DDX17

Chr 22

DEAD-box helicase 17

Also known as: P72, RH70

NCBI Gene: 10521ENSG00000100201UniProt: Q92841OMIM: 608469

The DDX17 protein is an RNA helicase that unwinds RNA structures and regulates pre-mRNA splicing, microRNA processing, ribosomal RNA processing, and transcriptional activation of various genes involved in development and hormone signaling. Mutations in DDX17 cause autosomal dominant intellectual disability with distinctive facial features and developmental delays. This gene is extremely intolerant to loss-of-function variants (pLI 1.0, LOEUF 0.126), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.13
Clinical Summary— DDX17
⚡
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
26 unique Pathogenic / Likely Pathogenic· 18 VUS of 63 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.13LOEUF
pLI 1.000
Z-score 5.54
OE 0.03 (0.01–0.13)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
3.87Z-score
OE missense 0.47 (0.42–0.53)
202 obs / 427.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.03 (0.01–0.13)
0≤0.351.4
Missense OE0.47 (0.42–0.53)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 1 / 37.7Missense obs/exp: 202 / 427.3Syn Z: 0.06
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateDDX17-related neurodevelopmental disorderLOFAD
DN
0.5180th %ile
GOF
0.4875th %ile
LOF
0.70top 10%

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

LOFprediction above median · LOEUF 0.13

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

63 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic5
VUS18
Likely Benign1
Benign1
Conflicting1
21
Pathogenic
5
Likely Pathogenic
18
VUS
1
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
19
0
21
Likely Pathogenic
0
2
3
0
5
VUS
4
10
4
0
18
Likely Benign
0
1
0
0
1
Benign
0
0
0
1
1
Conflicting
—1
Total61326147

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

View in ClinVar →

Protein Context — Lollipop Plot

DDX17 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
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