SPESP1

Chr 15

sperm equatorial segment protein 1

Also known as: ESP, SP-ESP

NCBI Gene: 246777 ENSG00000258484 UniProt: Q6UW49

The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]

Research

The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SPESP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

434 rare PASS variants

Rare truncating (LoF)

1 in 1,200

74 rare PASS variants

Rare synonymous (reference)

1 in 250

145 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SPESP1. 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 250	1 in 2,500
South Asian	~43k	1 in 200	1 in 1,400
Remaining (unassigned)	~30k	1 in 130	1 in 720
European (Finnish)	~27k	1 in 530	≈ 1 in 12,000
Admixed American	~22k	1 in 150	1 in 1,500
African / African American	~21k	1 in 99	1 in 570
East Asian	~20k	1 in 170	1 in 1,000
Ashkenazi Jewish	~13k	1 in 930	none seen
Middle Eastern	~2,884	1 in 140	1 in 480

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 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓