Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CNTNAP1 (contactin associated protein 1)

Identity

Alias_namesNRXN4
Alias_symbol (synonym)p190
Caspr
CNTNAP
Other aliasCASPR
CHN3
P190
HGNC (Hugo) CNTNAP1
LocusID (NCBI) 8506
Atlas_Id 61963
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42682614 and ends at 42699993 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)
PDPK1 (16p13.3) / CNTNAP1 (17q21.2)

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)CNTNAP1   8011
Cards
Entrez_Gene (NCBI)CNTNAP1  8506  contactin associated protein 1
AliasesCASPR; CHN3; CNTNAP; NRXN4; 
P190
GeneCards (Weizmann)CNTNAP1
Ensembl hg19 (Hinxton)ENSG00000108797 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108797 [Gene_View]  ENSG00000108797 [Sequence]  chr17:42682614-42699993 [Contig_View]  CNTNAP1 [Vega]
ICGC DataPortalENSG00000108797
TCGA cBioPortalCNTNAP1
AceView (NCBI)CNTNAP1
Genatlas (Paris)CNTNAP1
WikiGenes8506
SOURCE (Princeton)CNTNAP1
Genetics Home Reference (NIH)CNTNAP1
Genomic and cartography
GoldenPath hg38 (UCSC)CNTNAP1  -     chr17:42682614-42699993 +  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNTNAP1  -     17q21.2   [Description]    (hg19-Feb_2009)
GoldenPathCNTNAP1 - 17q21.2 [CytoView hg19]  CNTNAP1 - 17q21.2 [CytoView hg38]
ImmunoBaseENSG00000108797
Mapping of homologs : NCBICNTNAP1 [Mapview hg19]  CNTNAP1 [Mapview hg38]
OMIM602346   616286   618186   
Gene and transcription
Genbank (Entrez)BC171797 BU729460 U87223
RefSeq transcript (Entrez)NM_003632
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNTNAP1
Cluster EST : UnigeneHs.408730 [ NCBI ]
CGAP (NCI)Hs.408730
Alternative Splicing GalleryENSG00000108797
Gene ExpressionCNTNAP1 [ NCBI-GEO ]   CNTNAP1 [ EBI - ARRAY_EXPRESS ]   CNTNAP1 [ SEEK ]   CNTNAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTNAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8506
GTEX Portal (Tissue expression)CNTNAP1
Human Protein AtlasENSG00000108797-CNTNAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78357   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78357  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78357
Splice isoforms : SwissVarP78357
PhosPhoSitePlusP78357
Domaine pattern : Prosite (Expaxy)EGF_3 (PS50026)    FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)    FIBRINOGEN_C_2 (PS51406)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)Caspr1    ConA-like_dom_sf    EGF-like_dom    FA58C    Fibrinogen-like_C    Fibrinogen_a/b/g_C_dom    Galactose-bd-like_sf    Laminin_G    Neurexin-like   
Domain families : Pfam (Sanger)F5_F8_type_C (PF00754)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00754    pfam02210   
Domain families : Smart (EMBL)4.1m (SM00294)  FA58C (SM00231)  LamG (SM00282)  
Conserved Domain (NCBI)CNTNAP1
DMDM Disease mutations8506
Blocks (Seattle)CNTNAP1
SuperfamilyP78357
Human Protein Atlas [tissue]ENSG00000108797-CNTNAP1 [tissue]
Peptide AtlasP78357
HPRD03825
IPIIPI00219249   
Protein Interaction databases
DIP (DOE-UCLA)P78357
IntAct (EBI)P78357
FunCoupENSG00000108797
BioGRIDCNTNAP1
STRING (EMBL)CNTNAP1
ZODIACCNTNAP1
Ontologies - Pathways
QuickGOP78357
Ontology : AmiGOprotein localization to paranode region of axon  SH3/SH2 adaptor activity  protein binding  integral component of plasma membrane  cytoskeleton organization  cell adhesion  signal transduction  positive regulation of signal transduction  integral component of membrane  SH3 domain binding  neuronal action potential propagation  central nervous system myelination  myelination in peripheral nervous system  paranodal junction assembly  paranodal junction assembly  paranodal junction  paranode region of axon  signaling receptor activity  presynaptic active zone membrane  neuron projection morphogenesis  neuron projection morphogenesis  neuromuscular process controlling posture  neuromuscular process controlling balance  protein localization to juxtaparanode region of axon  
Ontology : EGO-EBIprotein localization to paranode region of axon  SH3/SH2 adaptor activity  protein binding  integral component of plasma membrane  cytoskeleton organization  cell adhesion  signal transduction  positive regulation of signal transduction  integral component of membrane  SH3 domain binding  neuronal action potential propagation  central nervous system myelination  myelination in peripheral nervous system  paranodal junction assembly  paranodal junction assembly  paranodal junction  paranode region of axon  signaling receptor activity  presynaptic active zone membrane  neuron projection morphogenesis  neuron projection morphogenesis  neuromuscular process controlling posture  neuromuscular process controlling balance  protein localization to juxtaparanode region of axon  
Pathways : KEGGCell adhesion molecules (CAMs)   
NDEx NetworkCNTNAP1
Atlas of Cancer Signalling NetworkCNTNAP1
Wikipedia pathwaysCNTNAP1
Orthology - Evolution
OrthoDB8506
GeneTree (enSembl)ENSG00000108797
Phylogenetic Trees/Animal Genes : TreeFamCNTNAP1
HOGENOMP78357
Homologs : HomoloGeneCNTNAP1
Homology/Alignments : Family Browser (UCSC)CNTNAP1
Gene fusions - Rearrangements
Fusion : QuiverCNTNAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTNAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTNAP1
dbVarCNTNAP1
ClinVarCNTNAP1
1000_GenomesCNTNAP1 
Exome Variant ServerCNTNAP1
ExAC (Exome Aggregation Consortium)ENSG00000108797
GNOMAD BrowserENSG00000108797
Varsome BrowserCNTNAP1
Genetic variants : HAPMAP8506
Genomic Variants (DGV)CNTNAP1 [DGVbeta]
DECIPHERCNTNAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNTNAP1 
Mutations
ICGC Data PortalCNTNAP1 
TCGA Data PortalCNTNAP1 
Broad Tumor PortalCNTNAP1
OASIS PortalCNTNAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNTNAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCNTNAP1
Mutations and Diseases : HGMDCNTNAP1
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 CNTNAP1
DgiDB (Drug Gene Interaction Database)CNTNAP1
DoCM (Curated mutations)CNTNAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNTNAP1 (select a term)
intoGenCNTNAP1
Cancer3DCNTNAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602346    616286    618186   
Orphanet3207   
DisGeNETCNTNAP1
MedgenCNTNAP1
Genetic Testing Registry CNTNAP1
NextProtP78357 [Medical]
TSGene8506
GENETestsCNTNAP1
Target ValidationCNTNAP1
Huge Navigator CNTNAP1 [HugePedia]
snp3D : Map Gene to Disease8506
BioCentury BCIQCNTNAP1
ClinGenCNTNAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8506
Chemical/Pharm GKB GenePA26691
Clinical trialCNTNAP1
Miscellaneous
canSAR (ICR)CNTNAP1 (select the gene name)
DataMed IndexCNTNAP1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNTNAP1
EVEXCNTNAP1
GoPubMedCNTNAP1
iHOPCNTNAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:24:16 CEST 2019

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