F9 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- F9 (HGNC:3551) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coagulation factor IX
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FIX
- %HI
- 40.27(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.17(Read more about gnomAD LOEUF score)
- Cytoband
- Xq27.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:138612898-138645618 NCBI Ensembl UCSC GRCh38/hg38: chrX:139530739-139563459 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000133.4 ENST00000218099.7 (Read more about MANE Select)
- Function
- Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. {ECO:0000269|PubMed:1730085, ECO:0000269|PubMed:19846852, ECO:0000269|PubMed:20121197, ECO:0000269|PubMed:20121198, ECO:0000269|PubMed:2592373, ECO:0000269|PubMed:8295821}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- hemophilia B Monarch
-
PUBMED:
20301668
Hemophilia B is an X‐chromosome‐linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factor IX (F9) activity levels may also experience some bleeding. Hemophilia B has a prevalence of approximately 1 in 30,000 males. Loss-of-function variants in the F9 gene are a known cause of this disorder. Numerous deletions and loss-of-function point mutations are reported in public/commercial databases (see MIM: #300746 and GeneReviews).
-
PUBMED:
29296726
Johnsen et al. (2017) used an NGS-based approach to genotype hemophilia patients in a large study comprising of approximately 15% of hemophilia cases in the United States and detected a causative variant in the F9 gene in 595/599 individuals with hemophilia B, including 217 previously unreported unique variants. Missense variants accounted for most of the variants detected in males with mild or moderate hemophilia B (87%). Nonsense, frameshift, and larger (>50 bp) SVs including inversions made up to 45% of variants detected in males with severe hemophilia B, consistent with the predicted negative impact of these types of variants on gene function.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.