OR4N4

olfactory receptor family 4 subfamily N member 4, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 15:22094522-22095862

Links

ENSG00000183706 ∙ NCBI:283694 ∙ ∙ HGNC:15375 ∙ Uniprot:Q8N0Y3 ∙ 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 OR4N4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4N4 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				2		2
missense			18	1	3	22
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	3

Variants in OR4N4

This is a list of pathogenic ClinVar variants found in the OR4N4 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-22094529-T-C		not specified	Uncertain significance (Jan 04, 2024)
15-22094533-A-G			Likely benign (Mar 01, 2023)
15-22094536-C-A		not specified	Uncertain significance (May 03, 2023)
15-22094574-C-A		not specified	Uncertain significance (Apr 08, 2022)
15-22094582-C-A		not specified	Uncertain significance (Dec 27, 2022)
15-22094643-G-A		not specified	Uncertain significance (Sep 16, 2021)
15-22094704-A-C			Benign (Jun 23, 2017)
15-22094720-G-A		not specified	Uncertain significance (Oct 13, 2023)
15-22094739-A-G		not specified	Uncertain significance (Jun 21, 2022)
15-22094744-T-C		not specified	Uncertain significance (Nov 17, 2023)
15-22094748-T-C		not specified	Uncertain significance (Apr 05, 2023)
15-22094753-G-C			Benign (Jun 23, 2017)
15-22094777-C-T			Benign (Jun 23, 2017)
15-22094781-C-A		not specified	Uncertain significance (Jul 19, 2023)
15-22094802-A-G		not specified	Uncertain significance (May 30, 2024)
15-22094904-G-A		not specified	Likely benign (Mar 20, 2024)
15-22095046-C-A		not specified	Uncertain significance (Sep 21, 2023)
15-22095087-G-T		not specified	Uncertain significance (Feb 28, 2024)
15-22095104-G-A		not specified	Uncertain significance (Jun 10, 2024)
15-22095228-C-A		not specified	Uncertain significance (May 18, 2022)
15-22095231-T-C		not specified	Uncertain significance (Jun 28, 2022)
15-22095257-A-T		not specified	Uncertain significance (Oct 05, 2022)
15-22095323-G-A		not specified	Uncertain significance (Dec 14, 2023)
15-22095328-G-A			Likely benign (Mar 01, 2023)
15-22095329-A-G		not specified	Likely benign (Oct 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4N4	protein_coding	protein_coding	ENST00000328795	1	1126

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000513	0.264	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.77	218	156	1.40	0.00000787	1990
Missense in Polyphen		75	50.555	1.4835		756
Synonymous	-2.54	82	57.5	1.43	0.00000271	627
Loss of Function	-0.343	6	5.16	1.16	3.06e-7	69

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)

Recessive Scores

• pRec: 0.0741

Intolerance Scores

• loftool: 0.954
• rvis_EVS: 2.24
• rvis_percentile_EVS: 98.18

Haploinsufficiency Scores

• pHI: 0.0954
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0542

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr733

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