NPIPA7

Chr 16

nuclear pore complex interacting protein family member A7

Also known as: NPIPA8

NCBI Gene: 101059938ENSG00000214967UniProt: E9PJI5

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
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?
1.94LOEUF
pLI 0.061
Z-score -1.39
OE 4.01 (0.39–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.32Z-score
OE missense 1.49 (0.70–1.93)
5 obs / 3.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?4.01 (0.39–1.94)
0≤0.351.4
Missense OE?1.49 (0.70–1.93)
0≤0.61.4
Synonymous OE?3.25
0≤1.21.6
LoF obs/exp: 1 / 0.2Missense obs/exp: 5 / 3.4Syn Z: -1.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NPIPA7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients