DAW1

Chr 2

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 52

Clinical highlights

Gene-disease validity (ClinGen)
visceral heterotaxy · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.81
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.50 (0.320.81)
00.351.4
Missense OE?0.97 (0.871.09)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 12 / 23.9Missense obs/exp: 215 / 221.7Syn Z: 0.07

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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