OR6Q1

Chr 11

olfactory receptor family 6 subfamily Q member 1

Also known as: OR11-226

NCBI Gene: 219952 ENSG00000279051 UniProt: Q8NGQ2

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.44LOEUF

pLI 0.002

Z-score 0.77

OE 0.69 (0.36–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.25Z-score

OE missense 1.05 (0.93–1.20)

172 obs / 163.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.69 (0.36–1.44)

0≤0.351.4

Missense OE?1.05 (0.93–1.20)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 5 / 7.2Missense obs/exp: 172 / 163.1Syn Z: -0.31

Background carrier burden — how many people carry a rare variant somewhere in OR6Q1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 81

416 rare PASS variants

Rare truncating (LoF)

1 in 1,500

54 rare PASS variants

Rare synonymous (reference)

1 in 390

159 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR6Q1. 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 150	1 in 2,300
South Asian	~43k	1 in 110	1 in 1,900
Remaining (unassigned)	~30k	1 in 67	1 in 510
European (Finnish)	~27k	1 in 990	1 in 2,200
Admixed American	~22k	1 in 120	1 in 900
African / African American	~21k	1 in 140	1 in 560
East Asian	~20k	1 in 120	1 in 4,000
Ashkenazi Jewish	~13k	1 in 770	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 130	≈ 1 in 1,400

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 ↓