DDX3X
Chr XDEAD-box helicase 3 X-linked
Also known as: CAP-Rf, DBX, DDX14, DDX3, HLP2, MRX102, MRXSSB
The protein is an ATP-dependent RNA helicase that regulates transcription, mRNA splicing, mRNA export, and translation in both nuclear and cytoplasmic compartments. Loss-of-function mutations cause X-linked intellectual developmental disorder, Snijders Blok type, which can follow either X-linked dominant or recessive inheritance patterns. The gene is highly intolerant to loss-of-function variants, indicating that haploinsufficiency is the primary disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DDX3X · 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
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGSelinexor in Combination With R-CHOP as the First-line Therapy for TP53-mutated DLBCL Patients (Smart Trial)
RECRUITINGExternal Resources
Links to major genomics databases and tools