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DSCAM (DS cell adhesion molecule)

Identity

Alias (NCBI)CHD2
CHD2-42
CHD2-52
HGNC (Hugo) DSCAM
HGNC Alias symbCHD2-42
CHD2-52
HGNC Previous nameDown syndrome cell adhesion molecule
LocusID (NCBI) 1826
Atlas_Id 62647
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 40010999 and ends at 40847139 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)
DDX60L (4q32.3) / DSCAM (21q22.2)DSCAM (21q22.2) / DCAF7 (17q23.3)DSCAM (21q22.2) / DSCAM (21q22.2)
DSCAM (21q22.2) / EXT1 (8q24.11)DSCAM (21q22.2) / TMOD1 (9q22.33)PLAC1 (Xq26.3) / DSCAM (21q22.2)
PLAC1 DSCAMDDX60L DSCAM

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) [ 2 ]
  t(21;21)(q22;q22) RUNX1/DSCAM
t(21;21)(q22;q22) RUNX1/DSCAM



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(4;21)(q32;q22) DDX60L/DSCAM
t(X;21)(q26;q22) PLAC1/DSCAM


External links

Nomenclature
HGNC (Hugo)DSCAM   3039
Cards
Entrez_Gene (NCBI)DSCAM  1826  DS cell adhesion molecule
AliasesCHD2; CHD2-42; CHD2-52
GeneCards (Weizmann)DSCAM
Ensembl hg19 (Hinxton)ENSG00000171587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171587 [Gene_View]  ENSG00000171587 [Sequence]  chr21:40010999-40847139 [Contig_View]  DSCAM [Vega]
ICGC DataPortalENSG00000171587
TCGA cBioPortalDSCAM
AceView (NCBI)DSCAM
Genatlas (Paris)DSCAM
WikiGenes1826
SOURCE (Princeton)DSCAM
Genetics Home Reference (NIH)DSCAM
Genomic and cartography
GoldenPath hg38 (UCSC)DSCAM  -     chr21:40010999-40847139 -  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSCAM  -     21q22.2   [Description]    (hg19-Feb_2009)
GoldenPathDSCAM - 21q22.2 [CytoView hg19]  DSCAM - 21q22.2 [CytoView hg38]
ImmunoBaseENSG00000171587
genome Data Viewer NCBIDSCAM [Mapview hg19]  
OMIM602523   
Gene and transcription
Genbank (Entrez)AB209136 AF023449 AF023450 AF086100 AF217525
RefSeq transcript (Entrez)NM_001271534 NM_001389
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSCAM
Alternative Splicing GalleryENSG00000171587
Gene ExpressionDSCAM [ NCBI-GEO ]   DSCAM [ EBI - ARRAY_EXPRESS ]   DSCAM [ SEEK ]   DSCAM [ MEM ]
Gene Expression Viewer (FireBrowse)DSCAM [ Firebrowse - Broad ]
GenevisibleExpression of DSCAM in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1826
GTEX Portal (Tissue expression)DSCAM
Human Protein AtlasENSG00000171587-DSCAM [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60469   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60469  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60469
Splice isoforms : SwissVarO60469
PhosPhoSitePlusO60469
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)DSCAM_chordates    FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Ig_V-set   
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)  IGv (SM00406)  
Conserved Domain (NCBI)DSCAM
DMDM Disease mutations1826
Blocks (Seattle)DSCAM
SuperfamilyO60469
Human Protein Atlas [tissue]ENSG00000171587-DSCAM [tissue]
Peptide AtlasO60469
HPRD03953
IPIIPI00029700   IPI00219339   IPI00791412   
Protein Interaction databases
DIP (DOE-UCLA)O60469
IntAct (EBI)O60469
FunCoupENSG00000171587
BioGRIDDSCAM
STRING (EMBL)DSCAM
ZODIACDSCAM
Ontologies - Pathways
QuickGOO60469
Ontology : AmiGOprotein binding  extracellular region  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  homophilic cell adhesion via plasma membrane adhesion molecules  negative regulation of cell adhesion  nervous system development  axon guidance  axon guidance  synapse assembly  locomotory behavior  retina layer formation  membrane  cell junction  axon  axon  dendrite  growth cone  netrin-activated signaling pathway  positive regulation of phosphorylation  neuronal cell body  synapse  dendrite morphogenesis  positive regulation of axon extension involved in axon guidance  post-embryonic retina morphogenesis in camera-type eye  camera-type eye photoreceptor cell differentiation  dendrite self-avoidance  dendrite self-avoidance  cell-cell adhesion mediator activity  protein tyrosine kinase binding  netrin receptor binding  
Ontology : EGO-EBIprotein binding  extracellular region  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  homophilic cell adhesion via plasma membrane adhesion molecules  negative regulation of cell adhesion  nervous system development  axon guidance  axon guidance  synapse assembly  locomotory behavior  retina layer formation  membrane  cell junction  axon  axon  dendrite  growth cone  netrin-activated signaling pathway  positive regulation of phosphorylation  neuronal cell body  synapse  dendrite morphogenesis  positive regulation of axon extension involved in axon guidance  post-embryonic retina morphogenesis in camera-type eye  camera-type eye photoreceptor cell differentiation  dendrite self-avoidance  dendrite self-avoidance  cell-cell adhesion mediator activity  protein tyrosine kinase binding  netrin receptor binding  
NDEx NetworkDSCAM
Atlas of Cancer Signalling NetworkDSCAM
Wikipedia pathwaysDSCAM
Orthology - Evolution
OrthoDB1826
GeneTree (enSembl)ENSG00000171587
Phylogenetic Trees/Animal Genes : TreeFamDSCAM
HOGENOMO60469
Homologs : HomoloGeneDSCAM
Homology/Alignments : Family Browser (UCSC)DSCAM
Gene fusions - Rearrangements
Fusion PortalPLAC1 DSCAM
Fusion PortalDDX60L DSCAM
Fusion : QuiverDSCAM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSCAM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSCAM
dbVarDSCAM
ClinVarDSCAM
1000_GenomesDSCAM 
Exome Variant ServerDSCAM
GNOMAD BrowserENSG00000171587
Varsome BrowserDSCAM
Genetic variants : HAPMAP1826
Genomic Variants (DGV)DSCAM [DGVbeta]
DECIPHERDSCAM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSCAM 
Mutations
ICGC Data PortalDSCAM 
TCGA Data PortalDSCAM 
Broad Tumor PortalDSCAM
OASIS PortalDSCAM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSCAM  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDSCAM
Mutations and Diseases : HGMDDSCAM
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 DSCAM
DgiDB (Drug Gene Interaction Database)DSCAM
DoCM (Curated mutations)DSCAM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSCAM (select a term)
intoGenDSCAM
Cancer3DDSCAM(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602523   
Orphanet
DisGeNETDSCAM
MedgenDSCAM
Genetic Testing Registry DSCAM
NextProtO60469 [Medical]
TSGene1826
GENETestsDSCAM
Target ValidationDSCAM
Huge Navigator DSCAM [HugePedia]
snp3D : Map Gene to Disease1826
BioCentury BCIQDSCAM
ClinGenDSCAM
Clinical trials, drugs, therapy
Protein Interactions : CTD1826
Pharm GKB GenePA27491
Clinical trialDSCAM
Miscellaneous
canSAR (ICR)DSCAM (select the gene name)
HarmonizomeDSCAM
DataMed IndexDSCAM
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSCAM
EVEXDSCAM
GoPubMedDSCAM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:10:21 CEST 2020

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