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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for FANCD2
check button Gene summary
Basic gene informationGene symbolFANCD2
Gene nameFanconi anemia, complementation group D2
SynonymsFA-D2|FA4|FACD|FAD|FAD2|FANCD
CytomapUCSC genome browser: 3p26
Type of geneprotein-coding
RefGenesNM_001018115.1,
NM_033084.3,
DescriptionFanconi anemia group D2 protein
Modification date20141219
dbXrefs MIM : 613984
HGNC : HGNC
Ensembl : ENSG00000144554
HPRD : 01968
Vega : OTTHUMG00000128670
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FANCD2
BioGPS: 2177
PathwayNCI Pathway Interaction Database: FANCD2
KEGG: FANCD2
REACTOME: FANCD2
Pathway Commons: FANCD2
ContextiHOP: FANCD2
ligand binding site mutation search in PubMed: FANCD2
UCL Cancer Institute: FANCD2
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)StomachTestis
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)STADTGCT
Reference showing the relevant tissue of FANCD2
Description by TissGene annotationsCancer gene
Fused withTSGene
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0010332response to gamma radiation12874027
GO:0010332response to gamma radiation12874027


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TissGeneExp for FANCD2

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
BRCA1.8966804290.4624979731.4341824561.06E-239.67E-23
LUAD1.189707501-0.3289131881.518620693.46E-207.19E-19
LUSC2.12568786-0.0121297872.1378176471.45E-295.83E-28
LIHC0.188558605-2.0714453952.2600041.57E-154.98E-14
KIRP0.45578498-0.6385681451.0943531253.93E-082.63E-07
COAD2.0856582971.0007698361.0848884623.64E-072.26E-06
STAD1.66132248-0.273890021.93521254.16E-081.36E-06
ESCA2.229268787-0.2172584862.4465272730.0002360.005767736
BLCA2.4962611310.2680506052.2282105268.99E-060.000176936


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TissGene-miRNA for FANCD2

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for FANCD2
TissGeneSNV for FANCD2

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.Q802HESCA5
p.S452LSKCM3
p.Q802HPCPG2
p.L270SSTAD1
p.R408XSKCM1
p.S1257WLUAD1
p.S1157ASKCM1
p.S1404FSKCM1
p.F1223LSKCM1
p.S1287NLGG1
p.A731VBRCA1
p.S1429FSKCM1
p.A511TSTAD1
p.G1101RSKCM1
p.Q802HPRAD1
p.S780LGBM1
p.P625SHNSC1
p.F258VLGG1
p.S433LBLCA1
p.L51RLIHC1
p.E369GLGG1
p.A587TCOAD1
p.K396NUCEC1
p.I1177VSTAD1
p.Q802HCHOL1
p.Y520XDLBC1
p.S433LSKCM1
p.E927QBLCA1
p.E1173QBLCA1
p.R926*PAAD1
p.G1343ELIHC1
p.C1130*PRAD1
p.N1280KSTAD1
p.A600GLUAD1
p.F161VBLCA1
p.E376KHNSC1
p.S898YREAD1
p.K828TESCA1
p.G685ABLCA1
p.E642KSKCM1
p.S1195NSTAD1
p.C1309FLUAD1
p.G339SUCEC1
p.R735WUCEC1
p.Q527*STAD1
p.D522GREAD1
p.R870KUCEC1
p.E1210*UCEC1
p.Q1395*STAD1
p.E807DKIRC1
p.D430NSKCM1
p.Q527XSTAD1
p.R408*SKCM1
p.K195ECOAD1
p.C432RUCEC1
p.L497VBLCA1
p.D659NSKCM1
p.E1438GUCS1
p.V725MPRAD1
p.L1291MUCEC1
p.E1445AUCEC1
p.P732LCESC1
p.P1468LSKCM1
p.Q1080EESCA1
p.L1134VBRCA1
p.L456FSKCM1
p.A1159VLUAD1
p.M197ISKCM1
p.Y1457CSTAD1
p.E687KSKCM1
p.L428FSKCM1
p.E230*UCEC1
p.E742*ESCA1
p.E964KBLCA1
p.G484RSKCM1
p.E1153KPAAD1
p.V670ATHCA1
p.V266LBLCA1
p.R5TBLCA1
p.R997QLGG1
p.A291TSTAD1
p.L436MBLCA1
p.P852SSTAD1
p.E1262DBLCA1
p.E1153KLGG1
p.Q802HSTAD1
p.R355KHNSC1
p.R530*UCEC1
p.E217KSTAD1
p.Q1010RHNSC1
p.Q1395XSTAD1
p.R735QKICH1
p.R1236CBLCA1
p.L699FBRCA1
p.R174QDLBC1
p.P593LCOAD1
p.S1148PSKCM1
p.D19YBLCA1
p.L312WBLCA1
p.N746KBLCA1
p.A682VUCEC1
p.D753NBLCA1
p.P1311SMESO1
p.S250THNSC1
p.S452LBLCA1
p.I142FSTAD1
p.G1437CLUAD1
p.C801RGBM1
p.S1157FSKCM1
p.Q544HHNSC1
p.E742XESCA1
p.F1275LSTAD1
p.E766*BRCA1
p.T1351MUCEC1
p.A1373DUCEC1
p.Q802HACC1
p.H1014NREAD1
p.Q440*BRCA1
p.M581TLIHC1
p.M1238ITHYM1
p.P672LPAAD1
p.R185THNSC1
p.D1217NSKCM1
p.P732LSKCM1
p.E650*OV1


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TissGeneCNV for FANCD2

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for FANCD2

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNAAW867801PCNX-FANCD2chr14:71436211chr3:10136927
Chimerdb3.0FusionScanBRCATCGA-D8-A1JM-01AFANCD2-MTMR14In-Framechr3:10074656chr3:9719000
Chimerdb3.0FusionScanESCATCGA-R6-A8W5-01BKDM6A-FANCD2In-FramechrX:44733233chr3:10105475
Chimerdb3.0FusionScanESCATCGA-L5-A4OQ-01ATATDN2-FANCD2In-Framechr3:10291298chr3:10142871
TCGAfusionPortalPRADABRCATCGA-D8-A1JM-01AFANCD2-MTMR14In-frameChr3:10074656Chr3:9719001


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TissGeneNet for FANCD2

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
FANCD2, BRCA1, UBC, TNFRSF1A, MEN1, RAD51, FANCI, TERF1, TNFRSF1B, USP1, ATR, PCNA, IPO4, MDC1, BRCA2, BLM, ATM, RAD18, MRE11A, FANCG, FANCC (tumor)FANCD2, BRCA1, TNFRSF1A, RAD51, FANCI, TERF1, USP1, ATR, PCNA, MDC1, CEBPD, BRCA2, NBN, BLM, RAD18, MRE11A, FANCG, H2AFX, FANCC, FANCE, DCLRE1B (normal)
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COAD (tumor)COAD (normal)
FANCD2, KAT5, BRCA1, MEN1, RAD51, MYC, FANCI, TERF1, USP1, WDR48, ATR, PCNA, IPO4, BRCA2, BLM, RAD18, FANCG, H2AFX, FANCC, FANCE, DCLRE1B (tumor)FANCD2, BRCA1, UBC, TNFRSF1A, RAD51, MYC, FANCI, USP1, ATR, PCNA, IPO4, MDC1, FOXO3, BRCA2, BLM, RAD18, FANCG, H2AFX, FANCC, FANCE, DCLRE1B (normal)
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HNSC (tumor)HNSC (normal)
FANCD2, BRCA1, TRAF6, MEN1, RAD51, FANCI, TNFRSF1B, USP1, ATR, PCNA, IPO4, BRCA2, RAD18, MRE11A, FANCG, H2AFX, FSCN1, FANCC, FANCE, POLN, DCLRE1B (tumor)FANCD2, BRCA1, UBC, TNFRSF1A, RAD51, FANCI, USP1, WDR48, ATR, PCNA, MDC1, BRCA2, NBN, BLM, TNKS, RAD18, FANCG, H2AFX, FANCC, FANCE, DCLRE1B (normal)
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KICH (tumor)KICH (normal)
FANCD2, KAT5, BRCA1, TNFRSF1A, RAD51, FANCI, TNFRSF1B, WDR48, ATR, PCNA, IPO4, MDC1, BRCA2, BLM, ATM, RAD18, MRE11A, FANCG, H2AFX, FANCC, FANCE (tumor)FANCD2, KAT5, BRCA1, RAD51, FANCI, TERF1, USP1, WDR48, ATR, PCNA, IPO4, UBA52, BRCA2, BLM, ATM, TNKS, RAD18, FANCG, FANCC, FANCE, DCLRE1B (normal)
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KIRC (tumor)KIRC (normal)
FANCD2, BRCA1, RAD51, FANCI, USP1, ATR, PCNA, MDC1, BRCA2, NBN, BLM, ATM, TNKS, RAD18, MRE11A, FANCG, H2AFX, FSCN1, FANCC, FANCE, DCLRE1B (tumor)FANCD2, KAT5, BRCA1, RAD51, FANCI, WDR48, ATR, PCNA, MDC1, BRCA2, BLM, ATM, TNKS, RAD18, MRE11A, FANCG, H2AFX, FANCC, FANCE, POLN, DCLRE1B (normal)
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KIRP (tumor)KIRP (normal)
FANCD2, BRCA1, RAD51, FANCI, TNFRSF1B, USP1, WDR48, ATR, PCNA, MDC1, BRCA2, NBN, BLM, ATM, RAD18, MRE11A, FANCG, H2AFX, FANCC, FANCE, DCLRE1B (tumor)FANCD2, KAT5, BRCA1, RAD51, FANCI, TERF1, USP1, WDR48, ATR, PCNA, BRCA2, NBN, BLM, ATM, TNKS, RAD18, MRE11A, FANCG, H2AFX, FANCE, DCLRE1B (normal)
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LIHC (tumor)LIHC (normal)
FANCD2, TNFRSF1A, RAD51, FANCI, WDR48, ATR, PCNA, IPO4, MDC1, CEBPD, BRCA2, NBN, BLM, ATM, TNKS, RAD18, MRE11A, FANCG, FSCN1, FANCE, DCLRE1B (tumor)FANCD2, BRCA1, TNFRSF1A, RAD51, FANCI, USP1, ATR, PCNA, MDC1, CEBPD, BRCA2, BLM, ATM, RAD18, MRE11A, FANCG, H2AFX, FANCC, FANCE, POLN, DCLRE1B (normal)
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LUAD (tumor)LUAD (normal)
FANCD2, BRCA1, MEN1, RAD51, FANCI, TERF1, TNFRSF1B, USP1, ATR, PCNA, IPO4, CEBPD, FOXO3, BRCA2, NBN, BLM, ATM, MRE11A, FANCG, H2AFX, FANCE (tumor)FANCD2, KAT5, BRCA1, RAD51, MYC, FANCI, USP1, ATR, PCNA, IPO4, MDC1, CEBPD, BRCA2, NBN, BLM, RAD18, MRE11A, FANCG, H2AFX, FANCC, DCLRE1B (normal)
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LUSC (tumor)LUSC (normal)
FANCD2, KAT5, BRCA1, TRAF6, UBC, TNFRSF1A, MEN1, RAD51, FANCI, ATR, PCNA, CEBPD, FOXO3, BRCA2, BLM, ATM, RAD18, MRE11A, FANCG, FANCE, POLN (tumor)FANCD2, BRCA1, TNFRSF1A, MEN1, RAD51, MYC, FANCI, TERF1, TNFRSF1B, USP1, ATR, PCNA, MDC1, BRCA2, NBN, BLM, RAD18, MRE11A, FANCG, H2AFX, FANCC (normal)
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PRAD (tumor)PRAD (normal)
FANCD2, KAT5, BRCA1, TRAF6, RAD51, MYC, FANCI, TERF1, TNFRSF1B, WDR48, ATR, BRCA2, NBN, BLM, TNKS, RAD18, MRE11A, FANCG, FANCC, FANCE, DCLRE1B (tumor)FANCD2, BRCA1, TNFRSF1A, RAD51, FANCI, TERF1, USP1, ATR, PCNA, IPO4, MDC1, CEBPD, BRCA2, NBN, BLM, RAD18, MRE11A, FANCG, FANCC, FANCE, DCLRE1B (normal)
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STAD (tumor)STAD (normal)
FANCD2, KAT5, MEN1, RAD51, FANCI, TERF1, WDR48, PCNA, IPO4, MDC1, CEBPD, BRCA2, NBN, BLM, ATM, FANCG, H2AFX, FSCN1, FANCC, FANCE, DCLRE1B (tumor)FANCD2, BRCA1, TNFRSF1A, MEN1, RAD51, FANCI, USP1, ATR, PCNA, IPO4, MDC1, CEBPD, BRCA2, NBN, BLM, RAD18, MRE11A, FANCG, FANCC, FANCE, DCLRE1B (normal)
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THCA (tumor)THCA (normal)
FANCD2, KAT5, BRCA1, TRAF6, MEN1, RAD51, MYC, FANCI, TERF1, TNFRSF1B, WDR48, PCNA, UBA52, BRCA2, BLM, ATM, RAD18, FANCG, H2AFX, FSCN1, FANCE (tumor)FANCD2, KAT5, BRCA1, TNFRSF1A, MEN1, RAD51, MYC, FANCI, TNFRSF1B, USP1, PCNA, BRCA2, NBN, BLM, ATM, TNKS, RAD18, MRE11A, FANCG, FANCE, DCLRE1B (normal)
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TissGeneProg for FANCD2

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for FANCD2
TissGeneDrug for FANCD2

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for FANCD2

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0015625Fanconi Anemia114BeFree,CTD_human,LHGDN,ORPHANET
umls:C3469521FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)99BeFree
umls:C0006142Malignant neoplasm of breast17BeFree,GAD
umls:C0678222Breast Carcinoma11BeFree
umls:C0029925Ovarian Carcinoma4BeFree
umls:C1140680Malignant neoplasm of ovary4BeFree
umls:C1336076Sporadic Breast Carcinoma4BeFree
umls:C1458155Mammary Neoplasms4BeFree,LHGDN
umls:C0004135Ataxia Telangiectasia3BeFree
umls:C0008626Congenital chromosomal disease3BeFree
umls:C0023418leukemia3BeFree
umls:C0497327Dementia3BeFree
umls:C0596263Carcinogenesis3BeFree
umls:C3160738FANCONI ANEMIA, COMPLEMENTATION GROUP D23BeFree,CLINVAR,CTD_human,MGD,UNIPROT
umls:C0009404Colorectal Neoplasms2BeFree,GAD
umls:C0011265Presenile dementia2BeFree
umls:C0011860Diabetes Mellitus, Non-Insulin-Dependent2BeFree
umls:C0017638Glioma2BeFree
umls:C0023473Myeloid Leukemia, Chronic2BeFree
umls:C0026764Multiple Myeloma2BeFree
umls:C0278996Cancer of Head and Neck2BeFree
umls:C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2BeFree
umls:C2936791Antley-Bixler Syndrome, Autosomal Dominant2BeFree
umls:C0000768Congenital Abnormality1BeFree,LHGDN
umls:C0001418Adenocarcinoma1BeFree
umls:C0005684Malignant neoplasm of urinary bladder1GAD
umls:C0005859Bloom Syndrome1LHGDN
umls:C0009402Colorectal Carcinoma1BeFree
umls:C0014599Epithelial hyperplasia1BeFree
umls:C0018133Graft-vs-Host Disease1BeFree
umls:C0018671Head and Neck Neoplasms1GAD
umls:C0022116Ischemia1BeFree
umls:C0023467Leukemia, Myelocytic, Acute1LHGDN
umls:C0023470Myeloid Leukemia1BeFree
umls:C0025500Mesothelioma1BeFree
umls:C0025517Metabolic Diseases1BeFree
umls:C0026946Mycoses1BeFree
umls:C0027627Neoplasm Metastasis1BeFree
umls:C0027643Neoplasm Recurrence, Local1GAD
umls:C0030312Pancytopenia1BeFree
umls:C0037286Skin Neoplasms1BeFree
umls:C0040336Tobacco Use Disorder1GAD
umls:C0043119Werner Syndrome1BeFree
umls:C0085159Seasonal Affective Disorder1BeFree
umls:C0085183Neoplasms, Second Primary1GAD
umls:C0220633Uveal melanoma1BeFree
umls:C0235974Pancreatic carcinoma1BeFree
umls:C0276496Familial Alzheimer Disease (FAD)1BeFree
umls:C0338457Aphasia, Progressive1BeFree
umls:C0342276Maturity onset diabetes mellitus in young1BeFree
umls:C0346153Breast Cancer, Familial1BeFree
umls:C0346647Malignant neoplasm of pancreas1BeFree
umls:C0376358Malignant neoplasm of prostate1GAD
umls:C0521158Recurrent tumor1BeFree
umls:C0598766Leukemogenesis1BeFree
umls:C0677886Epithelial ovarian cancer1GAD
umls:C0750901Alzheimer Disease, Early Onset1BeFree
umls:C0750952Biliary Tract Cancer1BeFree
umls:C0751688Malignant Squamous Cell Neoplasm1BeFree
umls:C0752347Lewy Body Disease1BeFree
umls:C0853879Invasive breast carcinoma1BeFree
umls:C0856825Acute GVH disease1BeFree
umls:C1167791Skin toxicity1BeFree
umls:C1292769Precursor B-cell lymphoblastic leukemia1BeFree
umls:C1318485Liver regeneration disorder1BeFree
umls:C1519346Skin Carcinogenesis1BeFree
umls:C1527249Colorectal Cancer1BeFree
umls:C1559154Rash and Dermatitis Adverse Event Associated with Chemoradiation1BeFree
umls:C1839780FRAGILE X TREMOR/ATAXIA SYNDROME1BeFree
umls:C2239176Liver carcinoma1BeFree
umls:C2931245Bone Marrow failure syndromes1BeFree
umls:C3463824MYELODYSPLASTIC SYNDROME1LHGDN
umls:C3828416Radiation Damage1BeFree