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CPNE1 (copine 1)

Identity

Alias (NCBI)COPN1
CPN1
HGNC (Hugo) CPNE1
HGNC Alias symbCPN1
HGNC Previous namecopine I
LocusID (NCBI) 8904
Atlas_Id 45925
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35626044 and ends at 35664900 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)
CPNE1 (20q11.22) / AVL9 (7p14.3)CPNE1 (20q11.22) / DMD (Xp21.2)CPNE1 (20q11.22) / PAPD4 (5q14.1)
CPNE1 (20q11.22) / PI3 (20q13.12)CREBL2 (12p13.2) / CPNE1 (20q11.22)RBL1 (20q11.23) / CPNE1 (20q11.22)
SERPING1 (11q12.1) / CPNE1 (20q11.22)CPNE1 20q11.22 / DMD Xp21.2RBL1 20q11.23 / CPNE1 20q11.22

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)CPNE1   2314
Cards
Entrez_Gene (NCBI)CPNE1    copine 1
AliasesCOPN1; CPN1
GeneCards (Weizmann)CPNE1
Ensembl hg19 (Hinxton)ENSG00000214078 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214078 [Gene_View]  ENSG00000214078 [Sequence]  chr20:35626044-35664900 [Contig_View]  CPNE1 [Vega]
ICGC DataPortalENSG00000214078
TCGA cBioPortalCPNE1
AceView (NCBI)CPNE1
Genatlas (Paris)CPNE1
SOURCE (Princeton)CPNE1
Genetics Home Reference (NIH)CPNE1
Genomic and cartography
GoldenPath hg38 (UCSC)CPNE1  -     chr20:35626044-35664900 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPNE1  -     20q11.22   [Description]    (hg19-Feb_2009)
GoldenPathCPNE1 - 20q11.22 [CytoView hg19]  CPNE1 - 20q11.22 [CytoView hg38]
ImmunoBaseENSG00000214078
Genome Data Viewer NCBICPNE1 [Mapview hg19]  
OMIM604205   
Gene and transcription
Genbank (Entrez)AB209827 AF314092 AI075146 AK308795 AW964878
RefSeq transcript (Entrez)NM_001198863 NM_003915 NM_152925 NM_152926 NM_152927 NM_152928 NM_152930 NM_152931
Consensus coding sequences : CCDS (NCBI)CPNE1
Gene ExpressionCPNE1 [ NCBI-GEO ]   CPNE1 [ EBI - ARRAY_EXPRESS ]   CPNE1 [ SEEK ]   CPNE1 [ MEM ]
Gene Expression Viewer (FireBrowse)CPNE1 [ Firebrowse - Broad ]
GenevisibleExpression of CPNE1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8904
GTEX Portal (Tissue expression)CPNE1
Human Protein AtlasENSG00000214078-CPNE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99829   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99829  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99829
PhosPhoSitePlusQ99829
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    C2B_Copine    Copine    VWF_A    vWFA_dom_sf   
Domain families : Pfam (Sanger)C2 (PF00168)    Copine (PF07002)   
Domain families : Pfam (NCBI)pfam00168    pfam07002   
Domain families : Smart (EMBL)C2 (SM00239)  VWA (SM00327)  
Conserved Domain (NCBI)CPNE1
SuperfamilyQ99829
AlphaFold pdb e-kbQ99829   
Human Protein Atlas [tissue]ENSG00000214078-CPNE1 [tissue]
HPRD05014
Protein Interaction databases
DIP (DOE-UCLA)Q99829
IntAct (EBI)Q99829
BioGRIDCPNE1
STRING (EMBL)CPNE1
ZODIACCPNE1
Ontologies - Pathways
QuickGOQ99829
Ontology : AmiGOphosphatidylserine binding  endopeptidase activity  transporter activity  calcium ion binding  protein binding  calcium-dependent phospholipid binding  nucleus  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  proteolysis  lipid metabolic process  negative regulation of gene expression  membrane  vesicle-mediated transport  nuclear membrane  azurophil granule membrane  identical protein binding  regulation of I-kappaB kinase/NF-kappaB signaling  regulation of I-kappaB kinase/NF-kappaB signaling  neutrophil degranulation  negative regulation of DNA binding  positive regulation of neuron differentiation  positive regulation of neuron differentiation  glycerophospholipid biosynthetic process  NF-kappaB binding  positive regulation of protein kinase B signaling  positive regulation of protein kinase B signaling  extracellular exosome  cellular response to calcium ion  cellular response to calcium ion  negative regulation of NIK/NF-kappaB signaling  positive regulation of tumor necrosis factor-mediated signaling pathway  positive regulation of tumor necrosis factor-mediated signaling pathway  neuron projection extension  neuron projection extension  
Ontology : EGO-EBIphosphatidylserine binding  endopeptidase activity  transporter activity  calcium ion binding  protein binding  calcium-dependent phospholipid binding  nucleus  nucleoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  proteolysis  lipid metabolic process  negative regulation of gene expression  membrane  vesicle-mediated transport  nuclear membrane  azurophil granule membrane  identical protein binding  regulation of I-kappaB kinase/NF-kappaB signaling  regulation of I-kappaB kinase/NF-kappaB signaling  neutrophil degranulation  negative regulation of DNA binding  positive regulation of neuron differentiation  positive regulation of neuron differentiation  glycerophospholipid biosynthetic process  NF-kappaB binding  positive regulation of protein kinase B signaling  positive regulation of protein kinase B signaling  extracellular exosome  cellular response to calcium ion  cellular response to calcium ion  negative regulation of NIK/NF-kappaB signaling  positive regulation of tumor necrosis factor-mediated signaling pathway  positive regulation of tumor necrosis factor-mediated signaling pathway  neuron projection extension  neuron projection extension  
NDEx NetworkCPNE1
Atlas of Cancer Signalling NetworkCPNE1
Wikipedia pathwaysCPNE1
Orthology - Evolution
OrthoDB8904
GeneTree (enSembl)ENSG00000214078
Phylogenetic Trees/Animal Genes : TreeFamCPNE1
Homologs : HomoloGeneCPNE1
Homology/Alignments : Family Browser (UCSC)CPNE1
Gene fusions - Rearrangements
Fusion : MitelmanCPNE1/DMD [20q11.22/Xp21.2]  
Fusion : MitelmanCPNE1/PI3 [20q11.22/20q13.12]  
Fusion : MitelmanRBL1/CPNE1 [20q11.23/20q11.22]  
Fusion : QuiverCPNE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPNE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPNE1
dbVarCPNE1
ClinVarCPNE1
MonarchCPNE1
1000_GenomesCPNE1 
Exome Variant ServerCPNE1
GNOMAD BrowserENSG00000214078
Varsome BrowserCPNE1
ACMGCPNE1 variants
VarityQ99829
Genomic Variants (DGV)CPNE1 [DGVbeta]
DECIPHERCPNE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPNE1 
Mutations
ICGC Data PortalCPNE1 
TCGA Data PortalCPNE1 
Broad Tumor PortalCPNE1
OASIS PortalCPNE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPNE1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCPNE1
Mutations and Diseases : HGMDCPNE1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCPNE1
DgiDB (Drug Gene Interaction Database)CPNE1
DoCM (Curated mutations)CPNE1
CIViC (Clinical Interpretations of Variants in Cancer)CPNE1
Cancer3DCPNE1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604205   
Orphanet
DisGeNETCPNE1
MedgenCPNE1
Genetic Testing Registry CPNE1
NextProtQ99829 [Medical]
GENETestsCPNE1
Target ValidationCPNE1
Huge Navigator CPNE1 [HugePedia]
ClinGenCPNE1
Clinical trials, drugs, therapy
MyCancerGenomeCPNE1
Protein Interactions : CTDCPNE1
Pharm GKB GenePA26831
PharosQ99829
Clinical trialCPNE1
Miscellaneous
canSAR (ICR)CPNE1
HarmonizomeCPNE1
DataMed IndexCPNE1
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCPNE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:05:02 CEST 2021

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