OR1B1

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

Basic information

Region (hg38): 9:122628125-122657627

Links

ENSG00000280094 ∙ NCBI:347169 ∙ ∙ HGNC:8181 ∙ Uniprot:Q8NGR6 ∙ 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 OR1B1 gene.

• Inborn genetic diseases (13 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1B1 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						0
missense			12	1		13
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	1

Variants in OR1B1

This is a list of pathogenic ClinVar variants found in the OR1B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-122628599-A-G		not specified	Uncertain significance (May 10, 2022)
9-122628619-G-A		not specified	Uncertain significance (Jul 20, 2022)
9-122628622-C-T		not specified	Uncertain significance (Apr 25, 2022)
9-122628706-T-G		not specified	Uncertain significance (Jun 24, 2022)
9-122628777-C-T		not specified	Uncertain significance (Jan 23, 2023)
9-122628878-T-G		not specified	Uncertain significance (Jan 30, 2024)
9-122628895-A-G		not specified	Uncertain significance (Apr 04, 2024)
9-122628914-C-G		not specified	Uncertain significance (Jun 17, 2024)
9-122628971-G-A		not specified	Uncertain significance (Mar 14, 2023)
9-122628973-C-T		not specified	Uncertain significance (Mar 25, 2024)
9-122628974-G-A		not specified	Uncertain significance (May 03, 2023)
9-122629026-C-G		not specified	Uncertain significance (Mar 20, 2024)
9-122629043-C-T		not specified	Likely benign (Dec 02, 2022)
9-122629065-G-T		not specified	Uncertain significance (Apr 25, 2022)
9-122629111-C-T		not specified	Uncertain significance (Dec 22, 2023)
9-122629122-C-T		not specified	Uncertain significance (Mar 07, 2023)
9-122629247-C-T		not specified	Uncertain significance (Dec 19, 2022)
9-122629252-G-T		not specified	Uncertain significance (Jun 05, 2024)
9-122629491-C-CA		not specified	Benign (Mar 28, 2016)
9-122629501-G-A		not specified	Uncertain significance (Jun 19, 2024)
9-122629519-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: 0.703
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.52

Haploinsufficiency Scores

• pHI: 0.0529
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000384

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr362

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