OR8G1

olfactory receptor family 8 subfamily G member 1, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:124241095-124254364

Previous symbols: [ "OR8G1P" ]

Links

ENSG00000197849 ∙ NCBI:26494 ∙ ∙ HGNC:8484 ∙ Uniprot:Q15617 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR8G1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8G1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	3	0

Variants in OR8G1

This is a list of pathogenic ClinVar variants found in the OR8G1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-124249731-A-G		not specified	Uncertain significance (Jul 19, 2022)
11-124249784-G-A		not specified	Uncertain significance (May 02, 2024)
11-124249790-G-A		not specified	Uncertain significance (Oct 25, 2022)
11-124249793-G-A		not specified	Uncertain significance (Jan 27, 2022)
11-124249847-C-G		not specified	Uncertain significance (Feb 28, 2024)
11-124249850-A-G		not specified	Uncertain significance (Dec 20, 2023)
11-124249907-A-G		not specified	Uncertain significance (Jun 29, 2023)
11-124249947-T-C		not specified	Uncertain significance (Aug 10, 2021)
11-124249962-A-C		not specified	Uncertain significance (May 17, 2023)
11-124249970-A-G		not specified	Uncertain significance (Feb 27, 2024)
11-124249984-C-A		not specified	Uncertain significance (Feb 27, 2024)
11-124249991-G-A		not specified	Likely benign (Jan 09, 2024)
11-124250040-G-A		not specified	Uncertain significance (Jan 04, 2024)
11-124250045-A-G		not specified	Likely benign (Jul 28, 2021)
11-124250075-G-A		not specified	Uncertain significance (Dec 14, 2022)
11-124250078-A-C		not specified	Uncertain significance (Sep 27, 2024)
11-124250108-A-C		not specified	Uncertain significance (Jul 22, 2024)
11-124250177-T-C		not specified	Uncertain significance (Oct 04, 2022)
11-124250200-C-G		not specified	Uncertain significance (Sep 06, 2023)
11-124250234-C-G		not specified	Uncertain significance (Feb 07, 2023)
11-124250271-T-C		not specified	Uncertain significance (Dec 07, 2021)
11-124250380-C-G			Likely benign (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR8G1	polymorphic_pseudogene	protein_coding	ENST00000341493	3	15341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00357	0.642	31783	33145	60344	125272	0.496

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.762	187	160	1.17	0.00000770	2040
Missense in Polyphen		44	48.335	0.91032		676
Synonymous	-0.0345	64	63.6	1.01	0.00000322	624
Loss of Function	0.526	4	5.31	0.754	2.22e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.975	0.971
Ashkenazi Jewish	0.511	0.514
East Asian	0.585	0.565
Finnish	0.578	0.568
European (Non-Finnish)	0.540	0.534
Middle Eastern	0.585	0.565
South Asian	0.299	0.295
Other	0.522	0.512

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);GPCRs, Other;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

• pHI: 0.0867
• hipred: N
• hipred_score: 0.112

Mouse Genome Informatics

• Gene name: Olfr967

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity;odorant binding