RNF148

Chr 7

ring finger protein 148

NCBI Gene: 378925ENSG00000235631UniProt: Q8N7C7

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be located in membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and late endosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.56
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.56LOEUF
pLI 0.000
Z-score 0.27
OE 0.91 (0.55–1.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.52Z-score
OE missense 1.33 (1.19–1.49)
222 obs / 166.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.55–1.56)
0≤0.351.4
Missense OE?1.33 (1.19–1.49)
0≤0.61.4
Synonymous OE?1.32
0≤1.21.6
LoF obs/exp: 9 / 9.9Missense obs/exp: 222 / 166.8Syn Z: -1.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF148 · 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