OR8K3

Chr 11

olfactory receptor family 8 subfamily K member 3 (gene/pseudogene)

Also known as: OR11-181

NCBI Gene: 219473 ENSG00000280314 UniProt: Q8NH51

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, Jun 2015]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.89

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.89LOEUF

pLI 0.000

Z-score -0.69

OE 1.30 (0.74–1.89)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.11Z-score

OE missense 1.24 (1.11–1.40)

202 obs / 162.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.30 (0.74–1.89)

0≤0.351.4

Missense OE?1.24 (1.11–1.40)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 8 / 6.2Missense obs/exp: 202 / 162.3Syn Z: -1.16

Background carrier burden — how many people carry a rare variant somewhere in OR8K3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

490 rare PASS variants

Rare truncating (LoF)

1 in 530

76 rare PASS variants

Rare synonymous (reference)

1 in 230

181 rare PASS variants

Rare missense and truncating variants are carried at similar rates in OR8K3; 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 140	1 in 490
South Asian	~43k	1 in 160	1 in 430
Remaining (unassigned)	~30k	1 in 84	1 in 460
European (Finnish)	~27k	1 in 790	≈ 1 in 13,000
Admixed American	~22k	1 in 110	1 in 700
African / African American	~21k	1 in 110	1 in 2,400
East Asian	~20k	1 in 230	1 in 990
Ashkenazi Jewish	~13k	1 in 350	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	1 in 480

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 ↓