DAW1

Chr 2AR

dynein assembly factor with WD repeats 1

Also known as: CILD52, DNAAF18, ODA16, WDR69

NCBI Gene: 164781 ENSG00000123977 UniProt: Q8N136 OMIM: 620279

This protein is required for axonemal dynein assembly and ciliary motility in ciliated organs during embryogenesis. Mutations cause primary ciliary dyskinesia, a disorder affecting respiratory cilia function, situs determination, and other ciliated organ systems. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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 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, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 52MIM #620570

Clinical highlights

Gene–disease validity (ClinGen)

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.81LOEUF

pLI 0.000

Z-score 2.26

OE 0.50 (0.32–0.81)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.16Z-score

OE missense 0.97 (0.87–1.09)

215 obs / 221.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.50 (0.32–0.81)

0≤0.351.4

Missense OE?0.97 (0.87–1.09)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 12 / 23.9Missense obs/exp: 215 / 221.7Syn Z: 0.07

Background carrier burden — how many people carry a rare variant somewhere in DAW1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 73

535 rare PASS variants

Rare truncating (LoF)

1 in 1,000

90 rare PASS variants

Rare synonymous (reference)

1 in 320

200 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DAW1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 1,800
South Asian	~43k	1 in 93	1 in 1,900
Remaining (unassigned)	~30k	1 in 110	1 in 1,700
European (Finnish)	~27k	1 in 400	≈ 1 in 27,000
Admixed American	~22k	1 in 69	1 in 2,700
African / African American	~21k	1 in 83	1 in 1,200
East Asian	~20k	1 in 90	1 in 2,600
Ashkenazi Jewish	~13k	1 in 290	none seen
Middle Eastern	~2,884	1 in 73	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 13 coding exons well covered in gnomAD exomes; exon 6 marginal. Genomes: all 13.? see exons ↓