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FAHD1 (fumarylacetoacetate hydrolase domain containing 1)

Identity

Alias (NCBI)C16orf36
YISKL
HGNC (Hugo) FAHD1
HGNC Alias symbDKFZP566J2046
HGNC Alias nameacylpyruvate hydrolase
HGNC Previous nameC16orf36
HGNC Previous namechromosome 16 open reading frame 36
LocusID (NCBI) 81889
Atlas_Id 62976
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 1827224 and ends at 1828907 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    fumarylacetoacetate hydrolase domain containing 1
AliasesC16orf36; YISKL
GeneCards (Weizmann)FAHD1
Ensembl hg19 (Hinxton)ENSG00000180185 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180185 [Gene_View]  ENSG00000180185 [Sequence]  chr16:1827224-1828907 [Contig_View]  FAHD1 [Vega]
ICGC DataPortalENSG00000180185
TCGA cBioPortalFAHD1
AceView (NCBI)FAHD1
Genatlas (Paris)FAHD1
SOURCE (Princeton)FAHD1
Genetics Home Reference (NIH)FAHD1
Genomic and cartography
GoldenPath hg38 (UCSC)FAHD1  -     chr16:1827224-1828907 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FAHD1  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathFAHD1 - 16p13.3 [CytoView hg19]  FAHD1 - 16p13.3 [CytoView hg38]
ImmunoBaseENSG00000180185
Genome Data Viewer NCBIFAHD1 [Mapview hg19]  
OMIM616320   
Gene and transcription
Genbank (Entrez)AF293367 AK094199 AL136720 BC020615 BC063017
RefSeq transcript (Entrez)NM_001018104 NM_001142398 NM_031208
Consensus coding sequences : CCDS (NCBI)FAHD1
Gene ExpressionFAHD1 [ NCBI-GEO ]   FAHD1 [ EBI - ARRAY_EXPRESS ]   FAHD1 [ SEEK ]   FAHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)FAHD1 [ Firebrowse - Broad ]
GenevisibleExpression of FAHD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81889
GTEX Portal (Tissue expression)FAHD1
Human Protein AtlasENSG00000180185-FAHD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ6P587
Domains : Interpro (EBI)Fumarylacetoacetase-like_C    Fumarylacetoacetase_C_sf   
Domain families : Pfam (Sanger)FAA_hydrolase (PF01557)   
Domain families : Pfam (NCBI)pfam01557   
Conserved Domain (NCBI)FAHD1
PDB (RSDB)1SAW    6FOG    6FOH   
PDB Europe1SAW    6FOG    6FOH   
PDB (PDBSum)1SAW    6FOG    6FOH   
PDB (IMB)1SAW    6FOG    6FOH   
Structural Biology KnowledgeBase1SAW    6FOG    6FOH   
SCOP (Structural Classification of Proteins)1SAW    6FOG    6FOH   
CATH (Classification of proteins structures)1SAW    6FOG    6FOH   
SuperfamilyQ6P587
AlphaFold pdb e-kbQ6P587   
Human Protein Atlas [tissue]ENSG00000180185-FAHD1 [tissue]
HPRD13286
Protein Interaction databases
DIP (DOE-UCLA)Q6P587
IntAct (EBI)Q6P587
BioGRIDFAHD1
STRING (EMBL)FAHD1
ZODIACFAHD1
Ontologies - Pathways
QuickGOQ6P587
Ontology : AmiGOnucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  tricarboxylic acid cycle  oxaloacetate decarboxylase activity  acetylpyruvate hydrolase activity  acetylpyruvate hydrolase activity  fumarylpyruvate hydrolase activity  metal ion binding  acylpyruvate hydrolase activity  
Ontology : EGO-EBInucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  tricarboxylic acid cycle  oxaloacetate decarboxylase activity  acetylpyruvate hydrolase activity  acetylpyruvate hydrolase activity  fumarylpyruvate hydrolase activity  metal ion binding  acylpyruvate hydrolase activity  
NDEx NetworkFAHD1
Atlas of Cancer Signalling NetworkFAHD1
Wikipedia pathwaysFAHD1
Orthology - Evolution
OrthoDB81889
GeneTree (enSembl)ENSG00000180185
Phylogenetic Trees/Animal Genes : TreeFamFAHD1
Homologs : HomoloGeneFAHD1
Homology/Alignments : Family Browser (UCSC)FAHD1
Gene fusions - Rearrangements
Fusion : QuiverFAHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFAHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FAHD1
dbVarFAHD1
ClinVarFAHD1
MonarchFAHD1
1000_GenomesFAHD1 
Exome Variant ServerFAHD1
GNOMAD BrowserENSG00000180185
Varsome BrowserFAHD1
ACMGFAHD1 variants
VarityQ6P587
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]  
Somatic Mutations in Cancer : COSMIC3DFAHD1
Mutations and Diseases : HGMDFAHD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFAHD1
DgiDB (Drug Gene Interaction Database)FAHD1
DoCM (Curated mutations)FAHD1
CIViC (Clinical Interpretations of Variants in Cancer)FAHD1
Cancer3DFAHD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616320   
Orphanet
DisGeNETFAHD1
MedgenFAHD1
Genetic Testing Registry FAHD1
NextProtQ6P587 [Medical]
GENETestsFAHD1
Target ValidationFAHD1
Huge Navigator FAHD1 [HugePedia]
ClinGenFAHD1
Clinical trials, drugs, therapy
MyCancerGenomeFAHD1
Protein Interactions : CTDFAHD1
Pharm GKB GenePA25551
PharosQ6P587
Clinical trialFAHD1
Miscellaneous
canSAR (ICR)FAHD1
HarmonizomeFAHD1
DataMed IndexFAHD1
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFAHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:49:24 CEST 2021

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