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FAHD1 (fumarylacetoacetate hydrolase domain containing 1)

Identity

Alias_namesC16orf36
chromosome 16 open reading frame 36
Alias_symbol (synonym)DKFZP566J2046
Other aliasYISKL
HGNC (Hugo) FAHD1
LocusID (NCBI) 81889
Atlas_Id 62976
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 1827224 and ends at 1840202 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAHD1 (16p13.3) / CENPE (4q24)FAHD1 (16p13.3) / KLHDC4 (16q24.2)NUDT16L1 (16p13.3) / FAHD1 (16p13.3)
TMEM232 (5q22.1) / FAHD1 (16p13.3)

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)FAHD1   14169
Cards
Entrez_Gene (NCBI)FAHD1  81889  fumarylacetoacetate hydrolase domain containing 1
AliasesC16orf36; YISKL
GeneCards (Weizmann)FAHD1
Ensembl hg19 (Hinxton)ENSG00000180185 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180185 [Gene_View]  chr16:1827224-1840202 [Contig_View]  FAHD1 [Vega]
ICGC DataPortalENSG00000180185
TCGA cBioPortalFAHD1
AceView (NCBI)FAHD1
Genatlas (Paris)FAHD1
WikiGenes81889
SOURCE (Princeton)FAHD1
Genetics Home Reference (NIH)FAHD1
Genomic and cartography
GoldenPath hg38 (UCSC)FAHD1  -     chr16:1827224-1840202 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAHD1  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblFAHD1 - 16p13.3 [CytoView hg19]  FAHD1 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIFAHD1 [Mapview hg19]  FAHD1 [Mapview hg38]
OMIM616320   
Gene and transcription
Genbank (Entrez)AF293367 AK094199 AL136720 AM392782 BC020615
RefSeq transcript (Entrez)NM_001018104 NM_001142398 NM_031208
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FAHD1
Cluster EST : UnigeneHs.513265 [ NCBI ]
CGAP (NCI)Hs.513265
Alternative Splicing GalleryENSG00000180185
Gene ExpressionFAHD1 [ NCBI-GEO ]   FAHD1 [ EBI - ARRAY_EXPRESS ]   FAHD1 [ SEEK ]   FAHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)FAHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81889
GTEX Portal (Tissue expression)FAHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P587   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P587  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P587
Splice isoforms : SwissVarQ6P587
PhosPhoSitePlusQ6P587
Domains : Interpro (EBI)Fumarylacetoacetase_C-rel   
Domain families : Pfam (Sanger)FAA_hydrolase (PF01557)   
Domain families : Pfam (NCBI)pfam01557   
Conserved Domain (NCBI)FAHD1
DMDM Disease mutations81889
Blocks (Seattle)FAHD1
PDB (SRS)1SAW   
PDB (PDBSum)1SAW   
PDB (IMB)1SAW   
PDB (RSDB)1SAW   
Structural Biology KnowledgeBase1SAW   
SCOP (Structurál Cl!sskfication of Proteins)1SAW   
CATH (Classification of proteins structures)1SAW   
SuperfamilyQ6P587
Human Protein AtlasENSG00000180185
Peptide AtlasQ6P587
HPRD13286
IPIIPI00552360   IPI00440828   IPI00387021   IPI00604759   
Protein Interaction databases
DIP (DOE-UCLA)Q6P587
IntAct (EBI)Q6P587
FunCoupENSG00000180185
BioGRIDFAHD1
STRING (EMBL)FAHD1
ZODIACFAHD1
Ontologies - Pathways
QuickGOQ6P587
Ontology : AmiGOnucleoplasm  mitochondrion  mitochondrial inner membrane  cytosol  metabolic process  oxaloacetate decarboxylase activity  acetylpyruvate hydrolase activity  fumarylpyruvate hydrolase activity  metal ion binding  acylpyruvate hydrolase activity  
Ontology : EGO-EBInucleoplasm  mitochondrion  mitochondrial inner membrane  cytosol  metabolic process  oxaloacetate decarboxylase activity  acetylpyruvate hydrolase activity  fumarylpyruvate hydrolase activity  metal ion binding  acylpyruvate hydrolase activity  
Pathways : KEGGTyrosine metabolism   
NDEx NetworkFAHD1
Atlas of Cancer Signalling NetworkFAHD1
Wikipedia pathwaysFAHD1
Orthology - Evolution
OrthoDB81889
GeneTree (enSembl)ENSG00000180185
Phylogenetic Trees/Animal Genes : TreeFamFAHD1
HOVERGENQ6P587
HOGENOMQ6P587
Homologs : HomoloGeneFAHD1
Homology/Alignments : Family Browser (UCSC)FAHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAHD1
dbVarFAHD1
ClinVarFAHD1
1000_GenomesFAHD1 
Exome Variant ServerFAHD1
ExAC (Exome Aggregation Consortium)FAHD1 (select the gene name)
Genetic variants : HAPMAP81889
Genomic Variants (DGV)FAHD1 [DGVbeta]
DECIPHERFAHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFAHD1 
Mutations
ICGC Data PortalFAHD1 
TCGA Data PortalFAHD1 
Broad Tumor PortalFAHD1
OASIS PortalFAHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFAHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFAHD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch FAHD1
DgiDB (Drug Gene Interaction Database)FAHD1
DoCM (Curated mutations)FAHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FAHD1 (select a term)
intoGenFAHD1
Cancer3DFAHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616320   
Orphanet
MedgenFAHD1
Genetic Testing Registry FAHD1
NextProtQ6P587 [Medical]
TSGene81889
GENETestsFAHD1
Target ValidationFAHD1
Huge Navigator FAHD1 [HugePedia]
snp3D : Map Gene to Disease81889
BioCentury BCIQFAHD1
ClinGenFAHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81889
Chemical/Pharm GKB GenePA25551
Clinical trialFAHD1
Miscellaneous
canSAR (ICR)FAHD1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFAHD1
EVEXFAHD1
GoPubMedFAHD1
iHOPFAHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:07:29 CEST 2017

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