Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EPHX1 (epoxide hydrolase 1)

Identity

Alias_namesEPHX
epoxide hydrolase 1
Other aliasEPOX
HYL1
MEH
HGNC (Hugo) EPHX1
LocusID (NCBI) 2052
Atlas_Id 40472
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 225825301 and ends at 225845561 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ADCK3 (1q42.13) / EPHX1 (1q42.12)C6orf47 (6p21.33) / EPHX1 (1q42.12)EPHX1 (1q42.12) / JPH3 (16q24.2)
HNRNPH3 (10q21.3) / EPHX1 (1q42.12)PHGDH (1p12) / EPHX1 (1q42.12)RPL11 (1p36.11) / EPHX1 (1q42.12)
SRP9 (1q42.12) / EPHX1 (1q42.12)ADCK3 1q42.13 / EPHX1 1q42.12

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)EPHX1   3401
Cards
Entrez_Gene (NCBI)EPHX1  2052  epoxide hydrolase 1
AliasesEPHX; EPOX; HYL1; MEH
GeneCards (Weizmann)EPHX1
Ensembl hg19 (Hinxton)ENSG00000143819 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143819 [Gene_View]  chr1:225825301-225845561 [Contig_View]  EPHX1 [Vega]
ICGC DataPortalENSG00000143819
TCGA cBioPortalEPHX1
AceView (NCBI)EPHX1
Genatlas (Paris)EPHX1
WikiGenes2052
SOURCE (Princeton)EPHX1
Genetics Home Reference (NIH)EPHX1
Genomic and cartography
GoldenPath hg38 (UCSC)EPHX1  -     chr1:225825301-225845561 +  1q42.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPHX1  -     1q42.12   [Description]    (hg19-Feb_2009)
EnsemblEPHX1 - 1q42.12 [CytoView hg19]  EPHX1 - 1q42.12 [CytoView hg38]
Mapping of homologs : NCBIEPHX1 [Mapview hg19]  EPHX1 [Mapview hg38]
OMIM132810   189800   607748   
Gene and transcription
Genbank (Entrez)AK313436 BC003567 BC008291 BC095430 BJ994650
RefSeq transcript (Entrez)NM_000120 NM_001136018 NM_001291163
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPHX1
Cluster EST : UnigeneHs.89649 [ NCBI ]
CGAP (NCI)Hs.89649
Alternative Splicing GalleryENSG00000143819
Gene ExpressionEPHX1 [ NCBI-GEO ]   EPHX1 [ EBI - ARRAY_EXPRESS ]   EPHX1 [ SEEK ]   EPHX1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPHX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2052
GTEX Portal (Tissue expression)EPHX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07099   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07099  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07099
Splice isoforms : SwissVarP07099
Catalytic activity : Enzyme3.3.2.9 [ Enzyme-Expasy ]   3.3.2.93.3.2.9 [ IntEnz-EBI ]   3.3.2.9 [ BRENDA ]   3.3.2.9 [ KEGG ]   
PhosPhoSitePlusP07099
Domains : Interpro (EBI)AB_hydrolase    Epox_hydrolase-like    Epoxide_hydro_N    Epoxide_hydrolase   
Domain families : Pfam (Sanger)EHN (PF06441)   
Domain families : Pfam (NCBI)pfam06441   
Conserved Domain (NCBI)EPHX1
DMDM Disease mutations2052
Blocks (Seattle)EPHX1
SuperfamilyP07099
Human Protein AtlasENSG00000143819
Peptide AtlasP07099
HPRD00581
IPIIPI00009896   IPI00647694   IPI00640017   
Protein Interaction databases
DIP (DOE-UCLA)P07099
IntAct (EBI)P07099
FunCoupENSG00000143819
BioGRIDEPHX1
STRING (EMBL)EPHX1
ZODIACEPHX1
Ontologies - Pathways
QuickGOP07099
Ontology : AmiGOepoxide hydrolase activity  endoplasmic reticulum membrane  xenobiotic metabolic process  response to toxic substance  response to organic cyclic compound  integral component of membrane  aromatic compound catabolic process  organelle membrane  cis-stilbene-oxide hydrolase activity  
Ontology : EGO-EBIepoxide hydrolase activity  endoplasmic reticulum membrane  xenobiotic metabolic process  response to toxic substance  response to organic cyclic compound  integral component of membrane  aromatic compound catabolic process  organelle membrane  cis-stilbene-oxide hydrolase activity  
Pathways : BIOCARTAEicosanoid Metabolism [Genes]   
Pathways : KEGGMetabolism of xenobiotics by cytochrome P450    Bile secretion    Chemical carcinogenesis   
NDEx NetworkEPHX1
Atlas of Cancer Signalling NetworkEPHX1
Wikipedia pathwaysEPHX1
Orthology - Evolution
OrthoDB2052
GeneTree (enSembl)ENSG00000143819
Phylogenetic Trees/Animal Genes : TreeFamEPHX1
HOVERGENP07099
HOGENOMP07099
Homologs : HomoloGeneEPHX1
Homology/Alignments : Family Browser (UCSC)EPHX1
Gene fusions - Rearrangements
Fusion : MitelmanADCK3/EPHX1 [1q42.13/1q42.12]  [t(1;1)(q42;q42)]  
Fusion: TCGAADCK3 1q42.13 EPHX1 1q42.12 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPHX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPHX1
dbVarEPHX1
ClinVarEPHX1
1000_GenomesEPHX1 
Exome Variant ServerEPHX1
ExAC (Exome Aggregation Consortium)EPHX1 (select the gene name)
Genetic variants : HAPMAP2052
Genomic Variants (DGV)EPHX1 [DGVbeta]
DECIPHEREPHX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPHX1 
Mutations
ICGC Data PortalEPHX1 
TCGA Data PortalEPHX1 
Broad Tumor PortalEPHX1
OASIS PortalEPHX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPHX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPHX1
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 EPHX1
DgiDB (Drug Gene Interaction Database)EPHX1
DoCM (Curated mutations)EPHX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPHX1 (select a term)
intoGenEPHX1
Cancer3DEPHX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM132810    189800    607748   
Orphanet19267   
MedgenEPHX1
Genetic Testing Registry EPHX1
NextProtP07099 [Medical]
TSGene2052
GENETestsEPHX1
Target ValidationEPHX1
Huge Navigator EPHX1 [HugePedia]
snp3D : Map Gene to Disease2052
BioCentury BCIQEPHX1
ClinGenEPHX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2052
Chemical/Pharm GKB GenePA27829
Clinical trialEPHX1
Miscellaneous
canSAR (ICR)EPHX1 (select the gene name)
Probes
Litterature
PubMed352 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPHX1
EVEXEPHX1
GoPubMedEPHX1
iHOPEPHX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:43 CEST 2017
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