CCDC107

Chr 9

coiled-coil domain containing 107

Also known as: PSEC0222

NCBI Gene: 203260 ENSG00000159884 UniProt: Q8WV48

The protein is a membrane protein containing a coiled-coil domain with multiple isoforms produced through alternative splicing. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting ciliary function that leads to chronic respiratory infections, sinusitis, and often situs inversus. Symptoms typically begin in infancy or early childhood with recurrent pneumonia and bronchiectasis.

ResearchSummary from RefSeq

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.72

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.72LOEUF

pLI 0.000

Z-score -0.29

OE 1.09 (0.70–1.72)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.19Z-score

OE missense 0.95 (0.83–1.10)

139 obs / 145.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.09 (0.70–1.72)

0≤0.351.4

Missense OE?0.95 (0.83–1.10)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 12 / 11.0Missense obs/exp: 139 / 145.6Syn Z: 0.25

Background carrier burden — how many people carry a rare variant somewhere in CCDC107?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

427 rare PASS variants

Rare truncating (LoF)

1 in 910

96 rare PASS variants

Rare synonymous (reference)

1 in 360

174 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CCDC107; this gene does not show strong loss-of-function constraint by this measure. 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 270	1 in 1,300
South Asian	~43k	1 in 170	1 in 750
Remaining (unassigned)	~30k	1 in 170	1 in 810
European (Finnish)	~27k	1 in 560	1 in 5,300
Admixed American	~22k	1 in 120	1 in 590
African / African American	~21k	1 in 130	1 in 1,700
East Asian	~20k	1 in 150	1 in 1,700
Ashkenazi Jewish	~13k	1 in 420	1 in 1,200
Middle Eastern	~2,884	1 in 240	1 in 480

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 3 of 5 coding exons well covered in gnomAD exomes; exons 1, 2 marginal. Genomes: all 5.? see exons ↓