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)
Triplosensitivity:
Not Yet Evaluated
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)