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CPNE1 (copine 1)

Identity

Alias_namescopine I
Alias_symbol (synonym)CPN1
Other aliasCOPN1
HGNC (Hugo) CPNE1
LocusID (NCBI) 8904
Atlas_Id 45925
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35626031 and ends at 35664956 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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(X;20)(p21;q11) CPNE1/DMD
RBL1/CPNE1 (20q11)
t(20;20)(q11;q13) CPNE1/PI3


External links

Nomenclature
HGNC (Hugo)CPNE1   2314
Cards
Entrez_Gene (NCBI)CPNE1  8904  copine 1
AliasesCOPN1; CPN1
GeneCards (Weizmann)CPNE1
Ensembl hg19 (Hinxton)ENSG00000214078 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214078 [Gene_View]  ENSG00000214078 [Sequence]  chr20:35626031-35664956 [Contig_View]  CPNE1 [Vega]
ICGC DataPortalENSG00000214078
TCGA cBioPortalCPNE1
AceView (NCBI)CPNE1
Genatlas (Paris)CPNE1
WikiGenes8904
SOURCE (Princeton)CPNE1
Genetics Home Reference (NIH)CPNE1
Genomic and cartography
GoldenPath hg38 (UCSC)CPNE1  -     chr20:35626031-35664956 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPNE1  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblCPNE1 - 20q11.22 [CytoView hg19]  CPNE1 - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBICPNE1 [Mapview hg19]  CPNE1 [Mapview hg38]
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
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CPNE1
Cluster EST : UnigeneHs.700188 [ NCBI ]
CGAP (NCI)Hs.700188
Alternative Splicing GalleryENSG00000214078
Gene ExpressionCPNE1 [ NCBI-GEO ]   CPNE1 [ EBI - ARRAY_EXPRESS ]   CPNE1 [ SEEK ]   CPNE1 [ MEM ]
Gene Expression Viewer (FireBrowse)CPNE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ99829
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
DMDM Disease mutations8904
Blocks (Seattle)CPNE1
SuperfamilyQ99829
Human Protein Atlas [tissue]ENSG00000214078-CPNE1 [tissue]
Peptide AtlasQ99829
HPRD05014
IPIIPI00018452   IPI00917016   IPI00894409   IPI00643325   IPI00645270   IPI00645712   IPI00642168   IPI00642736   IPI00647692   IPI00646121   IPI00644561   IPI00552982   IPI00642976   IPI00643422   IPI00640313   IPI00645385   IPI00852917   IPI00892994   IPI00917163   
Protein Interaction databases
DIP (DOE-UCLA)Q99829
IntAct (EBI)Q99829
FunCoupENSG00000214078
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  protein homodimerization activity  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  protein homodimerization activity  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
HOVERGENQ99829
HOGENOMQ99829
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]  [t(20;20)(q11;q13)]  
Fusion : MitelmanRBL1/CPNE1 [20q11.23/20q11.22]  [t(20;20)(q11;q11)]  
Fusion PortalCPNE1 20q11.22 DMD Xp21.2 LUAD
Fusion PortalRBL1 20q11.23 CPNE1 20q11.22 BRCA
Fusion : QuiverCPNE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPNE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPNE1
dbVarCPNE1
ClinVarCPNE1
1000_GenomesCPNE1 
Exome Variant ServerCPNE1
ExAC (Exome Aggregation Consortium)ENSG00000214078
GNOMAD BrowserENSG00000214078
Varsome BrowserCPNE1
Genetic variants : HAPMAP8904
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]  
Mutations and Diseases : HGMDCPNE1
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 CPNE1
DgiDB (Drug Gene Interaction Database)CPNE1
DoCM (Curated mutations)CPNE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPNE1 (select a term)
intoGenCPNE1
Cancer3DCPNE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604205   
Orphanet
DisGeNETCPNE1
MedgenCPNE1
Genetic Testing Registry CPNE1
NextProtQ99829 [Medical]
TSGene8904
GENETestsCPNE1
Target ValidationCPNE1
Huge Navigator CPNE1 [HugePedia]
snp3D : Map Gene to Disease8904
BioCentury BCIQCPNE1
ClinGenCPNE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8904
Chemical/Pharm GKB GenePA26831
Clinical trialCPNE1
Miscellaneous
canSAR (ICR)CPNE1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPNE1
EVEXCPNE1
GoPubMedCPNE1
iHOPCPNE1
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 : Tue Nov 6 10:59:56 CET 2018

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