Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)

Identity

Alias_namesECHD
enoyl-Coenzyme A
Other aliasFRTS3
L-PBE
LBFP
LBP
PBFE
HGNC (Hugo) EHHADH
LocusID (NCBI) 1962
Atlas_Id 54278
Location 3q27.2  [Link to chromosome band 3q27]
Location_base_pair Starts at 185190624 and ends at 185254098 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)
EHHADH (3q27.2) / ABCC5 (3q27.1)EHHADH (3q27.2) / SENP5 (3q29)EHHADH 3q27.2 / ABCC5 3q27.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)EHHADH   3247
Cards
Entrez_Gene (NCBI)EHHADH  1962  enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
AliasesECHD; FRTS3; L-PBE; LBFP; 
LBP; PBFE
GeneCards (Weizmann)EHHADH
Ensembl hg19 (Hinxton)ENSG00000113790 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113790 [Gene_View]  chr3:185190624-185254098 [Contig_View]  EHHADH [Vega]
ICGC DataPortalENSG00000113790
TCGA cBioPortalEHHADH
AceView (NCBI)EHHADH
Genatlas (Paris)EHHADH
WikiGenes1962
SOURCE (Princeton)EHHADH
Genetics Home Reference (NIH)EHHADH
Genomic and cartography
GoldenPath hg38 (UCSC)EHHADH  -     chr3:185190624-185254098 -  3q27.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHHADH  -     3q27.2   [Description]    (hg19-Feb_2009)
EnsemblEHHADH - 3q27.2 [CytoView hg19]  EHHADH - 3q27.2 [CytoView hg38]
Mapping of homologs : NCBIEHHADH [Mapview hg19]  EHHADH [Mapview hg38]
OMIM607037   615605   
Gene and transcription
Genbank (Entrez)AK223460 AK291798 AK301521 BC011030 BC030982
RefSeq transcript (Entrez)NM_001166415 NM_001966
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHHADH
Cluster EST : UnigeneHs.429879 [ NCBI ]
CGAP (NCI)Hs.429879
Alternative Splicing GalleryENSG00000113790
Gene ExpressionEHHADH [ NCBI-GEO ]   EHHADH [ EBI - ARRAY_EXPRESS ]   EHHADH [ SEEK ]   EHHADH [ MEM ]
Gene Expression Viewer (FireBrowse)EHHADH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1962
GTEX Portal (Tissue expression)EHHADH
Human Protein AtlasENSG00000113790-EHHADH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08426   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08426  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08426
Splice isoforms : SwissVarQ08426
Catalytic activity : Enzyme4.2.1.17 [ Enzyme-Expasy ]   4.2.1.174.2.1.17 [ IntEnz-EBI ]   4.2.1.17 [ BRENDA ]   4.2.1.17 [ KEGG ]   
PhosPhoSitePlusQ08426
Domaine pattern : Prosite (Expaxy)3HCDH (PS00067)    ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)3-OHacyl-CoA_DH_CS    3-OHacyl-CoA_DH_NAD-bd    3HC_DH_C    6-PGluconate_DH_C-like    6PGD_dom_2    ClpP/crotonase-like_dom    Crotonase_core_superfam    Enoyl-CoA_hyd/isom_CS    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3HCDH (PF00725)    3HCDH_N (PF02737)    ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00725    pfam02737    pfam00378   
Conserved Domain (NCBI)EHHADH
DMDM Disease mutations1962
Blocks (Seattle)EHHADH
SuperfamilyQ08426
Human Protein Atlas [tissue]ENSG00000113790-EHHADH [tissue]
Peptide AtlasQ08426
HPRD06125
IPIIPI00216164   IPI01009477   IPI00927231   IPI00926990   
Protein Interaction databases
DIP (DOE-UCLA)Q08426
IntAct (EBI)Q08426
FunCoupENSG00000113790
BioGRIDEHHADH
STRING (EMBL)EHHADH
ZODIACEHHADH
Ontologies - Pathways
QuickGOQ08426
Ontology : AmiGO3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  dodecenoyl-CoA delta-isomerase activity  enoyl-CoA hydratase activity  receptor binding  protein binding  mitochondrion  peroxisome  peroxisome  peroxisomal matrix  cytosol  internal protein amino acid acetylation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  long-chain-enoyl-CoA hydratase activity  enzyme binding  cellular lipid metabolic process  
Ontology : EGO-EBI3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  3-hydroxyacyl-CoA dehydrogenase activity  dodecenoyl-CoA delta-isomerase activity  enoyl-CoA hydratase activity  receptor binding  protein binding  mitochondrion  peroxisome  peroxisome  peroxisomal matrix  cytosol  internal protein amino acid acetylation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  long-chain-enoyl-CoA hydratase activity  enzyme binding  cellular lipid metabolic process  
Pathways : BIOCARTAMechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]   
Pathways : KEGG   
NDEx NetworkEHHADH
Atlas of Cancer Signalling NetworkEHHADH
Wikipedia pathwaysEHHADH
Orthology - Evolution
OrthoDB1962
GeneTree (enSembl)ENSG00000113790
Phylogenetic Trees/Animal Genes : TreeFamEHHADH
HOVERGENQ08426
HOGENOMQ08426
Homologs : HomoloGeneEHHADH
Homology/Alignments : Family Browser (UCSC)EHHADH
Gene fusions - Rearrangements
Fusion : MitelmanEHHADH/ABCC5 [3q27.2/3q27.1]  
Fusion : MitelmanEHHADH/SENP5 [3q27.2/3q29]  [t(3;3)(q27;q29)]  
Fusion: TCGA_MDACCEHHADH 3q27.2 ABCC5 3q27.1 BRCA
Tumor Fusion PortalEHHADH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHHADH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHHADH
dbVarEHHADH
ClinVarEHHADH
1000_GenomesEHHADH 
Exome Variant ServerEHHADH
ExAC (Exome Aggregation Consortium)ENSG00000113790
GNOMAD BrowserENSG00000113790
Genetic variants : HAPMAP1962
Genomic Variants (DGV)EHHADH [DGVbeta]
DECIPHEREHHADH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHHADH 
Mutations
ICGC Data PortalEHHADH 
TCGA Data PortalEHHADH 
Broad Tumor PortalEHHADH
OASIS PortalEHHADH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHHADH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHHADH
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch EHHADH
DgiDB (Drug Gene Interaction Database)EHHADH
DoCM (Curated mutations)EHHADH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHHADH (select a term)
intoGenEHHADH
Cancer3DEHHADH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607037    615605   
Orphanet3578    3727   
DisGeNETEHHADH
MedgenEHHADH
Genetic Testing Registry EHHADH
NextProtQ08426 [Medical]
TSGene1962
GENETestsEHHADH
Target ValidationEHHADH
Huge Navigator EHHADH [HugePedia]
snp3D : Map Gene to Disease1962
BioCentury BCIQEHHADH
ClinGenEHHADH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1962
Chemical/Pharm GKB GenePA27682
Clinical trialEHHADH
Miscellaneous
canSAR (ICR)EHHADH (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHHADH
EVEXEHHADH
GoPubMedEHHADH
iHOPEHHADH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:11:42 CET 2017

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