DDIAS
Chr 11DNA damage induced apoptosis suppressor
Also known as: C11orf82, noxin
DDIAS encodes a protein that negatively regulates intrinsic apoptotic signaling in response to DNA damage and maintains DNA stability, functioning as an anti-apoptotic protein involved in DNA repair and cell survival. Mutations cause autosomal recessive developmental delay, seizures, and hypotonia. The gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
152 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 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 114 | 2 | 0 | 116 |
Likely Benign | 0 | 15 | 0 | 0 | 15 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 129 | 17 | 0 | 146 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DDIAS · 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