EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
23063585	Assessment of FANCD2 nuclear foci formation in paraffin-embedded tumors: a potential patient-enrichment strategy for treatment with DNA interstrand crosslinking agents.	Transl Res	2013 Mar	Duan W	doi: 10.1016/j.trsl.2012.09.003
28157704	Overlooked FANCD2 variant encodes a promising, portent tumor suppressor, and alternative polyadenylation contributes to its expression.	Oncotarget	2017 Apr 4	Han B	doi: 10.18632/oncotarget.14989.
28386063	Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.	Sci Rep	2017 Apr 6	Mantere T	doi: 10.1038/s41598-017-00766-9.
25736055	BRCA/Fanconi anemia pathway implicates chemoresistance to gemcitabine in biliary tract cancer.	Cancer Sci	2015 May	Nakashima S	doi: 10.1111/cas.12652
21697891	Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer.	J Invest Dermatol	2011 Oct	Kao WH	doi: 10.1038/jid.2011.181
20339950	FANCD2 mRNA overexpression is a bona fide indicator of lymph node metastasis in human colorectal cancer.	Ann Surg Oncol	2010 Sep	Ozawa H	doi: 10.1245/s10434-010-1002-7
19671671	BRCA1-mediated signaling pathways in ovarian carcinogenesis.	Funct Integr Genomics	2012 Mar	Karve TM	doi: 10.1007/s10142-011-0251-2
19504183	Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.	Breast Cancer Res Treat	2009 Dec	Ameziane N	doi: 10.1007/s10549-009-0428-8
19748364	Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication.	Mol Cell	2009 Sep 11	Shen X	doi: 10.1016/j.molcel.2009.06.034.
16679306	FANCD2 associated with sporadic breast cancer risk.	Carcinogenesis	2006 Sep	Barroso E	-
23965832	A hidden role of the inactivated FANCD2: upregulating ??Np63.	Oncotarget	2013 Sep	Panneerselvam J	-
20363922	Significance of the Fanconi anemia FANCD2 protein in sporadic and metastatic human breast cancer.	Am J Pathol	2010 Jun	Rudland PS	doi: 10.2353/ajpath.2010.090779
23357080	Haplotype analysis of eight genes of the monoubiquitinated FANCD2-DNA damage-repair pathway in breast cancer patients.	Cancer Epidemiol	2013 Jun	Tang LL	doi: 10.1016/j.canep.2012.12.010
17643815	FANCD2 depletion sensitizes cancer cells repopulation ability in vitro.	Cancer Lett	2007 Oct 28	Lyakhovich A	-
27373334	BRCA1/FANCD2/BRG1-Driven DNA Repair Stabilizes the Differentiation State of Human Mammary Epithelial Cells.	Mol Cell	2016 Jul 21	Wang H	doi: 10.1016/j.molcel.2016.05.038
28687786	Involvement of FANCD2 in Energy Metabolism via ATP5α.	Sci Rep	2017 Jul 7	Jayabal P	doi: 10.1038/s41598-017-05150-1.

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr3	10085891	Missense_Mutation	novel	E1102K	0.16
BLCA	chr3	10048034	Missense_Mutation	novel	D466N	0.06
BLCA	chr3	10028712	Missense_Mutation	novel	D19Y	0.14
BLCA	chr3	10085838	Frame_Shift_Del	novel	*N1085Ffs10**	0.04
BLCA	chr3	10092189	Missense_Mutation	NA	E1262D	0.17
BLCA	chr3	10096367	Silent	NA	L1360L	0.47
BLCA	chr3	10074593	Missense_Mutation	rs778030235	E927Q	0.06
BLCA	chr3	10078111	Missense_Mutation	novel	E964K	0.12
BLCA	chr3	10088499	Missense_Mutation	novel	E1173Q	0.36
BLCA	chr3	10064424	Silent	rs552206789	P672P	0.41
BLCA	chr3	10023700	5'Flank	novel		0.53
BLCA	chr3	10047936	Missense_Mutation	NA	S433L	0.15
BLCA	chr3	10049449	Missense_Mutation	NA	L497V	0.23
BLCA	chr3	10064761	Missense_Mutation	NA	G685A	0.23
BLCA	chr3	10065463	Missense_Mutation	NA	N746K	0.2
BLCA	chr3	10041550	Intron	novel		0.45
BLCA	chr3	10036329	Missense_Mutation	NA	F161V	0.19
BLCA	chr3	10041556	Intron	novel		0.41
BLCA	chr3	10052437	Silent	NA	L532L	0.1
BLCA	chr3	10098980	Intron	novel		0.07
BLCA	chr3	10098981	Intron	novel		0.06
BLCA	chr3	10047944	Missense_Mutation	rs373898927	L436M	0.08
BLCA	chr3	10081494	Intron	novel		0.15
BLCA	chr3	10065482	Missense_Mutation	rs150217066	D753N	0.32
BLCA	chr3	10023631	5'Flank	novel		0.1
BLCA	chr3	10028654	5'UTR	novel		0.22
BLCA	chr3	10043096	Missense_Mutation	NA	L312W	0.23
BLCA	chr3	10026038	5'Flank	novel		0.27
BLCA	chr3	10028671	Missense_Mutation	NA	R5T	0.06
BLCA	chr3	10085920	Splice_Region	NA	L1111L	0.85
BLCA	chr3	10090314	Missense_Mutation	rs771078251	R1236C	0.36
BRCA	chr3	10073257	Missense_Mutation	NA	R870S	0.37
BRCA	chr3	10065890	Nonsense_Mutation	NA	E766*	0.21
BRCA	chr3	10072903	Missense_Mutation	NA	F843I	0.34
BRCA	chr3	10034503	Silent	novel	F80F	0.05
BRCA	chr3	10085910	Frame_Shift_Ins	novel	*E1109Gfs64**	0.22
BRCA	chr3	10078135	Missense_Mutation	NA	L972F	0.55
BRCA	chr3	10065417	Missense_Mutation	NA	A731V	0.37
BRCA	chr3	10096429	Missense_Mutation	NA	R1381T	0.27
BRCA	chr3	10047944	Missense_Mutation	novel	L436V	0.05
BRCA	chr3	10087198	Missense_Mutation	novel	L1134V	0.21
BRCA	chr3	10047956	Nonsense_Mutation	rs762406982	Q440*	0.3
BRCA	chr3	10081336	Intron	NA		0.29
BRCA	chr3	10099073	Intron	novel		0.5
BRCA	chr3	10039738	Silent	novel	I196I	0.07
BRCA	chr3	10064802	Missense_Mutation	NA	L699F	0.39
BRCA	chr3	10039993	Intron	rs56238688		0.88
BRCA	chr3	10088876	Silent	NA	I1203I	0.46
BRCA	chr3	10047944	Silent	rs373898927	L436L	0.11
BRCA	chr3	10023706	5'Flank	NA		0.3
CESC	chr3	10026087	5'Flank	novel		0.52
CESC	chr3	10065420	Missense_Mutation	rs754740540	P732L	0.39
CESC	chr3	10032831	Splice_Site	NA	X22_splice	0.42
CESC	chr3	10039906	Intron	novel		0.14
CESC	chr3	10101262	Nonstop_Mutation	NA	1452Yext120	0.64
CESC	chr3	10099018	Intron	novel		0.39
CESC	chr3	10043143	Nonsense_Mutation	novel	R328*	0.45
CESC	chr3	10064399	Missense_Mutation	novel	F664S	0.07
CESC	chr3	10065451	Silent	novel	E742E	0.37
CESC	chr3	10081390	Silent	novel	V1050V	0.23
CESC	chr3	10073304	Missense_Mutation	novel	S886L	0.12
CESC	chr3	10074649	Silent	novel	I945I	0.12
CHOL	chr3	10039808	Missense_Mutation	novel	G220R	0.38
COAD	chr3	10023617	5'Flank	novel		0.4
COAD	chr3	10085917	Silent	novel	L1110L	0.02
COAD	chr3	10039733	Missense_Mutation	NA	K195E	0.24
COAD	chr3	10035231	Nonsense_Mutation	rs368848371	Q146*	0.15
COAD	chr3	10034776	Missense_Mutation	rs200335298	R119C	0.24
COAD	chr3	10065421	Silent	novel	P732P	0.26
COAD	chr3	10040148	Intron	novel		0.36
COAD	chr3	10046703	Missense_Mutation	novel	T420A	0.16
COAD	chr3	10043859	Missense_Mutation	novel	H377Y	0.27
COAD	chr3	10043507	Missense_Mutation	novel	S338N	0.05
COAD	chr3	10039964	Intron	novel		0.15
COAD	chr3	10060396	Missense_Mutation	NA	A587T	0.09
COAD	chr3	10064760	Missense_Mutation	rs190777319	G685R	0.41
COAD	chr3	10039810	Silent	novel	G220G	0.14
COAD	chr3	10043067	Silent	NA	R302R	0.39
COAD	chr3	10101378	3'UTR	novel		1
COAD	chr3	10094295	Missense_Mutation	rs555348798	R1299C	0.31
COAD	chr3	10073312	Frame_Shift_Del	NA	*N890Ifs14**	0.36
COAD	chr3	10092220	Nonsense_Mutation	rs745930696	R1273*	0.12
COAD	chr3	10090346	Frame_Shift_Ins	NA	*I1249Nfs2**	0.48
COAD	chr3	10043066	Missense_Mutation	rs755797932	R302Q	0.2
COAD	chr3	10081381	Silent	novel	G1047G	0.19
COAD	chr3	10023675	5'Flank	novel		0.25
DLBC	chr3	10052401	Nonsense_Mutation	novel	Y520*	0.31
DLBC	chr3	10039308	Missense_Mutation	rs41291203	R174Q	0.47
ESCA	chr3	10098984	Intron	novel		0.19
ESCA	chr3	10064765	Silent	rs773593671	L686L	0.3
ESCA	chr3	10090313	Silent	novel	F1235F	0.2
ESCA	chr3	10065449	Nonsense_Mutation	novel	E742*	0.08
ESCA	chr3	10067306	Missense_Mutation	novel	K828T	0.37
ESCA	chr3	10085825	Missense_Mutation	novel	Q1080E	0.42
GBM	chr3	10042588	Silent	rs773072936	S271S	0.43
GBM	chr3	10078104	Frame_Shift_Ins	novel	E964*	0.06
GBM	chr3	10039354	Silent	novel	G189G	0.37
GBM	chr3	10085892	Missense_Mutation	novel	E1102V	0.1
GBM	chr3	10023554	5'Flank	novel		0.21
GBM	chr3	10042631	Missense_Mutation	novel	L286I	0.26
GBM	chr3	10081143	Missense_Mutation	novel	R1007I	0.26
GBM	chr3	10081352	Missense_Mutation	novel	A1038T	0.05
GBM	chr3	10065933	Missense_Mutation	NA	S780L	0.26
GBM	chr3	10043493	Silent	novel	G333G	0.17
GBM	chr3	10093304	Missense_Mutation	novel	V1290A	0.06
GBM	chr3	10101362	3'UTR	novel		0.18
GBM	chr3	10064825	Missense_Mutation	novel	Q706H	0.18
GBM	chr3	10074653	Missense_Mutation	novel	D947Y	0.32
GBM	chr3	10098995	Intron	rs746388305		0.11
GBM	chr3	10067224	Missense_Mutation	NA	C801R	0.2
GBM	chr3	10101254	Frame_Shift_Del	novel	*S1450Lfs23**	0.16
HNSC	chr3	10052473	Missense_Mutation	novel	Q544H	0.06
HNSC	chr3	10039341	Missense_Mutation	novel	R185T	0.24
HNSC	chr3	10043130	Silent	novel	L323L	0.27
HNSC	chr3	10043558	Missense_Mutation	novel	R355K	0.14
HNSC	chr3	10043856	Missense_Mutation	novel	E376K	0.24
HNSC	chr3	10063837	Missense_Mutation	rs747225209	P625S	0.4
HNSC	chr3	10046603	Silent	novel	F386F	0.15
HNSC	chr3	10081152	Missense_Mutation	rs376836572	Q1010R	0.3
HNSC	chr3	10047982	Silent	novel	Q448Q	0.11
HNSC	chr3	10041675	Missense_Mutation	novel	S250T	0.47
KICH	chr3	10065429	Missense_Mutation	rs755975980	R735Q	0.43
KIRC	chr3	10039780	Silent	novel	D210D	0.15
KIRC	chr3	10052488	Frame_Shift_Ins	novel	*H550Sfs5**	0.06
KIRC	chr3	10052489	Missense_Mutation	novel	H550N	0.06
KIRC	chr3	10041493	Intron	novel		0.18
KIRC	chr3	10041454	Intron	novel		0.8
KIRP	chr3	10099088	Intron	novel		0.33
KIRP	chr3	10047949	Silent	rs564577177	S437S	0.07
LAML	chr3	10065471	Frame_Shift_Ins	novel	*E750Gfs7**	0.04
LGG	chr3	10093295	Missense_Mutation	novel	S1287N	0.35
LGG	chr3	10041699	Missense_Mutation	NA	F258V	0.31
LGG	chr3	10043836	Missense_Mutation	NA	E369G	0.33
LGG	chr3	10081113	Missense_Mutation	rs587778331	R997Q	0.45
LIHC	chr3	10043128	Silent	rs370641659	L323L	0.38
LIHC	chr3	10041705	Silent	rs756621826	L260L	0.31
LIHC	chr3	10060379	Missense_Mutation	NA	M581T	0.41
LIHC	chr3	10087149	Silent	rs566518051	Y1117Y	0.3
LIHC	chr3	10034512	Silent	NA	L83L	0.21
LIHC	chr3	10032919	Missense_Mutation	novel	L51R	0.06
LIHC	chr3	10095264	Missense_Mutation	NA	G1343E	0.5
LUAD	chr3	10043055	Silent	novel	I298I	0.25
LUAD	chr3	10099061	Intron	novel		0.11
LUAD	chr3	10028624	Splice_Site	novel		0.22
LUAD	chr3	10090378	Missense_Mutation	novel	S1257W	0.19
LUAD	chr3	10028642	5'UTR	novel		0.21
LUAD	chr3	10046643	Missense_Mutation	novel	D400Y	0.22
LUAD	chr3	10098843	Intron	NA		0.21
LUAD	chr3	10065406	Silent	novel	P727P	0.13
LUAD	chr3	10088458	Missense_Mutation	novel	A1159V	0.34
LUAD	chr3	10064804	Silent	NA	L699L	0.26
LUAD	chr3	10062183	Missense_Mutation	NA	A600G	0.29
LUSC	chr3	10098800	Silent	novel	K1422K	0.63
LUSC	chr3	10088916	Missense_Mutation	novel	D1217N	0.42
LUSC	chr3	10081367	Missense_Mutation	novel	G1043C	0.69
LUSC	chr3	10039738	Missense_Mutation	novel	I196M	0.22
LUSC	chr3	10090335	Missense_Mutation	novel	E1243Q	0.46
LUSC	chr3	10101302	3'UTR	novel		0.63
LUSC	chr3	10064400	Missense_Mutation	novel	F664L	0.11
LUSC	chr3	10046617	Frame_Shift_Del	novel	*N392Ifs12**	0.17
OV	chr3	10026118	5'Flank	novel		0.18
OV	chr3	10064356	Nonsense_Mutation	NA	E650*	0.17
OV	chr3	10081528	Intron	novel		0.41
OV	chr3	10081386	Missense_Mutation	novel	G1049E	0.14
OV	chr3	10065484	Missense_Mutation	novel	D753E	0.06
OV	chr3	10047992	Missense_Mutation	novel	S452P	0.08
OV	chr3	10085901	Missense_Mutation	novel	Q1105L	0.08
OV	chr3	10087249	Missense_Mutation	novel	N1151Y	0.26
OV	chr3	10096390	Missense_Mutation	novel	V1368D	0.16
OV	chr3	10099027	Intron	rs563307388		0.29
OV	chr3	10096452	Missense_Mutation	novel	L1389I	0.05
OV	chr3	10085876	Nonsense_Mutation	novel	R1097*	0.23
PAAD	chr3	10065937	Silent	novel	F781F	0.23
PAAD	chr3	10065457	Silent	novel	Q744Q	0.17
PAAD	chr3	10101289	3'UTR	novel		0.24
PAAD	chr3	10064423	Missense_Mutation	rs754258198	P672L	0.05
PRAD	chr3	10065398	Missense_Mutation	novel	V725M	0.33
PRAD	chr3	10087188	Nonsense_Mutation	novel	C1130*	0.25
READ	chr3	10042588	Silent	rs773072936	S271S	0.49
READ	chr3	10101364	3'UTR	novel		0.19
READ	chr3	10074582	Frame_Shift_Ins	novel	*R926Pfs6**	0.23
READ	chr3	10034704	Nonsense_Mutation	NA	E95*	0.19
READ	chr3	10023562	5'Flank	novel		0.48
READ	chr3	10052406	Missense_Mutation	novel	D522G	0.39
READ	chr3	10073340	Missense_Mutation	novel	S898Y	0.36
READ	chr3	10081163	Missense_Mutation	novel	H1014N	0.4
SKCM	chr3	10065420	Missense_Mutation	rs754740540	P732L	0.29
SKCM	chr3	10088452	Missense_Mutation	NA	S1157F	0.4
SKCM	chr3	10098745	Missense_Mutation	novel	S1404F	0.43
SKCM	chr3	10088891	Silent	NA	V1208V	0.28
SKCM	chr3	10039305	Frame_Shift_Del	novel	*R174Lfs5**	0.29
SKCM	chr3	10098937	Intron	NA		0.27
SKCM	chr3	10088451	Missense_Mutation	novel	S1157A	0.46
SKCM	chr3	10047920	Missense_Mutation	NA	L428F	0.34
SKCM	chr3	10039804	Silent	NA	I218I	0.17
SKCM	chr3	10048004	Missense_Mutation	NA	L456F	0.11
SKCM	chr3	10098820	Splice_Region	NA		0.32
SKCM	chr3	10087240	Missense_Mutation	novel	S1148P	0.22
SKCM	chr3	10043074	Silent	NA	L305L	0.4
SKCM	chr3	10039805	Silent	NA	L219L	0.37
SKCM	chr3	10060311	Silent	NA	V558V	0.5
SKCM	chr3	10087176	Silent	NA	P1126P	0.29
SKCM	chr3	10088916	Missense_Mutation	novel	D1217N	0.24
SKCM	chr3	10047993	Missense_Mutation	NA	S452L	0.07
SKCM	chr3	10039741	Missense_Mutation	NA	M197I	0.24
SKCM	chr3	10047993	Missense_Mutation	NA	S452L	0.18
SKCM	chr3	10088934	Missense_Mutation	NA	F1223L	0.16
SKCM	chr3	10085888	Missense_Mutation	novel	G1101R	0.32
SKCM	chr3	10047926	Missense_Mutation	NA	D430N	0.11
SKCM	chr3	10094360	Silent	NA	H1320H	0.56
SKCM	chr3	10095226	Silent	NA	T1330T	0.37
SKCM	chr3	10067298	Silent	novel	I825I	0.35
SKCM	chr3	10081331	Intron	novel		0.38
SKCM	chr3	10064383	Missense_Mutation	novel	D659N	0.12
STAD	chr3	10096339	Missense_Mutation	rs775898191	T1351M	0.34
STAD	chr3	10052420	Nonsense_Mutation	novel	Q527*	0.22
STAD	chr3	10092226	Missense_Mutation	novel	F1275L	0.17
STAD	chr3	10032836	Silent	NA	T23T	0.15
STAD	chr3	10046721	Splice_Region	novel	L426L	0.3
STAD	chr3	10041496	Intron	novel		0.3
STAD	chr3	10042584	Missense_Mutation	NA	L270S	0.07
STAD	chr3	10072930	Missense_Mutation	novel	P852S	0.28
STAD	chr3	10039799	Missense_Mutation	NA	E217K	0.11
STAD	chr3	10073252	Splice_Site	NA	X869_splice	0.12
STAD	chr3	10088511	Missense_Mutation	NA	I1177V	0.07
STAD	chr3	10036328	Frame_Shift_Del	novel	*F162Lfs19**	0.24
STAD	chr3	10088851	Missense_Mutation	NA	S1195N	0.24
STAD	chr3	10073335	Silent	rs759396763	T896T	0.06
STAD	chr3	10101303	3'UTR	novel		0.39
STAD	chr3	10064774	Silent	rs763189891	Y689Y	0.05
STAD	chr3	10096470	Nonsense_Mutation	NA	Q1395*	0.21
STAD	chr3	10098904	Intron	NA		0.1
STAD	chr3	10078184	Missense_Mutation	novel	V988D	0.06
STAD	chr3	10042646	Missense_Mutation	rs749776442	A291T	0.19
TGCT	chr3	10090364	Silent	novel	G1252G	0.52
THCA	chr3	10098982	Intron	novel		0.07
THCA	chr3	10064417	Missense_Mutation	NA	V670A	0.27
THCA	chr3	10081396	In_Frame_Ins	novel	V1052_Q1053insL	0.05
THCA	chr3	10081526	Intron	novel		0.05
UCEC	chr3	10074640	Silent	rs200118565	T942T	0.36
UCEC	chr3	10081405	Silent	rs375929975	Y1055Y	0.33
UCEC	chr3	10032964	Missense_Mutation	rs555779878	N66I	0.15
UCEC	chr3	10065406	Silent	rs560600678	P727P	0.34
UCEC	chr3	10095223	Missense_Mutation	novel	E1329D	0.34
UCEC	chr3	10096465	Missense_Mutation	novel	D1393G	0.31
UCEC	chr3	10073256	Missense_Mutation	NA	R870K	0.45
UCEC	chr3	10095223	Silent	NA	E1329E	0.13
UCEC	chr3	10028717	Silent	novel	A20A	0.25
UCEC	chr3	10046623	Missense_Mutation	novel	T393N	0.37
UCEC	chr3	10048020	Missense_Mutation	rs766921614	A461V	0.16
UCEC	chr3	10039838	Nonsense_Mutation	NA	E230*	0.34
UCEC	chr3	10042588	Silent	rs773072936	S271S	0.43
UCEC	chr3	10046667	Nonsense_Mutation	rs771869385	R408*	0.17
UCEC	chr3	10074553	Missense_Mutation	novel	K913N	0.33
UCEC	chr3	10064810	Silent	rs139033444	P701P	0.11
UCEC	chr3	10101240	Missense_Mutation	NA	E1445A	0.19
UCEC	chr3	10042563	Missense_Mutation	rs746722465	R263H	0.37
UCEC	chr3	10047932	Missense_Mutation	NA	C432R	0.14
UCEC	chr3	10096405	Missense_Mutation	NA	A1373D	0.22
UCEC	chr3	10081396	Silent	novel	V1052V	0.19
UCEC	chr3	10043557	Silent	novel	R355R	0.11
UCEC	chr3	10081158	Missense_Mutation	novel	I1012S	0.34
UCEC	chr3	10043529	Silent	NA	L345L	0.36
UCEC	chr3	10064811	Silent	NA	L702L	0.17
UCEC	chr3	10043554	Missense_Mutation	novel	I354V	0.41
UCEC	chr3	10023739	5'Flank	novel		0.49
UCEC	chr3	10087134	Splice_Region	novel	S1112S	0.14
UCEC	chr3	10087255	Nonsense_Mutation	novel	E1153*	0.14
UCEC	chr3	10098972	Intron	novel		0.21
UCEC	chr3	10039959	Intron	novel		0.36
UCEC	chr3	10023733	5'Flank	novel		0.3
UCEC	chr3	10043849	Silent	novel	S373S	0.2
UCEC	chr3	10072875	Silent	novel	T833T	0.11
UCEC	chr3	10067277	Silent	NA	H818H	0.37
UCEC	chr3	10081170	Frame_Shift_Del	novel	*Q1018Nfs3**	0.42
UCEC	chr3	10062150	Splice_Site	novel	X589_splice	0.37
UCEC	chr3	10052430	Missense_Mutation	NA	R530Q	0.46
UCEC	chr3	10042581	Missense_Mutation	novel	K269T	0.44
UCEC	chr3	10047916	Splice_Site	novel	X427_splice	0.17
UCEC	chr3	10062193	Silent	rs367551904	S603S	0.51
UCEC	chr3	10063870	Missense_Mutation	novel	A636T	0.3
UCEC	chr3	10092209	Missense_Mutation	novel	N1269S	0.33
UCEC	chr3	10096410	Missense_Mutation	novel	L1375I	0.36
UCEC	chr3	10098820	Splice_Region	novel		0.47
UCEC	chr3	10101203	Missense_Mutation	rs755911397	E1433K	0.11
UCEC	chr3	10090378	Missense_Mutation	rs374940277	S1257L	0.32
UCEC	chr3	10036315	Missense_Mutation	novel	K156T	0.07
UCEC	chr3	10096339	Missense_Mutation	rs775898191	T1351M	0.29
UCEC	chr3	10081154	Nonsense_Mutation	NA	E1011*	0.47
UCEC	chr3	10063858	Missense_Mutation	novel	Y632H	0.06
UCEC	chr3	10067309	Missense_Mutation	novel	Y829C	0.18
UCEC	chr3	10088476	Missense_Mutation	rs549507714	R1165Q	0.29
UCEC	chr3	10046633	Silent	novel	K396K	0.16
UCEC	chr3	10085813	Missense_Mutation	novel	S1076G	0.24
UCEC	chr3	10096461	Missense_Mutation	rs368195150	R1392W	0.31
UCEC	chr3	10049494	Missense_Mutation	rs749868748	V512L	0.08
UCEC	chr3	10088501	Missense_Mutation	novel	E1173D	0.35
UCEC	chr3	10101203	Missense_Mutation	rs755911397	E1433K	0.41
UCEC	chr3	10036323	Nonsense_Mutation	NA	E159*	0.41
UCEC	chr3	10099107	Intron	novel		0.53
UCEC	chr3	10060298	Missense_Mutation	novel	D554G	0.48
UCEC	chr3	10101382	3'UTR	novel		0.51
UCEC	chr3	10073311	Missense_Mutation	novel	E888D	0.27
UCEC	chr3	10098970	Intron	novel		0.09
UCEC	chr3	10042647	Missense_Mutation	novel	A291D	0.29
UCEC	chr3	10049492	Missense_Mutation	rs535880276	A511V	0.18
UCEC	chr3	10088887	Missense_Mutation	novel	G1207D	0.39
UCEC	chr3	10040314	Intron	novel		0.5
UCEC	chr3	10090297	Missense_Mutation	rs773540135	T1230I	0.39
UCEC	chr3	10064362	Missense_Mutation	novel	V652I	0.13
UCEC	chr3	10062211	Missense_Mutation	NA	Q609H	0.33
UCEC	chr3	10081479	Intron	novel		0.06
UCEC	chr3	10064355	Splice_Site	novel	X650_splice	0.25
UCEC	chr3	10040509	Intron	novel		0.13
UCEC	chr3	10034719	Silent	novel	L100L	0.1
UCEC	chr3	10042587	Missense_Mutation	rs766821340	S271L	0.49
UCEC	chr3	10041545	Intron	novel		0.37
UCEC	chr3	10088895	Nonsense_Mutation	NA	E1210*	0.3
UCEC	chr3	10040456	Intron	novel		0.38
UCEC	chr3	10092220	Nonsense_Mutation	rs745930696	R1273*	0.3
UCEC	chr3	10032927	Missense_Mutation	novel	I54L	0.21
UCEC	chr3	10096325	Splice_Site	novel	X1347_splice	0.35
UCEC	chr3	10098820	Splice_Region	novel		0.19
UCEC	chr3	10043494	Missense_Mutation	novel	N334H	0.45
UCEC	chr3	10043566	Missense_Mutation	novel	K358E	0.24
UCEC	chr3	10023675	5'Flank	novel		0.48
UCEC	chr3	10052429	Nonsense_Mutation	NA	R530*	0.32
UCEC	chr3	10065428	Missense_Mutation	rs752621186	R735W	0.39
UCEC	chr3	10098867	Intron	novel		0.49
UCEC	chr3	10101216	Missense_Mutation	novel	G1437E	0.46
UCEC	chr3	10023693	5'Flank	novel		0.31
UCEC	chr3	10088475	Missense_Mutation	rs759348779	R1165W	0.4
UCS	chr3	10101219	Missense_Mutation	novel	E1438G	0.11
UVM	chr3	10098878	Intron	novel		0.45

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
CHOL	DEL	0.75	0.02241
COAD	DEL	0.1308	0.010931
KIRC	DEL	0.8466	2.8873e-53
LUAD	DEL	0.3062	0.068154
SKCM	DEL	0.1553	0.13887
TGCT	DEL	0.2133	0.08422
THYM	DEL	0.0813	0.037527

Survival Analysis

Cancer	P-value	Q-value
THYM	0.0024	Kaplan-Meier Survival Analysis
KIRC	0.00017	Kaplan-Meier Survival Analysis
STAD	0.0095	Kaplan-Meier Survival Analysis
SARC	0.019	Kaplan-Meier Survival Analysis
MESO	0.00013	Kaplan-Meier Survival Analysis
ACC	0.00032	Kaplan-Meier Survival Analysis
SKCM	0.032	Kaplan-Meier Survival Analysis
KIRP	0.00079	Kaplan-Meier Survival Analysis
PAAD	0.0061	Kaplan-Meier Survival Analysis
PCPG	0.0066	Kaplan-Meier Survival Analysis
READ	0.00029	Kaplan-Meier Survival Analysis
KICH	0.0043	Kaplan-Meier Survival Analysis
UCEC	0.018	Kaplan-Meier Survival Analysis
LIHC	0.0001	Kaplan-Meier Survival Analysis
DLBC	0.016	Kaplan-Meier Survival Analysis
LGG	0.0001	Kaplan-Meier Survival Analysis
LUAD	0.00041	Kaplan-Meier Survival Analysis
OV	0.00034	Kaplan-Meier Survival Analysis

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathway

Phenotype

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
Specie: Homo_sapiens
Strand: Plus strand
Length: 75,546 bases
Position: chr3:10,026,387-10,101,932
Accession: 3585
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)

PID	Title	Method	Time	Author	Doi
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
30650351	Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination.	Cell Rep	2019 Jan 15	Liang Z	doi: 10.1016/j.celrep.2018.12.084.

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000287647	FANCD2-201	5219	-	ENSP00000287647	1471 (aa)	-	Q9BXW9
ENST00000483276	FANCD2-212	505	-	-	- (aa)	-	-
ENST00000421731	FANCD2-204	3425	-	ENSP00000389936	749 (aa)	-	H7BZJ7
ENST00000431693	FANCD2-205	2450	-	ENSP00000399354	241 (aa)	-	Q9BXW9
ENST00000438741	FANCD2-207	558	-	-	- (aa)	-	-
ENST00000419585	FANCD2-203	5185	-	ENSP00000398754	1451 (aa)	-	Q9BXW9
ENST00000470028	FANCD2-209	449	-	-	- (aa)	-	-
ENST00000383807	FANCD2-202	5102	-	ENSP00000373318	1451 (aa)	-	Q9BXW9
ENST00000625535	FANCD2-213	117	-	ENSP00000486945	38 (aa)	-	F8WE37
ENST00000480909	FANCD2-211	603	-	-	- (aa)	-	-
ENST00000464934	FANCD2-208	563	-	-	- (aa)	-	-
ENST00000435522	FANCD2-206	567	-	ENSP00000402166	38 (aa)	-	F8WE37
ENST00000470757	FANCD2-210	547	-	-	- (aa)	-	-

Gene Model

Click here to download ENSG00000144554's gene model file

Pathway

Pathway ID	Pathway Name	Source
hsa03460	Fanconi anemia pathway	KEGG

Phenotype

ensgID	Trait	pValue	Pubmed ID
ENSG00000144554	Atherosclerosis	6.4642936E-005	-
ENSG00000144554	Bronchodilator Agents	3E-6	26634245
ENSG00000144554	Lung Volume Measurements	3E-6	26634245
ENSG00000144554	Alzheimer Disease	2E-6	24755620

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000144554	rs76041173	3	10037011	T	Blood protein levels	29875488	[1.14-1.34] unit decrease	1.24	EFO_0007937
ENSG00000144554	rs143915539	3	10086675	T	Post bronchodilator FEV1/FVC ratio	26634245	unit increase	0.075	GO_0097366\|EFO_0004713
ENSG00000144554	rs1552244	3	10093893	A	Alzheimer's disease	24755620	[NR]	1.32	EFO_0000249

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000144554's network

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000793	condensed chromosome	21873635.	IBA	Component
GO:0005515	protein binding	12874027.15115758.17460694.18212739.19609304.20603015.20603016.20603073.20805509.	IPI	Function
GO:0005634	nucleus	21873635.	IBA	Component
GO:0005634	nucleus	26323318.	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0005730	nucleolus	-	IDA	Component
GO:0005829	cytosol	-	IDA	Component
GO:0006281	DNA repair	21873635.	IBA	Process
GO:0007129	synapsis	-	IEA	Process
GO:0007276	gamete generation	-	IEA	Process
GO:0010332	response to gamma radiation	12874027.	IDA	Process
GO:0016604	nuclear body	-	IDA	Component
GO:0034599	cellular response to oxidative stress	-	IEA	Process
GO:0036297	interstrand cross-link repair	-	TAS	Process
GO:0045589	regulation of regulatory T cell differentiation	-	IEA	Process
GO:0048854	brain morphogenesis	-	IEA	Process
GO:0050727	regulation of inflammatory response	-	IEA	Process
GO:0051090	regulation of DNA-binding transcription factor activity	-	IEA	Process
GO:0070182	DNA polymerase binding	21873635.	IBA	Function
GO:0070182	DNA polymerase binding	19995904.	IPI	Function
GO:0097150	neuronal stem cell population maintenance	-	IEA	Process
GO:2000348	regulation of CD40 signaling pathway	-	IEA	Process

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