OR7G3

olfactory receptor family 7 subfamily G member 3, the group of Olfactory receptors, family 7

Basic information

Region (hg38): 19:9126011-9126950

Links

ENSG00000170920 ∙ NCBI:390883 ∙ ∙ HGNC:8467 ∙ Uniprot:Q8NG95 ∙ 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 OR7G3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7G3 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			12	2		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	3	0

Variants in OR7G3

This is a list of pathogenic ClinVar variants found in the OR7G3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9126023-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-9126120-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-9126131-C-G		not specified	Uncertain significance (Dec 02, 2021)
19-9126139-C-T		not specified	Uncertain significance (Feb 16, 2023)
19-9126257-C-G		not specified	Uncertain significance (Jun 28, 2023)
19-9126291-T-C			Likely benign (Aug 01, 2022)
19-9126378-A-T		not specified	Uncertain significance (May 15, 2023)
19-9126409-A-G		not specified	Uncertain significance (Nov 09, 2023)
19-9126412-T-A		not specified	Uncertain significance (Mar 20, 2024)
19-9126500-C-T		not specified	Likely benign (Oct 05, 2023)
19-9126517-A-T		not specified	Uncertain significance (Mar 01, 2023)
19-9126567-G-C		not specified	Uncertain significance (Dec 19, 2022)
19-9126575-T-C		not specified	Uncertain significance (Dec 14, 2023)
19-9126656-T-A		not specified	Uncertain significance (Feb 28, 2023)
19-9126716-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-9126841-G-A		not specified	Likely benign (Nov 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7G3	protein_coding	protein_coding	ENST00000305444	1	939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00228	164	164	1.00	0.00000799	2016
Missense in Polyphen		40	39.403	1.0152		551
Synonymous	-0.528	79	73.3	1.08	0.00000394	680
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.619
• rvis_EVS: 1.26
• rvis_percentile_EVS: 93.56

Haploinsufficiency Scores

• pHI: 0.0660
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0906

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Olfr834

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;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