TissGeneSummary for FANCD2 |
Gene summary |
Basic gene information | Gene symbol | FANCD2 |
Gene name | Fanconi anemia, complementation group D2 | |
Synonyms | FA-D2|FA4|FACD|FAD|FAD2|FANCD | |
Cytomap | UCSC genome browser: 3p26 | |
Type of gene | protein-coding | |
RefGenes | NM_001018115.1, NM_033084.3, | |
Description | Fanconi anemia group D2 protein | |
Modification date | 20141219 | |
dbXrefs | MIM : 613984 | |
HGNC : HGNC | ||
Ensembl : ENSG00000144554 | ||
HPRD : 01968 | ||
Vega : OTTHUMG00000128670 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FANCD2 | |
BioGPS: 2177 | ||
Pathway | NCI Pathway Interaction Database: FANCD2 | |
KEGG: FANCD2 | ||
REACTOME: FANCD2 | ||
Pathway Commons: FANCD2 | ||
Context | iHOP: FANCD2 | |
ligand binding site mutation search in PubMed: FANCD2 | ||
UCL Cancer Institute: FANCD2 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,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 annotations | Cancer 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. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0010332 | response to gamma radiation | 12874027 | GO:0010332 | response to gamma radiation | 12874027 |
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TissGeneExp for FANCD2 |
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 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 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. |
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) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
BRCA | 1.896680429 | 0.462497973 | 1.434182456 | 1.06E-23 | 9.67E-23 |
LUAD | 1.189707501 | -0.328913188 | 1.51862069 | 3.46E-20 | 7.19E-19 |
LUSC | 2.12568786 | -0.012129787 | 2.137817647 | 1.45E-29 | 5.83E-28 |
LIHC | 0.188558605 | -2.071445395 | 2.260004 | 1.57E-15 | 4.98E-14 |
KIRP | 0.45578498 | -0.638568145 | 1.094353125 | 3.93E-08 | 2.63E-07 |
COAD | 2.085658297 | 1.000769836 | 1.084888462 | 3.64E-07 | 2.26E-06 |
STAD | 1.66132248 | -0.27389002 | 1.9352125 | 4.16E-08 | 1.36E-06 |
ESCA | 2.229268787 | -0.217258486 | 2.446527273 | 0.000236 | 0.005767736 |
BLCA | 2.496261131 | 0.268050605 | 2.228210526 | 8.99E-06 | 0.000176936 |
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TissGene-miRNA for FANCD2 |
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 type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for FANCD2 |
TissGeneSNV for FANCD2 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.Q802H | ESCA | 5 |
p.S452L | SKCM | 3 |
p.Q802H | PCPG | 2 |
p.L270S | STAD | 1 |
p.R408X | SKCM | 1 |
p.S1257W | LUAD | 1 |
p.S1157A | SKCM | 1 |
p.S1404F | SKCM | 1 |
p.F1223L | SKCM | 1 |
p.S1287N | LGG | 1 |
p.A731V | BRCA | 1 |
p.S1429F | SKCM | 1 |
p.A511T | STAD | 1 |
p.G1101R | SKCM | 1 |
p.Q802H | PRAD | 1 |
p.S780L | GBM | 1 |
p.P625S | HNSC | 1 |
p.F258V | LGG | 1 |
p.S433L | BLCA | 1 |
p.L51R | LIHC | 1 |
p.E369G | LGG | 1 |
p.A587T | COAD | 1 |
p.K396N | UCEC | 1 |
p.I1177V | STAD | 1 |
p.Q802H | CHOL | 1 |
p.Y520X | DLBC | 1 |
p.S433L | SKCM | 1 |
p.E927Q | BLCA | 1 |
p.E1173Q | BLCA | 1 |
p.R926* | PAAD | 1 |
p.G1343E | LIHC | 1 |
p.C1130* | PRAD | 1 |
p.N1280K | STAD | 1 |
p.A600G | LUAD | 1 |
p.F161V | BLCA | 1 |
p.E376K | HNSC | 1 |
p.S898Y | READ | 1 |
p.K828T | ESCA | 1 |
p.G685A | BLCA | 1 |
p.E642K | SKCM | 1 |
p.S1195N | STAD | 1 |
p.C1309F | LUAD | 1 |
p.G339S | UCEC | 1 |
p.R735W | UCEC | 1 |
p.Q527* | STAD | 1 |
p.D522G | READ | 1 |
p.R870K | UCEC | 1 |
p.E1210* | UCEC | 1 |
p.Q1395* | STAD | 1 |
p.E807D | KIRC | 1 |
p.D430N | SKCM | 1 |
p.Q527X | STAD | 1 |
p.R408* | SKCM | 1 |
p.K195E | COAD | 1 |
p.C432R | UCEC | 1 |
p.L497V | BLCA | 1 |
p.D659N | SKCM | 1 |
p.E1438G | UCS | 1 |
p.V725M | PRAD | 1 |
p.L1291M | UCEC | 1 |
p.E1445A | UCEC | 1 |
p.P732L | CESC | 1 |
p.P1468L | SKCM | 1 |
p.Q1080E | ESCA | 1 |
p.L1134V | BRCA | 1 |
p.L456F | SKCM | 1 |
p.A1159V | LUAD | 1 |
p.M197I | SKCM | 1 |
p.Y1457C | STAD | 1 |
p.E687K | SKCM | 1 |
p.L428F | SKCM | 1 |
p.E230* | UCEC | 1 |
p.E742* | ESCA | 1 |
p.E964K | BLCA | 1 |
p.G484R | SKCM | 1 |
p.E1153K | PAAD | 1 |
p.V670A | THCA | 1 |
p.V266L | BLCA | 1 |
p.R5T | BLCA | 1 |
p.R997Q | LGG | 1 |
p.A291T | STAD | 1 |
p.L436M | BLCA | 1 |
p.P852S | STAD | 1 |
p.E1262D | BLCA | 1 |
p.E1153K | LGG | 1 |
p.Q802H | STAD | 1 |
p.R355K | HNSC | 1 |
p.R530* | UCEC | 1 |
p.E217K | STAD | 1 |
p.Q1010R | HNSC | 1 |
p.Q1395X | STAD | 1 |
p.R735Q | KICH | 1 |
p.R1236C | BLCA | 1 |
p.L699F | BRCA | 1 |
p.R174Q | DLBC | 1 |
p.P593L | COAD | 1 |
p.S1148P | SKCM | 1 |
p.D19Y | BLCA | 1 |
p.L312W | BLCA | 1 |
p.N746K | BLCA | 1 |
p.A682V | UCEC | 1 |
p.D753N | BLCA | 1 |
p.P1311S | MESO | 1 |
p.S250T | HNSC | 1 |
p.S452L | BLCA | 1 |
p.I142F | STAD | 1 |
p.G1437C | LUAD | 1 |
p.C801R | GBM | 1 |
p.S1157F | SKCM | 1 |
p.Q544H | HNSC | 1 |
p.E742X | ESCA | 1 |
p.F1275L | STAD | 1 |
p.E766* | BRCA | 1 |
p.T1351M | UCEC | 1 |
p.A1373D | UCEC | 1 |
p.Q802H | ACC | 1 |
p.H1014N | READ | 1 |
p.Q440* | BRCA | 1 |
p.M581T | LIHC | 1 |
p.M1238I | THYM | 1 |
p.P672L | PAAD | 1 |
p.R185T | HNSC | 1 |
p.D1217N | SKCM | 1 |
p.P732L | SKCM | 1 |
p.E650* | OV | 1 |
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TissGeneCNV for FANCD2 |
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) |
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TissGeneFusions for FANCD2 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | AW867801 | PCNX-FANCD2 | chr14:71436211 | chr3:10136927 | |
Chimerdb3.0 | FusionScan | BRCA | TCGA-D8-A1JM-01A | FANCD2-MTMR14 | In-Frame | chr3:10074656 | chr3:9719000 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-R6-A8W5-01B | KDM6A-FANCD2 | In-Frame | chrX:44733233 | chr3:10105475 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A4OQ-01A | TATDN2-FANCD2 | In-Frame | chr3:10291298 | chr3:10142871 |
TCGAfusionPortal | PRADA | BRCA | TCGA-D8-A1JM-01A | FANCD2-MTMR14 | In-frame | Chr3:10074656 | Chr3:9719001 |
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TissGeneNet for FANCD2 |
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) |
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TissGeneProg for FANCD2 |
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. |
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. |
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. |
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. |
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TissGeneClin for FANCD2 |
TissGeneDrug for FANCD2 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for FANCD2 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0015625 | Fanconi Anemia | 114 | BeFree,CTD_human,LHGDN,ORPHANET |
umls:C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 99 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 17 | BeFree,GAD |
umls:C0678222 | Breast Carcinoma | 11 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 4 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 4 | BeFree |
umls:C1336076 | Sporadic Breast Carcinoma | 4 | BeFree |
umls:C1458155 | Mammary Neoplasms | 4 | BeFree,LHGDN |
umls:C0004135 | Ataxia Telangiectasia | 3 | BeFree |
umls:C0008626 | Congenital chromosomal disease | 3 | BeFree |
umls:C0023418 | leukemia | 3 | BeFree |
umls:C0497327 | Dementia | 3 | BeFree |
umls:C0596263 | Carcinogenesis | 3 | BeFree |
umls:C3160738 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | 3 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0009404 | Colorectal Neoplasms | 2 | BeFree,GAD |
umls:C0011265 | Presenile dementia | 2 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | BeFree |
umls:C0017638 | Glioma | 2 | BeFree |
umls:C0023473 | Myeloid Leukemia, Chronic | 2 | BeFree |
umls:C0026764 | Multiple Myeloma | 2 | BeFree |
umls:C0278996 | Cancer of Head and Neck | 2 | BeFree |
umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 2 | BeFree |
umls:C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | 2 | BeFree |
umls:C0000768 | Congenital Abnormality | 1 | BeFree,LHGDN |
umls:C0001418 | Adenocarcinoma | 1 | BeFree |
umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
umls:C0005859 | Bloom Syndrome | 1 | LHGDN |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0014599 | Epithelial hyperplasia | 1 | BeFree |
umls:C0018133 | Graft-vs-Host Disease | 1 | BeFree |
umls:C0018671 | Head and Neck Neoplasms | 1 | GAD |
umls:C0022116 | Ischemia | 1 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 1 | LHGDN |
umls:C0023470 | Myeloid Leukemia | 1 | BeFree |
umls:C0025500 | Mesothelioma | 1 | BeFree |
umls:C0025517 | Metabolic Diseases | 1 | BeFree |
umls:C0026946 | Mycoses | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
umls:C0027643 | Neoplasm Recurrence, Local | 1 | GAD |
umls:C0030312 | Pancytopenia | 1 | BeFree |
umls:C0037286 | Skin Neoplasms | 1 | BeFree |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0043119 | Werner Syndrome | 1 | BeFree |
umls:C0085159 | Seasonal Affective Disorder | 1 | BeFree |
umls:C0085183 | Neoplasms, Second Primary | 1 | GAD |
umls:C0220633 | Uveal melanoma | 1 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0276496 | Familial Alzheimer Disease (FAD) | 1 | BeFree |
umls:C0338457 | Aphasia, Progressive | 1 | BeFree |
umls:C0342276 | Maturity onset diabetes mellitus in young | 1 | BeFree |
umls:C0346153 | Breast Cancer, Familial | 1 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | GAD |
umls:C0521158 | Recurrent tumor | 1 | BeFree |
umls:C0598766 | Leukemogenesis | 1 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 1 | GAD |
umls:C0750901 | Alzheimer Disease, Early Onset | 1 | BeFree |
umls:C0750952 | Biliary Tract Cancer | 1 | BeFree |
umls:C0751688 | Malignant Squamous Cell Neoplasm | 1 | BeFree |
umls:C0752347 | Lewy Body Disease | 1 | BeFree |
umls:C0853879 | Invasive breast carcinoma | 1 | BeFree |
umls:C0856825 | Acute GVH disease | 1 | BeFree |
umls:C1167791 | Skin toxicity | 1 | BeFree |
umls:C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | BeFree |
umls:C1318485 | Liver regeneration disorder | 1 | BeFree |
umls:C1519346 | Skin Carcinogenesis | 1 | BeFree |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1559154 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | 1 | BeFree |
umls:C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |
umls:C2931245 | Bone Marrow failure syndromes | 1 | BeFree |
umls:C3463824 | MYELODYSPLASTIC SYNDROME | 1 | LHGDN |
umls:C3828416 | Radiation Damage | 1 | BeFree |