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DSCAML1 (DS cell adhesion molecule like 1)

Identity

Alias (NCBI)DSCAM2
HGNC (Hugo) DSCAML1
HGNC Alias symbKIAA1132
HGNC Previous nameDown syndrome cell adhesion molecule like 1
LocusID (NCBI) 57453
Atlas_Id 52995
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 117427772 and ends at 117797216 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)
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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  ins(4;11)(q21;q23q23) AFF1/DSCAML1
ins(4;11)(q21;q23q23) DSCAML1/KMT2A

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;11)(q22;q23) DSCAML1/KDELC2
DSCAML1/MPZL2 (11q23)

External links

Nomenclature
HGNC (Hugo)DSCAML1   14656
Cards
Entrez_Gene (NCBI)DSCAML1    DS cell adhesion molecule like 1
AliasesDSCAM2
GeneCards (Weizmann)DSCAML1
Ensembl hg19 (Hinxton)ENSG00000177103 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177103 [Gene_View]  ENSG00000177103 [Sequence]  chr11:117427772-117797216 [Contig_View]  DSCAML1 [Vega]
ICGC DataPortalENSG00000177103
TCGA cBioPortalDSCAML1
AceView (NCBI)DSCAML1
Genatlas (Paris)DSCAML1
SOURCE (Princeton)DSCAML1
Genetics Home Reference (NIH)DSCAML1
Genomic and cartography
GoldenPath hg38 (UCSC)DSCAML1  -     chr11:117427772-117797216 -  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSCAML1  -     11q23.3   [Description]    (hg19-Feb_2009)
GoldenPathDSCAML1 - 11q23.3 [CytoView hg19]  DSCAML1 - 11q23.3 [CytoView hg38]
ImmunoBaseENSG00000177103
genome Data Viewer NCBIDSCAML1 [Mapview hg19]  
OMIM611782   
Gene and transcription
Genbank (Entrez)AB032958 AF304304 AF304305 AF334384 AF491813
RefSeq transcript (Entrez)NM_001367904 NM_001367905 NM_020693
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSCAML1
Alternative Splicing GalleryENSG00000177103
Gene ExpressionDSCAML1 [ NCBI-GEO ]   DSCAML1 [ EBI - ARRAY_EXPRESS ]   DSCAML1 [ SEEK ]   DSCAML1 [ MEM ]
Gene Expression Viewer (FireBrowse)DSCAML1 [ Firebrowse - Broad ]
GenevisibleExpression of DSCAML1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57453
GTEX Portal (Tissue expression)DSCAML1
Human Protein AtlasENSG00000177103-DSCAML1 [pathology]   [cell]   [tissue]
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    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)DSCAML1
Blocks (Seattle)DSCAML1
PDB (RSDB)1VA9   
PDB Europe1VA9   
PDB (PDBSum)1VA9   
PDB (IMB)1VA9   
Structural Biology KnowledgeBase1VA9   
SCOP (Structural Classification of Proteins)1VA9   
CATH (Classification of proteins structures)1VA9   
SuperfamilyQ8TD84
Human Protein Atlas [tissue]ENSG00000177103-DSCAML1 [tissue]
Peptide AtlasQ8TD84
HPRD10921
IPIIPI00792205   IPI00154755   IPI00978116   IPI00979079   
Protein Interaction databases
DIP (DOE-UCLA)Q8TD84
IntAct (EBI)Q8TD84
BioGRIDDSCAML1
STRING (EMBL)DSCAML1
ZODIACDSCAML1
Ontologies - Pathways
QuickGOQ8TD84
Ontology : AmiGOcell fate determination  extracellular space  plasma membrane  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  homophilic cell adhesion via plasma membrane adhesion molecules  axonogenesis  axon guidance  central nervous system development  brain development  dorsal/ventral pattern formation  cell surface  integral component of membrane  axon  protein homodimerization activity  synapse  embryonic skeletal system morphogenesis  dendrite self-avoidance  cell-cell adhesion mediator activity  
Ontology : EGO-EBIcell fate determination  extracellular space  plasma membrane  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  homophilic cell adhesion via plasma membrane adhesion molecules  axonogenesis  axon guidance  central nervous system development  brain development  dorsal/ventral pattern formation  cell surface  integral component of membrane  axon  protein homodimerization activity  synapse  embryonic skeletal system morphogenesis  dendrite self-avoidance  cell-cell adhesion mediator activity  
NDEx NetworkDSCAML1
Atlas of Cancer Signalling NetworkDSCAML1
Wikipedia pathwaysDSCAML1
Orthology - Evolution
OrthoDB57453
GeneTree (enSembl)ENSG00000177103
Phylogenetic Trees/Animal Genes : TreeFamDSCAML1
HOGENOMQ8TD84
Homologs : HomoloGeneDSCAML1
Homology/Alignments : Family Browser (UCSC)DSCAML1
Gene fusions - Rearrangements
Fusion : MitelmanAFF1/DSCAML1 [4q21.3/11q23.3]  
Fusion : MitelmanDSCAML1/KDELC2 [11q23.3/11q22.3]  
Fusion : MitelmanDSCAML1/MPZL2 [11q23.3/11q23.3]  
Fusion PortalDSCAML1 11q23.3 KDELC2 11q22.3 LGG
Fusion PortalDSCAML1 11q23.3 MPZL2 11q23.3 LGG
Fusion : QuiverDSCAML1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSCAML1 [hg38]
dbVarDSCAML1
ClinVarDSCAML1
MonarchDSCAML1
1000_GenomesDSCAML1 
Exome Variant ServerDSCAML1
GNOMAD BrowserENSG00000177103
Varsome BrowserDSCAML1
Genomic Variants (DGV)DSCAML1 [DGVbeta]
DECIPHERDSCAML1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DDSCAML1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611782   
Orphanet
DisGeNETDSCAML1
MedgenDSCAML1
Genetic Testing Registry DSCAML1
NextProtQ8TD84 [Medical]
GENETestsDSCAML1
Target ValidationDSCAML1
Huge Navigator DSCAML1 [HugePedia]
ClinGenDSCAML1
Clinical trials, drugs, therapy
MyCancerGenomeDSCAML1
Protein Interactions : CTD
Pharm GKB GenePA38384
PharosQ8TD84
Clinical trialDSCAML1
Miscellaneous
canSAR (ICR)DSCAML1 (select the gene name)
HarmonizomeDSCAML1
DataMed IndexDSCAML1
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDSCAML1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:13:34 CET 2021
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