NXF5

Chr X

nuclear RNA export factor 5

The protein is potentially involved in exporting mRNA from the nucleus to the cytoplasm and may participate in polarized transport and localization of mRNA in neurons. Most transcript variants of this gene are subject to nonsense-mediated decay and may not produce functional proteins in vivo. The gene shows very low constraint against loss-of-function variants, and no established human disease associations have been definitively linked to NXF5 mutations.

Summary from RefSeq, UniProt
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0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.69
LOEUF
Mechanism
Clinical SummaryNXF5
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.69LOEUF
pLI 0.000
Z-score -0.63
OE 1.17 (0.811.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.37Z-score
OE missense 1.09 (0.951.26)
141 obs / 129.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.17 (0.811.69)
00.351.4
Missense OE1.09 (0.951.26)
00.61.4
Synonymous OE1.21
01.21.6
LoF obs/exp: 19 / 16.3Missense obs/exp: 141 / 129.0Syn Z: -1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NXF5 · 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.

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Clinical Literature
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