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CNTN5 (contactin 5)

Identity

Alias_symbol (synonym)NB-2
hNB-2
Other aliasHNB-2s
HGNC (Hugo) CNTN5
LocusID (NCBI) 53942
Atlas_Id 40120
Location 11q22.1  [Link to chromosome band 11q22]
Location_base_pair Starts at 99020976 and ends at 100358885 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF12 (11q23.3) / CNTN5 (11q22.1)CNTN5 (11q22.1) / CNTN5 (11q22.1)CNTN5 (11q22.1) / TTYH1 (19q13.42)
DYNC2H1 (11q22.3) / CNTN5 (11q22.1)HS3ST1 (4p15.33) / CNTN5 (11q22.1)LRRCC1 (8q21.2) / CNTN5 (11q22.1)
MAML2 (11q21) / CNTN5 (11q22.1)NAV2 (11p15.1) / CNTN5 (11q22.1)PPP6R3 (11q13.2) / CNTN5 (11q22.1)
SART1 (11q13.1) / CNTN5 (11q22.1)TMEM123 (11q22.2) / CNTN5 (11q22.1)TOX3 (16q12.1) / CNTN5 (11q22.1)
ARHGEF12 11q23.3 / CNTN5 11q22.1CNTN5 11q22.1 / TTYH1 19q13.42HS3ST1 4p15.33 / CNTN5 11q22.1
MAML2 11q21 / CNTN5 11q22.1NAV2 11p15.1 / CNTN5 11q22.1SART1 11q13.1 / CNTN5 11q22.1
TMEM123 11q22.2 / CNTN5 11q22.1TOX3 16q12.1 / CNTN5 11q22.1

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)CNTN5   2175
Cards
Entrez_Gene (NCBI)CNTN5  53942  contactin 5
AliasesHNB-2s; NB-2
GeneCards (Weizmann)CNTN5
Ensembl hg19 (Hinxton)ENSG00000149972 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149972 [Gene_View]  chr11:99020976-100358885 [Contig_View]  CNTN5 [Vega]
ICGC DataPortalENSG00000149972
TCGA cBioPortalCNTN5
AceView (NCBI)CNTN5
Genatlas (Paris)CNTN5
WikiGenes53942
SOURCE (Princeton)CNTN5
Genetics Home Reference (NIH)CNTN5
Genomic and cartography
GoldenPath hg38 (UCSC)CNTN5  -     chr11:99020976-100358885 +  11q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNTN5  -     11q22.1   [Description]    (hg19-Feb_2009)
EnsemblCNTN5 - 11q22.1 [CytoView hg19]  CNTN5 - 11q22.1 [CytoView hg38]
Mapping of homologs : NCBICNTN5 [Mapview hg19]  CNTN5 [Mapview hg38]
OMIM607219   
Gene and transcription
Genbank (Entrez)AB013802 AB013803 AK294692 AK308788 BC039255
RefSeq transcript (Entrez)NM_001243270 NM_001243271 NM_014361 NM_175566
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNTN5
Cluster EST : UnigeneHs.656783 [ NCBI ]
CGAP (NCI)Hs.656783
Alternative Splicing GalleryENSG00000149972
Gene ExpressionCNTN5 [ NCBI-GEO ]   CNTN5 [ EBI - ARRAY_EXPRESS ]   CNTN5 [ SEEK ]   CNTN5 [ MEM ]
Gene Expression Viewer (FireBrowse)CNTN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53942
GTEX Portal (Tissue expression)CNTN5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94779   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94779  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94779
Splice isoforms : SwissVarO94779
PhosPhoSitePlusO94779
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    Ig_2 (PF13895)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam13895   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)CNTN5
DMDM Disease mutations53942
Blocks (Seattle)CNTN5
PDB (SRS)4N68    5E52   
PDB (PDBSum)4N68    5E52   
PDB (IMB)4N68    5E52   
PDB (RSDB)4N68    5E52   
Structural Biology KnowledgeBase4N68    5E52   
SCOP (Structural Classification of Proteins)4N68    5E52   
CATH (Classification of proteins structures)4N68    5E52   
SuperfamilyO94779
Human Protein AtlasENSG00000149972
Peptide AtlasO94779
HPRD06241
IPIIPI00219130   IPI00182438   IPI00982420   IPI00978153   
Protein Interaction databases
DIP (DOE-UCLA)O94779
IntAct (EBI)O94779
FunCoupENSG00000149972
BioGRIDCNTN5
STRING (EMBL)CNTN5
ZODIACCNTN5
Ontologies - Pathways
QuickGOO94779
Ontology : AmiGOextracellular region  cytosol  plasma membrane  C-terminal protein lipidation  cell adhesion  sensory perception of sound  anchored component of membrane  
Ontology : EGO-EBIextracellular region  cytosol  plasma membrane  C-terminal protein lipidation  cell adhesion  sensory perception of sound  anchored component of membrane  
NDEx NetworkCNTN5
Atlas of Cancer Signalling NetworkCNTN5
Wikipedia pathwaysCNTN5
Orthology - Evolution
OrthoDB53942
GeneTree (enSembl)ENSG00000149972
Phylogenetic Trees/Animal Genes : TreeFamCNTN5
HOVERGENO94779
HOGENOMO94779
Homologs : HomoloGeneCNTN5
Homology/Alignments : Family Browser (UCSC)CNTN5
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF12/CNTN5 [11q23.3/11q22.1]  [t(11;11)(q22;q23)]  
Fusion : MitelmanCNTN5/TTYH1 [11q22.1/19q13.42]  [t(11;19)(q22;q13)]  
Fusion : MitelmanHS3ST1/CNTN5 [4p15.33/11q22.1]  [t(4;11)(p15;q22)]  
Fusion : MitelmanMAML2/CNTN5 [11q21/11q22.1]  [t(11;11)(q21;q22)]  
Fusion : MitelmanNAV2/CNTN5 [11p15.1/11q22.1]  [t(11;11)(p15;q22)]  
Fusion : MitelmanPPP6R3/CNTN5 [11q13.2/11q22.1]  [t(11;11)(q13;q22)]  
Fusion : MitelmanSART1/CNTN5 [11q13.1/11q22.1]  [t(11;11)(q13;q22)]  
Fusion : MitelmanTMEM123/CNTN5 [11q22.2/11q22.1]  [t(11;11)(q22;q22)]  
Fusion : MitelmanTOX3/CNTN5 [16q12.1/11q22.1]  [t(11;16)(q22;q12)]  
Fusion: TCGAARHGEF12 11q23.3 CNTN5 11q22.1 LUAD
Fusion: TCGACNTN5 11q22.1 TTYH1 19q13.42 LUSC
Fusion: TCGAHS3ST1 4p15.33 CNTN5 11q22.1 KIRC
Fusion: TCGAMAML2 11q21 CNTN5 11q22.1 BRCA
Fusion: TCGANAV2 11p15.1 CNTN5 11q22.1 BRCA LUAD
Fusion: TCGASART1 11q13.1 CNTN5 11q22.1 HNSC
Fusion: TCGATMEM123 11q22.2 CNTN5 11q22.1 BRCA
Fusion: TCGATOX3 16q12.1 CNTN5 11q22.1 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNTN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNTN5
dbVarCNTN5
ClinVarCNTN5
1000_GenomesCNTN5 
Exome Variant ServerCNTN5
ExAC (Exome Aggregation Consortium)CNTN5 (select the gene name)
Genetic variants : HAPMAP53942
Genomic Variants (DGV)CNTN5 [DGVbeta]
DECIPHERCNTN5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNTN5 
Mutations
ICGC Data PortalCNTN5 
TCGA Data PortalCNTN5 
Broad Tumor PortalCNTN5
OASIS PortalCNTN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNTN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNTN5
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 CNTN5
DgiDB (Drug Gene Interaction Database)CNTN5
DoCM (Curated mutations)CNTN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNTN5 (select a term)
intoGenCNTN5
Cancer3DCNTN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607219   
Orphanet
MedgenCNTN5
Genetic Testing Registry CNTN5
NextProtO94779 [Medical]
TSGene53942
GENETestsCNTN5
Target ValidationCNTN5
Huge Navigator CNTN5 [HugePedia]
snp3D : Map Gene to Disease53942
BioCentury BCIQCNTN5
ClinGenCNTN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53942
Chemical/Pharm GKB GenePA26689
Clinical trialCNTN5
Miscellaneous
canSAR (ICR)CNTN5 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNTN5
EVEXCNTN5
GoPubMedCNTN5
iHOPCNTN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:58:16 CEST 2017

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