FBXO47
Chr 17F-box protein 47
Clinical Summary— FBXO47
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.56LOEUF
pLI 0.035
Z-score 3.16
OE 0.30 (0.17–0.56)
More LoF-intolerant than ~75% of genes
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.05Z-score
OE missense 0.99 (0.89–1.10)
240 obs / 242.0 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.30 (0.17–0.56)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.89–1.10)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.85
0≤1.21.6
LoF obs/exp: 7 / 23.6Missense obs/exp: 240 / 242.0Syn Z: 1.08
DN
0.6550th %ile
GOF
0.6247th %ile
LOF
0.3066th %ile
The highest-scoring mechanism for this gene is dominant-negative.
DNprediction above median
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FBXO47 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
GABPB1-AS1 acts as a tumor suppressor and inhibits non-small cell lung cancer progression by targeting miRNA-566/F-box protein 47
Lv H et al.·Oncol Res
2022
Corrigendum to "A 3'-tRNA-derived fragment enhances cell proliferation, migration and invasion in gastric cancer by targeting FBXO47" [Arch Biochem Biophys. 2020 Sep 15; 690: 108467].
Zhang F et al.·Arch Biochem Biophys
2021
SCF ubiquitin E3 ligase regulates DNA double-strand breaks in early meiotic recombination
Guan Y et al.·Nucleic Acids Res
2022
Genetic assessment of the effect of red yeast (Sporidiobolus pararoseus) as a feed additive on mycotoxin toxicity in laying hens
Hosseini S et al.·Front Microbiol
2023
PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1 and ZCWPW2
Cavassim MIA et al.·Proc Natl Acad Sci U S A
2022
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Protective effects of corn silk and asparagus Officinalis against formaldehyde-induced reproductive toxicity in male rats via CDK2/Spem1/Fbxo47 and Tet1 pathways.
Zedan A et al.·Toxicol Res (Camb)
2025
FBXO47 regulates centromere pairing as key component of centromeric SCF E3 ligase in mouse spermatocytes.
Ma A et al.·Commun Biol
2024Open AccessFunctional
FBXO47 is essential for preventing the synaptonemal complex from premature disassembly in mouse male meiosis.
Tanno N et al.·iScience
2022Open AccessFunctional
A 3'-tRNA-derived fragment enhances cell proliferation, migration and invasion in gastric cancer by targeting FBXO47.
Zhang F et al.·Arch Biochem Biophys
2020
In vitro effects of androgen on testicular development by the AR-foxl3-rec8/fbxo47 axis in orange-spotted grouper (Epinephelus coioides).
Lin F et al.·Gen Comp Endocrinol
2020
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools