RNF133

Chr 7

ring finger protein 133

NCBI Gene: 168433ENSG00000188050UniProt: Q8WVZ7OMIM: 620556

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.037
Z-score 1.87
OE 0.38 (0.18–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.38Z-score
OE missense 1.08 (0.96–1.20)
216 obs / 200.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.18–0.87)
0≤0.351.4
Missense OE?1.08 (0.96–1.20)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 4 / 10.6Missense obs/exp: 216 / 200.8Syn Z: -0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF133 · 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