OR6X1

Chr 11

olfactory receptor family 6 subfamily X member 1

Also known as: OR11-270

NCBI Gene: 390260 ENSG00000221931 UniProt: 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.

ResearchSummary from RefSeq, UniProt

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

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 OE?0.75 (0.39–1.54)

0≤0.351.4

Missense OE?0.90 (0.79–1.03)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 5 / 6.6Missense obs/exp: 151 / 167.1Syn Z: -0.05

Background carrier burden — how many people carry a rare variant somewhere in OR6X1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

379 rare PASS variants

Rare truncating (LoF)

1 in 1,100

48 rare PASS variants

Rare synonymous (reference)

1 in 210

168 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR6X1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 240	1 in 1,300
South Asian	~43k	1 in 190	1 in 1,500
Remaining (unassigned)	~30k	1 in 69	1 in 1,100
European (Finnish)	~27k	1 in 430	none seen
Admixed American	~22k	1 in 100	1 in 2,500
African / African American	~21k	1 in 120	1 in 1,700
East Asian	~20k	1 in 250	1 in 860
Ashkenazi Jewish	~13k	1 in 320	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓