NUP210L

Chr 1AR

nucleoporin 210 like

Also known as: SPGF97

NCBI Gene: 91181 ENSG00000143552 UniProt: Q5VU65 OMIM: 621033

Predicted to act upstream of or within Sertoli cell development and spermatid development. Predicted to be located in membrane. Predicted to be part of nuclear pore. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 0.381 OMIM phenotype

Clinical Summary— NUP210L

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.38LOEUF

pLI 0.000

Z-score 6.54

OE 0.27 (0.20–0.38)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.68Z-score

OE missense 0.76 (0.72–0.81)

774 obs / 1013.7 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.27 (0.20–0.38)

0≤0.351.4

Missense OE?0.76 (0.72–0.81)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 26 / 94.7Missense obs/exp: 774 / 1013.7Syn Z: 0.77

This gene — mechanism propensity

0.6357th %ile

GOF

0.4678th %ile

LOF

0.4233th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.