OR51A7

olfactory receptor family 51 subfamily A member 7, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:4903783-4909462

Links

ENSG00000176895 ∙ NCBI:119687 ∙ ∙ HGNC:15188 ∙ Uniprot:Q8NH64 ∙ 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 OR51A7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51A7 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				1		1
missense			18	3		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	4	0

Variants in OR51A7

This is a list of pathogenic ClinVar variants found in the OR51A7 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4907433-C-T		Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance (-)
11-4907489-G-A		not specified	Uncertain significance (Oct 22, 2021)
11-4907497-G-A		not specified	Uncertain significance (Aug 27, 2024)
11-4907530-C-T		not specified	Likely benign (Mar 16, 2022)
11-4907618-G-T		not specified	Uncertain significance (Dec 15, 2023)
11-4907619-G-A		not specified	Likely benign (Jun 29, 2023)
11-4907676-T-G		not specified	Uncertain significance (Jan 16, 2024)
11-4907678-C-A		not specified	Uncertain significance (Jan 18, 2023)
11-4907712-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-4907760-A-G		not specified	Uncertain significance (Mar 31, 2024)
11-4907774-C-G		not specified	Uncertain significance (Oct 25, 2024)
11-4907790-G-A		not specified	Uncertain significance (Jun 25, 2024)
11-4907794-C-T		not specified	Uncertain significance (Dec 27, 2022)
11-4907808-A-C		not specified	Uncertain significance (Dec 28, 2023)
11-4907815-C-G		not specified	Uncertain significance (Feb 23, 2023)
11-4907830-T-C		not specified	Uncertain significance (Jun 10, 2024)
11-4907912-T-A		not specified	Uncertain significance (Aug 04, 2024)
11-4907928-C-A		not specified	Uncertain significance (Sep 08, 2024)
11-4908037-C-A		not specified	Uncertain significance (Dec 14, 2021)
11-4908048-A-C		not specified	Uncertain significance (Aug 17, 2021)
11-4908058-T-C		not specified	Uncertain significance (Jun 09, 2022)
11-4908069-C-A		not specified	Uncertain significance (Aug 04, 2021)
11-4908070-T-A		not specified	Uncertain significance (Aug 04, 2021)
11-4908074-G-T		not specified	Uncertain significance (Oct 11, 2024)
11-4908121-A-G		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51A7	protein_coding	protein_coding	ENST00000359350	1	939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000254	0.0942	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.860	189	159	1.19	0.00000742	2050
Missense in Polyphen		40	34.762	1.1507		539
Synonymous	0.00284	59	59.0	1.00	0.00000280	627
Loss of Function	-1.21	7	4.29	1.63	1.81e-7	83

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: 0.0570

Intolerance Scores

• loftool: 0.586
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.0327
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0386

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr576

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