OR5V1

olfactory receptor family 5 subfamily V member 1, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 6:29353748-29431967

Links

ENSG00000243729 ∙ NCBI:81696 ∙ ∙ HGNC:13972 ∙ Uniprot:Q9UGF6 ∙ 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 OR5V1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5V1 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in OR5V1

This is a list of pathogenic ClinVar variants found in the OR5V1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29355283-C-G		not specified	Uncertain significance (Dec 16, 2023)
6-29355382-T-C		not specified	Uncertain significance (Jul 25, 2023)
6-29355474-C-T		not specified	Uncertain significance (Dec 28, 2022)
6-29355538-A-G		not specified	Uncertain significance (Mar 14, 2023)
6-29355567-G-T		not specified	Uncertain significance (Dec 17, 2023)
6-29355651-G-C		not specified	Uncertain significance (Mar 07, 2024)
6-29355831-C-T		not specified	Uncertain significance (Mar 12, 2024)
6-29355843-A-G		not specified	Uncertain significance (Feb 15, 2023)
6-29355905-A-C		not specified	Uncertain significance (Aug 28, 2023)
6-29355970-T-C		not specified	Uncertain significance (Feb 06, 2023)
6-29356020-A-G		not specified	Uncertain significance (May 03, 2023)
6-29356024-G-A		not specified	Uncertain significance (Dec 20, 2022)
6-29356053-G-A		not specified	Likely benign (Dec 06, 2022)
6-29356107-A-T		not specified	Uncertain significance (Feb 27, 2024)
6-29374410-T-A		not specified	Uncertain significance (Jun 27, 2022)
6-29374545-C-T		not specified	Uncertain significance (Apr 13, 2023)
6-29374593-A-G		not specified	Uncertain significance (Jan 23, 2023)
6-29374647-A-G		not specified	Uncertain significance (Jul 12, 2023)
6-29374746-G-A		not specified	Uncertain significance (Jul 21, 2021)
6-29374746-G-T		not specified	Uncertain significance (Jul 06, 2022)
6-29374828-C-T		not specified	Uncertain significance (Jan 23, 2024)
6-29374830-T-C		not specified	Uncertain significance (Sep 07, 2022)
6-29374866-A-T		not specified	Uncertain significance (Mar 02, 2023)
6-29374873-A-G		not specified	Uncertain significance (Jul 13, 2021)
6-29374876-C-A		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5V1	protein_coding	protein_coding	ENST00000377154	1	76738

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0132	0.678	125693	0	26	125719	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.231	156	164	0.949	0.00000756	2074
Missense in Polyphen		69	61.035	1.1305		783
Synonymous	0.575	59	64.9	0.909	0.00000302	656
Loss of Function	0.556	3	4.24	0.708	1.73e-7	73

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000505	0.000503
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.000381	0.000381
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.789
• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.394

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.181

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr111

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