NPIPA8

Chr 16

nuclear pore complex interacting protein family member A8

Also known as: LCR16a9, NPIPA7

NCBI Gene: 101059953 ENSG00000214940 UniProt: P0DM63

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 0.061

Z-score -1.36

OE 3.91 (0.39–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.40Z-score

OE missense 2.96 (1.31–1.98)

12 obs / 4.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?3.91 (0.39–1.94)

0≤0.351.4

Missense OE?2.96 (1.31–1.98)

0≤0.61.4

Synonymous OE?4.09

0≤1.21.6

LoF obs/exp: 1 / 0.3Missense obs/exp: 12 / 4.1Syn Z: -2.94

Background carrier burden — how many people carry a rare variant somewhere in NPIPA8?

gnomAD v4 · ~549k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 11,000

2 rare PASS variants

Rare truncating (LoF)

1 in 6,800

6 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in NPIPA8; 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 · 6 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~425k	none seen	1 in 5,100
South Asian	~36k	1 in 2,100	≈ 1 in 9,000
Remaining (unassigned)	~23k	none seen	≈ 1 in 23,000
East Asian	~17k	none seen	1 in 1,500
Admixed American	~14k	1 in 2,200	none seen
African / African American	~14k	≈ 1 in 3,900	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.