DHX9
Chr 1ADDExH-box helicase 9
Also known as: DDX9, LKP, MRD75, NDH2, NDHII, RHA
The DHX9 protein is an ATP-dependent helicase that unwinds double-stranded RNA and DNA-RNA complexes and functions as a transcriptional regulator involved in DNA replication, RNA processing, and gene expression. Mutations cause autosomal dominant intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.105), indicating that even heterozygous loss is likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
226 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 | 9 | 1 | 26 | 0 | 36 |
Likely Pathogenic | 3 | 4 | 1 | 0 | 8 |
VUS | 8 | 109 | 6 | 0 | 123 |
Likely Benign | 0 | 4 | 2 | 10 | 16 |
Benign | 0 | 0 | 1 | 2 | 3 |
Conflicting | — | 1 | |||
| Total | 20 | 118 | 36 | 12 | 187 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DHX9 · 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