr630713188Missense_MutationnovelV252I0.34
UCECchr630704282Missense_Mutationrs770716446T1634I0.25
UCECchr630703913Missense_MutationNAR1757I0.43
UCECchr630703704Missense_MutationnovelP1827S0.17
UCECchr630705491Missense_Mutationrs771197050R1231I0.37
UCECchr630705230Missense_MutationnovelS1318F0.31
UCECchr630706056Missense_MutationNAP1043S0.41
UCECchr630705221Missense_Mutationrs747924943T1321I0.13
UCECchr630712969Missense_MutationnovelG325C0.39
UCECchr630705922Missense_MutationnovelQ1087H0.43
UCECchr630715045Missense_MutationnovelE44A0.48
UCECchr630704879Missense_MutationnovelG1435D0.23
UCECchr630704994Missense_MutationNAN1397H0.45
UCECchr630703751Missense_Mutationrs368708770R1811H0.25
UCECchr630704744Missense_MutationNAR1480K0.23
UCECchr630705772SilentNAV1137V0.23
UCECchr630707575In_Frame_InsnovelS988_R1001dup0.68
UCECchr630713203Nonsense_MutationnovelQ247*0.42
UCECchr630712229Nonsense_MutationnovelW571*0.17
UCECchr630704587Silentrs771369050P1532P0.38
UCECchr630704939Missense_MutationnovelE1415G0.07
UCECchr630705562SilentnovelL1207L0.32
UCECchr630713819Nonsense_MutationnovelS168*0.08
UCECchr630708071Missense_MutationnovelE836D0.41
UCECchr630708124Nonsense_MutationnovelE819*0.4
UCECchr630707688Missense_MutationnovelS964N0.29
UCECchr630714060Missense_MutationnovelP87H0.43
UCECchr630713038Missense_MutationnovelD302Y0.25
UCECchr630705618Nonsense_MutationnovelG1189*0.37
UCECchr630706095Missense_Mutationrs771933981D1030N0.35
UCECchr630705125Missense_Mutationrs768639435S1353N0.41
UCECchr630705523SilentnovelT1220T0.39
UCECchr630712612Nonsense_MutationnovelR444*0.11
UCECchr630712821Missense_MutationnovelA374V0.36
UCECchr630715128Missense_MutationnovelE16D0.35
UCECchr630705484Frame_Shift_InsnovelN1233Kfs*20.27
UCECchr630705755Missense_MutationnovelS1143Y0.12
UCECchr630707661Missense_Mutationrs780670990A973V0.37
UCECchr630712968Missense_MutationnovelG325D0.58
UCECchr630713235Missense_MutationNAA236V0.53
UCECchr630704044SilentNAE1713E0.14
UCECchr630708001Nonsense_MutationNAE860*0.22
UCECchr630703174Missense_Mutationrs761516200R1932H0.24
UCECchr630704586Missense_Mutationrs372525319A1533T0.39
UCECchr630708064SilentnovelL839L0.42
UCECchr630700553Missense_Mutationrs773327966S2061L0.66
UCECchr630708160Missense_MutationNAR807G0.11
UCECchr630707404Missense_MutationnovelA1022T0.09
UCECchr6307002713'UTRnovel0.43
UCECchr630705017Missense_MutationNAS1389Y0.38
UCECchr630707959Missense_MutationnovelS874P0.26
UCECchr630708296Missense_MutationnovelE761D0.42
UCECchr630712981Missense_MutationnovelA321T0.24
UCECchr630704630Missense_MutationnovelR1518I0.39
UCECchr630705326Missense_MutationnovelP1286L0.35
UCECchr630705991Silentrs576365258P1064P0.32
UCECchr630715112Missense_MutationnovelE22K0.42
UCECchr630704806SilentnovelT1459T0.35
UCECchr630705152Frame_Shift_DelnovelP1344Lfs*170.39
UCECchr630705686Missense_MutationNAP1166H0.49
UCECchr630708273Missense_MutationNAD769G0.24
UCECchr630713022Missense_MutationnovelS307N0.05
UCECchr630713806Missense_MutationNAV172I0.18
UCECchr6307003933'UTRnovel0.11
UCECchr630700589Missense_MutationnovelC2049Y0.16
UCECchr630705191Missense_MutationnovelE1331A0.09
UCECchr630705860Missense_MutationNAR1108I0.25
UCECchr630704773Silentrs547516755T1470T0.39
UCECchr630712171Missense_MutationnovelV591L0.26
UCECchr630712489Missense_MutationnovelS485P0.2
UCECchr630712885Missense_MutationnovelF353L0.2
UCECchr630706023Missense_MutationNAN1054D0.38
UCECchr6307004333'UTRrs7732783230.36
UCECchr630705143Missense_MutationnovelT1347I0.38
UCECchr630707630Silentrs553159423P983P0.31
UCECchr630705017Missense_MutationNAS1389Y0.48
UCECchr630704126Missense_Mutationrs758783364S1686Y0.25
UCECchr630705232SilentNAS1317S0.25
UCECchr6307003173'UTRnovel0.22
UCECchr630702829Missense_MutationNAD1972N0.37
UCECchr630704006Missense_MutationnovelA1726V0.2
UCECchr630715094Missense_Mutationrs763377150V28M0.39
UCECchr630714080SilentnovelI80I0.48
UCECchr630712842Missense_Mutationrs768028369A367V0.43
UCECchr630704415Missense_MutationnovelP1590T0.11
UCECchr630712739SilentNAN401N0.06
UCECchr630703957Nonsense_MutationnovelC1742*0.43
UCECchr630705494Missense_MutationnovelG1230E0.38
UCECchr630705854Missense_Mutationrs199905318R1110Q0.11
UCECchr630707629Missense_Mutationrs201740735V984I0.44
UCECchr630712754SilentnovelA396A0.36
UCECchr630714178Missense_MutationnovelP48S0.19

Copy Number Variations (CNVs)
CancerTypeFreq Q-value

Survival Analysis
CancerP-value Q-value
THYM0.0028

Kaplan-Meier Survival Analysis

SARC0.00044

Kaplan-Meier Survival Analysis

ACC0.00018

Kaplan-Meier Survival Analysis

SKCM0.00011

Kaplan-Meier Survival Analysis

ESCA0.047

Kaplan-Meier Survival Analysis

PAAD0.0029

Kaplan-Meier Survival Analysis

READ0.0025

Kaplan-Meier Survival Analysis

KICH0.0059

Kaplan-Meier Survival Analysis

UCEC0.024

Kaplan-Meier Survival Analysis

LIHC0.0023

Kaplan-Meier Survival Analysis

THCA0.031

Kaplan-Meier Survival Analysis

UVM0.0006

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000137337 (Gene tree)
Gene ID
9656
Gene Symbol
MDC1
Alias
NFBD1|KIAA0170|Em:AB023051.5
Full Name
mediator of DNA damage checkpoint 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Minus strand
Length
18,160 bases
Position
chr6:30,699,807-30,717,966
Accession
21163
RBP type
non-canonical RBP
Summary
The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
30668775Tyrosine kinase c-Abl couples RNA polymerase II transcription to DNA double-strand breaks.Nucleic Acids Res2019 Apr 23Burger Kdoi: 10.1093/nar/gkz024.
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000494654MDC1-208148--- (aa)--
ENST00000417033MDC1-203916-ENSP00000408962306 (aa)-H0Y6Z8
ENST00000613547MDC1-209830-ENSP00000483601142 (aa)-A0A087X0R2
ENST00000376406MDC1-2017576XM_005249492ENSP000003655882089 (aa)XP_005249549Q14676
ENST00000489540MDC1-2061402--- (aa)--
ENST00000416571MDC1-202582-ENSP00000400979162 (aa)-A2AB05
ENST00000425072MDC1-205582-ENSP00000396989126 (aa)-A2AB07
ENST00000492462MDC1-207819--- (aa)--
ENST00000422266MDC1-204583-ENSP00000411310113 (aa)-A2AB06
Gene Model
Click here to download ENSG00000137337's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000137337Behcet Syndrome3.61722547635187E-0520622878
ENSG00000137337Immunoglobulins3E-623382691
ENSG00000137337Immunoglobulins8E-623382691
ENSG00000137337Immunoglobulins8E-623382691
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000137337rs3094093630711851TIgG glycosylation23382691[0.13-0.32] unit increase0.2231EFO_0005193
ENSG00000137337rs3094093630711851TIgG glycosylation23382691[0.14-0.33] unit increase0.2336EFO_0005193
ENSG00000137337rs3094093630711851TIgG glycosylation23382691[0.12-0.32] unit decrease0.2214EFO_0005193
ENSG00000137337rs28986317630704212?Tonsillectomy28928442[0.073-0.138] unit decrease0.1053EFO_0007924
ENSG00000137337rs114566187630703811TMacrophage Migration Inhibitory Factor levels27989323[0.083-0.185] SD units decrease0.1337EFO_0008221
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000137337's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0005515protein binding12607005.16186822.16377563.17525332.18001824.18001825.18583988.18678890.19234442.19804756.20159462.20224574.21293379.24240613.25064736.29656893.IPIFunction
GO:0005634nucleus15604234.24217620.24550317.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005694chromosome-ISSComponent
GO:0005925focal adhesion-IDAComponent
GO:0006303double-strand break repair via nonhomologous end joining-TASProcess
GO:0008022protein C-terminus binding17577209.IPIFunction
GO:0016604nuclear body-IDAComponent
GO:0031573intra-S DNA damage checkpoint17577209.TASProcess
GO:0042802identical protein binding21293379.29656893.IPIFunction
GO:0070975FHA domain binding20008512.IPIFunction
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