Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CD63 (CD63 molecule)

Identity

Alias_namesMLA1
CD63 antigen (melanoma 1 antigen)
Alias_symbol (synonym)ME491
TSPAN30
Other aliasLAMP-3
OMA81H
HGNC (Hugo) CD63
LocusID (NCBI) 967
Atlas_Id 986
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 55725443 and ends at 55729138 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)
CD63 (12q13.2) / AARS (16q22.1)CD63 (12q13.2) / COLGALT1 (19p13.11)CD63 (12q13.2) / HCFC1R1 (16p13.3)
CD63 (12q13.2) / LOC339166 (17p13.2)CD63 (12q13.2) / PUM1 (1p35.2)CD63 (12q13.2) / RPS5 (19q13.43)
CD63 (12q13.2) / SND1 (7q32.1)CD63 (12q13.2) / VARS2 (6p21.33)CD63 (12q13.2) / VPS35 (16q11.2)
CD63 (12q13.2) / ZNF569 (19q13.12)DPM1 (20q13.13) / CD63 (12q13.2)HIF1A (14q23.2) / CD63 (12q13.2)
TMSB10 (2p11.2) / CD63 (12q13.2)CD63 12q13.2 / AARS 16q22.1TMSB10 2p11.2 / CD63 12q13.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;12)(p11;q13) TMSB10/CD63
t(12;16)(q13;q22) CD63/AARS
t(12;20)(q13;q13) DPM1/CD63

External links

Nomenclature
HGNC (Hugo)CD63   1692
Cards
Entrez_Gene (NCBI)CD63  967  CD63 molecule
AliasesLAMP-3; ME491; MLA1; OMA81H; 
TSPAN30
GeneCards (Weizmann)CD63
Ensembl hg19 (Hinxton)ENSG00000135404 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135404 [Gene_View]  ENSG00000135404 [Sequence]  chr12:55725443-55729138 [Contig_View]  CD63 [Vega]
ICGC DataPortalENSG00000135404
TCGA cBioPortalCD63
AceView (NCBI)CD63
Genatlas (Paris)CD63
WikiGenes967
SOURCE (Princeton)CD63
Genetics Home Reference (NIH)CD63
Genomic and cartography
GoldenPath hg38 (UCSC)CD63  -     chr12:55725443-55729138 -  12q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CD63  -     12q13.2   [Description]    (hg19-Feb_2009)
CD63 - 12q13.2 [CytoView hg19]  CD63 - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBICD63 [Mapview hg19]  CD63 [Mapview hg38]
OMIM155740   
Gene and transcription
Genbank (Entrez)AA583189 AF508304 AK311893 AL582859 AV650763
RefSeq transcript (Entrez)NM_001040034 NM_001257389 NM_001257390 NM_001257391 NM_001257392 NM_001257400 NM_001257401 NM_001267698 NM_001780
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CD63
Cluster EST : UnigeneHs.445570 [ NCBI ]
CGAP (NCI)Hs.445570
Alternative Splicing GalleryENSG00000135404
Gene ExpressionCD63 [ NCBI-GEO ]   CD63 [ EBI - ARRAY_EXPRESS ]   CD63 [ SEEK ]   CD63 [ MEM ]
Gene Expression Viewer (FireBrowse)CD63 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)967
GTEX Portal (Tissue expression)CD63
Human Protein AtlasENSG00000135404-CD63 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08962   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08962  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08962
Splice isoforms : SwissVarP08962
PhosPhoSitePlusP08962
Domaine pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (EBI)Tetraspanin    Tetraspanin/Peripherin    Tetraspanin_CS    Tetraspanin_EC2_sf   
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
Conserved Domain (NCBI)CD63
DMDM Disease mutations967
Blocks (Seattle)CD63
SuperfamilyP08962
Human Protein Atlas [tissue]ENSG00000135404-CD63 [tissue]
Peptide AtlasP08962
HPRD01121
IPIIPI00215998   IPI01022601   IPI00384548   IPI01020732   IPI01020841   IPI01022556   IPI01021114   IPI01021015   IPI00749070   
Protein Interaction databases
DIP (DOE-UCLA)P08962
IntAct (EBI)P08962
FunCoupENSG00000135404
BioGRIDCD63
STRING (EMBL)CD63
ZODIACCD63
Ontologies - Pathways
QuickGOP08962
Ontology : AmiGOpositive regulation of receptor internalization  platelet degranulation  protein binding  extracellular space  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  cell surface receptor signaling pathway  cell surface  endosome membrane  protein transport  cell migration  cell migration  platelet dense granule membrane  intrinsic component of plasma membrane  late endosome membrane  endosome lumen  multivesicular body membrane  multivesicular body membrane  cellular protein localization  azurophil granule membrane  endosome to melanosome transport  melanosome  neutrophil degranulation  positive regulation of endocytosis  pigment granule maturation  extracellular exosome  extracellular exosome  multivesicular body, internal vesicle  regulation of vascular endothelial growth factor signaling pathway  regulation of potassium ion transmembrane transport  positive regulation of integrin-mediated signaling pathway  
Ontology : EGO-EBIpositive regulation of receptor internalization  platelet degranulation  protein binding  extracellular space  lysosomal membrane  lysosomal membrane  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  cell surface receptor signaling pathway  cell surface  endosome membrane  protein transport  cell migration  cell migration  platelet dense granule membrane  intrinsic component of plasma membrane  late endosome membrane  endosome lumen  multivesicular body membrane  multivesicular body membrane  cellular protein localization  azurophil granule membrane  endosome to melanosome transport  melanosome  neutrophil degranulation  positive regulation of endocytosis  pigment granule maturation  extracellular exosome  extracellular exosome  multivesicular body, internal vesicle  regulation of vascular endothelial growth factor signaling pathway  regulation of potassium ion transmembrane transport  positive regulation of integrin-mediated signaling pathway  
Pathways : KEGGLysosome    Proteoglycans in cancer   
NDEx NetworkCD63
Atlas of Cancer Signalling NetworkCD63
Wikipedia pathwaysCD63
Orthology - Evolution
OrthoDB967
GeneTree (enSembl)ENSG00000135404
Phylogenetic Trees/Animal Genes : TreeFamCD63
HOGENOMP08962
Homologs : HomoloGeneCD63
Homology/Alignments : Family Browser (UCSC)CD63
Gene fusions - Rearrangements
Fusion : MitelmanCD63/AARS [12q13.2/16q22.1]  
Fusion : MitelmanTMSB10/CD63 [2p11.2/12q13.2]  [t(2;12)(p11;q13)]  
Fusion PortalCD63 12q13.2 AARS 16q22.1 PRAD
Fusion PortalTMSB10 2p11.2 CD63 12q13.2 PRAD
Fusion : QuiverCD63
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCD63 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CD63
dbVarCD63
ClinVarCD63
1000_GenomesCD63 
Exome Variant ServerCD63
ExAC (Exome Aggregation Consortium)ENSG00000135404
GNOMAD BrowserENSG00000135404
Varsome BrowserCD63
Genetic variants : HAPMAP967
Genomic Variants (DGV)CD63 [DGVbeta]
DECIPHERCD63 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCD63 
Mutations
ICGC Data PortalCD63 
TCGA Data PortalCD63 
Broad Tumor PortalCD63
OASIS PortalCD63 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCD63  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCD63
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CD63
DgiDB (Drug Gene Interaction Database)CD63
DoCM (Curated mutations)CD63 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CD63 (select a term)
intoGenCD63
Cancer3DCD63(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM155740   
Orphanet
DisGeNETCD63
MedgenCD63
Genetic Testing Registry CD63
NextProtP08962 [Medical]
TSGene967
GENETestsCD63
Target ValidationCD63
Huge Navigator CD63 [HugePedia]
snp3D : Map Gene to Disease967
BioCentury BCIQCD63
ClinGenCD63
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD967
Chemical/Pharm GKB GenePA26231
Clinical trialCD63
Miscellaneous
canSAR (ICR)CD63 (select the gene name)
DataMed IndexCD63
Probes
Litterature
PubMed190 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCD63
EVEXCD63
GoPubMedCD63
iHOPCD63
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 : Thu May 2 12:42:51 CEST 2019
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