ADAMTS13
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ADAMTS13 (HGNC:1366) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ADAM metallopeptidase with thrombospondin type 1 motif 13
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C9orf8
Alias symbols
VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322
%HI
81.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
9q34.2
Genomic Coordinates
GRCh37/hg19: chr9:136279457-136324508 NCBI Ensembl UCSC
GRCh38/hg38: chr9:133414337-133459386 NCBI Ensembl UCSC
MANE Select Transcript
NM_139027.6 ENST00000355699.7 (Read more about MANE Select)
Function
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation. {ECO:0000269|PubMed:19880749}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6095
ClinGen Curation ID:
CCID:006621
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital thrombotic thrombocytopenic purpura Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)