Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CPE (carboxypeptidase E)

Identity

Alias (NCBI)CPH
HGNC (Hugo) CPE
HGNC Alias namecarboxypeptidase H
 enkephalin convertase
 insulin granule-associated carboxypeptidase
 cobalt-stimulated chromaffin granule carboxypeptidase
LocusID (NCBI) 1363
Atlas_Id 43589
Location 4q32.3  [Link to chromosome band 4q32]
Location_base_pair Starts at 165379008 and ends at 165498547 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)
CPE (4q32.3) / ARHGEF4 (2q21.1)CPE (4q32.3) / GDI1 (Xq28)CPE (4q32.3) / PLEKHA5 (12p12.3)
SLFN11 (17q12) / CPE (4q32.3)SNHG6 (8q13.1) / CPE (4q32.3)CPE 4q32.3 / ARHGEF4 2q21.1
CPE 4q32.3 / PLEKHA5 12p12.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;4)(q21;q32) CPE/ARHGEF4
t(4;12)(q32;p12) CPE/PLEKHA5

External links

Nomenclature
HGNC (Hugo)CPE   2303
Cards
Entrez_Gene (NCBI)CPE  1363  carboxypeptidase E
AliasesCPH
GeneCards (Weizmann)CPE
Ensembl hg19 (Hinxton)ENSG00000109472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109472 [Gene_View]  ENSG00000109472 [Sequence]  chr4:165379008-165498547 [Contig_View]  CPE [Vega]
ICGC DataPortalENSG00000109472
TCGA cBioPortalCPE
AceView (NCBI)CPE
Genatlas (Paris)CPE
WikiGenes1363
SOURCE (Princeton)CPE
Genetics Home Reference (NIH)CPE
Genomic and cartography
GoldenPath hg38 (UCSC)CPE  -     chr4:165379008-165498547 +  4q32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPE  -     4q32.3   [Description]    (hg19-Feb_2009)
GoldenPathCPE - 4q32.3 [CytoView hg19]  CPE - 4q32.3 [CytoView hg38]
ImmunoBaseENSG00000109472
genome Data Viewer NCBICPE [Mapview hg19]  
OMIM114855   
Gene and transcription
Genbank (Entrez)AA683379 AA883804 AI340177 AK090962 AK127165
RefSeq transcript (Entrez)NM_001873
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CPE
Alternative Splicing GalleryENSG00000109472
Gene ExpressionCPE [ NCBI-GEO ]   CPE [ EBI - ARRAY_EXPRESS ]   CPE [ SEEK ]   CPE [ MEM ]
Gene Expression Viewer (FireBrowse)CPE [ Firebrowse - Broad ]
GenevisibleExpression of CPE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1363
GTEX Portal (Tissue expression)CPE
Human Protein AtlasENSG00000109472-CPE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16870   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16870  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16870
Splice isoforms : SwissVarP16870
Catalytic activity : Enzyme3.4.17.10 [ Enzyme-Expasy ]   3.4.17.103.4.17.10 [ IntEnz-EBI ]   3.4.17.10 [ BRENDA ]   3.4.17.10 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP16870
Domaine pattern : Prosite (Expaxy)CARBOXYPEPT_ZN_1 (PS00132)    CARBOXYPEPT_ZN_2 (PS00133)   
Domains : Interpro (EBI)CarboxyPept-like_regulatory    Peptidase_M14   
Domain families : Pfam (Sanger)Peptidase_M14 (PF00246)   
Domain families : Pfam (NCBI)pfam00246   
Domain families : Smart (EMBL)Zn_pept (SM00631)  
Conserved Domain (NCBI)CPE
DMDM Disease mutations1363
Blocks (Seattle)CPE
SuperfamilyP16870
Human Protein Atlas [tissue]ENSG00000109472-CPE [tissue]
Peptide AtlasP16870
HPRD00272
IPIIPI00967442   IPI00031121   IPI00853537   IPI00968280   IPI00964450   
Protein Interaction databases
DIP (DOE-UCLA)P16870
IntAct (EBI)P16870
FunCoupENSG00000109472
BioGRIDCPE
STRING (EMBL)CPE
ZODIACCPE
Ontologies - Pathways
QuickGOP16870
Ontology : AmiGOcardiac left ventricle morphogenesis  carboxypeptidase activity  metallocarboxypeptidase activity  extracellular space  nucleus  Golgi apparatus  plasma membrane  cellular protein modification process  peptide metabolic process  neuropeptide signaling pathway  zinc ion binding  Wnt signaling pathway  protein processing  insulin processing  peptide hormone secretion  transport vesicle membrane  secretory granule membrane  protein localization to secretory granule  neurexin family protein binding  cell adhesion molecule binding  extracellular exosome  protein localization to membrane  
Ontology : EGO-EBIcardiac left ventricle morphogenesis  carboxypeptidase activity  metallocarboxypeptidase activity  extracellular space  nucleus  Golgi apparatus  plasma membrane  cellular protein modification process  peptide metabolic process  neuropeptide signaling pathway  zinc ion binding  Wnt signaling pathway  protein processing  insulin processing  peptide hormone secretion  transport vesicle membrane  secretory granule membrane  protein localization to secretory granule  neurexin family protein binding  cell adhesion molecule binding  extracellular exosome  protein localization to membrane  
Pathways : KEGGType I diabetes mellitus   
NDEx NetworkCPE
Atlas of Cancer Signalling NetworkCPE
Wikipedia pathwaysCPE
Orthology - Evolution
OrthoDB1363
GeneTree (enSembl)ENSG00000109472
Phylogenetic Trees/Animal Genes : TreeFamCPE
HOGENOMP16870
Homologs : HomoloGeneCPE
Homology/Alignments : Family Browser (UCSC)CPE
Gene fusions - Rearrangements
Fusion : MitelmanCPE/ARHGEF4 [4q32.3/2q21.1]  
Fusion : MitelmanCPE/PLEKHA5 [4q32.3/12p12.3]  
Fusion PortalCPE 4q32.3 ARHGEF4 2q21.1 LGG
Fusion PortalCPE 4q32.3 PLEKHA5 12p12.3 LGG
Fusion : QuiverCPE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPE
dbVarCPE
ClinVarCPE
MonarchCPE
1000_GenomesCPE 
Exome Variant ServerCPE
GNOMAD BrowserENSG00000109472
Varsome BrowserCPE
Genetic variants : HAPMAP1363
Genomic Variants (DGV)CPE [DGVbeta]
DECIPHERCPE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPE 
Mutations
ICGC Data PortalCPE 
TCGA Data PortalCPE 
Broad Tumor PortalCPE
OASIS PortalCPE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCPE
Mutations and Diseases : HGMDCPE
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 CPE
DgiDB (Drug Gene Interaction Database)CPE
DoCM (Curated mutations)CPE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPE (select a term)
intoGenCPE
Cancer3DCPE(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114855   
Orphanet
DisGeNETCPE
MedgenCPE
Genetic Testing Registry CPE
NextProtP16870 [Medical]
TSGene1363
GENETestsCPE
Target ValidationCPE
Huge Navigator CPE [HugePedia]
snp3D : Map Gene to Disease1363
BioCentury BCIQCPE
ClinGenCPE
Clinical trials, drugs, therapy
Protein Interactions : CTD1363
Pharm GKB GenePA26824
Clinical trialCPE
Miscellaneous
canSAR (ICR)CPE (select the gene name)
HarmonizomeCPE
DataMed IndexCPE
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPE
EVEXCPE
GoPubMedCPE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:07:05 CEST 2020
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