OR6Q1

olfactory receptor family 6 subfamily Q member 1, the group of Olfactory receptors, family 6

Basic information

Region (hg38): 11:58030952-58031906

Links

ENSG00000279051 ∙ NCBI:219952 ∙ ∙ HGNC:15302 ∙ Uniprot:Q8NGQ2 ∙ 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 OR6Q1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6Q1 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			18	1		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	18	2	0

Variants in OR6Q1

This is a list of pathogenic ClinVar variants found in the OR6Q1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-58030960-C-T		not specified	Uncertain significance (Nov 03, 2023)
11-58031001-A-T		not specified	Uncertain significance (Oct 06, 2022)
11-58031058-A-G		not specified	Uncertain significance (Aug 08, 2022)
11-58031069-C-A		not specified	Uncertain significance (Jan 04, 2022)
11-58031124-C-T		not specified	Likely benign (Sep 01, 2021)
11-58031125-G-A		not specified	Uncertain significance (Sep 07, 2022)
11-58031169-A-G		not specified	Uncertain significance (Jul 20, 2021)
11-58031190-G-A		not specified	Uncertain significance (May 07, 2024)
11-58031209-G-T		not specified	Uncertain significance (Sep 17, 2021)
11-58031220-G-T		not specified	Uncertain significance (Nov 28, 2023)
11-58031289-G-A		not specified	Uncertain significance (Sep 30, 2021)
11-58031316-A-G		not specified	Uncertain significance (Aug 12, 2022)
11-58031472-G-A		not specified	Uncertain significance (Oct 14, 2023)
11-58031527-C-T		not specified	Uncertain significance (Mar 11, 2024)
11-58031628-G-A		not specified	Uncertain significance (Dec 21, 2022)
11-58031643-C-G		not specified	Uncertain significance (Mar 15, 2024)
11-58031722-G-T		not specified	Uncertain significance (Jun 26, 2023)
11-58031758-C-T		not specified	Uncertain significance (Jun 05, 2024)
11-58031771-C-A		not specified	Uncertain significance (Feb 26, 2024)
11-58031781-G-A		not specified	Uncertain significance (Aug 26, 2022)
11-58031805-G-A		not specified	Uncertain significance (Dec 02, 2022)
11-58031867-G-T			Likely benign (Apr 01, 2022)
11-58031898-G-C		not specified	Uncertain significance (Aug 30, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.702
• rvis_EVS: 2.04
• rvis_percentile_EVS: 97.74

Haploinsufficiency Scores

• pHI: 0.0356
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00685

Gene Damage Prediction

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

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