NUDT11
Chr Xnudix hydrolase 11
Also known as: APS1, ASP1, DIPP3b, DIPP3beta, hDIPP3beta
The NUDT11 protein is a phosphohydrolase that cleaves phosphate groups from diphosphoinositol polyphosphates and hydrolyzes dinucleoside oligophosphates, functioning in cellular signal transduction pathways. Mutations in this gene cause neurodevelopmental disorders with intellectual disability, though the gene shows relatively low constraint to loss-of-function variation. The inheritance pattern and specific clinical phenotypes associated with NUDT11 variants require further characterization.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
100 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 | 78 | 0 | 78 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 5 | 5 | 0 | 10 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 0 | 4 | 4 |
| Total | 0 | 5 | 86 | 5 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NUDT11 · 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