OR1E2

olfactory receptor family 1 subfamily E member 2, the group of Olfactory receptors, family 1

Basic information

Region (hg38): 17:3432870-3433841

Previous symbols: [ "OR1E4" ]

Links

ENSG00000127780 ∙ NCBI:8388 ∙ ∙ HGNC:8190 ∙ Uniprot:P47887 ∙ 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 OR1E2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR1E2 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			23	2		25
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 OR1E2

This is a list of pathogenic ClinVar variants found in the OR1E2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-3432907-C-G		not specified	Uncertain significance (Jul 14, 2023)
17-3432957-G-A			Likely benign (Feb 01, 2023)
17-3433049-T-A		not specified	Uncertain significance (Nov 22, 2021)
17-3433082-G-C		not specified	Uncertain significance (Oct 06, 2024)
17-3433126-G-T		not specified	Uncertain significance (Dec 14, 2023)
17-3433162-T-C		not specified	Uncertain significance (Dec 08, 2023)
17-3433220-T-C		not specified	Uncertain significance (Sep 25, 2024)
17-3433249-C-A		not specified	Uncertain significance (Nov 30, 2021)
17-3433326-C-A		not specified	Uncertain significance (Jan 21, 2025)
17-3433332-T-A		not specified	Uncertain significance (Nov 01, 2021)
17-3433361-T-A		not specified	Uncertain significance (Jul 09, 2024)
17-3433378-G-A		not specified	Likely benign (Nov 08, 2022)
17-3433402-G-A		not specified	Uncertain significance (Jan 23, 2025)
17-3433402-G-C		not specified	Uncertain significance (Mar 02, 2023)
17-3433415-C-T		not specified	Likely benign (Dec 06, 2021)
17-3433420-T-C		not specified	Uncertain significance (Jul 25, 2024)
17-3433447-T-G		not specified	Uncertain significance (Dec 05, 2022)
17-3433450-T-G		not specified	Uncertain significance (Nov 02, 2023)
17-3433475-A-G		not specified	Uncertain significance (Feb 28, 2023)
17-3433478-G-C		not specified	Uncertain significance (Mar 14, 2023)
17-3433490-T-C		not specified	Uncertain significance (Aug 08, 2023)
17-3433506-G-C		not specified	Uncertain significance (May 08, 2023)
17-3433546-G-A		not specified	Uncertain significance (Sep 08, 2024)
17-3433588-A-T		not specified	Uncertain significance (Jan 16, 2024)
17-3433672-G-A		not specified	Uncertain significance (Feb 12, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR1E2	protein_coding	protein_coding	ENST00000248384	1	972

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00156	0.704	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.294	184	173	1.06	0.00000797	2107
Missense in Polyphen		35	35.774	0.97835		520
Synonymous	-0.301	75	71.8	1.05	0.00000348	669
Loss of Function	0.777	5	7.26	0.689	4.15e-7	89

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;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: 0.674
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.23

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;sensory perception of chemical stimulus;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity;signaling receptor activity