DDIAS

Chr 11

DNA damage induced apoptosis suppressor

Also known as: C11orf82, noxin

NCBI Gene: 220042 ENSG00000165490 UniProt: Q8IXT1

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.

ResearchSummary from RefSeq, UniProt

Involved in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage and regulation of DNA stability. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.86LOEUF

pLI 0.000

Z-score 2.16

OE 0.59 (0.41–0.86)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.26Z-score

OE missense 0.97 (0.90–1.04)

467 obs / 482.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.59 (0.41–0.86)

0≤0.351.4

Missense OE?0.97 (0.90–1.04)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 19 / 32.3Missense obs/exp: 467 / 482.8Syn Z: 1.68

Background carrier burden — how many people carry a rare variant somewhere in DDIAS?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

1,185 rare PASS variants

Rare truncating (LoF)

1 in 420

231 rare PASS variants

Rare synonymous (reference)

1 in 220

389 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DDIAS. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 86	1 in 470
South Asian	~43k	1 in 52	1 in 230
Remaining (unassigned)	~30k	1 in 39	1 in 310
European (Finnish)	~27k	1 in 190	1 in 1,500
Admixed American	~22k	1 in 70	1 in 460
African / African American	~21k	1 in 53	1 in 450
East Asian	~20k	1 in 70	1 in 270
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 3,500
Middle Eastern	~2,884	1 in 48	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 3 of 4 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 4.? see exons ↓