FBXO9

Chr 6

F-box protein 9

Also known as: FBX9, NY-REN-57, VCIA1, dJ341E18.2

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 2.72
OE 0.42 (0.270.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.71Z-score
OE missense 0.69 (0.600.78)
162 obs / 236.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.270.70)
00.351.4
Missense OE?0.69 (0.600.78)
00.61.4
Synonymous OE?0.78
01.21.6
LoF obs/exp: 11 / 26.0Missense obs/exp: 162 / 236.0Syn Z: 1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXO9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →