OR1G1

Chr 17

olfactory receptor family 1 subfamily G member 1

Also known as: OR17-130, OR17-209, OR1G2

NCBI Gene: 8390ENSG00000183024UniProt: P47890

OR1G1 encodes an olfactory receptor that recognizes and transduces odorant signals through G-protein-coupled receptor pathways in the nose. This gene is not constrained against loss-of-function variants and is not currently associated with any known Mendelian disease or clinical phenotype.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.82
Clinical Summary— OR1G1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
42 unique Pathogenic / Likely Pathogenic· 47 VUS of 93 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
1.82LOEUF
pLI 0.000
Z-score -0.05
OE 1.02 (0.52–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.01Z-score
OE missense 1.00 (0.88–1.14)
169 obs / 168.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.02 (0.52–1.82)
0≤0.351.4
Missense OE1.00 (0.88–1.14)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 5 / 4.9Missense obs/exp: 169 / 168.6Syn Z: -0.52
DN
0.85top 5%
GOF
0.81top 10%
LOF
0.1598th %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

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic2
VUS47
Likely Benign4
40
Pathogenic
2
Likely Pathogenic
47
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
40
0
40
Likely Pathogenic
0
0
2
0
2
VUS
0
39
8
0
47
Likely Benign
0
1
3
0
4
Benign
0
0
0
0
0
Total04053093

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

View in ClinVar →

Protein Context — Lollipop Plot

OR1G1 · 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 →
Clinical Literature
Open Research Assistant →
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 1 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