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FAH (fumarylacetoacetate hydrolase (fumarylacetoacetase))

Identity

Other alias-
HGNC (Hugo) FAH
LocusID (NCBI) 2184
Atlas_Id 62975
Location 15q25.1  [Link to chromosome band 15q25]
Location_base_pair Starts at 80445233 and ends at 80478924 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CRYBB2 (22q11.23) / FAH (15q25.1)MIR548N (2q31.2) / FAH (15q25.1)TPM2 (9p13.3) / FAH (15q25.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)FAH   3579
Cards
Entrez_Gene (NCBI)FAH  2184  fumarylacetoacetate hydrolase (fumarylacetoacetase)
Aliases
GeneCards (Weizmann)FAH
Ensembl hg19 (Hinxton)ENSG00000103876 [Gene_View]  chr15:80445233-80478924 [Contig_View]  FAH [Vega]
Ensembl hg38 (Hinxton)ENSG00000103876 [Gene_View]  chr15:80445233-80478924 [Contig_View]  FAH [Vega]
ICGC DataPortalENSG00000103876
TCGA cBioPortalFAH
AceView (NCBI)FAH
Genatlas (Paris)FAH
WikiGenes2184
SOURCE (Princeton)FAH
Genetics Home Reference (NIH)FAH
Genomic and cartography
GoldenPath hg19 (UCSC)FAH  -     chr15:80445233-80478924 +  15q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FAH  -     15q25.1   [Description]    (hg38-Dec_2013)
EnsemblFAH - 15q25.1 [CytoView hg19]  FAH - 15q25.1 [CytoView hg38]
Mapping of homologs : NCBIFAH [Mapview hg19]  FAH [Mapview hg38]
OMIM276700   613871   
Gene and transcription
Genbank (Entrez)AK297965 AK313951 BC002527 BQ225295 BT007160
RefSeq transcript (Entrez)NM_000137
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_012833 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)FAH
Cluster EST : UnigeneHs.73875 [ NCBI ]
CGAP (NCI)Hs.73875
Alternative Splicing GalleryENSG00000103876
Gene ExpressionFAH [ NCBI-GEO ]   FAH [ EBI - ARRAY_EXPRESS ]   FAH [ SEEK ]   FAH [ MEM ]
Gene Expression Viewer (FireBrowse)FAH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2184
GTEX Portal (Tissue expression)FAH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16930   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16930  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16930
Splice isoforms : SwissVarP16930
PhosPhoSitePlusP16930
Domains : Interpro (EBI)Fumarylacetoacetase    Fumarylacetoacetase_C    Fumarylacetoacetase_C-rel    Fumarylacetoacetase_N   
Domain families : Pfam (Sanger)FAA_hydrolase (PF01557)    FAA_hydrolase_N (PF09298)   
Domain families : Pfam (NCBI)pfam01557    pfam09298   
Conserved Domain (NCBI)FAH
DMDM Disease mutations2184
Blocks (Seattle)FAH
SuperfamilyP16930
Human Protein AtlasENSG00000103876
Peptide AtlasP16930
HPRD02040
IPIIPI00031708   IPI00794773   IPI01013601   
Protein Interaction databases
DIP (DOE-UCLA)P16930
IntAct (EBI)P16930
FunCoupENSG00000103876
BioGRIDFAH
STRING (EMBL)FAH
ZODIACFAH
Ontologies - Pathways
QuickGOP16930
Ontology : AmiGOfumarylacetoacetase activity  protein binding  cytosol  arginine catabolic process  L-phenylalanine catabolic process  L-phenylalanine catabolic process  tyrosine catabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  extracellular exosome  
Ontology : EGO-EBIfumarylacetoacetase activity  protein binding  cytosol  arginine catabolic process  L-phenylalanine catabolic process  L-phenylalanine catabolic process  tyrosine catabolic process  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  extracellular exosome  
Pathways : KEGGTyrosine metabolism   
NDEx NetworkFAH
Atlas of Cancer Signalling NetworkFAH
Wikipedia pathwaysFAH
Orthology - Evolution
OrthoDB2184
GeneTree (enSembl)ENSG00000103876
Phylogenetic Trees/Animal Genes : TreeFamFAH
HOVERGENP16930
HOGENOMP16930
Homologs : HomoloGeneFAH
Homology/Alignments : Family Browser (UCSC)FAH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAH
dbVarFAH
ClinVarFAH
1000_GenomesFAH 
Exome Variant ServerFAH
ExAC (Exome Aggregation Consortium)FAH (select the gene name)
Genetic variants : HAPMAP2184
Genomic Variants (DGV)FAH [DGVbeta]
DECIPHER (Syndromes)15:80445233-80478924  ENSG00000103876
CONAN: Copy Number AnalysisFAH 
Mutations
ICGC Data PortalFAH 
TCGA Data PortalFAH 
Broad Tumor PortalFAH
OASIS PortalFAH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FAH
DgiDB (Drug Gene Interaction Database)FAH
DoCM (Curated mutations)FAH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAH (select a term)
intoGenFAH
Cancer3DFAH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM276700    613871   
Orphanet3494   
MedgenFAH
Genetic Testing Registry FAH
NextProtP16930 [Medical]
TSGene2184
GENETestsFAH
Huge Navigator FAH [HugePedia]
snp3D : Map Gene to Disease2184
BioCentury BCIQFAH
ClinGenFAH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2184
Chemical/Pharm GKB GenePA27977
Clinical trialFAH
Miscellaneous
canSAR (ICR)FAH (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAH
EVEXFAH
GoPubMedFAH
iHOPFAH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:03:21 CET 2017

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