Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ECE1 (endothelin converting enzyme 1)

Identity

Alias_namesECE
Other alias
HGNC (Hugo) ECE1
LocusID (NCBI) 1889
Atlas_Id 40395
Location 1p36.12  [Link to chromosome band 1p36]
Location_base_pair Starts at 21217247 and ends at 21290489 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)
AD_1 () / ECE1 (1p36.12)ARHGEF4 (2q21.1) / ECE1 (1p36.12)CFLAR (2q33.1) / ECE1 (1p36.12)
ECE1 (1p36.12) / ALDOA (16p11.2)ECE1 (1p36.12) / CES2 (16q22.1)ECE1 (1p36.12) / ECE1 (1p36.12)
ECE1 (1p36.12) / FAM183A (1p34.2)ECE1 (1p36.12) / PLA2G5 (1p36.13)ECE1 (1p36.12) / PTPN23 (3p21.31)
EIF4G3 (1p36.12) / ECE1 (1p36.12)SELO (22q13.33) / ECE1 (1p36.12)ZNF672 (1q44) / ECE1 (1p36.12)
ECE1 1p36.12 / FAM183A 1p34.2ECE1 1p36.12 / PLA2G5 1p36.13EIF4G3 1p36.12 / ECE1 1p36.12

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;1)(p34;p36) ECE1/FAM183A
ECE1/PLA2G5 (1p36)
EIF4G3/ECE1 (1p36)

External links

Nomenclature
HGNC (Hugo)ECE1   3146
Cards
Entrez_Gene (NCBI)ECE1  1889  endothelin converting enzyme 1
AliasesECE
GeneCards (Weizmann)ECE1
Ensembl hg19 (Hinxton)ENSG00000117298 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117298 [Gene_View]  ENSG00000117298 [Sequence]  chr1:21217247-21290489 [Contig_View]  ECE1 [Vega]
ICGC DataPortalENSG00000117298
TCGA cBioPortalECE1
AceView (NCBI)ECE1
Genatlas (Paris)ECE1
WikiGenes1889
SOURCE (Princeton)ECE1
Genetics Home Reference (NIH)ECE1
Genomic and cartography
GoldenPath hg38 (UCSC)ECE1  -     chr1:21217247-21290489 -  1p36.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECE1  -     1p36.12   [Description]    (hg19-Feb_2009)
GoldenPathECE1 - 1p36.12 [CytoView hg19]  ECE1 - 1p36.12 [CytoView hg38]
ImmunoBaseENSG00000117298
Mapping of homologs : NCBIECE1 [Mapview hg19]  ECE1 [Mapview hg38]
OMIM145500   600423   613870   
Gene and transcription
Genbank (Entrez)AB031742 AJ130828 AK123231 AK290656 AK296486
RefSeq transcript (Entrez)NM_001113347 NM_001113348 NM_001113349 NM_001397
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECE1
Cluster EST : UnigeneHs.195080 [ NCBI ]
CGAP (NCI)Hs.195080
Alternative Splicing GalleryENSG00000117298
Gene ExpressionECE1 [ NCBI-GEO ]   ECE1 [ EBI - ARRAY_EXPRESS ]   ECE1 [ SEEK ]   ECE1 [ MEM ]
Gene Expression Viewer (FireBrowse)ECE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1889
GTEX Portal (Tissue expression)ECE1
Human Protein AtlasENSG00000117298-ECE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42892   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP42892  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42892
Splice isoforms : SwissVarP42892
PhosPhoSitePlusP42892
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ECE1/ECE2    MetalloPept_cat_dom_sf    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)ECE1
DMDM Disease mutations1889
Blocks (Seattle)ECE1
PDB (RSDB)3DWB   
PDB Europe3DWB   
PDB (PDBSum)3DWB   
PDB (IMB)3DWB   
Structural Biology KnowledgeBase3DWB   
SCOP (Structural Classification of Proteins)3DWB   
CATH (Classification of proteins structures)3DWB   
SuperfamilyP42892
Human Protein Atlas [tissue]ENSG00000117298-ECE1 [tissue]
Peptide AtlasP42892
HPRD02690
IPIIPI00002478   IPI00216758   IPI00216760   IPI00216762   IPI00514800   IPI00984937   IPI00976192   IPI00976916   
Protein Interaction databases
DIP (DOE-UCLA)P42892
IntAct (EBI)P42892
FunCoupENSG00000117298
BioGRIDECE1
STRING (EMBL)ECE1
ZODIACECE1
Ontologies - Pathways
QuickGOP42892
Ontology : AmiGOpositive regulation of receptor recycling  regulation of systemic arterial blood pressure by endothelin  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  lysosomal membrane  endosome  plasma membrane  heart development  zinc ion binding  external side of plasma membrane  substance P catabolic process  bradykinin catabolic process  calcitonin catabolic process  membrane  integral component of membrane  protein processing  peptide hormone processing  peptide hormone binding  regulation of vasoconstriction  intrinsic component of endosome membrane  vesicle  Weibel-Palade body  endothelin maturation  hormone catabolic process  embryonic digit morphogenesis  protein homodimerization activity  ear development  perinuclear region of cytoplasm  pharyngeal system development  extracellular exosome  
Ontology : EGO-EBIpositive regulation of receptor recycling  regulation of systemic arterial blood pressure by endothelin  endopeptidase activity  metalloendopeptidase activity  metalloendopeptidase activity  protein binding  lysosomal membrane  endosome  plasma membrane  heart development  zinc ion binding  external side of plasma membrane  substance P catabolic process  bradykinin catabolic process  calcitonin catabolic process  membrane  integral component of membrane  protein processing  peptide hormone processing  peptide hormone binding  regulation of vasoconstriction  intrinsic component of endosome membrane  vesicle  Weibel-Palade body  endothelin maturation  hormone catabolic process  embryonic digit morphogenesis  protein homodimerization activity  ear development  perinuclear region of cytoplasm  pharyngeal system development  extracellular exosome  
NDEx NetworkECE1
Atlas of Cancer Signalling NetworkECE1
Wikipedia pathwaysECE1
Orthology - Evolution
OrthoDB1889
GeneTree (enSembl)ENSG00000117298
Phylogenetic Trees/Animal Genes : TreeFamECE1
HOGENOMP42892
Homologs : HomoloGeneECE1
Homology/Alignments : Family Browser (UCSC)ECE1
Gene fusions - Rearrangements
Fusion : MitelmanECE1/FAM183A [1p36.12/1p34.2]  
Fusion : MitelmanECE1/PLA2G5 [1p36.12/1p36.13]  [t(1;1)(p36;p36)]  
Fusion : MitelmanEIF4G3/ECE1 [1p36.12/1p36.12]  [t(1;1)(p36;p36)]  
Fusion PortalECE1 1p36.12 FAM183A 1p34.2 SKCM
Fusion PortalECE1 1p36.12 PLA2G5 1p36.13 SKCM
Fusion PortalEIF4G3 1p36.12 ECE1 1p36.12 LGG LUAD
Fusion Cancer (Beijing)AD_1 [ECE1]  -  1p36.12 [FUSC002805]
Fusion : QuiverECE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECE1
dbVarECE1
ClinVarECE1
1000_GenomesECE1 
Exome Variant ServerECE1
ExAC (Exome Aggregation Consortium)ENSG00000117298
GNOMAD BrowserENSG00000117298
Varsome BrowserECE1
Genetic variants : HAPMAP1889
Genomic Variants (DGV)ECE1 [DGVbeta]
DECIPHERECE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECE1 
Mutations
ICGC Data PortalECE1 
TCGA Data PortalECE1 
Broad Tumor PortalECE1
OASIS PortalECE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DECE1
Mutations and Diseases : HGMDECE1
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 ECE1
DgiDB (Drug Gene Interaction Database)ECE1
DoCM (Curated mutations)ECE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECE1 (select a term)
intoGenECE1
Cancer3DECE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM145500    600423    613870   
Orphanet647   
DisGeNETECE1
MedgenECE1
Genetic Testing Registry ECE1
NextProtP42892 [Medical]
TSGene1889
GENETestsECE1
Target ValidationECE1
Huge Navigator ECE1 [HugePedia]
snp3D : Map Gene to Disease1889
BioCentury BCIQECE1
ClinGenECE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1889
Chemical/Pharm GKB GenePA27594
Clinical trialECE1
Miscellaneous
canSAR (ICR)ECE1 (select the gene name)
DataMed IndexECE1
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECE1
EVEXECE1
GoPubMedECE1
iHOPECE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:41:23 CET 2019
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