USP11
Chr Xubiquitin specific peptidase 11
Also known as: UHX1
USP11 encodes a deubiquitinating enzyme that removes ubiquitin from target proteins, regulating protein degradation, DNA repair, and cell cycle progression through stabilization of key substrates like E2F1. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.17) and is located on the X chromosome. Mutations in USP11 cause X-linked intellectual disability with variable features that may include developmental delay and neurological manifestations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
USP11 · 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