OR52R1

olfactory receptor family 52 subfamily R member 1, the group of Olfactory receptors, family 52

Basic information

Region (hg38): 11:4803432-4804380

Links

ENSG00000279270 ∙ NCBI:119695 ∙ ∙ HGNC:15235 ∙ Uniprot:Q8NGF1 ∙ 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 OR52R1 gene.

• Inborn genetic diseases (11 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR52R1 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			9	3		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	4	0

Variants in OR52R1

This is a list of pathogenic ClinVar variants found in the OR52R1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4803474-C-T		not specified	Likely benign (Jun 09, 2022)
11-4803500-A-T		not specified	Uncertain significance (Apr 07, 2023)
11-4803507-G-A		not specified	Uncertain significance (Oct 27, 2023)
11-4803536-A-G		not specified	Uncertain significance (Jan 30, 2024)
11-4803573-C-T		not specified	Uncertain significance (Mar 28, 2023)
11-4803585-G-A		not specified	Uncertain significance (Apr 27, 2023)
11-4803621-G-A		not specified	Likely benign (Feb 05, 2024)
11-4803717-C-T		not specified	Likely benign (Sep 17, 2021)
11-4803878-C-G		not specified	Uncertain significance (May 05, 2023)
11-4803908-C-A		not specified	Uncertain significance (Apr 25, 2023)
11-4803930-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-4804013-A-G		not specified	Uncertain significance (Dec 15, 2023)
11-4804136-G-A		not specified	Uncertain significance (Oct 17, 2023)
11-4804155-G-A		not specified	Uncertain significance (Mar 28, 2023)
11-4804196-A-G		not specified	Uncertain significance (Jun 06, 2023)
11-4804214-T-G		not specified	Uncertain significance (Sep 07, 2022)
11-4804297-C-T			Likely benign (Nov 01, 2022)
11-4804300-C-G			Likely benign (Nov 01, 2022)
11-4804320-G-A		not specified	Uncertain significance (Dec 15, 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: 0.607
• rvis_EVS: 2.02
• rvis_percentile_EVS: 97.71

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0279

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr584

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