OR51E1

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

Basic information

Region (hg38): 11:4643420-4655488

Previous symbols: [ "OR51E1P", "OR52A3P", "GPR164" ]

Links

ENSG00000180785 ∙ NCBI:143503 ∙ OMIM:611267 ∙ HGNC:15194 ∙ Uniprot:Q8TCB6 ∙ 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 OR51E1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51E1 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			23	3		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	0

Variants in OR51E1

This is a list of pathogenic ClinVar variants found in the OR51E1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4652559-T-G		not specified	Uncertain significance (Mar 01, 2024)
11-4652591-G-A		not specified	Uncertain significance (Mar 29, 2023)
11-4652632-T-C		not specified	Uncertain significance (Aug 14, 2024)
11-4652648-C-T		not specified	Uncertain significance (Dec 03, 2024)
11-4652768-T-C		not specified	Uncertain significance (Jun 10, 2022)
11-4652803-A-G		not specified	Uncertain significance (Sep 22, 2022)
11-4652822-C-A		not specified	Uncertain significance (Oct 06, 2022)
11-4652879-T-C		not specified	Uncertain significance (Jan 16, 2024)
11-4652963-A-T		not specified	Uncertain significance (Jan 24, 2024)
11-4652986-C-T		not specified	Uncertain significance (Sep 01, 2024)
11-4653043-C-T		not specified	Uncertain significance (Mar 06, 2023)
11-4653044-G-A		not specified	Likely benign (Mar 24, 2023)
11-4653046-T-C		not specified	Uncertain significance (Dec 28, 2022)
11-4653085-G-A		not specified	Uncertain significance (Dec 30, 2023)
11-4653106-G-A		not specified	Uncertain significance (Jul 12, 2022)
11-4653112-C-T		not specified	Uncertain significance (Oct 27, 2022)
11-4653151-G-A		not specified	Uncertain significance (Dec 04, 2023)
11-4653173-T-C		not specified	Uncertain significance (Jun 29, 2023)
11-4653193-C-T		not specified	Uncertain significance (Feb 14, 2023)
11-4653199-C-T		not specified	Uncertain significance (Mar 29, 2022)
11-4653224-G-A		not specified	Uncertain significance (Nov 18, 2022)
11-4653256-G-A		not specified	Uncertain significance (Aug 02, 2021)
11-4653257-T-C		not specified	Uncertain significance (Jul 02, 2024)
11-4653265-G-C		not specified	Uncertain significance (Mar 11, 2022)
11-4653298-A-T		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51E1	protein_coding	protein_coding	ENST00000396952	1	12069

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00304	0.607	125373	2	364	125739	0.00146

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.238	183	192	0.952	0.0000110	2046
Missense in Polyphen		63	68.782	0.91594		805
Synonymous	-0.598	80	73.5	1.09	0.00000378	704
Loss of Function	0.423	4	5.02	0.796	2.10e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00342	0.00342
Ashkenazi Jewish	0.00607	0.00607
East Asian	0.0000544	0.0000544
Finnish	0.000324	0.000323
European (Non-Finnish)	0.00142	0.00142
Middle Eastern	0.0000544	0.0000544
South Asian	0.000327	0.000327
Other	0.00212	0.00212

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: 0.112

Intolerance Scores

• loftool: 0.715
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.285
• ghis: 0.431

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.116

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr558

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