DIDO1

Chr 20

death inducer-obliterator 1

Also known as: BYE1, C20orf158, DATF-1, DATF1, DIDO2, DIDO3, DIO-1, DIO1

NCBI Gene: 11083ENSG00000101191UniProt: Q9BTC0

The DIDO1 protein functions as a transcription factor and tumor suppressor that is required for early embryonic stem cell development. Mutations cause intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, which follows an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
4
Pubs (1 yr)
32
P/LP submissions
0%
P/LP missense
0.19
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— DIDO1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
32 unique Pathogenic / Likely Pathogenic· 174 VUS of 275 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.19LOEUF
pLI 1.000
Z-score 7.31
OE 0.10 (0.06–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.10Z-score
OE missense 0.92 (0.88–0.96)
1292 obs / 1408.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.06–0.19)
0≤0.351.4
Missense OE0.92 (0.88–0.96)
0≤0.61.4
Synonymous OE1.10
0≤1.21.6
LoF obs/exp: 8 / 77.3Missense obs/exp: 1292 / 1408.0Syn Z: -2.03
DN
0.18100th %ile
GOF
0.1699th %ile
LOF
0.87top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.19

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

275 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic6
VUS174
Likely Benign26
Benign10
Conflicting1
26
Pathogenic
6
Likely Pathogenic
174
VUS
26
Likely Benign
10
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
26
0
26
Likely Pathogenic
0
0
6
0
6
VUS
0
159
15
0
174
Likely Benign
0
16
1
9
26
Benign
0
4
0
6
10
Conflicting
—1
Total01794815243

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DIDO1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients