Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CSMD3 (CUB and Sushi multiple domains 3)

Identity

Other alias-
HGNC (Hugo) CSMD3
LocusID (NCBI) 114788
Atlas_Id 51059
Location 8q23.3  [Link to chromosome band 8q23]
Location_base_pair Starts at 112222930 and ends at 113377153 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)
CSMD3 (8q23.3) / ANGPT1 (8q23.1)CSMD3 (8q23.3) / MYC (8q24.21)CSMD3 (8q23.3) / RIMS2 (8q22.3)
OXR1 (8q23.1) / CSMD3 (8q23.3)CSMD3 8q23.3 / RIMS2 8q22.3OXR1 8q23.1 / CSMD3 8q23.3

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Small Cell Carcinoma
Lung: Translocations in Squamous Cell Carcinoma
t(8;8)(q22;q23) CSMD3/RIMS2
t(8;8)(q23;q23) OXR1/CSMD3
t(8;8)(q23;q23) CSMD3/ANGPT1
t(8;8)(q23;q24) CSMD3/MYC

External links

Nomenclature
HGNC (Hugo)CSMD3   19291
Cards
Entrez_Gene (NCBI)CSMD3  114788  CUB and Sushi multiple domains 3
Aliases
GeneCards (Weizmann)CSMD3
Ensembl hg19 (Hinxton)ENSG00000164796 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164796 [Gene_View]  chr8:112222930-113377153 [Contig_View]  CSMD3 [Vega]
ICGC DataPortalENSG00000164796
TCGA cBioPortalCSMD3
AceView (NCBI)CSMD3
Genatlas (Paris)CSMD3
WikiGenes114788
SOURCE (Princeton)CSMD3
Genetics Home Reference (NIH)CSMD3
Genomic and cartography
GoldenPath hg38 (UCSC)CSMD3  -     chr8:112222930-113377153 -  8q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSMD3  -     8q23.3   [Description]    (hg19-Feb_2009)
EnsemblCSMD3 - 8q23.3 [CytoView hg19]  CSMD3 - 8q23.3 [CytoView hg38]
Mapping of homologs : NCBICSMD3 [Mapview hg19]  CSMD3 [Mapview hg38]
OMIM608399   
Gene and transcription
Genbank (Entrez)AB067481 AB114604 AB114605 AK095111 AK126252
RefSeq transcript (Entrez)NM_052900 NM_198123 NM_198124
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSMD3
Cluster EST : UnigeneHs.91381 [ NCBI ]
CGAP (NCI)Hs.91381
Alternative Splicing GalleryENSG00000164796
Gene ExpressionCSMD3 [ NCBI-GEO ]   CSMD3 [ EBI - ARRAY_EXPRESS ]   CSMD3 [ SEEK ]   CSMD3 [ MEM ]
Gene Expression Viewer (FireBrowse)CSMD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114788
GTEX Portal (Tissue expression)CSMD3
Human Protein AtlasENSG00000164796-CSMD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z407   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z407  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z407
Splice isoforms : SwissVarQ7Z407
PhosPhoSitePlusQ7Z407
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    SUSHI (PS50923)   
Domains : Interpro (EBI)CUB_dom    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00431    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  
Conserved Domain (NCBI)CSMD3
DMDM Disease mutations114788
Blocks (Seattle)CSMD3
SuperfamilyQ7Z407
Human Protein Atlas [tissue]ENSG00000164796-CSMD3 [tissue]
Peptide AtlasQ7Z407
HPRD16329
IPIIPI00377041   IPI00377042   IPI00940523   IPI00394762   IPI00394763   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z407
IntAct (EBI)Q7Z407
FunCoupENSG00000164796
BioGRIDCSMD3
STRING (EMBL)CSMD3
ZODIACCSMD3
Ontologies - Pathways
QuickGOQ7Z407
Ontology : AmiGOplasma membrane  integral component of membrane  regulation of dendrite development  
Ontology : EGO-EBIplasma membrane  integral component of membrane  regulation of dendrite development  
NDEx NetworkCSMD3
Atlas of Cancer Signalling NetworkCSMD3
Wikipedia pathwaysCSMD3
Orthology - Evolution
OrthoDB114788
GeneTree (enSembl)ENSG00000164796
Phylogenetic Trees/Animal Genes : TreeFamCSMD3
HOVERGENQ7Z407
HOGENOMQ7Z407
Homologs : HomoloGeneCSMD3
Homology/Alignments : Family Browser (UCSC)CSMD3
Gene fusions - Rearrangements
Fusion : MitelmanCSMD3/ANGPT1 [8q23.3/8q23.1]  
Fusion : MitelmanCSMD3/MYC [8q23.3/8q24.21]  [t(8;8)(q23;q24)]  
Fusion : MitelmanCSMD3/RIMS2 [8q23.3/8q22.3]  [t(8;8)(q22;q23)]  
Fusion : MitelmanOXR1/CSMD3 [8q23.1/8q23.3]  [t(8;8)(q23;q23)]  
Fusion: TCGA_MDACCCSMD3 8q23.3 RIMS2 8q22.3 BRCA
Fusion: TCGA_MDACCOXR1 8q23.1 CSMD3 8q23.3 BRCA
Fusion PortalCSMD3 8q23.3 RIMS2 8q22.3 BRCA
Fusion PortalOXR1 8q23.1 CSMD3 8q23.3 BRCA
Fusion : QuiverCSMD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSMD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSMD3
dbVarCSMD3
ClinVarCSMD3
1000_GenomesCSMD3 
Exome Variant ServerCSMD3
ExAC (Exome Aggregation Consortium)ENSG00000164796
GNOMAD BrowserENSG00000164796
Genetic variants : HAPMAP114788
Genomic Variants (DGV)CSMD3 [DGVbeta]
DECIPHERCSMD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSMD3 
Mutations
ICGC Data PortalCSMD3 
TCGA Data PortalCSMD3 
Broad Tumor PortalCSMD3
OASIS PortalCSMD3 [ Somatic mutations - Copy number]
Cancer Gene: CensusCSMD3 
Somatic Mutations in Cancer : COSMICCSMD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSMD3
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 CSMD3
DgiDB (Drug Gene Interaction Database)CSMD3
DoCM (Curated mutations)CSMD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSMD3 (select a term)
intoGenCSMD3
Cancer3DCSMD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608399   
Orphanet
DisGeNETCSMD3
MedgenCSMD3
Genetic Testing Registry CSMD3
NextProtQ7Z407 [Medical]
TSGene114788
GENETestsCSMD3
Target ValidationCSMD3
Huge Navigator CSMD3 [HugePedia]
snp3D : Map Gene to Disease114788
BioCentury BCIQCSMD3
ClinGenCSMD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD114788
Chemical/Pharm GKB GenePA134926063
Clinical trialCSMD3
Miscellaneous
canSAR (ICR)CSMD3 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSMD3
EVEXCSMD3
GoPubMedCSMD3
iHOPCSMD3
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 : Wed Feb 28 13:08:02 CET 2018
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