OR5M11

olfactory receptor family 5 subfamily M member 11, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 11:56542340-56543257

Links

ENSG00000255223 ∙ NCBI:219487 ∙ ∙ HGNC:15291 ∙ Uniprot:Q96RB7 ∙ 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 OR5M11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5M11 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			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	0

Variants in OR5M11

This is a list of pathogenic ClinVar variants found in the OR5M11 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-56542440-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
11-56542513-G-C		not specified	Uncertain significance (May 18, 2022)
11-56542536-C-T		not specified	Uncertain significance (Aug 26, 2022)
11-56542542-G-C		not specified	Uncertain significance (Apr 19, 2023)
11-56542551-G-A		not specified	Uncertain significance (May 08, 2024)
11-56542553-C-A		not specified	Uncertain significance (Jun 13, 2023)
11-56542629-A-G		not specified	Uncertain significance (Jul 05, 2023)
11-56542635-C-T		not specified	Likely benign (Jan 26, 2022)
11-56542713-G-A		not specified	Uncertain significance (Sep 16, 2021)
11-56542786-G-T		not specified	Uncertain significance (Feb 07, 2023)
11-56542797-T-C		not specified	Uncertain significance (Jun 06, 2023)
11-56542798-C-G		not specified	Uncertain significance (Jan 23, 2024)
11-56542835-G-C		not specified	Uncertain significance (Mar 14, 2023)
11-56542837-T-C		not specified	Uncertain significance (Feb 05, 2024)
11-56542852-A-G		not specified	Uncertain significance (Dec 13, 2023)
11-56542908-A-G		not specified	Uncertain significance (Dec 15, 2023)
11-56542930-C-G		not specified	Uncertain significance (Jan 02, 2024)
11-56543004-A-G		not specified	Uncertain significance (Jan 03, 2024)
11-56543097-C-T		not specified	Uncertain significance (May 08, 2023)
11-56543125-T-C		not specified	Uncertain significance (Jul 26, 2022)
11-56543149-C-T		not specified	Uncertain significance (Jan 26, 2023)
11-56543196-G-A		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5M11	protein_coding	protein_coding	ENST00000528616	1	1012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000335	0.384	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.513	190	171	1.11	0.00000901	1990
Missense in Polyphen		48	43.223	1.1105		581
Synonymous	-1.56	86	69.5	1.24	0.00000383	634
Loss of Function	-0.102	5	4.76	1.05	1.96e-7	83

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: 0.707
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.58

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• 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: Olfr1029

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