Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ECI2 (enoyl-CoA delta isomerase 2)

Identity

Other aliasACBD2
DRS-1
DRS1
HCA88
PECI
dJ1013A10.3
HGNC (Hugo) ECI2
LocusID (NCBI) 10455
Atlas_Id 57588
Location 6p25.2  [Link to chromosome band 6p25]
Location_base_pair Starts at 4115693 and ends at 4135597 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)
SPTBN1 (2p16.2) / ECI2 (6p25.2)

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 ]
  t(2;6)(p16;p25) SPTBN1/ECI2


External links

Nomenclature
HGNC (Hugo)ECI2   14601
Cards
Entrez_Gene (NCBI)ECI2  10455  enoyl-CoA delta isomerase 2
AliasesACBD2; DRS-1; DRS1; HCA88; 
PECI; dJ1013A10.3
GeneCards (Weizmann)ECI2
Ensembl hg19 (Hinxton)ENSG00000198721 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198721 [Gene_View]  ENSG00000198721 [Sequence]  chr6:4115693-4135597 [Contig_View]  ECI2 [Vega]
ICGC DataPortalENSG00000198721
TCGA cBioPortalECI2
AceView (NCBI)ECI2
Genatlas (Paris)ECI2
WikiGenes10455
SOURCE (Princeton)ECI2
Genetics Home Reference (NIH)ECI2
Genomic and cartography
GoldenPath hg38 (UCSC)ECI2  -     chr6:4115693-4135597 -  6p25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECI2  -     6p25.2   [Description]    (hg19-Feb_2009)
EnsemblECI2 - 6p25.2 [CytoView hg19]  ECI2 - 6p25.2 [CytoView hg38]
Mapping of homologs : NCBIECI2 [Mapview hg19]  ECI2 [Mapview hg38]
OMIM608024   
Gene and transcription
Genbank (Entrez)AB209917 AF069301 AF153612 AF244138 AF257175
RefSeq transcript (Entrez)NM_001166010 NM_006117 NM_206836
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECI2
Cluster EST : UnigeneHs.15250 [ NCBI ]
CGAP (NCI)Hs.15250
Alternative Splicing GalleryENSG00000198721
Gene ExpressionECI2 [ NCBI-GEO ]   ECI2 [ EBI - ARRAY_EXPRESS ]   ECI2 [ SEEK ]   ECI2 [ MEM ]
Gene Expression Viewer (FireBrowse)ECI2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10455
GTEX Portal (Tissue expression)ECI2
Human Protein AtlasENSG00000198721-ECI2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75521   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75521  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75521
Splice isoforms : SwissVarO75521
Catalytic activity : Enzyme5.3.3.8 [ Enzyme-Expasy ]   5.3.3.85.3.3.8 [ IntEnz-EBI ]   5.3.3.8 [ BRENDA ]   5.3.3.8 [ KEGG ]   
PhosPhoSitePlusO75521
Domaine pattern : Prosite (Expaxy)ACB_1 (PS00880)    ACB_2 (PS51228)   
Domains : Interpro (EBI)Acyl-CoA-binding_prot_CS    Acyl-CoA-binding_protein    Acyl-CoA-binding_sf    ClpP/crotonase-like_dom_sf    Enoyl-CoA_hydra/iso    enoyl-CoA_hydra_C    FERM/acyl-CoA-bd_prot_sf   
Domain families : Pfam (Sanger)ACBP (PF00887)    ECH_1 (PF00378)   
Domain families : Pfam (NCBI)pfam00887    pfam00378   
Conserved Domain (NCBI)ECI2
DMDM Disease mutations10455
Blocks (Seattle)ECI2
PDB (SRS)2CQU    2F6Q    4U18    4U19    4U1A   
PDB (PDBSum)2CQU    2F6Q    4U18    4U19    4U1A   
PDB (IMB)2CQU    2F6Q    4U18    4U19    4U1A   
PDB (RSDB)2CQU    2F6Q    4U18    4U19    4U1A   
Structural Biology KnowledgeBase2CQU    2F6Q    4U18    4U19    4U1A   
SCOP (Structural Classification of Proteins)2CQU    2F6Q    4U18    4U19    4U1A   
CATH (Classification of proteins structures)2CQU    2F6Q    4U18    4U19    4U1A   
SuperfamilyO75521
Human Protein Atlas [tissue]ENSG00000198721-ECI2 [tissue]
Peptide AtlasO75521
IPIIPI00639841   IPI01012390   IPI00419263   IPI00472856   IPI00974369   IPI01014923   IPI00946181   
Protein Interaction databases
DIP (DOE-UCLA)O75521
IntAct (EBI)O75521
FunCoupENSG00000198721
BioGRIDECI2
STRING (EMBL)ECI2
ZODIACECI2
Ontologies - Pathways
QuickGOO75521
Ontology : AmiGOfatty-acyl-CoA binding  dodecenoyl-CoA delta-isomerase activity  signaling receptor binding  nucleoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  protein targeting to peroxisome  membrane  fatty acid beta-oxidation using acyl-CoA oxidase  intracellular membrane-bounded organelle  
Ontology : EGO-EBIfatty-acyl-CoA binding  dodecenoyl-CoA delta-isomerase activity  signaling receptor binding  nucleoplasm  mitochondrion  peroxisome  peroxisomal matrix  cytosol  protein targeting to peroxisome  membrane  fatty acid beta-oxidation using acyl-CoA oxidase  intracellular membrane-bounded organelle  
Pathways : KEGGFatty acid degradation    Peroxisome   
NDEx NetworkECI2
Atlas of Cancer Signalling NetworkECI2
Wikipedia pathwaysECI2
Orthology - Evolution
OrthoDB10455
GeneTree (enSembl)ENSG00000198721
Phylogenetic Trees/Animal Genes : TreeFamECI2
HOVERGENO75521
HOGENOMO75521
Homologs : HomoloGeneECI2
Homology/Alignments : Family Browser (UCSC)ECI2
Gene fusions - Rearrangements
Fusion : QuiverECI2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECI2
dbVarECI2
ClinVarECI2
1000_GenomesECI2 
Exome Variant ServerECI2
ExAC (Exome Aggregation Consortium)ENSG00000198721
GNOMAD BrowserENSG00000198721
Varsome BrowserECI2
Genetic variants : HAPMAP10455
Genomic Variants (DGV)ECI2 [DGVbeta]
DECIPHERECI2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECI2 
Mutations
ICGC Data PortalECI2 
TCGA Data PortalECI2 
Broad Tumor PortalECI2
OASIS PortalECI2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECI2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECI2
BioMutasearch ECI2
DgiDB (Drug Gene Interaction Database)ECI2
DoCM (Curated mutations)ECI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECI2 (select a term)
intoGenECI2
Cancer3DECI2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608024   
Orphanet
DisGeNETECI2
MedgenECI2
Genetic Testing Registry ECI2
NextProtO75521 [Medical]
TSGene10455
GENETestsECI2
Target ValidationECI2
Huge Navigator ECI2 [HugePedia]
snp3D : Map Gene to Disease10455
BioCentury BCIQECI2
ClinGenECI2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10455
Chemical/Pharm GKB GenePA33168
Clinical trialECI2
Miscellaneous
canSAR (ICR)ECI2 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECI2
EVEXECI2
GoPubMedECI2
iHOPECI2
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 6 11:03:48 CET 2018

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