OR10W1

olfactory receptor family 10 subfamily W member 1, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 11:58266792-58268260

Previous symbols: [ "OR10W1P" ]

Links

ENSG00000172772NCBI:81341HGNC:15139Uniprot:Q8NGF6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR10W1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10W1 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
18
clinvar
18
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 0 0

Variants in OR10W1

This is a list of pathogenic ClinVar variants found in the OR10W1 region.

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

Position Type Phenotype Significance ClinVar
11-58267015-C-G not specified Uncertain significance (Sep 29, 2022)2227483
11-58267059-A-G not specified Uncertain significance (Nov 09, 2023)3204656
11-58267099-T-C not specified Uncertain significance (Dec 20, 2023)3204655
11-58267107-A-G not specified Uncertain significance (Jan 04, 2022)2269118
11-58267186-G-T not specified Uncertain significance (Jul 19, 2023)2612900
11-58267201-G-A not specified Uncertain significance (Feb 16, 2023)2470466
11-58267218-G-A not specified Uncertain significance (Dec 06, 2022)2333516
11-58267312-T-C not specified Uncertain significance (Dec 09, 2023)3204652
11-58267324-C-T not specified Uncertain significance (May 06, 2024)3302454
11-58267387-G-T not specified Uncertain significance (Jun 30, 2023)2603722
11-58267392-G-C not specified Uncertain significance (Sep 22, 2022)2312955
11-58267464-C-T not specified Uncertain significance (Oct 06, 2021)2253895
11-58267500-G-A not specified Uncertain significance (Aug 02, 2023)2595443
11-58267521-C-T not specified Uncertain significance (Jul 31, 2023)2599166
11-58267522-G-A not specified Uncertain significance (May 03, 2023)2543230
11-58267612-T-G not specified Uncertain significance (Mar 23, 2023)2528797
11-58267747-C-T not specified Uncertain significance (Jun 03, 2024)3302453
11-58267801-G-A not specified Uncertain significance (Jan 09, 2024)3204654
11-58267806-G-A not specified Uncertain significance (Dec 16, 2021)2267593
11-58267844-G-C not specified Uncertain significance (Nov 07, 2022)2220602

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR10W1protein_codingprotein_codingENST00000395079 11469
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01570.71400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4591791631.100.000007531953
Missense in Polyphen5454.6470.98815676
Synonymous-0.9888069.51.150.00000328672
Loss of Function0.68334.580.6561.90e-766

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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
0.0785

Intolerance Scores

loftool
0.617
rvis_EVS
1.15
rvis_percentile_EVS
92.47

Haploinsufficiency Scores

pHI
0.0754
hipred
N
hipred_score
0.170
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.178

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfr1490
Phenotype

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