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
23063585Assessment of FANCD2 nuclear foci formation in paraffin-embedded tumors: a potential patient-enrichment strategy for treatment with DNA interstrand crosslinking agents.Transl Res2013 MarDuan Wdoi: 10.1016/j.trsl.2012.09.003
28157704Overlooked FANCD2 variant encodes a promising, portent tumor suppressor, and alternative polyadenylation contributes to its expression.Oncotarget2017 Apr 4Han Bdoi: 10.18632/oncotarget.14989.
28386063Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Sci Rep2017 Apr 6Mantere Tdoi: 10.1038/s41598-017-00766-9.
25736055BRCA/Fanconi anemia pathway implicates chemoresistance to gemcitabine in biliary tract cancer.Cancer Sci2015 MayNakashima Sdoi: 10.1111/cas.12652
21697891Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer.J Invest Dermatol2011 OctKao WHdoi: 10.1038/jid.2011.181
20339950FANCD2 mRNA overexpression is a bona fide indicator of lymph node metastasis in human colorectal cancer.Ann Surg Oncol2010 SepOzawa Hdoi: 10.1245/s10434-010-1002-7
19671671BRCA1-mediated signaling pathways in ovarian carcinogenesis.Funct Integr Genomics2012 MarKarve TMdoi: 10.1007/s10142-011-0251-2
19504183Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.Breast Cancer Res Treat2009 DecAmeziane Ndoi: 10.1007/s10549-009-0428-8
19748364Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication.Mol Cell2009 Sep 11Shen Xdoi: 10.1016/j.molcel.2009.06.034.
16679306FANCD2 associated with sporadic breast cancer risk.Carcinogenesis2006 SepBarroso E-
23965832A hidden role of the inactivated FANCD2: upregulating ??Np63.Oncotarget2013 SepPanneerselvam J-
20363922Significance of the Fanconi anemia FANCD2 protein in sporadic and metastatic human breast cancer.Am J Pathol2010 JunRudland PSdoi: 10.2353/ajpath.2010.090779
23357080Haplotype analysis of eight genes of the monoubiquitinated FANCD2-DNA damage-repair pathway in breast cancer patients.Cancer Epidemiol2013 JunTang LLdoi: 10.1016/j.canep.2012.12.010
17643815FANCD2 depletion sensitizes cancer cells repopulation ability in vitro.Cancer Lett2007 Oct 28Lyakhovich A-
27373334BRCA1/FANCD2/BRG1-Driven DNA Repair Stabilizes the Differentiation State of Human Mammary Epithelial Cells.Mol Cell2016 Jul 21Wang Hdoi: 10.1016/j.molcel.2016.05.038
28687786Involvement of FANCD2 in Energy Metabolism via ATP5α.Sci Rep2017 Jul 7Jayabal Pdoi: 10.1038/s41598-017-05150-1.

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr310085891Missense_MutationnovelE1102K0.16
BLCAchr310048034Missense_MutationnovelD466N0.06
BLCAchr310028712Missense_MutationnovelD19Y0.14
BLCAchr310085838Frame_Shift_DelnovelN1085Ffs*100.04
BLCAchr310092189Missense_MutationNAE1262D0.17
BLCAchr310096367SilentNAL1360L0.47
BLCAchr310074593Missense_Mutationrs778030235E927Q0.06
BLCAchr310078111Missense_MutationnovelE964K0.12
BLCAchr310088499Missense_MutationnovelE1173Q0.36
BLCAchr310064424Silentrs552206789P672P0.41
BLCAchr3100237005'Flanknovel0.53
BLCAchr310047936Missense_MutationNAS433L0.15
BLCAchr310049449Missense_MutationNAL497V0.23
BLCAchr310064761Missense_MutationNAG685A0.23
BLCAchr310065463Missense_MutationNAN746K0.2
BLCAchr310041550Intronnovel0.45
BLCAchr310036329Missense_MutationNAF161V0.19
BLCAchr310041556Intronnovel0.41
BLCAchr310052437SilentNAL532L0.1
BLCAchr310098980Intronnovel0.07
BLCAchr310098981Intronnovel0.06
BLCAchr310047944Missense_Mutationrs373898927L436M0.08
BLCAchr310081494Intronnovel0.15
BLCAchr310065482Missense_Mutationrs150217066D753N0.32
BLCAchr3100236315'Flanknovel0.1
BLCAchr3100286545'UTRnovel0.22
BLCAchr310043096Missense_MutationNAL312W0.23
BLCAchr3100260385'Flanknovel0.27
BLCAchr310028671Missense_MutationNAR5T0.06
BLCAchr310085920Splice_RegionNAL1111L0.85
BLCAchr310090314Missense_Mutationrs771078251R1236C0.36
BRCAchr310073257Missense_MutationNAR870S0.37
BRCAchr310065890Nonsense_MutationNAE766*0.21
BRCAchr310072903Missense_MutationNAF843I0.34
BRCAchr310034503SilentnovelF80F0.05
BRCAchr310085910Frame_Shift_InsnovelE1109Gfs*640.22
BRCAchr310078135Missense_MutationNAL972F0.55
BRCAchr310065417Missense_MutationNAA731V0.37
BRCAchr310096429Missense_MutationNAR1381T0.27
BRCAchr310047944Missense_MutationnovelL436V0.05
BRCAchr310087198Missense_MutationnovelL1134V0.21
BRCAchr310047956Nonsense_Mutationrs762406982Q440*0.3
BRCAchr310081336IntronNA0.29
BRCAchr310099073Intronnovel0.5
BRCAchr310039738SilentnovelI196I0.07
BRCAchr310064802Missense_MutationNAL699F0.39
BRCAchr310039993Intronrs562386880.88
BRCAchr310088876SilentNAI1203I0.46
BRCAchr310047944Silentrs373898927L436L0.11
BRCAchr3100237065'FlankNA0.3
CESCchr3100260875'Flanknovel0.52
CESCchr310065420Missense_Mutationrs754740540P732L0.39
CESCchr310032831Splice_SiteNAX22_splice0.42
CESCchr310039906Intronnovel0.14
CESCchr310101262Nonstop_MutationNA*1452Yext*1200.64
CESCchr310099018Intronnovel0.39
CESCchr310043143Nonsense_MutationnovelR328*0.45
CESCchr310064399Missense_MutationnovelF664S0.07
CESCchr310065451SilentnovelE742E0.37
CESCchr310081390SilentnovelV1050V0.23
CESCchr310073304Missense_MutationnovelS886L0.12
CESCchr310074649SilentnovelI945I0.12
CHOLchr310039808Missense_MutationnovelG220R0.38
COADchr3100236175'Flanknovel0.4
COADchr310085917SilentnovelL1110L0.02
COADchr310039733Missense_MutationNAK195E0.24
COADchr310035231Nonsense_Mutationrs368848371Q146*0.15
COADchr310034776Missense_Mutationrs200335298R119C0.24
COADchr310065421SilentnovelP732P0.26
COADchr310040148Intronnovel0.36
COADchr310046703Missense_MutationnovelT420A0.16
COADchr310043859Missense_MutationnovelH377Y0.27
COADchr310043507Missense_MutationnovelS338N0.05
COADchr310039964Intronnovel0.15
COADchr310060396Missense_MutationNAA587T0.09
COADchr310064760Missense_Mutationrs190777319G685R0.41
COADchr310039810SilentnovelG220G0.14
COADchr310043067SilentNAR302R0.39
COADchr3101013783'UTRnovel1
COADchr310094295Missense_Mutationrs555348798R1299C0.31
COADchr310073312Frame_Shift_DelNAN890Ifs*140.36
COADchr310092220Nonsense_Mutationrs745930696R1273*0.12
COADchr310090346Frame_Shift_InsNAI1249Nfs*20.48
COADchr310043066Missense_Mutationrs755797932R302Q0.2
COADchr310081381SilentnovelG1047G0.19
COADchr3100236755'Flanknovel0.25
DLBCchr310052401Nonsense_MutationnovelY520*0.31
DLBCchr310039308Missense_Mutationrs41291203R174Q0.47
ESCAchr310098984Intronnovel0.19
ESCAchr310064765Silentrs773593671L686L0.3
ESCAchr310090313SilentnovelF1235F0.2
ESCAchr310065449Nonsense_MutationnovelE742*0.08
ESCAchr310067306Missense_MutationnovelK828T0.37
ESCAchr310085825Missense_MutationnovelQ1080E0.42
GBMchr310042588Silentrs773072936S271S0.43
GBMchr310078104Frame_Shift_InsnovelE964*0.06
GBMchr310039354SilentnovelG189G0.37
GBMchr310085892Missense_MutationnovelE1102V0.1
GBMchr3100235545'Flanknovel0.21
GBMchr310042631Missense_MutationnovelL286I0.26
GBMchr310081143Missense_MutationnovelR1007I0.26
GBMchr310081352Missense_MutationnovelA1038T0.05
GBMchr310065933Missense_MutationNAS780L0.26
GBMchr310043493SilentnovelG333G0.17
GBMchr310093304Missense_MutationnovelV1290A0.06
GBMchr3101013623'UTRnovel0.18
GBMchr310064825Missense_MutationnovelQ706H0.18
GBMchr310074653Missense_MutationnovelD947Y0.32
GBMchr310098995Intronrs7463883050.11
GBMchr310067224Missense_MutationNAC801R0.2
GBMchr310101254Frame_Shift_DelnovelS1450Lfs*230.16
HNSCchr310052473Missense_MutationnovelQ544H0.06
HNSCchr310039341Missense_MutationnovelR185T0.24
HNSCchr310043130SilentnovelL323L0.27
HNSCchr310043558Missense_MutationnovelR355K0.14
HNSCchr310043856Missense_MutationnovelE376K0.24
HNSCchr310063837Missense_Mutationrs747225209P625S0.4
HNSCchr310046603SilentnovelF386F0.15
HNSCchr310081152Missense_Mutationrs376836572Q1010R0.3
HNSCchr310047982SilentnovelQ448Q0.11
HNSCchr310041675Missense_MutationnovelS250T0.47
KICHchr310065429Missense_Mutationrs755975980R735Q0.43
KIRCchr310039780SilentnovelD210D0.15
KIRCchr310052488Frame_Shift_InsnovelH550Sfs*50.06
KIRCchr310052489Missense_MutationnovelH550N0.06
KIRCchr310041493Intronnovel0.18
KIRCchr310041454Intronnovel0.8
KIRPchr310099088Intronnovel0.33
KIRPchr310047949Silentrs564577177S437S0.07
LAMLchr310065471Frame_Shift_InsnovelE750Gfs*70.04
LGGchr310093295Missense_MutationnovelS1287N0.35
LGGchr310041699Missense_MutationNAF258V0.31
LGGchr310043836Missense_MutationNAE369G0.33
LGGchr310081113Missense_Mutationrs587778331R997Q0.45
LIHCchr310043128Silentrs370641659L323L0.38
LIHCchr310041705Silentrs756621826L260L0.31
LIHCchr310060379Missense_MutationNAM581T0.41
LIHCchr310087149Silentrs566518051Y1117Y0.3
LIHCchr310034512SilentNAL83L0.21
LIHCchr310032919Missense_MutationnovelL51R0.06
LIHCchr310095264Missense_MutationNAG1343E0.5
LUADchr310043055SilentnovelI298I0.25
LUADchr310099061Intronnovel0.11
LUADchr310028624Splice_Sitenovel0.22
LUADchr310090378Missense_MutationnovelS1257W0.19
LUADchr3100286425'UTRnovel0.21
LUADchr310046643Missense_MutationnovelD400Y0.22
LUADchr310098843IntronNA0.21
LUADchr310065406SilentnovelP727P0.13
LUADchr310088458Missense_MutationnovelA1159V0.34
LUADchr310064804SilentNAL699L0.26
LUADchr310062183Missense_MutationNAA600G0.29
LUSCchr310098800SilentnovelK1422K0.63
LUSCchr310088916Missense_MutationnovelD1217N0.42
LUSCchr310081367Missense_MutationnovelG1043C0.69
LUSCchr310039738Missense_MutationnovelI196M0.22
LUSCchr310090335Missense_MutationnovelE1243Q0.46
LUSCchr3101013023'UTRnovel0.63
LUSCchr310064400Missense_MutationnovelF664L0.11
LUSCchr310046617Frame_Shift_DelnovelN392Ifs*120.17
OVchr3100261185'Flanknovel0.18
OVchr310064356Nonsense_MutationNAE650*0.17
OVchr310081528Intronnovel0.41
OVchr310081386Missense_MutationnovelG1049E0.14
OVchr310065484Missense_MutationnovelD753E0.06
OVchr310047992Missense_MutationnovelS452P0.08
OVchr310085901Missense_MutationnovelQ1105L0.08
OVchr310087249Missense_MutationnovelN1151Y0.26
OVchr310096390Missense_MutationnovelV1368D0.16
OVchr310099027Intronrs5633073880.29
OVchr310096452Missense_MutationnovelL1389I0.05
OVchr310085876Nonsense_MutationnovelR1097*0.23
PAADchr310065937SilentnovelF781F0.23
PAADchr310065457SilentnovelQ744Q0.17
PAADchr3101012893'UTRnovel0.24
PAADchr310064423Missense_Mutationrs754258198P672L0.05
PRADchr310065398Missense_MutationnovelV725M0.33
PRADchr310087188Nonsense_MutationnovelC1130*0.25
READchr310042588Silentrs773072936S271S0.49
READchr3101013643'UTRnovel0.19
READchr310074582Frame_Shift_InsnovelR926Pfs*60.23
READchr310034704Nonsense_MutationNAE95*0.19
READchr3100235625'Flanknovel0.48
READchr310052406Missense_MutationnovelD522G0.39
READchr310073340Missense_MutationnovelS898Y0.36
READchr310081163Missense_MutationnovelH1014N0.4
SKCMchr310065420Missense_Mutationrs754740540P732L0.29
SKCMchr310088452Missense_MutationNAS1157F0.4
SKCMchr310098745Missense_MutationnovelS1404F0.43
SKCMchr310088891SilentNAV1208V0.28
SKCMchr310039305Frame_Shift_DelnovelR174Lfs*50.29
SKCMchr310098937IntronNA0.27
SKCMchr310088451Missense_MutationnovelS1157A0.46
SKCMchr310047920Missense_MutationNAL428F0.34
SKCMchr310039804SilentNAI218I0.17
SKCMchr310048004Missense_MutationNAL456F0.11
SKCMchr310098820Splice_RegionNA0.32
SKCMchr310087240Missense_MutationnovelS1148P0.22
SKCMchr310043074SilentNAL305L0.4
SKCMchr310039805SilentNAL219L0.37
SKCMchr310060311SilentNAV558V0.5
SKCMchr310087176SilentNAP1126P0.29
SKCMchr310088916Missense_MutationnovelD1217N0.24
SKCMchr310047993Missense_MutationNAS452L0.07
SKCMchr310039741Missense_MutationNAM197I0.24
SKCMchr310047993Missense_MutationNAS452L0.18
SKCMchr310088934Missense_MutationNAF1223L0.16
SKCMchr310085888Missense_MutationnovelG1101R0.32
SKCMchr310047926Missense_MutationNAD430N0.11
SKCMchr310094360SilentNAH1320H0.56
SKCMchr310095226SilentNAT1330T0.37
SKCMchr310067298SilentnovelI825I0.35
SKCMchr310081331Intronnovel0.38
SKCMchr310064383Missense_MutationnovelD659N0.12
STADchr310096339Missense_Mutationrs775898191T1351M0.34
STADchr310052420Nonsense_MutationnovelQ527*0.22
STADchr310092226Missense_MutationnovelF1275L0.17
STADchr310032836SilentNAT23T0.15
STADchr310046721Splice_RegionnovelL426L0.3
STADchr310041496Intronnovel0.3
STADchr310042584Missense_MutationNAL270S0.07
STADchr310072930Missense_MutationnovelP852S0.28
STADchr310039799Missense_MutationNAE217K0.11
STADchr310073252Splice_SiteNAX869_splice0.12
STADchr310088511Missense_MutationNAI1177V0.07
STADchr310036328Frame_Shift_DelnovelF162Lfs*190.24
STADchr310088851Missense_MutationNAS1195N0.24
STADchr310073335Silentrs759396763T896T0.06
STADchr3101013033'UTRnovel0.39
STADchr310064774Silentrs763189891Y689Y0.05
STADchr310096470Nonsense_MutationNAQ1395*0.21
STADchr310098904IntronNA0.1
STADchr310078184Missense_MutationnovelV988D0.06
STADchr310042646Missense_Mutationrs749776442A291T0.19
TGCTchr310090364SilentnovelG1252G0.52
THCAchr310098982Intronnovel0.07
THCAchr310064417Missense_MutationNAV670A0.27
THCAchr310081396In_Frame_InsnovelV1052_Q1053insL0.05
THCAchr310081526Intronnovel0.05
UCECchr310074640Silentrs200118565T942T0.36
UCECchr310081405Silentrs375929975Y1055Y0.33
UCECchr310032964Missense_Mutationrs555779878N66I0.15
UCECchr310065406Silentrs560600678P727P0.34
UCECchr310095223Missense_MutationnovelE1329D0.34
UCECchr310096465Missense_MutationnovelD1393G0.31
UCECchr310073256Missense_MutationNAR870K0.45
UCECchr310095223SilentNAE1329E0.13
UCECchr310028717SilentnovelA20A0.25
UCECchr310046623Missense_MutationnovelT393N0.37
UCECchr310048020Missense_Mutationrs766921614A461V0.16
UCECchr310039838Nonsense_MutationNAE230*0.34
UCECchr310042588Silentrs773072936S271S0.43
UCECchr310046667Nonsense_Mutationrs771869385R408*0.17
UCECchr310074553Missense_MutationnovelK913N0.33
UCECchr310064810Silentrs139033444P701P0.11
UCECchr310101240Missense_MutationNAE1445A0.19
UCECchr310042563Missense_Mutationrs746722465R263H0.37
UCECchr310047932Missense_MutationNAC432R0.14
UCECchr310096405Missense_MutationNAA1373D0.22
UCECchr310081396SilentnovelV1052V0.19
UCECchr310043557SilentnovelR355R0.11
UCECchr310081158Missense_MutationnovelI1012S0.34
UCECchr310043529SilentNAL345L0.36
UCECchr310064811SilentNAL702L0.17
UCECchr310043554Missense_MutationnovelI354V0.41
UCECchr3100237395'Flanknovel0.49
UCECchr310087134Splice_RegionnovelS1112S0.14
UCECchr310087255Nonsense_MutationnovelE1153*0.14
UCECchr310098972Intronnovel0.21
UCECchr310039959Intronnovel0.36
UCECchr3100237335'Flanknovel0.3
UCECchr310043849SilentnovelS373S0.2
UCECchr310072875SilentnovelT833T0.11
UCECchr310067277SilentNAH818H0.37
UCECchr310081170Frame_Shift_DelnovelQ1018Nfs*30.42
UCECchr310062150Splice_SitenovelX589_splice0.37
UCECchr310052430Missense_MutationNAR530Q0.46
UCECchr310042581Missense_MutationnovelK269T0.44
UCECchr310047916Splice_SitenovelX427_splice0.17
UCECchr310062193Silentrs367551904S603S0.51
UCECchr310063870Missense_MutationnovelA636T0.3
UCECchr310092209Missense_MutationnovelN1269S0.33
UCECchr310096410Missense_MutationnovelL1375I0.36
UCECchr310098820Splice_Regionnovel0.47
UCECchr310101203Missense_Mutationrs755911397E1433K0.11
UCECchr310090378Missense_Mutationrs374940277S1257L0.32
UCECchr310036315Missense_MutationnovelK156T0.07
UCECchr310096339Missense_Mutationrs775898191T1351M0.29
UCECchr310081154Nonsense_MutationNAE1011*0.47
UCECchr310063858Missense_MutationnovelY632H0.06
UCECchr310067309Missense_MutationnovelY829C0.18
UCECchr310088476Missense_Mutationrs549507714R1165Q0.29
UCECchr310046633SilentnovelK396K0.16
UCECchr310085813Missense_MutationnovelS1076G0.24
UCECchr310096461Missense_Mutationrs368195150R1392W0.31
UCECchr310049494Missense_Mutationrs749868748V512L0.08
UCECchr310088501Missense_MutationnovelE1173D0.35
UCECchr310101203Missense_Mutationrs755911397E1433K0.41
UCECchr310036323Nonsense_MutationNAE159*0.41
UCECchr310099107Intronnovel0.53
UCECchr310060298Missense_MutationnovelD554G0.48
UCECchr3101013823'UTRnovel0.51
UCECchr310073311Missense_MutationnovelE888D0.27
UCECchr310098970Intronnovel0.09
UCECchr310042647Missense_MutationnovelA291D0.29
UCECchr310049492Missense_Mutationrs535880276A511V0.18
UCECchr310088887Missense_MutationnovelG1207D0.39
UCECchr310040314Intronnovel0.5
UCECchr310090297Missense_Mutationrs773540135T1230I0.39
UCECchr310064362Missense_MutationnovelV652I0.13
UCECchr310062211Missense_MutationNAQ609H0.33
UCECchr310081479Intronnovel0.06
UCECchr310064355Splice_SitenovelX650_splice0.25
UCECchr310040509Intronnovel0.13
UCECchr310034719SilentnovelL100L0.1
UCECchr310042587Missense_Mutationrs766821340S271L0.49
UCECchr310041545Intronnovel0.37
UCECchr310088895Nonsense_MutationNAE1210*0.3
UCECchr310040456Intronnovel0.38
UCECchr310092220Nonsense_Mutationrs745930696R1273*0.3
UCECchr310032927Missense_MutationnovelI54L0.21
UCECchr310096325Splice_SitenovelX1347_splice0.35
UCECchr310098820Splice_Regionnovel0.19
UCECchr310043494Missense_MutationnovelN334H0.45
UCECchr310043566Missense_MutationnovelK358E0.24
UCECchr3100236755'Flanknovel0.48
UCECchr310052429Nonsense_MutationNAR530*0.32
UCECchr310065428Missense_Mutationrs752621186R735W0.39
UCECchr310098867Intronnovel0.49
UCECchr310101216Missense_MutationnovelG1437E0.46
UCECchr3100236935'Flanknovel0.31
UCECchr310088475Missense_Mutationrs759348779R1165W0.4
UCSchr310101219Missense_MutationnovelE1438G0.11
UVMchr310098878Intronnovel0.45

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
CHOLDEL0.750.02241
COADDEL0.13080.010931
KIRCDEL0.84662.8873e-53
LUADDEL0.30620.068154
SKCMDEL0.15530.13887
TGCTDEL0.21330.08422
THYMDEL0.08130.037527

Survival Analysis
CancerP-value Q-value
THYM0.0024

Kaplan-Meier Survival Analysis

KIRC0.00017

Kaplan-Meier Survival Analysis

STAD0.0095

Kaplan-Meier Survival Analysis

SARC0.019

Kaplan-Meier Survival Analysis

MESO0.00013

Kaplan-Meier Survival Analysis

ACC0.00032

Kaplan-Meier Survival Analysis

SKCM0.032

Kaplan-Meier Survival Analysis

KIRP0.00079

Kaplan-Meier Survival Analysis

PAAD0.0061

Kaplan-Meier Survival Analysis

PCPG0.0066

Kaplan-Meier Survival Analysis

READ0.00029

Kaplan-Meier Survival Analysis

KICH0.0043

Kaplan-Meier Survival Analysis

UCEC0.018

Kaplan-Meier Survival Analysis

LIHC0.0001

Kaplan-Meier Survival Analysis

DLBC0.016

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

LUAD0.00041

Kaplan-Meier Survival Analysis

OV0.00034

Kaplan-Meier Survival Analysis

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000144554 (Gene tree)
Gene ID
2177
Gene Symbol
FANCD2
Alias
FAD|FA-D2|FACD|FANCD
Full Name
FA complementation group D2
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
75,546 bases
Position
chr3:10,026,387-10,101,932
Accession
3585
RBP type
non-canonical RBP
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
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
29431736Capturing the interactome of newly transcribed RNARICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
30650351Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination.Cell Rep2019 Jan 15Liang Zdoi: 10.1016/j.celrep.2018.12.084.
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000287647FANCD2-2015219-ENSP000002876471471 (aa)-Q9BXW9
ENST00000483276FANCD2-212505--- (aa)--
ENST00000421731FANCD2-2043425-ENSP00000389936749 (aa)-H7BZJ7
ENST00000431693FANCD2-2052450-ENSP00000399354241 (aa)-Q9BXW9
ENST00000438741FANCD2-207558--- (aa)--
ENST00000419585FANCD2-2035185-ENSP000003987541451 (aa)-Q9BXW9
ENST00000470028FANCD2-209449--- (aa)--
ENST00000383807FANCD2-2025102-ENSP000003733181451 (aa)-Q9BXW9
ENST00000625535FANCD2-213117-ENSP0000048694538 (aa)-F8WE37
ENST00000480909FANCD2-211603--- (aa)--
ENST00000464934FANCD2-208563--- (aa)--
ENST00000435522FANCD2-206567-ENSP0000040216638 (aa)-F8WE37
ENST00000470757FANCD2-210547--- (aa)--
Gene Model
Click here to download ENSG00000144554's gene model file
Pathways
Pathway IDPathway NameSource
hsa03460Fanconi anemia pathwayKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000144554Atherosclerosis6.4642936E-005-
ENSG00000144554Bronchodilator Agents3E-626634245
ENSG00000144554Lung Volume Measurements3E-626634245
ENSG00000144554Alzheimer Disease2E-624755620
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000144554rs76041173310037011TBlood protein levels29875488[1.14-1.34] unit decrease1.24EFO_0007937
ENSG00000144554rs143915539310086675TPost bronchodilator FEV1/FVC ratio26634245unit increase0.075GO_0097366|EFO_0004713
ENSG00000144554rs1552244310093893AAlzheimer's disease24755620[NR]1.32EFO_0000249
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000144554's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000793condensed chromosome21873635.IBAComponent
GO:0005515protein binding12874027.15115758.17460694.18212739.19609304.20603015.20603016.20603073.20805509.IPIFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus26323318.IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0005730nucleolus-IDAComponent
GO:0005829cytosol-IDAComponent
GO:0006281DNA repair21873635.IBAProcess
GO:0007129synapsis-IEAProcess
GO:0007276gamete generation-IEAProcess
GO:0010332response to gamma radiation12874027.IDAProcess
GO:0016604nuclear body-IDAComponent
GO:0034599cellular response to oxidative stress-IEAProcess
GO:0036297interstrand cross-link repair-TASProcess
GO:0045589regulation of regulatory T cell differentiation-IEAProcess
GO:0048854brain morphogenesis-IEAProcess
GO:0050727regulation of inflammatory response-IEAProcess
GO:0051090regulation of DNA-binding transcription factor activity-IEAProcess
GO:0070182DNA polymerase binding21873635.IBAFunction
GO:0070182DNA polymerase binding19995904.IPIFunction
GO:0097150neuronal stem cell population maintenance-IEAProcess
GO:2000348regulation of CD40 signaling pathway-IEAProcess
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