OOSP1

Chr 11

oocyte secreted protein 1

NCBI Gene: 255649 ENSG00000284873 UniProt: A8MZH6

Predicted to act upstream of or within blastocyst development. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to act upstream of or within blastocyst development. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

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

0.97

LOEUF

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?

0.97LOEUF

pLI 0.385

Z-score 1.63

OE 0.20 (0.07–0.97)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.22Z-score

OE missense 0.55 (0.42–0.74)

33 obs / 59.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.20 (0.07–0.97)

0≤0.351.4

Missense OE?0.55 (0.42–0.74)

0≤0.61.4

Synonymous OE?0.72

0≤1.21.6

LoF obs/exp: 1 / 4.9Missense obs/exp: 33 / 59.6Syn Z: 1.08

Background carrier burden — how many people carry a rare variant somewhere in OOSP1?

gnomAD v4 · ~275k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

164 rare PASS variants

Rare truncating (LoF)

1 in 1,100

40 rare PASS variants

Rare synonymous (reference)

1 in 420

70 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OOSP1; 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)	~158k	1 in 360	1 in 1,500
South Asian	~31k	1 in 140	1 in 970
African / African American	~21k	1 in 280	1 in 560
Admixed American	~17k	1 in 310	1 in 1,500
European (Finnish)	~17k	1 in 860	≈ 1 in 5,400
East Asian	~16k	1 in 250	1 in 660
Remaining (unassigned)	~15k	1 in 160	1 in 1,100
Ashkenazi Jewish	~10k	1 in 170	none seen
Middle Eastern	~2,039	1 in 390	≈ 1 in 2,000

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): 0 of 5 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 poorly covered. Genomes: all 5.? see exons ↓