OR7E24

olfactory receptor family 7 subfamily E member 24, the group of Olfactory receptors, family 7

Basic information

Region (hg38): 19:9247343-9252625

Previous symbols: [ "OR7E24P" ]

Links

ENSG00000237521 ∙ NCBI:26648 ∙ ∙ HGNC:8396 ∙ Uniprot:Q6IFN5 ∙ 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 OR7E24 gene.

• Inborn genetic diseases (18 variants)
• CIC-DUX Sarcoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7E24 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			18
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	0	0

Variants in OR7E24

This is a list of pathogenic ClinVar variants found in the OR7E24 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9251062-C-A		not specified	Uncertain significance (Feb 10, 2022)
19-9251064-C-CT		CIC-DUX Sarcoma	not provided (-)
19-9251126-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-9251182-G-T		not specified	Uncertain significance (Nov 29, 2021)
19-9251239-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-9251264-A-C		not specified	Uncertain significance (Mar 16, 2022)
19-9251327-C-T		not specified	Uncertain significance (Jan 27, 2022)
19-9251329-G-C		not specified	Uncertain significance (Jan 08, 2024)
19-9251407-T-C		not specified	Uncertain significance (May 16, 2022)
19-9251444-G-C		not specified	Likely benign (Aug 18, 2021)
19-9251474-T-C		not specified	Uncertain significance (Dec 15, 2022)
19-9251596-A-C		not specified	Uncertain significance (May 27, 2022)
19-9251632-T-C		not specified	Uncertain significance (Oct 18, 2021)
19-9251666-C-A		not specified	Uncertain significance (Aug 02, 2021)
19-9251705-G-A		not specified	Uncertain significance (Dec 13, 2023)
19-9251734-G-A		not specified	Uncertain significance (May 24, 2023)
19-9251807-C-A		not specified	Uncertain significance (Jan 05, 2022)
19-9251812-T-C		not specified	Uncertain significance (Sep 16, 2021)
19-9251825-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-9251915-T-C		not specified	Uncertain significance (May 06, 2022)
19-9251938-G-A		not specified	Uncertain significance (May 16, 2022)
19-9252029-C-G		not specified	Uncertain significance (Jun 21, 2023)
19-9252031-C-T		not specified	Uncertain significance (Oct 02, 2023)
19-9252032-A-G		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7E24	protein_coding	protein_coding	ENST00000456448	1	1215

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	0.114	177	181	0.976	0.00000875	2227
Missense in Polyphen		36	37.35	0.96386		562
Synonymous	0.799	62	70.5	0.879	0.00000340	683
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);GPCRs, Other;Olfactory receptor activity;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.824
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.123
• ghis: 0.393

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0716

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr873

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