OR51S1

olfactory receptor family 51 subfamily S member 1, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:4848237-4849208

Links

ENSG00000176922 ∙ NCBI:119692 ∙ ∙ HGNC:15204 ∙ Uniprot:Q8NGJ8 ∙ 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 OR51S1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51S1 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			25	2		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	2	0

Variants in OR51S1

This is a list of pathogenic ClinVar variants found in the OR51S1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4848296-C-T		not specified	Uncertain significance (Mar 07, 2024)
11-4848301-A-G		not specified	Uncertain significance (Dec 14, 2023)
11-4848304-T-C		not specified	Uncertain significance (May 23, 2023)
11-4848317-G-T		not specified	Uncertain significance (Sep 13, 2023)
11-4848324-G-T		not specified	Uncertain significance (Mar 31, 2024)
11-4848358-G-A		not specified	Uncertain significance (Mar 23, 2022)
11-4848374-T-C		not specified	Likely benign (Jul 14, 2022)
11-4848376-T-C		not specified	Uncertain significance (Apr 24, 2023)
11-4848434-A-G		not specified	Uncertain significance (Apr 15, 2024)
11-4848487-C-T		not specified	Uncertain significance (Sep 25, 2023)
11-4848499-G-T		not specified	Uncertain significance (Oct 03, 2023)
11-4848511-T-G		not specified	Uncertain significance (Sep 16, 2021)
11-4848571-G-A		not specified	Likely benign (May 15, 2023)
11-4848583-A-G		not specified	Uncertain significance (Feb 06, 2023)
11-4848614-C-T		not specified	Uncertain significance (Jan 10, 2023)
11-4848631-G-A		not specified	Uncertain significance (Jun 06, 2023)
11-4848640-G-A		not specified	Uncertain significance (Dec 08, 2023)
11-4848677-G-A		not specified	Uncertain significance (Jun 13, 2023)
11-4848687-C-T		not specified	Uncertain significance (Jan 06, 2023)
11-4848707-G-C		not specified	Uncertain significance (May 24, 2023)
11-4848750-G-T		not specified	Uncertain significance (Mar 24, 2023)
11-4848794-G-A		not specified	Uncertain significance (Jan 29, 2024)
11-4848826-A-G		not specified	Uncertain significance (Jun 09, 2022)
11-4848919-G-T		not specified	Uncertain significance (Aug 10, 2023)
11-4849001-A-G		not specified	Uncertain significance (Apr 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51S1	protein_coding	protein_coding	ENST00000322101	1	1088

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000282	0.574	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.753	207	179	1.16	0.00000875	2055
Missense in Polyphen		91	74.58	1.2202		903
Synonymous	-0.598	79	72.5	1.09	0.00000343	731
Loss of Function	0.547	6	7.63	0.786	4.75e-7	77

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)

Recessive Scores

• pRec: 0.0850

Intolerance Scores

• loftool: 0.496
• rvis_EVS: 1.8
• rvis_percentile_EVS: 96.9

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.169

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0648

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr571

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