CWC15

Chr 11

CWC15 spliceosome associated protein

Also known as: AD002, C11orf5, Cwf15, HSPC148, ORF5

NCBI Gene: 51503 ENSG00000150316 UniProt: Q9P013 OMIM: 621501

Predicted to enable RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nuclear speck. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.26LOEUF

pLI 0.978

Z-score 3.16

OE 0.00 (0.00–0.26)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.12Z-score

OE missense 0.42 (0.33–0.54)

45 obs / 106.5 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.26)

0≤0.351.4

Missense OE?0.42 (0.33–0.54)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 0 / 11.7Missense obs/exp: 45 / 106.5Syn Z: -0.34

Background carrier burden — how many people carry a rare variant somewhere in CWC15?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 880

208 rare PASS variants

Rare truncating (LoF)

1 in 9,400

28 rare PASS variants

Rare synonymous (reference)

1 in 860

99 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CWC15. 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 860	1 in 15,000
South Asian	~43k	1 in 1,400	1 in 8,200
Remaining (unassigned)	~30k	1 in 1,200	≈ 1 in 15,000
European (Finnish)	~27k	1 in 5,200	1 in 3,300
Admixed American	~22k	1 in 940	1 in 2,800
African / African American	~21k	1 in 1,000	1 in 2,700
East Asian	~20k	1 in 400	≈ 1 in 6,400
Ashkenazi Jewish	~13k	≈ 1 in 4,300	1 in 1,700
Middle Eastern	~2,884	1 in 290	none seen

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): 5 of 6 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 6.? see exons ↓