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ECHDC1 (ethylmalonyl-CoA decarboxylase 1)

Identity

Alias_namesenoyl Coenzyme A hydratase domain containing 1
enoyl CoA hydratase domain containing 1
Alias_symbol (synonym)dJ351K20.2
Other aliasHEL-S-76
MMCD
HGNC (Hugo) ECHDC1
LocusID (NCBI) 55862
Atlas_Id 51265
Location 6q22.33  [Link to chromosome band 6q22]
Location_base_pair Starts at 127288712 and ends at 127343609 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)
AMD1 (6q21) / ECHDC1 (6q22.33)ECHDC1 (6q22.33) / ECHDC1 (6q22.33)ECHDC1 (6q22.33) / FYN (6q21)
MAP7 (6q23.3) / ECHDC1 (6q22.33)PCOLCE (7q22.1) / ECHDC1 (6q22.33)SESN1 (6q21) / ECHDC1 (6q22.33)
SLC22A23 (6p25.2) / ECHDC1 (6q22.33)ECHDC1 6q22.33 / FYN 6q21MAP7 6q23.3 / ECHDC1 6q22.33
SESN1 6q21 / ECHDC1 6q22.33SLC22A23 6p25.2 / ECHDC1 6q22.33

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) [ 4 ]
  t(6;6)(p25;q22) SLC22A23/ECHDC1
t(6;6)(q21;q22) ECHDC1/FYN
t(6;6)(q21;q22) SESN1/ECHDC1
t(6;6)(q22;q23) MAP7/ECHDC1


External links

Nomenclature
HGNC (Hugo)ECHDC1   21489
Cards
Entrez_Gene (NCBI)ECHDC1  55862  ethylmalonyl-CoA decarboxylase 1
AliasesHEL-S-76; MMCD; dJ351K20.2
GeneCards (Weizmann)ECHDC1
Ensembl hg19 (Hinxton)ENSG00000093144 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000093144 [Gene_View]  ENSG00000093144 [Sequence]  chr6:127288712-127343609 [Contig_View]  ECHDC1 [Vega]
ICGC DataPortalENSG00000093144
TCGA cBioPortalECHDC1
AceView (NCBI)ECHDC1
Genatlas (Paris)ECHDC1
WikiGenes55862
SOURCE (Princeton)ECHDC1
Genetics Home Reference (NIH)ECHDC1
Genomic and cartography
GoldenPath hg38 (UCSC)ECHDC1  -     chr6:127288712-127343609 -  6q22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECHDC1  -     6q22.33   [Description]    (hg19-Feb_2009)
EnsemblECHDC1 - 6q22.33 [CytoView hg19]  ECHDC1 - 6q22.33 [CytoView hg38]
Mapping of homologs : NCBIECHDC1 [Mapview hg19]  ECHDC1 [Mapview hg38]
OMIM612136   
Gene and transcription
Genbank (Entrez)AF220192 AK021464 AK025760 AK025796 AK098146
RefSeq transcript (Entrez)NM_001002030 NM_001105544 NM_001105545 NM_001139510 NM_018479
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECHDC1
Cluster EST : UnigeneHs.486410 [ NCBI ]
CGAP (NCI)Hs.486410
Alternative Splicing GalleryENSG00000093144
Gene ExpressionECHDC1 [ NCBI-GEO ]   ECHDC1 [ EBI - ARRAY_EXPRESS ]   ECHDC1 [ SEEK ]   ECHDC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECHDC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55862
GTEX Portal (Tissue expression)ECHDC1
Human Protein AtlasENSG00000093144-ECHDC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NTX5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NTX5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NTX5
Splice isoforms : SwissVarQ9NTX5
Catalytic activity : Enzyme4.1.1.94 [ Enzyme-Expasy ]   4.1.1.944.1.1.94 [ IntEnz-EBI ]   4.1.1.94 [ BRENDA ]   4.1.1.94 [ KEGG ]   
PhosPhoSitePlusQ9NTX5
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   
Domain families : Pfam (Sanger)ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00378   
Conserved Domain (NCBI)ECHDC1
DMDM Disease mutations55862
Blocks (Seattle)ECHDC1
SuperfamilyQ9NTX5
Human Protein Atlas [tissue]ENSG00000093144-ECHDC1 [tissue]
Peptide AtlasQ9NTX5
HPRD13260
IPIIPI00302688   IPI00550928   IPI00973756   IPI00479537   IPI00984639   IPI00872902   IPI00645630   IPI00644982   IPI00646014   IPI00869269   IPI00973985   IPI00976114   IPI00979359   IPI00976921   IPI00642080   IPI00978566   IPI00979264   
Protein Interaction databases
DIP (DOE-UCLA)Q9NTX5
IntAct (EBI)Q9NTX5
FunCoupENSG00000093144
BioGRIDECHDC1
STRING (EMBL)ECHDC1
ZODIACECHDC1
Ontologies - Pathways
QuickGOQ9NTX5
Ontology : AmiGOenoyl-CoA hydratase activity  methylmalonyl-CoA decarboxylase activity  mitochondrion  cytosol  cytosol  fatty acid beta-oxidation  carboxy-lyase activity  
Ontology : EGO-EBIenoyl-CoA hydratase activity  methylmalonyl-CoA decarboxylase activity  mitochondrion  cytosol  cytosol  fatty acid beta-oxidation  carboxy-lyase activity  
NDEx NetworkECHDC1
Atlas of Cancer Signalling NetworkECHDC1
Wikipedia pathwaysECHDC1
Orthology - Evolution
OrthoDB55862
GeneTree (enSembl)ENSG00000093144
Phylogenetic Trees/Animal Genes : TreeFamECHDC1
HOVERGENQ9NTX5
HOGENOMQ9NTX5
Homologs : HomoloGeneECHDC1
Homology/Alignments : Family Browser (UCSC)ECHDC1
Gene fusions - Rearrangements
Fusion : MitelmanECHDC1/FYN [6q22.33/6q21]  
Fusion : MitelmanMAP7/ECHDC1 [6q23.3/6q22.33]  [t(6;6)(q22;q23)]  
Fusion : MitelmanSESN1/ECHDC1 [6q21/6q22.33]  [t(6;6)(q21;q22)]  
Fusion : MitelmanSLC22A23/ECHDC1 [6p25.2/6q22.33]  [t(6;6)(p25;q22)]  
Fusion PortalECHDC1 6q22.33 FYN 6q21 LUAD
Fusion PortalMAP7 6q23.3 ECHDC1 6q22.33 BRCA
Fusion PortalSESN1 6q21 ECHDC1 6q22.33 LUAD
Fusion PortalSLC22A23 6p25.2 ECHDC1 6q22.33 BLCA
Fusion : QuiverECHDC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECHDC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECHDC1
dbVarECHDC1
ClinVarECHDC1
1000_GenomesECHDC1 
Exome Variant ServerECHDC1
ExAC (Exome Aggregation Consortium)ENSG00000093144
GNOMAD BrowserENSG00000093144
Varsome BrowserECHDC1
Genetic variants : HAPMAP55862
Genomic Variants (DGV)ECHDC1 [DGVbeta]
DECIPHERECHDC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECHDC1 
Mutations
ICGC Data PortalECHDC1 
TCGA Data PortalECHDC1 
Broad Tumor PortalECHDC1
OASIS PortalECHDC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECHDC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECHDC1
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 ECHDC1
DgiDB (Drug Gene Interaction Database)ECHDC1
DoCM (Curated mutations)ECHDC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECHDC1 (select a term)
intoGenECHDC1
Cancer3DECHDC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612136   
Orphanet
DisGeNETECHDC1
MedgenECHDC1
Genetic Testing Registry ECHDC1
NextProtQ9NTX5 [Medical]
TSGene55862
GENETestsECHDC1
Target ValidationECHDC1
Huge Navigator ECHDC1 [HugePedia]
snp3D : Map Gene to Disease55862
BioCentury BCIQECHDC1
ClinGenECHDC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55862
Chemical/Pharm GKB GenePA134871524
Clinical trialECHDC1
Miscellaneous
canSAR (ICR)ECHDC1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECHDC1
EVEXECHDC1
GoPubMedECHDC1
iHOPECHDC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:20:29 CEST 2018

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