OTUD1
Chr 10OTU deubiquitinase 1
Also known as: DUBA7, OTDC1
The OTUD1 protein is a deubiquitinating enzyme that specifically cleaves lysine-63-linked polyubiquitin chains and regulates ribosomal protein stability to ensure proper translation of mRNAs containing rare codons. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in infancy. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.619), suggesting some tolerance to haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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.
ClinVar Variant Classifications
128 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 101 | 0 | 0 | 101 |
Likely Benign | 0 | 4 | 0 | 7 | 11 |
Benign | 0 | 2 | 1 | 3 | 6 |
| Total | 0 | 107 | 10 | 10 | 127 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OTUD1 · 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