TOPORS
Chr 9ADTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Also known as: LUN, P53BP3, RP31, TP53BPL
This gene encodes an E3 ubiquitin ligase that regulates protein stability and chromatin modification, with high expression in testis and functions in cell growth regulation and DNA damage response. Mutations cause retinitis pigmentosa 31, an inherited retinal dystrophy, with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.242), indicating intolerance to protein-disrupting mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TOPORS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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