OR5M1

olfactory receptor family 5 subfamily M member 1, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 11:56609236-56614874

Links

ENSG00000255012 ∙ NCBI:390168 ∙ ∙ HGNC:8352 ∙ Uniprot:Q8NGP8 ∙ 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 OR5M1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5M1 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in OR5M1

This is a list of pathogenic ClinVar variants found in the OR5M1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56612600-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-56612626-G-A		not specified	Uncertain significance (Jan 30, 2024)
11-56612631-C-T		not specified	Uncertain significance (Dec 20, 2023)
11-56612644-G-T		not specified	Uncertain significance (May 29, 2024)
11-56612649-A-G		not specified	Uncertain significance (Feb 22, 2024)
11-56612718-G-C		not specified	Uncertain significance (Dec 20, 2023)
11-56612719-G-T		not specified	Uncertain significance (Aug 28, 2024)
11-56612730-A-G		not specified	Uncertain significance (Nov 24, 2024)
11-56612823-C-T		not specified	Uncertain significance (Nov 24, 2024)
11-56612925-C-T		not specified	Likely benign (May 30, 2023)
11-56612940-G-A		not specified	Uncertain significance (Apr 20, 2023)
11-56613052-A-G		not specified	Uncertain significance (Nov 17, 2022)
11-56613054-A-G		not specified	Uncertain significance (Jan 10, 2022)
11-56613055-T-C		not specified	Uncertain significance (Sep 14, 2022)
11-56613081-C-T		not specified	Uncertain significance (Sep 13, 2023)
11-56613150-A-T		not specified	Uncertain significance (Jan 06, 2023)
11-56613154-A-G		not specified	Uncertain significance (Jan 10, 2022)
11-56613163-T-A		not specified	Uncertain significance (Nov 21, 2023)
11-56613181-C-A		not specified	Uncertain significance (Apr 27, 2024)
11-56613204-T-C		not specified	Uncertain significance (Sep 03, 2024)
11-56613237-T-C		not specified	Uncertain significance (Nov 12, 2021)
11-56613253-T-C		not specified	Uncertain significance (Feb 03, 2022)
11-56613274-C-T		not specified	Likely benign (Nov 15, 2024)
11-56613276-T-C		not specified	Uncertain significance (Sep 27, 2021)
11-56613298-C-T		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5M1	protein_coding	protein_coding	ENST00000526538	1	948

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00191	0.507	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.949	204	169	1.21	0.00000862	2069
Missense in Polyphen		65	59.025	1.1012		758
Synonymous	-3.10	99	66.8	1.48	0.00000362	649
Loss of Function	0.119	4	4.27	0.938	1.77e-7	68

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)

Intolerance Scores

• loftool: 0.610
• rvis_EVS: 0.95
• rvis_percentile_EVS: 90.06

Haploinsufficiency Scores

• pHI: 0.0656
• 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	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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;odorant binding