Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NCAM1 (neural cell adhesion molecule 1)

Identity

Alias_symbol (synonym)NCAM
CD56
Other aliasMSK39
HGNC (Hugo) NCAM1
LocusID (NCBI) 4684
Atlas_Id 41503
Location 11q23.2  [Link to chromosome band 11q23]
Location_base_pair Starts at 112831969 and ends at 113149158 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C2CD3 (11q13.4) / NCAM1 (11q23.2)CDK5RAP2 (9q33.2) / NCAM1 (11q23.2)MRPL9 (1q21.3) / NCAM1 (11q23.2)
NCAM1 (11q23.2) / CALM3 (19q13.32)NCAM1 (11q23.2) / CDK5RAP2 (9q33.2)NCAM1 (11q23.2) / NCAM1 (11q23.2)
NCAM1 (11q23.2) / RABEP1 (17p13.2)NLGN1 (3q26.31) / NCAM1 (11q23.2)POSTN (13q13.3) / NCAM1 (11q23.2)
C2CD3 11q13.4 / NCAM1 11q23.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  dic(9;17)(p13;q11) PAX5/TAOK1
Hepatosplenic T-cell lymphoma (HSTCL)
inv(16)(p13q24) CBFA2T3/GLIS2
Nasal T cell lymphoma


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Liver: Nested stromal epithelial tumor
Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)NCAM1   7656
Cards
Entrez_Gene (NCBI)NCAM1  4684  neural cell adhesion molecule 1
AliasesCD56; MSK39; NCAM
GeneCards (Weizmann)NCAM1
Ensembl hg19 (Hinxton)ENSG00000149294 [Gene_View]  chr11:112831969-113149158 [Contig_View]  NCAM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000149294 [Gene_View]  chr11:112831969-113149158 [Contig_View]  NCAM1 [Vega]
ICGC DataPortalENSG00000149294
TCGA cBioPortalNCAM1
AceView (NCBI)NCAM1
Genatlas (Paris)NCAM1
WikiGenes4684
SOURCE (Princeton)NCAM1
Genetics Home Reference (NIH)NCAM1
Genomic and cartography
GoldenPath hg19 (UCSC)NCAM1  -     chr11:112831969-113149158 +  11q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NCAM1  -     11q23.2   [Description]    (hg38-Dec_2013)
EnsemblNCAM1 - 11q23.2 [CytoView hg19]  NCAM1 - 11q23.2 [CytoView hg38]
Mapping of homologs : NCBINCAM1 [Mapview hg19]  NCAM1 [Mapview hg38]
OMIM116930   
Gene and transcription
Genbank (Entrez)AA029449 AB209443 AF005070 AK054570 AK054929
RefSeq transcript (Entrez)NM_000615 NM_001076682 NM_001242607 NM_001242608 NM_181351
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_032036 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)NCAM1
Cluster EST : UnigeneHs.733031 [ NCBI ]
CGAP (NCI)Hs.733031
Alternative Splicing GalleryENSG00000149294
Gene ExpressionNCAM1 [ NCBI-GEO ]   NCAM1 [ EBI - ARRAY_EXPRESS ]   NCAM1 [ SEEK ]   NCAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)NCAM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4684
GTEX Portal (Tissue expression)NCAM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13591   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13591  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13591
Splice isoforms : SwissVarP13591
PhosPhoSitePlusP13591
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub2    Ncam1    Neural_cell_adh   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam00041    pfam07679   
Domain families : Smart (EMBL)FN3 (SM00060)  IGc2 (SM00408)  
Conserved Domain (NCBI)NCAM1
DMDM Disease mutations4684
Blocks (Seattle)NCAM1
PDB (SRS)2E3V    2HAZ    2VKW    2VKX    3MTR   
PDB (PDBSum)2E3V    2HAZ    2VKW    2VKX    3MTR   
PDB (IMB)2E3V    2HAZ    2VKW    2VKX    3MTR   
PDB (RSDB)2E3V    2HAZ    2VKW    2VKX    3MTR   
Structural Biology KnowledgeBase2E3V    2HAZ    2VKW    2VKX    3MTR   
SCOP (Structural Classification of Proteins)2E3V    2HAZ    2VKW    2VKX    3MTR   
CATH (Classification of proteins structures)2E3V    2HAZ    2VKW    2VKX    3MTR   
SuperfamilyP13591
Human Protein AtlasENSG00000149294
Peptide AtlasP13591
HPRD00301
IPIIPI00435020   IPI00795918   IPI00220737   IPI00900302   IPI00411478   IPI00900340   IPI00908926   IPI00385035   
Protein Interaction databases
DIP (DOE-UCLA)P13591
IntAct (EBI)P13591
FunCoupENSG00000149294
BioGRIDNCAM1
STRING (EMBL)NCAM1
ZODIACNCAM1
Ontologies - Pathways
QuickGOP13591
Ontology : AmiGOGolgi membrane  MAPK cascade  virus receptor activity  Ras guanyl-nucleotide exchange factor activity  cytoplasm  plasma membrane  plasma membrane  cell adhesion  axon guidance  external side of plasma membrane  cell surface  membrane  integral component of membrane  anchored component of membrane  identical protein binding  positive regulation of GTPase activity  viral entry into host cell  regulation of synaptic plasticity  interferon-gamma-mediated signaling pathway  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  MAPK cascade  virus receptor activity  Ras guanyl-nucleotide exchange factor activity  cytoplasm  plasma membrane  plasma membrane  cell adhesion  axon guidance  external side of plasma membrane  cell surface  membrane  integral component of membrane  anchored component of membrane  identical protein binding  positive regulation of GTPase activity  viral entry into host cell  regulation of synaptic plasticity  interferon-gamma-mediated signaling pathway  extracellular exosome  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGCell adhesion molecules (CAMs)    Prion diseases   
NDEx NetworkNCAM1
Atlas of Cancer Signalling NetworkNCAM1
Wikipedia pathwaysNCAM1
Orthology - Evolution
OrthoDB4684
GeneTree (enSembl)ENSG00000149294
Phylogenetic Trees/Animal Genes : TreeFamNCAM1
HOVERGENP13591
HOGENOMP13591
Homologs : HomoloGeneNCAM1
Homology/Alignments : Family Browser (UCSC)NCAM1
Gene fusions - Rearrangements
Fusion : MitelmanC2CD3/NCAM1 [11q13.4/11q23.2]  [t(11;11)(q13;q23)]  
Fusion: TCGAC2CD3 11q13.4 NCAM1 11q23.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNCAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCAM1
dbVarNCAM1
ClinVarNCAM1
1000_GenomesNCAM1 
Exome Variant ServerNCAM1
ExAC (Exome Aggregation Consortium)NCAM1 (select the gene name)
Genetic variants : HAPMAP4684
Genomic Variants (DGV)NCAM1 [DGVbeta]
DECIPHER (Syndromes)11:112831969-113149158  ENSG00000149294
CONAN: Copy Number AnalysisNCAM1 
Mutations
ICGC Data PortalNCAM1 
TCGA Data PortalNCAM1 
Broad Tumor PortalNCAM1
OASIS PortalNCAM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNCAM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNCAM1
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 NCAM1
DgiDB (Drug Gene Interaction Database)NCAM1
DoCM (Curated mutations)NCAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NCAM1 (select a term)
intoGenNCAM1
Cancer3DNCAM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116930   
Orphanet
MedgenNCAM1
Genetic Testing Registry NCAM1
NextProtP13591 [Medical]
TSGene4684
GENETestsNCAM1
Huge Navigator NCAM1 [HugePedia]
snp3D : Map Gene to Disease4684
BioCentury BCIQNCAM1
ClinGenNCAM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4684
Chemical/Pharm GKB GenePA31459
Clinical trialNCAM1
Miscellaneous
canSAR (ICR)NCAM1 (select the gene name)
Probes
Litterature
PubMed253 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNCAM1
EVEXNCAM1
GoPubMedNCAM1
iHOPNCAM1
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 : Thu Mar 30 15:11:48 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.