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PHYH (phytanoyl-CoA 2-hydroxylase)

Identity

Alias_namesphytanoyl-CoA hydroxylase (Refsum disease)
phytanoyl-CoA hydroxylase
Alias_symbol (synonym)PAHX
RD
PHYH1
Other aliasLN1
LNAP1
HGNC (Hugo) PHYH
LocusID (NCBI) 5264
Atlas_Id 71896
Location 10p13  [Link to chromosome band 10p13]
Location_base_pair Starts at 13277796 and ends at 13299746 bp from pter ( according to hg38-Dec_2013)

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)PHYH   8940
Cards
Entrez_Gene (NCBI)PHYH  5264  phytanoyl-CoA 2-hydroxylase
AliasesLN1; LNAP1; PAHX; PHYH1; 
RD
GeneCards (Weizmann)PHYH
Ensembl hg19 (Hinxton)ENSG00000107537 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107537 [Gene_View]  chr10:13277796-13299746 [Contig_View]  PHYH [Vega]
ICGC DataPortalENSG00000107537
TCGA cBioPortalPHYH
AceView (NCBI)PHYH
Genatlas (Paris)PHYH
WikiGenes5264
SOURCE (Princeton)PHYH
Genetics Home Reference (NIH)PHYH
Genomic and cartography
GoldenPath hg38 (UCSC)PHYH  -     chr10:13277796-13299746 -  10p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHYH  -     10p13   [Description]    (hg19-Feb_2009)
EnsemblPHYH - 10p13 [CytoView hg19]  PHYH - 10p13 [CytoView hg38]
Mapping of homologs : NCBIPHYH [Mapview hg19]  PHYH [Mapview hg38]
OMIM266500   602026   
Gene and transcription
Genbank (Entrez)AF023462 AF112977 BC021011 BC029512 BF185692
RefSeq transcript (Entrez)NM_001037537 NM_001323080 NM_001323082 NM_001323083 NM_001323084 NM_006214
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHYH
Cluster EST : UnigeneHs.498732 [ NCBI ]
CGAP (NCI)Hs.498732
Alternative Splicing GalleryENSG00000107537
Gene ExpressionPHYH [ NCBI-GEO ]   PHYH [ EBI - ARRAY_EXPRESS ]   PHYH [ SEEK ]   PHYH [ MEM ]
Gene Expression Viewer (FireBrowse)PHYH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5264
GTEX Portal (Tissue expression)PHYH
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14832   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14832  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14832
Splice isoforms : SwissVarO14832
Catalytic activity : Enzyme1.14.11.18 [ Enzyme-Expasy ]   1.14.11.181.14.11.18 [ IntEnz-EBI ]   1.14.11.18 [ BRENDA ]   1.14.11.18 [ KEGG ]   
PhosPhoSitePlusO14832
Domains : Interpro (EBI)Phytyl_CoA_dOase   
Domain families : Pfam (Sanger)PhyH (PF05721)   
Domain families : Pfam (NCBI)pfam05721   
Conserved Domain (NCBI)PHYH
DMDM Disease mutations5264
Blocks (Seattle)PHYH
PDB (SRS)2A1X   
PDB (PDBSum)2A1X   
PDB (IMB)2A1X   
PDB (RSDB)2A1X   
Structural Biology KnowledgeBase2A1X   
SCOP (Structural Classification of Proteins)2A1X   
CATH (Classification of proteins structures)2A1X   
SuperfamilyO14832
Human Protein AtlasENSG00000107537
Peptide AtlasO14832
HPRD03609
IPIIPI00219655   IPI00946021   IPI00792412   IPI00872835   IPI00946205   
Protein Interaction databases
DIP (DOE-UCLA)O14832
IntAct (EBI)O14832
FunCoupENSG00000107537
BioGRIDPHYH
STRING (EMBL)PHYH
ZODIACPHYH
Ontologies - Pathways
QuickGOO14832
Ontology : AmiGOfatty acid alpha-oxidation  fatty acid alpha-oxidation  protein binding  mitochondrion  peroxisome  peroxisomal matrix  2-oxoglutarate metabolic process  isoprenoid metabolic process  ferrous iron binding  carboxylic acid binding  L-ascorbic acid binding  cofactor binding  phytanoyl-CoA dioxygenase activity  phytanoyl-CoA dioxygenase activity  methyl-branched fatty acid metabolic process  
Ontology : EGO-EBIfatty acid alpha-oxidation  fatty acid alpha-oxidation  protein binding  mitochondrion  peroxisome  peroxisomal matrix  2-oxoglutarate metabolic process  isoprenoid metabolic process  ferrous iron binding  carboxylic acid binding  L-ascorbic acid binding  cofactor binding  phytanoyl-CoA dioxygenase activity  phytanoyl-CoA dioxygenase activity  methyl-branched fatty acid metabolic process  
Pathways : KEGGPeroxisome   
NDEx NetworkPHYH
Atlas of Cancer Signalling NetworkPHYH
Wikipedia pathwaysPHYH
Orthology - Evolution
OrthoDB5264
GeneTree (enSembl)ENSG00000107537
Phylogenetic Trees/Animal Genes : TreeFamPHYH
HOVERGENO14832
HOGENOMO14832
Homologs : HomoloGenePHYH
Homology/Alignments : Family Browser (UCSC)PHYH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHYH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHYH
dbVarPHYH
ClinVarPHYH
1000_GenomesPHYH 
Exome Variant ServerPHYH
ExAC (Exome Aggregation Consortium)PHYH (select the gene name)
Genetic variants : HAPMAP5264
Genomic Variants (DGV)PHYH [DGVbeta]
DECIPHERPHYH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHYH 
Mutations
ICGC Data PortalPHYH 
TCGA Data PortalPHYH 
Broad Tumor PortalPHYH
OASIS PortalPHYH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHYH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHYH
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PHYH
DgiDB (Drug Gene Interaction Database)PHYH
DoCM (Curated mutations)PHYH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHYH (select a term)
intoGenPHYH
Cancer3DPHYH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM266500    602026   
Orphanet381   
MedgenPHYH
Genetic Testing Registry PHYH
NextProtO14832 [Medical]
TSGene5264
GENETestsPHYH
Target ValidationPHYH
Huge Navigator PHYH [HugePedia]
snp3D : Map Gene to Disease5264
BioCentury BCIQPHYH
ClinGenPHYH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5264
Chemical/Pharm GKB GenePA33280
Clinical trialPHYH
Miscellaneous
canSAR (ICR)PHYH (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHYH
EVEXPHYH
GoPubMedPHYH
iHOPPHYH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:35:51 CEST 2017

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