TissGeneSummary for FANCA |
Gene summary |
Basic gene information | Gene symbol | FANCA |
Gene name | Fanconi anemia, complementation group A | |
Synonyms | FA|FA-H|FA1|FAA|FACA|FAH|FANCH | |
Cytomap | UCSC genome browser: 16q24.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000135.2, NM_001018112.1,NM_001286167.1, | |
Description | Fanconi anemia group A proteinFanconi anemia, complementation group HFanconi anemia, type 1 | |
Modification date | 20141219 | |
dbXrefs | MIM : 607139 | |
HGNC : HGNC | ||
Ensembl : ENSG00000187741 | ||
HPRD : 06186 | ||
Vega : OTTHUMG00000173049 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FANCA | |
BioGPS: 2175 | ||
Pathway | NCI Pathway Interaction Database: FANCA | |
KEGG: FANCA | ||
REACTOME: FANCA | ||
Pathway Commons: FANCA | ||
Context | iHOP: FANCA | |
ligand binding site mutation search in PubMed: FANCA | ||
UCL Cancer Institute: FANCA | ||
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) | CervixTestis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCTGCT | |
Reference showing the relevant tissue of FANCA | ||
Description by TissGene annotations | Cancer gene Fused withOncogene |
* 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 |
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TissGeneExp for FANCA |
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 | -0.757202253 | -2.664132078 | 1.906929825 | 9.05E-26 | 9.40E-25 |
COAD | 1.095366235 | -0.476072226 | 1.571438462 | 5.12E-10 | 6.03E-09 |
KICH | -2.208624534 | -3.642104534 | 1.43348 | 1.55E-06 | 5.68E-06 |
KIRC | -1.512300645 | -3.642165923 | 2.129865278 | 6.86E-20 | 5.38E-19 |
LIHC | -0.340612534 | -1.351166534 | 1.010554 | 9.49E-06 | 4.02E-05 |
LUAD | 0.028102708 | -1.765930051 | 1.794032759 | 1.25E-22 | 3.55E-21 |
THCA | -1.625330635 | -2.87084928 | 1.245518644 | 6.18E-07 | 2.41E-06 |
KIRP | -0.953261409 | -3.615698909 | 2.6624375 | 1.45E-12 | 2.26E-11 |
STAD | 0.845419841 | -1.690177034 | 2.535596875 | 7.39E-08 | 2.14E-06 |
HNSC | 0.368800583 | -1.127148255 | 1.495948837 | 1.23E-09 | 1.90E-08 |
LUSC | 0.538339388 | -1.536237083 | 2.074576471 | 9.04E-24 | 1.68E-22 |
ESCA | 1.138862739 | -1.845391806 | 2.984254545 | 0.000293 | 0.006787833 |
BLCA | 0.826972308 | -2.117569797 | 2.944542105 | 8.79E-06 | 0.000175934 |
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TissGene-miRNA for FANCA |
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 |
UCS | hsa-miR-503-5p | MIMAT0002874 | 0.046 | -0.27 | 56 |
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TissGeneMut for FANCA |
TissGeneSNV for FANCA |
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.E542A | STAD | 1 |
p.G17C | MESO | 1 |
p.R163H | COAD | 1 |
p.A786V | STAD | 1 |
p.L1193R | ESCA | 1 |
p.L864I | UCEC | 1 |
p.D1359E | BLCA | 1 |
p.R917* | SKCM | 1 |
p.R917* | UCEC | 1 |
p.K143N | HNSC | 1 |
p.T1161M | UCEC | 1 |
p.T1161M | LGG | 1 |
p.A444V | STAD | 1 |
p.E1115K | LUAD | 1 |
p.K1244M | KIRP | 1 |
p.N1003H | UCEC | 1 |
p.K143R | OV | 1 |
p.T256I | SKCM | 1 |
p.P1222L | BLCA | 1 |
p.K522R | STAD | 1 |
p.L1211I | UCEC | 1 |
p.P442L | SKCM | 1 |
p.Q869E | LIHC | 1 |
p.L1056F | LGG | 1 |
p.L964F | UCEC | 1 |
p.R1053C | BRCA | 1 |
p.L617V | PAAD | 1 |
p.L964I | THYM | 1 |
p.R1011H | LUAD | 1 |
p.T1328A | KIRP | 1 |
p.M365I | COAD | 1 |
p.Y86N | PRAD | 1 |
p.Q382H | LUAD | 1 |
p.P643A | PRAD | 1 |
p.S616Y | UCEC | 1 |
p.L185I | UCEC | 1 |
p.T949N | UCEC | 1 |
p.A1446T | COAD | 1 |
p.A181V | DLBC | 1 |
p.E1351K | HNSC | 1 |
p.R163H | ESCA | 1 |
p.R1136G | PRAD | 1 |
p.S421N | UCEC | 1 |
p.P643A | STAD | 1 |
p.Q405H | LUAD | 1 |
p.E1015K | BRCA | 1 |
p.F476L | READ | 1 |
p.R212S | SARC | 1 |
p.E1310K | BLCA | 1 |
p.R1204W | UCEC | 1 |
p.R1084C | BRCA | 1 |
p.Q326* | BLCA | 1 |
p.L51M | UCEC | 1 |
p.G809D | BRCA | 1 |
p.C422Y | UCEC | 1 |
p.L424P | LIHC | 1 |
p.A1103D | BLCA | 1 |
p.A349V | BLCA | 1 |
p.G809D | COAD | 1 |
p.L1075P | LUSC | 1 |
p.E698K | BLCA | 1 |
p.R52L | BRCA | 1 |
p.L530I | LGG | 1 |
p.R52Q | BLCA | 1 |
p.N527I | LUAD | 1 |
p.A47V | ESCA | 1 |
p.M1024I | BLCA | 1 |
p.R1409W | CESC | 1 |
p.K453N | STAD | 1 |
p.D1147V | LIHC | 1 |
p.V107I | MESO | 1 |
p.D533N | HNSC | 1 |
p.R1419C | PRAD | 1 |
p.H1286N | PRAD | 1 |
p.T1161M | LUSC | 1 |
p.E1214Q | LUSC | 1 |
p.S734F | LUSC | 1 |
p.R1439T | BLCA | 1 |
p.S892F | SKCM | 1 |
p.E63Q | BLCA | 1 |
p.L1082F | SKCM | 1 |
p.N8K | KIRP | 1 |
p.G1039D | UCEC | 1 |
p.S75R | ESCA | 1 |
p.M1151I | SKCM | 1 |
p.F93L | HNSC | 1 |
p.S947L | BLCA | 1 |
p.S1277T | STAD | 1 |
p.S394C | HNSC | 1 |
p.S46P | READ | 1 |
p.L1401V | BLCA | 1 |
p.P496S | SKCM | 1 |
p.R951W | COAD | 1 |
p.E1310Q | CESC | 1 |
p.R1084C | COAD | 1 |
p.M717I | COAD | 1 |
p.L379M | ESCA | 1 |
p.A1097V | PAAD | 1 |
p.R1186K | SKCM | 1 |
p.P643R | KIRP | 1 |
p.S421G | LIHC | 1 |
p.S1264Y | BLCA | 1 |
p.P759S | SKCM | 1 |
p.P1192L | STAD | 1 |
p.Q226H | STAD | 1 |
p.Q940K | ESCA | 1 |
p.A1097T | COAD | 1 |
p.Q168E | BRCA | 1 |
p.R685K | KIRC | 1 |
p.L477F | LUAD | 1 |
p.A40E | LUSC | 1 |
p.V888I | UCEC | 1 |
p.R52P | CESC | 1 |
p.P497L | SKCM | 1 |
p.M731V | ESCA | 1 |
p.F320L | LUAD | 1 |
p.E630D | BLCA | 1 |
p.R435C | BLCA | 1 |
p.P301S | SKCM | 1 |
p.P401S | SKCM | 1 |
p.T1161K | ESCA | 1 |
p.Q993* | UCEC | 1 |
p.A47V | COAD | 1 |
p.S700* | BLCA | 1 |
p.A152T | THYM | 1 |
p.A444V | UCEC | 1 |
p.L875S | LGG | 1 |
p.P643A | KIRP | 1 |
p.Q1128K | OV | 1 |
p.E542* | CESC | 1 |
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TissGeneCNV for FANCA |
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 FANCA |
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 | BF089164 | PAK1-FANCA | chr11:77086787 | chr16:89833594 | |
Chimerdb3.0 | ChiTaRs | NA | BF334909 | FANCA-FANCA | chr16:89877785 | chr16:89877617 | |
Chimerdb3.0 | ChiTaRs | NA | BF744199 | SPG7-FANCA | chr16:89601959 | chr16:89835203 | |
Chimerdb3.0 | FusionScan | ESCA | TCGA-IG-A97H-01A | CHMP1A-FANCA | Out-of-Frame | chr16:89723989 | chr16:89851372 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A8NI-01A | ANKRD11-FANCA | 5'UTR-CDS | chr16:89556652 | chr16:89818630 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A8NI-01A | ANKRD11-FANCA | 5'UTR-CDS | chr16:89556652 | chr16:89825113 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A8NI-01A | ANKRD11-FANCA | 5'UTR-CDS | chr16:89497663 | chr16:89818630 |
TCGAfusionPortal | PRADA | LUAD | TCGA-78-7161-01A | FANCA-CACNA2D4 | 5UTR-CDS | Chr16:89818546 | Chr12:1955855 |
TCGAfusionPortal | PRADA | LUAD | TCGA-97-8176-01A | ANKRD11-FANCA | 5UTR-5UTR | Chr16:89484692 | Chr16:89818630 |
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TissGeneNet for FANCA |
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 FANCA |
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 FANCA |
TissGeneDrug for FANCA |
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 FANCA |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 82 | BeFree,CLINVAR,MGD,UNIPROT |
umls:C0015625 | Fanconi Anemia | 81 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET |
umls:C0006142 | Malignant neoplasm of breast | 10 | BeFree,GAD |
umls:C0268490 | Tyrosinemia, Type I | 9 | BeFree |
umls:C0023467 | Leukemia, Myelocytic, Acute | 5 | BeFree,LHGDN |
umls:C0678222 | Breast Carcinoma | 5 | BeFree |
umls:C0005684 | Malignant neoplasm of urinary bladder | 2 | BeFree,GAD |
umls:C0007137 | Squamous cell carcinoma | 2 | BeFree,LHGDN |
umls:C0268483 | Tyrosinemias | 2 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 2 | BeFree,GAD |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0005695 | Bladder Neoplasm | 1 | CTD_human |
umls:C0007847 | Malignant tumor of cervix | 1 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
umls:C0016689 | Freckles | 1 | GWASCAT |
umls:C0018939 | Hematological Disease | 1 | BeFree |
umls:C0023470 | Myeloid Leukemia | 1 | BeFree |
umls:C0023890 | Liver Cirrhosis | 1 | BeFree |
umls:C0023895 | Liver diseases | 1 | BeFree |
umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
umls:C0025202 | melanoma | 1 | BeFree |
umls:C0025517 | Metabolic Diseases | 1 | BeFree |
umls:C0028259 | Nodule | 1 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
umls:C0030297 | Pancreatic Neoplasm | 1 | LHGDN |
umls:C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
umls:C0042900 | Vitiligo | 1 | GWASCAT |
umls:C0151779 | Cutaneous Melanoma | 1 | BeFree |
umls:C0220615 | Adult Acute Myeloblastic Leukemia | 1 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
umls:C0275814 | Streptococcal lymphadenitis of swine | 1 | BeFree |
umls:C0280100 | Solid tumour | 1 | BeFree |
umls:C0302592 | Cervix carcinoma | 1 | BeFree |
umls:C0596263 | Carcinogenesis | 1 | BeFree |
umls:C0598766 | Leukemogenesis | 1 | BeFree |
umls:C0699885 | Carcinoma of bladder | 1 | BeFree |
umls:C0851140 | Carcinoma in situ of uterine cervix | 1 | GAD |
umls:C0919267 | ovarian neoplasm | 1 | LHGDN |
umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree,GAD |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1623038 | Cirrhosis | 1 | BeFree |
umls:C2919093 | caffeine stimulant related disorder | 1 | GAD |
umls:C3539878 | Triple Negative Breast Neoplasms | 1 | BeFree |