FBXO25

Chr 8

F-box protein 25

Also known as: FBX25

The protein functions as a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes, which target specific proteins for degradation through the ubiquitin-proteasome system. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0), indicating that haploinsufficiency is likely pathogenic, though specific disease associations have not yet been established in humans. The inheritance pattern for pathogenic variants would be expected to be autosomal dominant given the high constraint against loss-of-function.

Summary from RefSeq, UniProt
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0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.74
LOEUF
Mechanism
Clinical SummaryFBXO25
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.74LOEUF
pLI 0.000
Z-score 2.49
OE 0.44 (0.270.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.57Z-score
OE missense 1.12 (1.001.25)
217 obs / 194.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.44 (0.270.74)
00.351.4
Missense OE1.12 (1.001.25)
00.61.4
Synonymous OE1.58
01.21.6
LoF obs/exp: 10 / 22.9Missense obs/exp: 217 / 194.6Syn Z: -3.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXO25 · 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.

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Clinical Literature
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