PCGF5

Chr 10

polycomb group ring finger 5

Also known as: RNF159

NCBI Gene: 84333ENSG00000180628UniProt: Q86SE9

Predicted to enable histone H2AK119 ubiquitin ligase activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in centrosome and nucleoplasm. Part of PcG protein complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.980
Z-score 3.82
OE 0.10 (0.04–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.39Z-score
OE missense 0.42 (0.34–0.53)
58 obs / 136.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.10 (0.04–0.30)
0≤0.351.4
Missense OE?0.42 (0.34–0.53)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 2 / 20.8Missense obs/exp: 58 / 136.7Syn Z: 1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCGF5 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients