OR6S1

olfactory receptor family 6 subfamily S member 1, the group of Olfactory receptors, family 6

Basic information

Region (hg38): 14:20640696-20641691

Links

ENSG00000181803 ∙ NCBI:341799 ∙ ∙ HGNC:15363 ∙ Uniprot:Q8NH40 ∙ 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 OR6S1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6S1 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			27	3		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	27	3	0

Variants in OR6S1

This is a list of pathogenic ClinVar variants found in the OR6S1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20640707-C-G		not specified	Uncertain significance (Jun 24, 2022)
14-20640749-C-T		not specified	Uncertain significance (Jan 08, 2024)
14-20640772-A-T		not specified	Uncertain significance (Apr 09, 2024)
14-20640805-C-A		not specified	Uncertain significance (Mar 16, 2022)
14-20640805-C-T		not specified	Uncertain significance (Aug 02, 2022)
14-20640850-G-A		not specified	Uncertain significance (Jan 23, 2025)
14-20640871-T-A		not specified	Uncertain significance (Jan 15, 2025)
14-20640895-G-A		not specified	Uncertain significance (Dec 10, 2024)
14-20640983-G-A		not specified	Uncertain significance (Dec 10, 2024)
14-20641009-A-G		not specified	Uncertain significance (Dec 21, 2022)
14-20641022-T-C		not specified	Uncertain significance (Apr 05, 2023)
14-20641022-T-G		not specified	Uncertain significance (Apr 18, 2024)
14-20641028-C-T		not specified	Uncertain significance (Mar 02, 2023)
14-20641030-T-C		not specified	Uncertain significance (Jul 30, 2024)
14-20641045-A-T		not specified	Uncertain significance (Jan 24, 2024)
14-20641067-C-T		not specified	Uncertain significance (May 05, 2023)
14-20641076-C-A		not specified	Uncertain significance (Oct 05, 2023)
14-20641096-T-C			Likely benign (Jul 01, 2024)
14-20641127-G-A		not specified	Uncertain significance (Oct 04, 2024)
14-20641129-A-G		not specified	Uncertain significance (May 23, 2023)
14-20641135-G-A		not specified	Uncertain significance (Sep 20, 2023)
14-20641145-C-G		not specified	Uncertain significance (Jun 06, 2023)
14-20641166-C-T		not specified	Uncertain significance (Oct 12, 2021)
14-20641295-G-A		not specified	Uncertain significance (Jun 17, 2024)
14-20641327-G-A		not specified	Likely benign (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR6S1	protein_coding	protein_coding	ENST00000320704	1	996

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0288	0.815	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.982	222	184	1.20	0.00000977	2121
Missense in Polyphen		82	68.425	1.1984		824
Synonymous	-0.871	88	78.2	1.13	0.00000423	734
Loss of Function	1.09	3	5.84	0.513	2.91e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.652
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.92

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.103

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr750

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