OR1Q1

Chr 9

olfactory receptor family 1 subfamily Q member 1

Also known as: HSTPCR106, OR1Q2, OR1Q3, OR9-25, OR9-A, OST226, OST226OR9-A, TPCR106

NCBI Gene: 158131ENSG00000165202UniProt: Q15612

The OR1Q1 protein is an olfactory receptor that binds odorant molecules and initiates G protein-coupled signaling to trigger smell perception. No Mendelian diseases have been definitively associated with OR1Q1 mutations in OMIM or ClinVar databases. This gene shows very low constraint against loss-of-function variants, consistent with most olfactory receptor genes that have redundant functions in odor detection.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.77
Clinical Summary— OR1Q1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic· 39 VUS of 70 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
1.77LOEUF
pLI 0.000
Z-score 0.11
OE 0.95 (0.49–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.15Z-score
OE missense 0.97 (0.85–1.10)
161 obs / 166.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.95 (0.49–1.77)
0≤0.351.4
Missense OE0.97 (0.85–1.10)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 5 / 5.3Missense obs/exp: 161 / 166.6Syn Z: -0.69
DN
0.86top 5%
GOF
0.82top 10%
LOF
0.1697th %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

70 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic1
VUS39
Likely Benign2
Benign1
27
Pathogenic
1
Likely Pathogenic
39
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
1
0
1
VUS
0
36
3
0
39
Likely Benign
0
2
0
0
2
Benign
0
0
1
0
1
Total03832070

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

View in ClinVar →

Protein Context — Lollipop Plot

OR1Q1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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