LURAP1L

Chr 9

leucine rich adaptor protein 1 like

Also known as: C9orf150, HYST0841, LRAP35b, bA3L8.2

NCBI Gene: 286343 ENSG00000153714 UniProt: Q8IV03 OMIM: 616130

The LURAP1L protein is predicted to positively regulate canonical NF-kappaB signal transduction. This gene has not been definitively associated with human disease, and functional studies are needed to establish its clinical relevance. The gene appears to tolerate loss-of-function variants well based on population genetics data.

OMIM ResearchSummary from RefSeq

Predicted to be involved in positive regulation of canonical NF-kappaB signal transduction. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.38

Clinical Summary— LURAP1L

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Population Constraint (gnomAD)

Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 62 VUS of 67 total submissions

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?

1.38LOEUF

pLI 0.025

Z-score 1.00

OE 0.54 (0.25–1.38)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.13Z-score

OE missense 1.28 (1.13–1.46)

163 obs / 127.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.54 (0.25–1.38)

0≤0.351.4

Missense OE?1.28 (1.13–1.46)

0≤0.61.4

Synonymous OE?1.27

0≤1.21.6

LoF obs/exp: 3 / 5.5Missense obs/exp: 163 / 127.2Syn Z: -1.53

This gene — mechanism propensity

0.7035th %ile

GOF

0.6735th %ile

LOF

0.4726th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction 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.

ClinVar Variant Classifications

67 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS62

Likely Benign1

Likely Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	1	0	1
VUS	59	3	62
Likely Benign	1	0	1
Benign	0	0	0
Total	61	3	64

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

View in ClinVar →

116 pathogenic / likely-pathogenic (of 131) ClinVar copy-number / structural variants overlap LURAP1L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →