FBXO15

Chr 18

F-box protein 15

Also known as: FBX15

The protein functions as a substrate-recognition component of SCF ubiquitin ligase complexes, which target specific proteins for degradation. The gene is highly constrained against loss-of-function variants (LOEUF 0.42), but no specific human diseases have been definitively associated with FBXO15 mutations in the medical literature to date. Further research is needed to establish any clinical phenotypes and inheritance patterns associated with this gene.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
152
P/LP submissions
0%
P/LP missense
0.42
LOEUF
Mechanism
Clinical SummaryFBXO15
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.71) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
150 unique Pathogenic / Likely Pathogenic· 87 VUS of 250 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.42LOEUF
pLI 0.711
Z-score 3.51
OE 0.19 (0.090.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.48Z-score
OE missense 0.92 (0.831.02)
251 obs / 273.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.090.42)
00.351.4
Missense OE0.92 (0.831.02)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 4 / 21.6Missense obs/exp: 251 / 273.3Syn Z: -0.40

ClinVar Variant Classifications

250 submitted variants in ClinVar

Classification Summary

Pathogenic144
Likely Pathogenic6
VUS87
Likely Benign6
Benign1
144
Pathogenic
6
Likely Pathogenic
87
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
144
0
144
Likely Pathogenic
0
0
6
0
6
VUS
0
73
14
0
87
Likely Benign
0
5
0
1
6
Benign
0
0
0
1
1
Total0781642244

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FBXO15 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗