NPIPA5

Chr 16

nuclear pore complex interacting protein family member A5

Also known as: NPIP

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.86
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.108
Z-score 0.27
OE 0.75 (0.231.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.95Z-score
OE missense 1.62 (1.401.86)
128 obs / 79.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.75 (0.231.86)
00.351.4
Missense OE?1.62 (1.401.86)
00.61.4
Synonymous OE?1.42
01.21.6
LoF obs/exp: 1 / 1.3Missense obs/exp: 128 / 79.2Syn Z: -1.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NPIPA5 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →