OR4M1

olfactory receptor family 4 subfamily M member 1, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 14:19773504-19783696

Links

ENSG00000176299 ∙ NCBI:441670 ∙ OMIM:619939 ∙ HGNC:14735 ∙ Uniprot:Q8NGD0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR4M1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4M1 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	1

Variants in OR4M1

This is a list of pathogenic ClinVar variants found in the OR4M1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-19780335-A-C		not specified	Uncertain significance (Oct 20, 2021)
14-19780438-T-C		not specified	Uncertain significance (Jun 17, 2024)
14-19780458-A-G		not specified	Uncertain significance (Feb 28, 2024)
14-19780477-A-G		not specified	Uncertain significance (Nov 03, 2022)
14-19780516-A-T		not specified	Uncertain significance (May 04, 2023)
14-19780542-T-C		not specified	Uncertain significance (Jun 30, 2022)
14-19780567-T-C		not specified	Uncertain significance (Aug 15, 2023)
14-19780619-A-G			Benign (Dec 14, 2017)
14-19780642-T-C		not specified	Uncertain significance (Dec 28, 2023)
14-19780695-G-T		not specified	Uncertain significance (Jan 29, 2024)
14-19780735-G-A		not specified	Uncertain significance (May 02, 2024)
14-19780738-G-A		not specified	Likely benign (Dec 28, 2022)
14-19780755-G-T		not specified	Uncertain significance (Dec 21, 2022)
14-19780863-A-T		not specified	Uncertain significance (Nov 03, 2023)
14-19780978-C-A		not specified	Uncertain significance (Jan 24, 2024)
14-19781024-T-G		not specified	Uncertain significance (Jan 31, 2022)
14-19781025-A-C		not specified	Uncertain significance (Oct 05, 2023)
14-19781050-A-G		not specified	Uncertain significance (Aug 12, 2021)
14-19781065-T-C		not specified	Uncertain significance (Nov 09, 2023)
14-19781106-C-T		not specified	Uncertain significance (Sep 17, 2021)
14-19781127-C-G		not specified	Uncertain significance (Jul 20, 2021)
14-19781145-G-T		not specified	Uncertain significance (Jun 17, 2024)
14-19781165-C-G		not specified	Uncertain significance (Jun 13, 2024)
14-19781194-T-C		not specified	Uncertain significance (May 14, 2024)
14-19781248-T-G		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR4M1	protein_coding	protein_coding	ENST00000315957	1	1116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00152	0.698	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.56	245	155	1.58	0.00000785	1988
Missense in Polyphen		75	50.763	1.4775		745
Synonymous	-2.89	86	58.0	1.48	0.00000269	637
Loss of Function	0.763	5	7.21	0.693	5.44e-7	87

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: 0.0878

Intolerance Scores

• loftool: 0.581
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.58

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr734

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