LRRN3

Chr 7

leucine rich repeat neuronal 3

NCBI Gene: 54674ENSG00000173114UniProt: Q9H3W5
0
ClinVar variants
0
Pathogenic / LP
0.03
pLI score
0
Active trials
Clinical Summary— LRRN3
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.32) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.63LOEUF
pLI 0.032
Z-score 2.75
OE 0.32 (0.17–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.04Z-score
OE missense 0.85 (0.77–0.93)
311 obs / 367.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.32 (0.17–0.63)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.77–0.93)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 6 / 18.9Missense obs/exp: 311 / 367.3Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRRN3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Integrative eQTL and Mendelian randomization analysis reveals key genetic markers in mesothelioma.
Li J et al.·Respir Res
2025
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.
Hutcheson HB et al.·BMC Med Genet
2004
A Robust and Generalizable Immune-Related Signature for Sepsis Diagnostics.
Yang Y et al.·IEEE/ACM Trans Comput Biol Bioinform
2022
Accelerated aging in HIV/AIDS: novel biomarkers of senescent human CD8+ T cells.
Chou JP et al.·PLoS One
2013
Phenotype prediction using biologically interpretable neural networks on multi-cohort multi-omics data.
van Hilten A et al.·NPJ Syst Biol Appl
2024Cohort
Prognostication of a 13-immune-related-gene signature in patients with early triple-negative breast cancer.
Kim JY et al.·Breast Cancer Res Treat
2020Cohort
Candidate genes associated with malignant pheochromocytomas by genome-wide expression profiling.
Suh I et al.·Ann Surg
2009
A whole blood gene expression-based signature for smoking status.
Beineke P et al.·BMC Med Genomics
2012
The Effect of Different Case Definitions of Current Smoking on the Discovery of Smoking-Related Blood Gene Expression Signatures in Chronic Obstructive Pulmonary Disease.
Obeidat M et al.·Nicotine Tob Res
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools