OR6X1

Chr 11

olfactory receptor family 6 subfamily X member 1

Also known as: OR11-270

NCBI Gene: 390260ENSG00000221931UniProt: Q8NH79

OR6X1 encodes an olfactory receptor that binds odorant molecules and initiates G-protein coupled signaling to trigger smell perception. This gene is not currently associated with any known human genetic diseases. The gene shows no evolutionary constraint against loss-of-function variants, which is typical for olfactory receptor genes that exist in large redundant families.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
52
P/LP submissions
0%
P/LP missense
1.54
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— OR6X1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 unique Pathogenic / Likely Pathogenic· 45 VUS of 101 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.54LOEUF
pLI 0.001
Z-score 0.59
OE 0.75 (0.39–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.44Z-score
OE missense 0.90 (0.79–1.03)
151 obs / 167.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.75 (0.39–1.54)
0≤0.351.4
Missense OE0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 5 / 6.6Missense obs/exp: 151 / 167.1Syn Z: -0.05
DN
0.78top 25%
GOF
0.78top 25%
LOF
0.1994th %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

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic50
Likely Pathogenic2
VUS45
Likely Benign4
50
Pathogenic
2
Likely Pathogenic
45
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
50
0
50
Likely Pathogenic
0
0
2
0
2
VUS
0
41
4
0
45
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total045560101

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

View in ClinVar →

Protein Context — Lollipop Plot

OR6X1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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

No open access results found

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