DAW1

Chr 2AR

dynein assembly factor with WD repeats 1

Also known as: CILD52, DNAAF18, ODA16, WDR69

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in protein polyubiquitination. Predicted to act upstream of with a positive effect on outer dynein arm assembly. Predicted to act upstream of or within with a positive effect on intraciliary transport. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and heart development. Predicted to be located in ciliary basal body. Predicted to be part of SCF ubiquitin ligase complex. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 52MIM #620570
AR
0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.81
LOEUF
DN
Mechanism· predicted
Clinical SummaryDAW1
🧬
Gene-Disease Validity (ClinGen)
visceral heterotaxy · ARModerate

Moderate evidence — consider for supplementary testing

2 total gene-disease associations curated

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.81LOEUF
pLI 0.000
Z-score 2.26
OE 0.50 (0.320.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.16Z-score
OE missense 0.97 (0.871.09)
215 obs / 221.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.320.81)
00.351.4
Missense OE0.97 (0.871.09)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 12 / 23.9Missense obs/exp: 215 / 221.7Syn Z: 0.07
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateDAW1-related ciliopathyOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.74top 25%
GOF
0.5660th %ile
LOF
0.3162th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DAW1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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