FBXO36

Chr 2

F-box protein 36

Also known as: Fbx36

Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

0
Active trials
1
Pubs (1 yr)
35
P/LP submissions
0%
P/LP missense
1.74
LOEUF
Mechanism
Clinical SummaryFBXO36
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
35 unique Pathogenic / Likely Pathogenic· 38 VUS of 85 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.74LOEUF
pLI 0.000
Z-score -0.14
OE 1.05 (0.631.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.40Z-score
OE missense 1.11 (0.951.30)
111 obs / 99.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.05 (0.631.74)
00.351.4
Missense OE1.11 (0.951.30)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 9 / 8.6Missense obs/exp: 111 / 99.8Syn Z: 0.07

ClinVar Variant Classifications

85 submitted variants in ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic1
VUS38
Likely Benign5
34
Pathogenic
1
Likely Pathogenic
38
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
1
0
1
VUS
0
29
9
0
38
Likely Benign
0
3
2
0
5
Benign
0
0
0
0
0
Total03246078

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

View in ClinVar →

Protein Context — Lollipop Plot

FBXO36 · 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 →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

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