F13A1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- F13A1 (HGNC:3531) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coagulation factor XIII A chain
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- F13A
- Alias symbols
- No aliases found
- %HI
- 36.61(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.74(Read more about gnomAD LOEUF score)
- Cytoband
- 6p25.1
- Genomic Coordinates
-
GRCh37/hg19: chr6:6144317-6320895 NCBI Ensembl UCSC GRCh38/hg38: chr6:6144084-6320662 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000129.4 ENST00000264870.8 (Read more about MANE Select)
- Function
- Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl- epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. {ECO:0000269|PubMed:27363989}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-8512
ClinGen Curation ID:
CCID:007103
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- factor XIII, A subunit, deficiency of Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)