OR2W1

olfactory receptor family 2 subfamily W member 1, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 6:29044213-29045175

Links

ENSG00000204704 ∙ NCBI:26692 ∙ ∙ HGNC:8281 ∙ Uniprot:Q9Y3N9 ∙ 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 OR2W1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2W1 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in OR2W1

This is a list of pathogenic ClinVar variants found in the OR2W1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29044225-A-C		not specified	Uncertain significance (Nov 27, 2023)
6-29044298-C-G		not specified	Uncertain significance (Aug 14, 2024)
6-29044575-C-T		not specified	Likely benign (Apr 01, 2024)
6-29044642-C-G		not specified	Likely benign (Sep 22, 2023)
6-29044701-A-C		not specified	Uncertain significance (Oct 12, 2021)
6-29044818-A-G		not specified	Uncertain significance (Jun 10, 2024)
6-29044959-A-G		not specified	Uncertain significance (Nov 08, 2022)
6-29045000-A-C		not specified	Uncertain significance (Mar 05, 2024)
6-29045036-A-G		not specified	Uncertain significance (Feb 17, 2024)
6-29045108-A-G		not specified	Likely benign (Jun 16, 2024)
6-29045115-G-T		not specified	Uncertain significance (Dec 16, 2022)
6-29045135-A-G		not specified	Uncertain significance (Apr 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2W1	protein_coding	protein_coding	ENST00000377175	1	1028

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0441	0.859	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.238	161	170	0.949	0.00000791	2099
Missense in Polyphen		52	58.091	0.89515		779
Synonymous	1.50	47	62.1	0.757	0.00000297	640
Loss of Function	1.36	3	6.84	0.439	3.68e-7	97

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;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.583
• rvis_EVS: 0.61
• rvis_percentile_EVS: 83.07

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00000266

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr263

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