OR8S1

olfactory receptor family 8 subfamily S member 1, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 12:48525632-48526570

Links

ENSG00000284723 ∙ NCBI:341568 ∙ ∙ HGNC:19628 ∙ Uniprot:Q8NH09 ∙ 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 OR8S1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8S1 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			19			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	19	0	0

Variants in OR8S1

This is a list of pathogenic ClinVar variants found in the OR8S1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-48525672-T-C		not specified	Uncertain significance (Feb 03, 2022)
12-48525675-T-G		not specified	Uncertain significance (Jun 07, 2023)
12-48525690-A-T		not specified	Uncertain significance (Nov 18, 2022)
12-48525701-C-T		not specified	Uncertain significance (Mar 19, 2024)
12-48525803-C-T		not specified	Uncertain significance (Oct 20, 2021)
12-48525834-T-A		not specified	Uncertain significance (Feb 13, 2024)
12-48526016-C-G		not specified	Uncertain significance (Mar 01, 2024)
12-48526045-A-C		not specified	Uncertain significance (Dec 19, 2022)
12-48526076-T-C		not specified	Uncertain significance (May 18, 2023)
12-48526157-C-A		not specified	Uncertain significance (Oct 10, 2023)
12-48526208-T-C		not specified	Uncertain significance (Sep 12, 2023)
12-48526259-A-C		not specified	Uncertain significance (Feb 15, 2023)
12-48526270-G-C		not specified	Uncertain significance (Sep 27, 2022)
12-48526304-A-T		not specified	Uncertain significance (Nov 17, 2022)
12-48526314-T-A		not specified	Uncertain significance (Nov 03, 2023)
12-48526314-T-G		not specified	Uncertain significance (May 30, 2024)
12-48526341-C-T		not specified	Uncertain significance (Dec 02, 2022)
12-48526356-C-A		not specified	Uncertain significance (Aug 02, 2022)
12-48526395-G-T		not specified	Uncertain significance (Jan 08, 2024)
12-48526415-C-A		not specified	Uncertain significance (May 14, 2024)
12-48526448-T-C		not specified	Uncertain significance (Jun 10, 2024)

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: 0.0522

Intolerance Scores

• loftool: 0.873
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.57

Haploinsufficiency Scores

• pHI: 0.0463
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0118

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	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