OTUD6B
Chr 8AROTU deubiquitinase 6B
Also known as: CGI-77, DUBA-5, DUBA5, IDDFSDA
This gene encodes a deubiquitinating enzyme that removes ubiquitin from proteins and regulates protein synthesis, cell growth, and proliferation. Mutations cause autosomal recessive intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies. The gene is not highly constrained against loss-of-function variants (pLI near 0), which is consistent with the recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OTUD6B · 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