OR8U3

olfactory receptor family 8 subfamily U member 3, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:56417258-56418232

Previous symbols: [ "OR5R1P", "OR5R1" ]

Links

ENSG00000279961 ∙ NCBI:219479 ∙ ∙ HGNC:14841 ∙ Uniprot:Q8NH85 ∙ 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 OR8U3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8U3 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			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	0

Variants in OR8U3

This is a list of pathogenic ClinVar variants found in the OR8U3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56417274-A-G		not specified	Uncertain significance (Mar 07, 2023)
11-56417293-T-C		not specified	Uncertain significance (Mar 06, 2023)
11-56417316-T-C		not specified	Uncertain significance (Jan 09, 2024)
11-56417334-G-A		not specified	Uncertain significance (Dec 15, 2022)
11-56417442-G-A		not specified	Uncertain significance (May 15, 2024)
11-56417445-T-C		not specified	Uncertain significance (Aug 30, 2021)
11-56417478-T-A		not specified	Uncertain significance (May 01, 2024)
11-56417480-G-T		not specified	Uncertain significance (May 01, 2024)
11-56417498-C-T		not specified	Uncertain significance (Sep 20, 2023)
11-56417544-G-C		not specified	Uncertain significance (May 03, 2023)
11-56417548-G-A		not specified	Uncertain significance (May 27, 2022)
11-56417571-A-G		not specified	Uncertain significance (Nov 09, 2023)
11-56417611-T-A		not specified	Uncertain significance (Nov 18, 2022)
11-56417612-C-A		not specified	Uncertain significance (Apr 22, 2022)
11-56417622-C-A		not specified	Uncertain significance (May 26, 2022)
11-56417636-T-C		not specified	Uncertain significance (Aug 08, 2023)
11-56417656-G-A		not specified	Uncertain significance (Oct 16, 2023)
11-56417737-G-T		not specified	Uncertain significance (May 09, 2023)
11-56417764-G-C		not specified	Uncertain significance (Jan 31, 2024)
11-56417774-G-C		not specified	Uncertain significance (Mar 07, 2024)
11-56417784-A-C		not specified	Uncertain significance (Aug 08, 2022)
11-56417787-T-C		not specified	Uncertain significance (Jul 05, 2023)
11-56417860-C-T		not specified	Uncertain significance (Jun 14, 2023)
11-56417867-G-C		not specified	Uncertain significance (Oct 27, 2022)
11-56417872-C-T		not specified	Uncertain significance (Oct 13, 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)

Intolerance Scores

• loftool: 0.840
• rvis_EVS: 3.33
• rvis_percentile_EVS: 99.43

Haploinsufficiency Scores

• pHI: 0.153
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000672

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1038-ps

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