OR10Q1

Chr 11

olfactory receptor family 10 subfamily Q member 1

Also known as: OR11-233

NCBI Gene: 219960 ENSG00000180475 UniProt: Q8NGQ4

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]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.82

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.82LOEUF

pLI 0.000

Z-score -0.13

OE 1.06 (0.57–1.82)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.45Z-score

OE missense 1.09 (0.97–1.22)

219 obs / 201.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.06 (0.57–1.82)

0≤0.351.4

Missense OE?1.09 (0.97–1.22)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 6 / 5.7Missense obs/exp: 219 / 201.0Syn Z: -0.91

Background carrier burden — how many people carry a rare variant somewhere in OR10Q1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

468 rare PASS variants

Rare truncating (LoF)

1 in 260

71 rare PASS variants

Rare synonymous (reference)

1 in 390

220 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OR10Q1; this gene does not show strong loss-of-function constraint by this measure. 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 180	1 in 1,100
South Asian	~43k	1 in 150	1 in 1,100
Remaining (unassigned)	~30k	1 in 110	1 in 330
European (Finnish)	~27k	1 in 250	1 in 950
Admixed American	~22k	1 in 180	1 in 660
African / African American	~21k	1 in 130	1 in 420
East Asian	~20k	1 in 120	1 in 1,000
Ashkenazi Jewish	~13k	1 in 340	none seen
Middle Eastern	~2,884	1 in 190	≈ 1 in 720

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 ↓