NUP43

Chr 6

nucleoporin 43

Also known as: bA350J20.1, p42

NCBI Gene: 348995ENSG00000120253UniProt: Q8NFH3

Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
—
Mechanism
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?
0.84LOEUF
pLI 0.000
Z-score 2.12
OE 0.51 (0.32–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.35Z-score
OE missense 0.93 (0.82–1.05)
184 obs / 198.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.32–0.84)
0≤0.351.4
Missense OE?0.93 (0.82–1.05)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 11 / 21.7Missense obs/exp: 184 / 198.0Syn Z: 1.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NUP43 · 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