OR7A5

olfactory receptor family 7 subfamily A member 5, the group of Olfactory receptors, family 7

Basic information

Region (hg38): 19:14826240-14835185

Links

ENSG00000188269 ∙ NCBI:26659 ∙ ∙ HGNC:8368 ∙ Uniprot:Q15622 ∙ 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 OR7A5 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7A5 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	2		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	19	2	0

Variants in OR7A5

This is a list of pathogenic ClinVar variants found in the OR7A5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14827332-G-A		not specified	Uncertain significance (Jun 11, 2021)
19-14827397-G-C		not specified	Uncertain significance (Dec 14, 2021)
19-14827446-G-A		not specified	Uncertain significance (Apr 08, 2023)
19-14827466-T-C		not specified	Uncertain significance (Mar 21, 2023)
19-14827484-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-14827500-C-G		not specified	Uncertain significance (Jan 24, 2024)
19-14827508-A-C		not specified	Uncertain significance (Sep 01, 2021)
19-14827562-G-A		not specified	Uncertain significance (Aug 28, 2023)
19-14827590-A-G		not specified	Uncertain significance (Oct 04, 2022)
19-14827607-G-C		not specified	Uncertain significance (Apr 25, 2022)
19-14827620-C-T		not specified	Uncertain significance (Jan 03, 2022)
19-14827634-A-G		not specified	Likely benign (Oct 05, 2023)
19-14827645-T-C		not specified	Likely benign (May 11, 2022)
19-14827748-C-T		not specified	Uncertain significance (Mar 29, 2022)
19-14827836-T-C		not specified	Uncertain significance (Feb 07, 2023)
19-14827877-C-T		not specified	Uncertain significance (Sep 14, 2023)
19-14827887-C-T		not specified	Uncertain significance (Dec 06, 2022)
19-14827937-T-C		not specified	Likely benign (Aug 01, 2023)
19-14827967-A-G		not specified	Uncertain significance (Jul 25, 2023)
19-14828027-C-A		not specified	Uncertain significance (Oct 29, 2021)
19-14828075-T-G		not specified	Uncertain significance (Nov 21, 2022)
19-14828112-G-T		not specified	Uncertain significance (Nov 09, 2021)
19-14828159-A-G		not specified	Uncertain significance (Apr 12, 2023)
19-14828180-G-C		not specified	Uncertain significance (Jul 20, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7A5	protein_coding	protein_coding	ENST00000322301	1	42887

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.153	161	167	0.967	0.00000788	2069
Missense in Polyphen		33	36.721	0.89868		554
Synonymous	0.0887	65	65.9	0.986	0.00000310	671
Loss of Function

LoF frequencies by population

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

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

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• pHI: 0.0307
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0726

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr57

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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