OR52E8

olfactory receptor family 52 subfamily E member 8, the group of Olfactory receptors, family 52

Basic information

Region (hg38): 11:5856749-5857690

Links

ENSG00000183269 ∙ NCBI:390079 ∙ ∙ HGNC:15217 ∙ Uniprot:Q6IFG1 ∙ 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 OR52E8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR52E8 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			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	3	0

Variants in OR52E8

This is a list of pathogenic ClinVar variants found in the OR52E8 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5856799-T-G		not specified	Uncertain significance (Apr 20, 2024)
11-5856835-G-A		not specified	Uncertain significance (Mar 02, 2023)
11-5856892-G-T		not specified	Uncertain significance (Dec 28, 2023)
11-5856908-C-A		not specified	Likely benign (May 03, 2023)
11-5856949-C-A		not specified	Uncertain significance (Aug 28, 2023)
11-5856964-C-T		not specified	Uncertain significance (Aug 23, 2021)
11-5856987-C-A		not specified	Uncertain significance (Nov 09, 2022)
11-5857011-A-G		not specified	Uncertain significance (May 11, 2022)
11-5857128-C-A		not specified	Uncertain significance (Dec 07, 2023)
11-5857138-C-T		not specified	Uncertain significance (Mar 29, 2023)
11-5857264-T-C		not specified	Uncertain significance (Mar 29, 2022)
11-5857285-T-C		not specified	Uncertain significance (Oct 26, 2022)
11-5857329-G-A		not specified	Uncertain significance (Apr 12, 2022)
11-5857379-G-C			Likely benign (Jul 01, 2023)
11-5857419-G-C		not specified	Uncertain significance (Mar 28, 2024)
11-5857449-G-C		not specified	Uncertain significance (Jul 11, 2023)
11-5857470-C-T		not specified	Uncertain significance (Jan 24, 2024)
11-5857500-A-C		not specified	Uncertain significance (Aug 17, 2022)
11-5857537-G-C		not specified	Uncertain significance (May 30, 2023)
11-5857576-C-T		not specified	Likely benign (Feb 26, 2024)
11-5857589-G-C		not specified	Uncertain significance (Feb 01, 2023)
11-5857645-G-C		not specified	Uncertain significance (May 04, 2023)
11-5857660-G-T		not specified	Uncertain significance (Dec 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR52E8	protein_coding	protein_coding	ENST00000537935	1	1061

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.381	0.579	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.23	216	171	1.26	0.00000837	2067
Missense in Polyphen		58	46.757	1.2404		659
Synonymous	-2.11	83	61.9	1.34	0.00000280	664
Loss of Function	1.62	1	4.84	0.207	2.71e-7	63

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: 0.620
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.82

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr675

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