NUP107

Chr 12AR

nucleoporin 107

Also known as: GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7

NCBI Gene: 57122ENSG00000111581UniProt: P57740

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

?Ovarian dysgenesis 6MIM #618078
AR
Galloway-Mowat syndrome 7MIM #618348
AR
Nephrotic syndrome, type 11MIM #616730
AR
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
17
Pubs (1 yr)
1.9
Missense Z
0.57
LOEUF
Clinical Summary— NUP107
⚡
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

gnomAD
Moderate LoF intolerance
LoF Constraint
0.57LOEUF
pLI 0.000
Z-score 4.34
OE 0.41 (0.30–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.89Z-score
OE missense 0.76 (0.70–0.83)
373 obs / 490.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.30–0.57)
0≤0.351.4
Missense OE0.76 (0.70–0.83)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 26 / 63.3Missense obs/exp: 373 / 490.5Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

NUP107 · protein map & ClinVar variants

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

Gene2Phenotype Curations

NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome)

strong
ARLoss Of FunctionAbsent Gene Product, Altered Gene Product Structure, Decreased Gene Product Level
Dev. Disorders
G2P ↗
splice region variantframeshift variantmissense variant

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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