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CNTN1 (contactin 1)

Identity

Alias_symbol (synonym)F3
GP135
Other aliasMYPCN
HGNC (Hugo) CNTN1
LocusID (NCBI) 1272
Atlas_Id 40117
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 40692442 and ends at 40972717 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CNTN1 (12q12) / SBNO1 (12q24.31)CNTN1 (12q12) / TSPAN8 (12q21.1)CPNE8 (12q12) / CNTN1 (12q12)
USP15 (12q14.1) / CNTN1 (12q12)ZNF804A (2q32.1) / CNTN1 (12q12)CNTN1 12q12 / TSPAN8 12q21.1
CPNE8 12q12 / CNTN1 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

 


External links

Nomenclature
HGNC (Hugo)CNTN1   2171
Cards
Entrez_Gene (NCBI)CNTN1  1272  contactin 1
AliasesF3; GP135; MYPCN
GeneCards (Weizmann)CNTN1
Ensembl hg19 (Hinxton)ENSG00000018236 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000018236 [Gene_View]  chr12:40692442-40972717 [Contig_View]  CNTN1 [Vega]
ICGC DataPortalENSG00000018236
TCGA cBioPortalCNTN1
AceView (NCBI)CNTN1
Genatlas (Paris)CNTN1
WikiGenes1272
SOURCE (Princeton)CNTN1
Genetics Home Reference (NIH)CNTN1
Genomic and cartography
GoldenPath hg38 (UCSC)CNTN1  -     chr12:40692442-40972717 +  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNTN1  -     12q12   [Description]    (hg19-Feb_2009)
EnsemblCNTN1 - 12q12 [CytoView hg19]  CNTN1 - 12q12 [CytoView hg38]
Mapping of homologs : NCBICNTN1 [Mapview hg19]  CNTN1 [Mapview hg38]
OMIM600016   612540   
Gene and transcription
Genbank (Entrez)AI473107 AK289544 AK289698 BC036569 BM717031
RefSeq transcript (Entrez)NM_001256063 NM_001256064 NM_001843 NM_175038
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNTN1
Cluster EST : UnigeneHs.741112 [ NCBI ]
CGAP (NCI)Hs.741112
Alternative Splicing GalleryENSG00000018236
Gene ExpressionCNTN1 [ NCBI-GEO ]   CNTN1 [ EBI - ARRAY_EXPRESS ]   CNTN1 [ SEEK ]   CNTN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1272
GTEX Portal (Tissue expression)CNTN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12860   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12860  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12860
Splice isoforms : SwissVarQ12860
PhosPhoSitePlusQ12860
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)Contactin-1/2    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)CNTN1
DMDM Disease mutations1272
Blocks (Seattle)CNTN1
PDB (SRS)2EE2    3S97   
PDB (PDBSum)2EE2    3S97   
PDB (IMB)2EE2    3S97   
PDB (RSDB)2EE2    3S97   
Structural Biology KnowledgeBase2EE2    3S97   
SCOP (Structural Classification of Proteins)2EE2    3S97   
CATH (Classification of proteins structures)2EE2    3S97   
SuperfamilyQ12860
Human Protein AtlasENSG00000018236
Peptide AtlasQ12860
HPRD07189
IPIIPI00029751   IPI00216641   IPI00479304   IPI01023061   IPI01022910   IPI01021262   IPI01022324   IPI01022276   
Protein Interaction databases
DIP (DOE-UCLA)Q12860
IntAct (EBI)Q12860
FunCoupENSG00000018236
BioGRIDCNTN1
STRING (EMBL)CNTN1
ZODIACCNTN1
Ontologies - Pathways
QuickGOQ12860
Ontology : AmiGOglycoprotein binding  plasma membrane  cell adhesion  Notch signaling pathway  positive regulation of gene expression  positive regulation of sodium ion transport  positive regulation of neuron projection development  membrane  cerebellum development  carbohydrate binding  neuron projection development  anchored component of membrane  myelin sheath  membrane raft  positive regulation of peptidyl-tyrosine phosphorylation  extracellular exosome  
Ontology : EGO-EBIglycoprotein binding  plasma membrane  cell adhesion  Notch signaling pathway  positive regulation of gene expression  positive regulation of sodium ion transport  positive regulation of neuron projection development  membrane  cerebellum development  carbohydrate binding  neuron projection development  anchored component of membrane  myelin sheath  membrane raft  positive regulation of peptidyl-tyrosine phosphorylation  extracellular exosome  
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkCNTN1
Atlas of Cancer Signalling NetworkCNTN1
Wikipedia pathwaysCNTN1
Orthology - Evolution
OrthoDB1272
GeneTree (enSembl)ENSG00000018236
Phylogenetic Trees/Animal Genes : TreeFamCNTN1
HOVERGENQ12860
HOGENOMQ12860
Homologs : HomoloGeneCNTN1
Homology/Alignments : Family Browser (UCSC)CNTN1
Gene fusions - Rearrangements
Fusion : MitelmanCNTN1/TSPAN8 [12q12/12q21.1]  
Fusion : MitelmanUSP15/CNTN1 [12q14.1/12q12]  [t(12;12)(q12;q14)]  
Fusion: TCGACNTN1 12q12 TSPAN8 12q21.1 LUAD
Fusion: TCGACPNE8 12q12 CNTN1 12q12 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTN1
dbVarCNTN1
ClinVarCNTN1
1000_GenomesCNTN1 
Exome Variant ServerCNTN1
ExAC (Exome Aggregation Consortium)CNTN1 (select the gene name)
Genetic variants : HAPMAP1272
Genomic Variants (DGV)CNTN1 [DGVbeta]
DECIPHERCNTN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNTN1 
Mutations
ICGC Data PortalCNTN1 
TCGA Data PortalCNTN1 
Broad Tumor PortalCNTN1
OASIS PortalCNTN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNTN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNTN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CNTN1
DgiDB (Drug Gene Interaction Database)CNTN1
DoCM (Curated mutations)CNTN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNTN1 (select a term)
intoGenCNTN1
Cancer3DCNTN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600016    612540   
Orphanet18691   
MedgenCNTN1
Genetic Testing Registry CNTN1
NextProtQ12860 [Medical]
TSGene1272
GENETestsCNTN1
Target ValidationCNTN1
Huge Navigator CNTN1 [HugePedia]
snp3D : Map Gene to Disease1272
BioCentury BCIQCNTN1
ClinGenCNTN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1272
Chemical/Pharm GKB GenePA26685
Clinical trialCNTN1
Miscellaneous
canSAR (ICR)CNTN1 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNTN1
EVEXCNTN1
GoPubMedCNTN1
iHOPCNTN1
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 18 13:50:16 CEST 2017

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