OR8B4

olfactory receptor family 8 subfamily B member 4, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:124423942-124424871

Previous symbols: [ "OR8B4P" ]

Links

ENSG00000280090 ∙ NCBI:283162 ∙ ∙ HGNC:8473 ∙ Uniprot:Q96RC9 ∙ 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 OR8B4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8B4 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in OR8B4

This is a list of pathogenic ClinVar variants found in the OR8B4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-124424024-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-124424054-G-A		not specified	Uncertain significance (Jul 05, 2023)
11-124424082-G-A		not specified	Uncertain significance (Mar 29, 2023)
11-124424240-A-G		not specified	Uncertain significance (Oct 10, 2023)
11-124424250-G-A			Likely benign (Mar 01, 2023)
11-124424282-A-G		not specified	Uncertain significance (Oct 02, 2023)
11-124424294-A-G		not specified	Uncertain significance (May 02, 2024)
11-124424339-C-T		not specified	Uncertain significance (Feb 23, 2023)
11-124424353-A-C		not specified	Uncertain significance (Mar 11, 2022)
11-124424354-A-G		not specified	Uncertain significance (Jul 15, 2021)
11-124424360-T-C		not specified	Uncertain significance (Jan 23, 2023)
11-124424396-G-T		not specified	Uncertain significance (Sep 26, 2023)
11-124424397-T-C		not specified	Uncertain significance (Jul 06, 2021)
11-124424429-T-C		not specified	Uncertain significance (Apr 04, 2024)
11-124424499-T-G		not specified	Uncertain significance (Dec 19, 2022)
11-124424600-A-G		not specified	Uncertain significance (Apr 23, 2024)
11-124424694-A-T		not specified	Uncertain significance (Jan 23, 2023)
11-124424702-G-C		not specified	Uncertain significance (Mar 07, 2024)
11-124424757-C-G		not specified	Uncertain significance (Nov 18, 2022)
11-124424829-C-T		not specified	Uncertain significance (May 17, 2023)

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)

Recessive Scores

• pRec: 0.0832

Intolerance Scores

• loftool: 0.418
• rvis_EVS: 0.57
• rvis_percentile_EVS: 82.08

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.234

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0841

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr878

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