USP27X
Chr XXLRubiquitin specific peptidase 27 X-linked
Also known as: MRX105, USP22L, USP27, XLID105
The protein functions as a deubiquitinase that regulates innate antiviral immunity by deubiquitinating CGAS and RIG-I, and stabilizes the pro-apoptotic protein BIM. Mutations cause X-linked intellectual developmental disorder 105 through an X-linked recessive inheritance pattern. The high pLI score (0.92) and low LOEUF score (0.36) indicate strong intolerance to loss-of-function variants, suggesting haploinsufficiency as the likely pathogenic mechanism.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
146 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 | 69 | 0 | 69 |
Likely Pathogenic | 5 | 1 | 1 | 0 | 7 |
VUS | 2 | 52 | 9 | 0 | 63 |
Likely Benign | 0 | 1 | 0 | 5 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 7 | 54 | 79 | 5 | 146 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USP27X · 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