USP7
Chr 16ADubiquitin specific peptidase 7
Also known as: C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1
USP7 encodes a deubiquitinating enzyme that removes ubiquitin from target proteins including p53, PTEN, and components involved in DNA repair and chromatin regulation. Mutations cause Hao-Fountain syndrome, a neurodevelopmental disorder with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants in the general population.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
USP7 · 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