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DSCAML1 (Down syndrome cell adhesion molecule like 1)

Identity

Alias_namesDown syndrome cell adhesion molecule like 1
Alias_symbol (synonym)KIAA1132
Other aliasDSCAM2
HGNC (Hugo) DSCAML1
LocusID (NCBI) 57453
Atlas_Id 52995
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117298488 and ends at 117667976 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AFF1 (4q21.3) / DSCAML1 (11q23.3)DSCAML1 (11q23.3) / KDELC2 (11q22.3)DSCAML1 (11q23.3) / KMT2A (11q23.3)
DSCAML1 (11q23.3) / MPZL2 (11q23.3)DSCAML1 (11q23.3) / SLC20A2 (8p11.21)DSCAML1 (11q23.3) / THTPA (14q11.2)
DSCAML1 (11q23.3) / UBR4 (1p36.13)GUSBP11 (22q11.23) / DSCAML1 (11q23.3)DSCAML1 11q23.3 / KDELC2 11q22.3
DSCAML1 11q23.3 / MPZL2 11q23.3

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)DSCAML1   14656
Cards
Entrez_Gene (NCBI)DSCAML1  57453  Down syndrome cell adhesion molecule like 1
AliasesDSCAM2
GeneCards (Weizmann)DSCAML1
Ensembl hg19 (Hinxton)ENSG00000177103 [Gene_View]  chr11:117298488-117667976 [Contig_View]  DSCAML1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000177103 [Gene_View]  chr11:117298488-117667976 [Contig_View]  DSCAML1 [Vega]
ICGC DataPortalENSG00000177103
TCGA cBioPortalDSCAML1
AceView (NCBI)DSCAML1
Genatlas (Paris)DSCAML1
WikiGenes57453
SOURCE (Princeton)DSCAML1
Genetics Home Reference (NIH)DSCAML1
Genomic and cartography
GoldenPath hg19 (UCSC)DSCAML1  -     chr11:117298488-117667976 -  11q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DSCAML1  -     11q23.3   [Description]    (hg38-Dec_2013)
EnsemblDSCAML1 - 11q23.3 [CytoView hg19]  DSCAML1 - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIDSCAML1 [Mapview hg19]  DSCAML1 [Mapview hg38]
OMIM611782   
Gene and transcription
Genbank (Entrez)AB032958 AF304304 AF304305 AF334384 AF491813
RefSeq transcript (Entrez)NM_020693
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)DSCAML1
Cluster EST : UnigeneHs.659513 [ NCBI ]
CGAP (NCI)Hs.659513
Alternative Splicing GalleryENSG00000177103
Gene ExpressionDSCAML1 [ NCBI-GEO ]   DSCAML1 [ EBI - ARRAY_EXPRESS ]   DSCAML1 [ SEEK ]   DSCAML1 [ MEM ]
Gene Expression Viewer (FireBrowse)DSCAML1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57453
GTEX Portal (Tissue expression)DSCAML1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TD84   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TD84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TD84
Splice isoforms : SwissVarQ8TD84
PhosPhoSitePlusQ8TD84
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)DSCAML1    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Immunoglobulin   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    ig (PF00047)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam00047   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)DSCAML1
DMDM Disease mutations57453
Blocks (Seattle)DSCAML1
PDB (SRS)1VA9   
PDB (PDBSum)1VA9   
PDB (IMB)1VA9   
PDB (RSDB)1VA9   
Structural Biology KnowledgeBase1VA9   
SCOP (Structural Classification of Proteins)1VA9   
CATH (Classification of proteins structures)1VA9   
SuperfamilyQ8TD84
Human Protein AtlasENSG00000177103
Peptide AtlasQ8TD84
HPRD10921
IPIIPI00792205   IPI00154755   IPI00978116   IPI00979079   
Protein Interaction databases
DIP (DOE-UCLA)Q8TD84
IntAct (EBI)Q8TD84
FunCoupENSG00000177103
BioGRIDDSCAML1
STRING (EMBL)DSCAML1
ZODIACDSCAML1
Ontologies - Pathways
QuickGOQ8TD84
Ontology : AmiGOcell fate determination  extracellular space  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  axonogenesis  central nervous system development  brain development  dorsal/ventral pattern formation  cell surface  integral component of membrane  cell junction  protein homodimerization activity  synapse  embryonic skeletal system morphogenesis  
Ontology : EGO-EBIcell fate determination  extracellular space  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  axonogenesis  central nervous system development  brain development  dorsal/ventral pattern formation  cell surface  integral component of membrane  cell junction  protein homodimerization activity  synapse  embryonic skeletal system morphogenesis  
NDEx NetworkDSCAML1
Atlas of Cancer Signalling NetworkDSCAML1
Wikipedia pathwaysDSCAML1
Orthology - Evolution
OrthoDB57453
GeneTree (enSembl)ENSG00000177103
Phylogenetic Trees/Animal Genes : TreeFamDSCAML1
HOVERGENQ8TD84
HOGENOMQ8TD84
Homologs : HomoloGeneDSCAML1
Homology/Alignments : Family Browser (UCSC)DSCAML1
Gene fusions - Rearrangements
Fusion : MitelmanAFF1/DSCAML1 [4q21.3/11q23.3]  [ins(4;11)(q21;q23q23)]  
Fusion : MitelmanDSCAML1/KDELC2 [11q23.3/11q22.3]  [t(11;11)(q22;q23)]  
Fusion : MitelmanDSCAML1/MPZL2 [11q23.3/11q23.3]  [t(11;11)(q23;q23)]  
Fusion: TCGADSCAML1 11q23.3 KDELC2 11q22.3 LGG
Fusion: TCGADSCAML1 11q23.3 MPZL2 11q23.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSCAML1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSCAML1
dbVarDSCAML1
ClinVarDSCAML1
1000_GenomesDSCAML1 
Exome Variant ServerDSCAML1
ExAC (Exome Aggregation Consortium)DSCAML1 (select the gene name)
Genetic variants : HAPMAP57453
Genomic Variants (DGV)DSCAML1 [DGVbeta]
DECIPHER (Syndromes)11:117298488-117667976  ENSG00000177103
CONAN: Copy Number AnalysisDSCAML1 
Mutations
ICGC Data PortalDSCAML1 
TCGA Data PortalDSCAML1 
Broad Tumor PortalDSCAML1
OASIS PortalDSCAML1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSCAML1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSCAML1
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 DSCAML1
DgiDB (Drug Gene Interaction Database)DSCAML1
DoCM (Curated mutations)DSCAML1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSCAML1 (select a term)
intoGenDSCAML1
Cancer3DDSCAML1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611782   
Orphanet
MedgenDSCAML1
Genetic Testing Registry DSCAML1
NextProtQ8TD84 [Medical]
TSGene57453
GENETestsDSCAML1
Huge Navigator DSCAML1 [HugePedia]
snp3D : Map Gene to Disease57453
BioCentury BCIQDSCAML1
ClinGenDSCAML1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57453
Chemical/Pharm GKB GenePA38384
Clinical trialDSCAML1
Miscellaneous
canSAR (ICR)DSCAML1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSCAML1
EVEXDSCAML1
GoPubMedDSCAML1
iHOPDSCAML1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:59:24 CEST 2017

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