FBXL18

Chr 7

F-box and leucine rich repeat protein 18

Also known as: Fbl18

The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.88
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 1.94
OE 0.50 (0.300.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.80Z-score
OE missense 0.77 (0.710.84)
369 obs / 479.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.300.88)
00.351.4
Missense OE?0.77 (0.710.84)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 9 / 17.9Missense obs/exp: 369 / 479.7Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FBXL18 · 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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