CCDC169

Chr 13

coiled-coil domain containing 169

Also known as: C13orf38

NCBI Gene: 728591 ENSG00000242715 UniProt: A6NNP5

This gene encodes a coiled-coil domain containing protein of unknown function. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting ciliary structure and function that leads to chronic respiratory infections, bronchiectasis, and often situs inversus. The gene shows minimal constraint against loss-of-function variants in population databases.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.91

OE 0.73 (0.45–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.33Z-score

OE missense 0.91 (0.78–1.07)

102 obs / 111.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.73 (0.45–1.25)

0≤0.351.4

Missense OE?0.91 (0.78–1.07)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 10 / 13.6Missense obs/exp: 102 / 111.9Syn Z: 0.72

Background carrier burden — how many people carry a rare variant somewhere in CCDC169?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

325 rare PASS variants

Rare truncating (LoF)

1 in 1,100

74 rare PASS variants

Rare synonymous (reference)

1 in 800

110 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC169. 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)	~539k	1 in 410	1 in 1,600
South Asian	~40k	1 in 120	1 in 530
Remaining (unassigned)	~29k	1 in 170	1 in 800
European (Finnish)	~25k	1 in 1,300	1 in 2,400
African / African American	~21k	1 in 200	1 in 420
East Asian	~18k	1 in 150	1 in 1,000
Admixed American	~18k	1 in 120	1 in 1,200
Ashkenazi Jewish	~13k	1 in 2,500	none seen
Middle Eastern	~2,849	1 in 180	≈ 1 in 1,400

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): 7 of 8 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 8.? see exons ↓