SPATA31A7

Chr 9

SPATA31 subfamily A member 7

Also known as: AEP1, C9orf36, C9orf36A, FAM75A4, FAM75A7, SPATA31A4

NCBI Gene: 26165 ENSG00000276040 UniProt: Q8IWB4 OMIM: 616584

The protein is predicted to be involved in cell differentiation and spermatogenesis and is located in cellular membranes. SPATA31A7 mutations have not been clearly established as a cause of human disease based on the available information. The inheritance pattern and clinical phenotypes associated with this gene remain to be determined.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.003

Z-score -0.99

OE 1.84 (0.63–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.56Z-score

OE missense 1.27 (0.99–1.64)

42 obs / 33.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.84 (0.63–1.94)

0≤0.351.4

Missense OE?1.27 (0.99–1.64)

0≤0.61.4

Synonymous OE?1.70

0≤1.21.6

LoF obs/exp: 3 / 1.6Missense obs/exp: 42 / 33.0Syn Z: -1.88

Background carrier burden — how many people carry a rare variant somewhere in SPATA31A7?

gnomAD v4 · ~722k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

45 rare PASS variants

Rare truncating (LoF)

1 in 1,500

20 rare PASS variants

Rare synonymous (reference)

1 in 420

25 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SPATA31A7. 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)	~551k	1 in 150	1 in 1,300
South Asian	~42k	1 in 460	1 in 3,600
Remaining (unassigned)	~30k	1 in 270	≈ 1 in 9,400
European (Finnish)	~26k	1 in 330	none seen
Admixed American	~21k	1 in 230	1 in 1,600
African / African American	~20k	1 in 180	1 in 3,400
East Asian	~19k	1 in 350	≈ 1 in 7,800
Ashkenazi Jewish	~13k	≈ 1 in 5,700	none seen
Middle Eastern	~2,728	≈ 1 in 640	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): 1 of 4 coding exons well covered in gnomAD exomes; exons 1, 4 poorly covered; exon 2 marginal. Genomes: 0 of 4 (exons 1, 2, 3, 4 below).? see exons ↓