OR10W1

Chr 11

olfactory receptor family 10 subfamily W member 1

Also known as: OR10W1P, OR10W1Q, OR11-236, UNQ6469

NCBI Gene: 81341 ENSG00000172772 UniProt: Q8NGF6

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

1.59

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.59LOEUF

pLI 0.016

Z-score 0.68

OE 0.66 (0.30–1.59)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.46Z-score

OE missense 1.10 (0.97–1.25)

179 obs / 162.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.66 (0.30–1.59)

0≤0.351.4

Missense OE?1.10 (0.97–1.25)

0≤0.61.4

Synonymous OE?1.15

0≤1.21.6

LoF obs/exp: 3 / 4.6Missense obs/exp: 179 / 162.5Syn Z: -0.99

Background carrier burden — how many people carry a rare variant somewhere in OR10W1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

444 rare PASS variants

Rare truncating (LoF)

1 in 700

43 rare PASS variants

Rare synonymous (reference)

1 in 190

161 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OR10W1; 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 840
South Asian	~43k	1 in 150	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 130	1 in 940
European (Finnish)	~27k	1 in 240	≈ 1 in 13,000
Admixed American	~22k	1 in 160	1 in 860
African / African American	~21k	1 in 130	1 in 470
East Asian	~20k	1 in 120	1 in 1,100
Ashkenazi Jewish	~13k	1 in 990	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 220	≈ 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 ↓