CCDC9B

Chr 15

coiled-coil domain containing 9B

Also known as: C15orf52

NCBI Gene: 388115 ENSG00000188549 UniProt: Q6ZUT6

Enables RNA binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables RNA binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

—

Mechanism

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?

1.14LOEUF

pLI 0.000

Z-score 0.96

OE 0.81 (0.58–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.58Z-score

OE missense 1.09 (1.00–1.19)

344 obs / 315.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.81 (0.58–1.14)

0≤0.351.4

Missense OE?1.09 (1.00–1.19)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 23 / 28.5Missense obs/exp: 344 / 315.2Syn Z: -0.30

Background carrier burden — how many people carry a rare variant somewhere in CCDC9B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 73

699 rare PASS variants

Rare truncating (LoF)

1 in 370

127 rare PASS variants

Rare synonymous (reference)

1 in 160

253 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC9B. 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 92	1 in 370
South Asian	~43k	1 in 58	1 in 300
Remaining (unassigned)	~30k	1 in 69	1 in 630
European (Finnish)	~27k	1 in 310	1 in 980
Admixed American	~22k	1 in 78	1 in 1,000
African / African American	~21k	1 in 49	1 in 570
East Asian	~20k	1 in 89	1 in 1,300
Ashkenazi Jewish	~13k	1 in 340	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 58	≈ 1 in 710

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): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓