PCGF6

Chr 10

polycomb group ring finger 6

Also known as: MBLR, RNF134

NCBI Gene: 84108ENSG00000156374UniProt: Q9BYE7OMIM: 607816

The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 1.97
OE 0.52 (0.32–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.78Z-score
OE missense 0.83 (0.72–0.96)
141 obs / 169.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.32–0.88)
0≤0.351.4
Missense OE?0.83 (0.72–0.96)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 10 / 19.3Missense obs/exp: 141 / 169.6Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCGF6 · 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