ASB13
Chr 10ankyrin repeat and SOCS box containing 13
The protein encoded by ASB13 is a substrate-recognition component of an E3 ubiquitin ligase complex that targets specific proteins for degradation via the ubiquitin-proteasome system. Mutations cause autosomal recessive retinitis pigmentosa, a progressive retinal dystrophy leading to vision loss. This gene is not highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
101 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 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 48 | 10 | 0 | 58 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 48 | 36 | 0 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ASB13 · 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 →No open access results found
External Resources
Links to major genomics databases and tools