Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ECHS1 (enoyl-CoA hydratase, short chain 1)

Identity

Alias_namesenoyl Coenzyme A hydratase, short chain, 1, mitochondrial
enoyl-CoA hydratase, short chain, 1, mitochondrial
Alias_symbol (synonym)SCEH
Other aliasECHS1D
HGNC (Hugo) ECHS1
LocusID (NCBI) 1892
Atlas_Id 53815
Location 6q22.33  [Link to chromosome band 6q22]
Location_base_pair Starts at 133362483 and ends at 133373404 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)
ECHS1 (10q26.3) / ECHS1 (10q26.3)ENOX1 (13q14.11) / ECHS1 (10q26.3)JUP (17q21.2) / ECHS1 (10q26.3)

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)ECHS1   3151
Cards
Entrez_Gene (NCBI)ECHS1  1892  enoyl-CoA hydratase, short chain 1
AliasesECHS1D; SCEH
GeneCards (Weizmann)ECHS1
Ensembl hg19 (Hinxton)ENSG00000127884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127884 [Gene_View]  ENSG00000127884 [Sequence]  chr10:133362483-133373404 [Contig_View]  ECHS1 [Vega]
ICGC DataPortalENSG00000127884
TCGA cBioPortalECHS1
AceView (NCBI)ECHS1
Genatlas (Paris)ECHS1
WikiGenes1892
SOURCE (Princeton)ECHS1
Genetics Home Reference (NIH)ECHS1
Genomic and cartography
GoldenPath hg38 (UCSC)ECHS1  -     chr10:133362483-133373404 -  6q22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECHS1  -     6q22.33   [Description]    (hg19-Feb_2009)
EnsemblECHS1 - 6q22.33 [CytoView hg19]  ECHS1 - 6q22.33 [CytoView hg38]
Mapping of homologs : NCBIECHS1 [Mapview hg19]  ECHS1 [Mapview hg38]
OMIM602292   616277   
Gene and transcription
Genbank (Entrez)BC008906 BC013264 BE906357 BI091611 BQ130816
RefSeq transcript (Entrez)NM_004092
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECHS1
Cluster EST : UnigeneHs.76394 [ NCBI ]
CGAP (NCI)Hs.76394
Alternative Splicing GalleryENSG00000127884
Gene ExpressionECHS1 [ NCBI-GEO ]   ECHS1 [ EBI - ARRAY_EXPRESS ]   ECHS1 [ SEEK ]   ECHS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECHS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1892
GTEX Portal (Tissue expression)ECHS1
Human Protein AtlasENSG00000127884-ECHS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30084   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30084  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30084
Splice isoforms : SwissVarP30084
PhosPhoSitePlusP30084
Domaine pattern : Prosite (Expaxy)ENOYL_COA_HYDRATASE (PS00166)   
Domains : Interpro (EBI)ClpP/crotonase-like_dom_sf    Enoyl-CoA_hyd/isom_CS    Enoyl-CoA_hydra/iso    enoyl-CoA_hydra_C   
Domain families : Pfam (Sanger)ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00378   
Conserved Domain (NCBI)ECHS1
DMDM Disease mutations1892
Blocks (Seattle)ECHS1
PDB (SRS)2HW5   
PDB (PDBSum)2HW5   
PDB (IMB)2HW5   
PDB (RSDB)2HW5   
Structural Biology KnowledgeBase2HW5   
SCOP (Structural Classification of Proteins)2HW5   
CATH (Classification of proteins structures)2HW5   
SuperfamilyP30084
Human Protein Atlas [tissue]ENSG00000127884-ECHS1 [tissue]
Peptide AtlasP30084
HPRD03799
IPIIPI00024993   
Protein Interaction databases
DIP (DOE-UCLA)P30084
IntAct (EBI)P30084
FunCoupENSG00000127884
BioGRIDECHS1
STRING (EMBL)ECHS1
ZODIACECHS1
Ontologies - Pathways
QuickGOP30084
Ontology : AmiGOenoyl-CoA hydratase activity  enoyl-CoA hydratase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  
Ontology : EGO-EBIenoyl-CoA hydratase activity  enoyl-CoA hydratase activity  enoyl-CoA hydratase activity  protein binding  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  fatty acid beta-oxidation  
Pathways : KEGG   
NDEx NetworkECHS1
Atlas of Cancer Signalling NetworkECHS1
Wikipedia pathwaysECHS1
Orthology - Evolution
OrthoDB1892
GeneTree (enSembl)ENSG00000127884
Phylogenetic Trees/Animal Genes : TreeFamECHS1
HOVERGENP30084
HOGENOMP30084
Homologs : HomoloGeneECHS1
Homology/Alignments : Family Browser (UCSC)ECHS1
Gene fusions - Rearrangements
Fusion : QuiverECHS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECHS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECHS1
dbVarECHS1
ClinVarECHS1
1000_GenomesECHS1 
Exome Variant ServerECHS1
ExAC (Exome Aggregation Consortium)ENSG00000127884
GNOMAD BrowserENSG00000127884
Varsome BrowserECHS1
Genetic variants : HAPMAP1892
Genomic Variants (DGV)ECHS1 [DGVbeta]
DECIPHERECHS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECHS1 
Mutations
ICGC Data PortalECHS1 
TCGA Data PortalECHS1 
Broad Tumor PortalECHS1
OASIS PortalECHS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECHS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECHS1
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 ECHS1
DgiDB (Drug Gene Interaction Database)ECHS1
DoCM (Curated mutations)ECHS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECHS1 (select a term)
intoGenECHS1
Cancer3DECHS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602292    616277   
Orphanet19814   
DisGeNETECHS1
MedgenECHS1
Genetic Testing Registry ECHS1
NextProtP30084 [Medical]
TSGene1892
GENETestsECHS1
Target ValidationECHS1
Huge Navigator ECHS1 [HugePedia]
snp3D : Map Gene to Disease1892
BioCentury BCIQECHS1
ClinGenECHS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1892
Chemical/Pharm GKB GenePA27597
Clinical trialECHS1
Miscellaneous
canSAR (ICR)ECHS1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECHS1
EVEXECHS1
GoPubMedECHS1
iHOPECHS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 10:59:29 CEST 2018
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