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ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

Identity

Other namesADAM-TS13
ADAMTS-13
C9orf8
VWFCP
vWF-CP
HGNC (Hugo) ADAMTS13
LocusID (NCBI) 11093
Atlas_Id 45779
Location 9q34.2
Location_base_pair Starts at 136287120 and ends at 136324525 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAMTS13 (9q34.2) / LHX2 (9q33.3)FSD1L (9q31.2) / ADAMTS13 (9q34.2)ADAMTS13 9q34.2 / LHX2 9q33.3
FSD1L 9q31.2 / ADAMTS13 9q34.2

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

 


External links

Nomenclature
HGNC (Hugo)ADAMTS13   1366
Cards
Entrez_Gene (NCBI)ADAMTS13  11093  ADAM metallopeptidase with thrombospondin type 1 motif 13
GeneCards (Weizmann)ADAMTS13
Ensembl hg19 (Hinxton)ENSG00000160323 [Gene_View]  chr9:136287120-136324525 [Contig_View]  ADAMTS13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160323 [Gene_View]  chr9:136287120-136324525 [Contig_View]  ADAMTS13 [Vega]
ICGC DataPortalENSG00000160323
TCGA cBioPortalADAMTS13
AceView (NCBI)ADAMTS13
Genatlas (Paris)ADAMTS13
WikiGenes11093
SOURCE (Princeton)ADAMTS13
Genomic and cartography
GoldenPath hg19 (UCSC)ADAMTS13  -     chr9:136287120-136324525 +  9q34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ADAMTS13  -     9q34.2   [Description]    (hg38-Dec_2013)
EnsemblADAMTS13 - 9q34.2 [CytoView hg19]  ADAMTS13 - 9q34.2 [CytoView hg38]
Mapping of homologs : NCBIADAMTS13 [Mapview hg19]  ADAMTS13 [Mapview hg38]
OMIM274150   604134   
Gene and transcription
Genbank (Entrez)AB069698 AF414400 AF414401 AJ011374 AJ305314
RefSeq transcript (Entrez)NM_139025 NM_139026 NM_139027 NM_139028
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_011934 NT_008470 NW_004929367 NW_009646201
Consensus coding sequences : CCDS (NCBI)ADAMTS13
Cluster EST : UnigeneHs.131433 [ NCBI ]
CGAP (NCI)Hs.131433
Alternative Splicing GalleryENSG00000160323
Gene ExpressionADAMTS13 [ NCBI-GEO ]   ADAMTS13 [ EBI - ARRAY_EXPRESS ]   ADAMTS13 [ SEEK ]   ADAMTS13 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTS13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11093
GTEX Portal (Tissue expression)ADAMTS13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ76LX8 (Uniprot)
NextProtQ76LX8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ76LX8
Splice isoforms : SwissVarQ76LX8 (Swissvar)
Catalytic activity : Enzyme3.4.24.87 [ Enzyme-Expasy ]   3.4.24.873.4.24.87 [ IntEnz-EBI ]   3.4.24.87 [ BRENDA ]   3.4.24.87 [ KEGG ]   
PhosPhoSitePlusQ76LX8
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    TSP1 (PS50092)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)CUB_dom    MetalloPept_cat_dom    Peptidase_M12B    Peptidase_M12B_ADAM-TS    TSP1_rpt   
Domain families : Pfam (Sanger)Reprolysin (PF01421)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam01421    pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
DMDM Disease mutations11093
Blocks (Seattle)ADAMTS13
PDB (SRS)3GHM    3GHN    3VN4   
PDB (PDBSum)3GHM    3GHN    3VN4   
PDB (IMB)3GHM    3GHN    3VN4   
PDB (RSDB)3GHM    3GHN    3VN4   
Structural Biology KnowledgeBase3GHM    3GHN    3VN4   
SCOP (Structural Classification of Proteins)3GHM    3GHN    3VN4   
CATH (Classification of proteins structures)3GHM    3GHN    3VN4   
SuperfamilyQ76LX8
Human Protein AtlasENSG00000160323
Peptide AtlasQ76LX8
HPRD04994
IPIIPI00449028   IPI00453457   IPI00427822   IPI00645987   IPI00334996   IPI01018932   IPI00160506   IPI00843978   
Protein Interaction databases
DIP (DOE-UCLA)Q76LX8
IntAct (EBI)Q76LX8
FunCoupENSG00000160323
BioGRIDADAMTS13
STRING (EMBL)ADAMTS13
ZODIACADAMTS13
Ontologies - Pathways
QuickGOQ76LX8
Ontology : AmiGOmetalloendopeptidase activity  integrin binding  calcium ion binding  protein binding  proteinaceous extracellular matrix  extracellular space  endoplasmic reticulum lumen  proteolysis  cell-matrix adhesion  integrin-mediated signaling pathway  metallopeptidase activity  zinc ion binding  glycoprotein metabolic process  response to toxic substance  cell surface  protein processing  platelet activation  response to interferon-gamma  response to tumor necrosis factor  protein O-linked fucosylation  peptide catabolic process  response to interleukin-4  
Ontology : EGO-EBImetalloendopeptidase activity  integrin binding  calcium ion binding  protein binding  proteinaceous extracellular matrix  extracellular space  endoplasmic reticulum lumen  proteolysis  cell-matrix adhesion  integrin-mediated signaling pathway  metallopeptidase activity  zinc ion binding  glycoprotein metabolic process  response to toxic substance  cell surface  protein processing  platelet activation  response to interferon-gamma  response to tumor necrosis factor  protein O-linked fucosylation  peptide catabolic process  response to interleukin-4  
NDEx Network
Atlas of Cancer Signalling NetworkADAMTS13
Wikipedia pathwaysADAMTS13
Orthology - Evolution
OrthoDB11093
GeneTree (enSembl)ENSG00000160323
Phylogenetic Trees/Animal Genes : TreeFamADAMTS13
Homologs : HomoloGeneADAMTS13
Homology/Alignments : Family Browser (UCSC)ADAMTS13
Gene fusions - Rearrangements
Fusion: TCGAADAMTS13 9q34.2 LHX2 9q33.3 BRCA
Fusion: TCGAFSD1L 9q31.2 ADAMTS13 9q34.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerADAMTS13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTS13
dbVarADAMTS13
ClinVarADAMTS13
1000_GenomesADAMTS13 
Exome Variant ServerADAMTS13
ExAC (Exome Aggregation Consortium)ADAMTS13 (select the gene name)
Genetic variants : HAPMAP11093
Genomic Variants (DGV)ADAMTS13 [DGVbeta]
Mutations
ICGC Data PortalADAMTS13 
TCGA Data PortalADAMTS13 
Broad Tumor PortalADAMTS13
OASIS PortalADAMTS13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTS13 
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch ADAMTS13
DgiDB (Drug Gene Interaction Database)ADAMTS13
DoCM (Curated mutations)ADAMTS13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTS13 (select a term)
intoGenADAMTS13
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:136287120-136324525  ENSG00000160323
CONAN: Copy Number AnalysisADAMTS13 
Mutations and Diseases : HGMDADAMTS13
OMIM274150    604134   
MedgenADAMTS13
Genetic Testing Registry ADAMTS13
NextProtQ76LX8 [Medical]
TSGene11093
GENETestsADAMTS13
Huge Navigator ADAMTS13 [HugePedia]
snp3D : Map Gene to Disease11093
BioCentury BCIQADAMTS13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11093
Chemical/Pharm GKB GenePA24539
Clinical trialADAMTS13
Miscellaneous
canSAR (ICR)ADAMTS13 (select the gene name)
Probes
Litterature
PubMed347 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTS13
EVEXADAMTS13
GoPubMedADAMTS13
iHOPADAMTS13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:35:59 CEST 2016

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