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CPNE8 (copine 8)

Identity

Alias_namescopine VIII
Other alias-
HGNC (Hugo) CPNE8
LocusID (NCBI) 144402
Atlas_Id 42890
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 39046002 and ends at 39299420 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CPNE8 (12q12) / CADM2 (3p12.1)CPNE8 (12q12) / CNTN1 (12q12)LCOR (10q24.1) / CPNE8 (12q12)
RHPN2 (19q13.11) / CPNE8 (12q12)RUNX1 (21q22.12) / CPNE8 (12q12)CPNE8 12q12 / CADM2 3p12.1
CPNE8 12q12 / CNTN1 12q12LCOR 10q24.1 / CPNE8 12q12

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;21)(q12;q22) RUNX1 truncated


External links

Nomenclature
HGNC (Hugo)CPNE8   23498
Cards
Entrez_Gene (NCBI)CPNE8  144402  copine 8
Aliases
GeneCards (Weizmann)CPNE8
Ensembl hg19 (Hinxton)ENSG00000139117 [Gene_View]  chr12:39046002-39299420 [Contig_View]  CPNE8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139117 [Gene_View]  chr12:39046002-39299420 [Contig_View]  CPNE8 [Vega]
ICGC DataPortalENSG00000139117
TCGA cBioPortalCPNE8
AceView (NCBI)CPNE8
Genatlas (Paris)CPNE8
WikiGenes144402
SOURCE (Princeton)CPNE8
Genetics Home Reference (NIH)CPNE8
Genomic and cartography
GoldenPath hg19 (UCSC)CPNE8  -     chr12:39046002-39299420 -  12q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CPNE8  -     12q12   [Description]    (hg38-Dec_2013)
EnsemblCPNE8 - 12q12 [CytoView hg19]  CPNE8 - 12q12 [CytoView hg38]
Mapping of homologs : NCBICPNE8 [Mapview hg19]  CPNE8 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK074223 AK094998 AK098593 AK307908 AM392913
RefSeq transcript (Entrez)NM_153634
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)CPNE8
Cluster EST : UnigeneHs.40910 [ NCBI ]
CGAP (NCI)Hs.40910
Alternative Splicing GalleryENSG00000139117
Gene ExpressionCPNE8 [ NCBI-GEO ]   CPNE8 [ EBI - ARRAY_EXPRESS ]   CPNE8 [ SEEK ]   CPNE8 [ MEM ]
Gene Expression Viewer (FireBrowse)CPNE8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144402
GTEX Portal (Tissue expression)CPNE8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YQ8
Splice isoforms : SwissVarQ86YQ8
PhosPhoSitePlusQ86YQ8
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    VWFA (PS50234)   
Domains : Interpro (EBI)C2_dom    Copine    VWF_A   
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)CPNE8
DMDM Disease mutations144402
Blocks (Seattle)CPNE8
SuperfamilyQ86YQ8
Human Protein AtlasENSG00000139117
Peptide AtlasQ86YQ8
HPRD16747
IPIIPI00384746   IPI00793395   IPI00334276   IPI01021713   
Protein Interaction databases
DIP (DOE-UCLA)Q86YQ8
IntAct (EBI)Q86YQ8
FunCoupENSG00000139117
BioGRIDCPNE8
STRING (EMBL)CPNE8
ZODIACCPNE8
Ontologies - Pathways
QuickGOQ86YQ8
Ontology : AmiGOmolecular_function  biological_process  extracellular exosome  
Ontology : EGO-EBImolecular_function  biological_process  extracellular exosome  
NDEx NetworkCPNE8
Atlas of Cancer Signalling NetworkCPNE8
Wikipedia pathwaysCPNE8
Orthology - Evolution
OrthoDB144402
GeneTree (enSembl)ENSG00000139117
Phylogenetic Trees/Animal Genes : TreeFamCPNE8
HOVERGENQ86YQ8
HOGENOMQ86YQ8
Homologs : HomoloGeneCPNE8
Homology/Alignments : Family Browser (UCSC)CPNE8
Gene fusions - Rearrangements
Fusion : MitelmanCPNE8/CADM2 [12q12/3p12.1]  
Fusion : MitelmanLCOR/CPNE8 [10q24.1/12q12]  [t(10;12)(q24;q12)]  
Fusion : MitelmanRUNX1/CPNE8 [21q22.12/12q12]  [t(12;21)(q12;q22)]  
Fusion: TCGACPNE8 12q12 CADM2 3p12.1 LUAD
Fusion: TCGACPNE8 12q12 CNTN1 12q12 LUAD
Fusion: TCGALCOR 10q24.1 CPNE8 12q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPNE8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPNE8
dbVarCPNE8
ClinVarCPNE8
1000_GenomesCPNE8 
Exome Variant ServerCPNE8
ExAC (Exome Aggregation Consortium)CPNE8 (select the gene name)
Genetic variants : HAPMAP144402
Genomic Variants (DGV)CPNE8 [DGVbeta]
DECIPHER (Syndromes)12:39046002-39299420  ENSG00000139117
CONAN: Copy Number AnalysisCPNE8 
Mutations
ICGC Data PortalCPNE8 
TCGA Data PortalCPNE8 
Broad Tumor PortalCPNE8
OASIS PortalCPNE8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPNE8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCPNE8
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 CPNE8
DgiDB (Drug Gene Interaction Database)CPNE8
DoCM (Curated mutations)CPNE8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CPNE8 (select a term)
intoGenCPNE8
Cancer3DCPNE8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCPNE8
Genetic Testing Registry CPNE8
NextProtQ86YQ8 [Medical]
TSGene144402
GENETestsCPNE8
Huge Navigator CPNE8 [HugePedia]
snp3D : Map Gene to Disease144402
BioCentury BCIQCPNE8
ClinGenCPNE8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144402
Chemical/Pharm GKB GenePA134980029
Clinical trialCPNE8
Miscellaneous
canSAR (ICR)CPNE8 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCPNE8
EVEXCPNE8
GoPubMedCPNE8
iHOPCPNE8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:01:34 CET 2017

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