RNF157
Chr 17ring finger protein 157
The protein functions as an E3 ubiquitin ligase that ubiquitinates APBB1 for proteasomal degradation, preventing neuronal apoptosis and promoting cell survival, while also serving as a scaffold molecule required for dendrite growth and maintenance. The protein acts downstream of PI3K and MAPK signaling pathways to regulate cell cycle processes. No associated human diseases have been reported for RNF157 mutations based on the available information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
148 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 93 | 4 | 0 | 97 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 1 | 0 | 3 | 4 |
| Total | 0 | 97 | 19 | 4 | 120 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RNF157 · 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 →External Resources
Links to major genomics databases and tools