DNAI4
Chr 1dynein axonemal intermediate chain 4
Also known as: DIC4, WDR78
The DNAI4 protein is critical for assembly of axonemal dynein complexes that drive ciliary motility. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance, affecting the respiratory system, fertility, and potentially laterality determination. This gene shows extremely low constraint against loss-of-function variants (pLI near 0), consistent with recessive disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
192 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 | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 127 | 8 | 0 | 135 |
Likely Benign | 0 | 12 | 0 | 0 | 12 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 139 | 32 | 0 | 171 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAI4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →No open access results found
External Resources
Links to major genomics databases and tools