NUP88

Chr 17AR

nucleoporin 88

Also known as: FADS4

NCBI Gene: 4927ENSG00000108559UniProt: Q99567OMIM: 602552

The protein is a component of the nuclear pore complex that regulates macromolecular transport between the nucleus and cytoplasm. Mutations cause fetal akinesia deformation sequence 4, an autosomal recessive condition characterized by decreased fetal movement and resulting deformations. The gene shows tolerance to loss-of-function variants (low pLI score), which is consistent with the recessive inheritance pattern observed clinically.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.691 OMIM phenotype
Clinical Summary— NUP88
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
27 unique Pathogenic / Likely Pathogenic· 123 VUS of 202 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.000
Z-score 3.18
OE 0.47 (0.33–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.53Z-score
OE missense 1.07 (0.99–1.16)
436 obs / 406.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.47 (0.33–0.69)
0≤0.351.4
Missense OE1.07 (0.99–1.16)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 20 / 42.3Missense obs/exp: 436 / 406.2Syn Z: -0.23

ClinVar Variant Classifications

202 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic2
VUS123
Likely Benign16
Benign11
25
Pathogenic
2
Likely Pathogenic
123
VUS
16
Likely Benign
11
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
2
22
0
25
Likely Pathogenic
1
0
1
0
2
VUS
0
115
7
1
123
Likely Benign
0
9
4
3
16
Benign
0
1
6
4
11
Total2127408177

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NUP88 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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