OR6S1

olfactory receptor family 6 subfamily S member 1, the group of Olfactory receptors, family 6

Basic information

Region (hg38): 14:20640696-20641691

Links

ENSG00000181803NCBI:341799HGNC:15363Uniprot:Q8NH40AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR6S1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR6S1 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
27
clinvar
3
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 27 3 0

Variants in OR6S1

This is a list of pathogenic ClinVar variants found in the OR6S1 region.

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

Position Type Phenotype Significance ClinVar
14-20640707-C-G not specified Uncertain significance (Jun 24, 2022)2224824
14-20640749-C-T not specified Uncertain significance (Jan 08, 2024)3206596
14-20640772-A-T not specified Uncertain significance (Apr 09, 2024)3303365
14-20640805-C-A not specified Uncertain significance (Mar 16, 2022)2278861
14-20640805-C-T not specified Uncertain significance (Aug 02, 2022)2358127
14-20640850-G-A not specified Uncertain significance (Jan 23, 2025)3884263
14-20640871-T-A not specified Uncertain significance (Jan 15, 2025)3884264
14-20640895-G-A not specified Uncertain significance (Dec 10, 2024)3412106
14-20640983-G-A not specified Uncertain significance (Dec 10, 2024)3412112
14-20641009-A-G not specified Uncertain significance (Dec 21, 2022)2338944
14-20641022-T-C not specified Uncertain significance (Apr 05, 2023)2519291
14-20641022-T-G not specified Uncertain significance (Apr 18, 2024)3303368
14-20641028-C-T not specified Uncertain significance (Mar 02, 2023)2465304
14-20641030-T-C not specified Uncertain significance (Jul 30, 2024)3412109
14-20641045-A-T not specified Uncertain significance (Jan 24, 2024)3206594
14-20641067-C-T not specified Uncertain significance (May 05, 2023)2568676
14-20641076-C-A not specified Uncertain significance (Oct 05, 2023)3206593
14-20641096-T-C Likely benign (Jul 01, 2024)2644052
14-20641127-G-A not specified Uncertain significance (Oct 04, 2024)3412107
14-20641129-A-G not specified Uncertain significance (May 23, 2023)2550415
14-20641135-G-A not specified Uncertain significance (Sep 20, 2023)3206592
14-20641145-C-G not specified Uncertain significance (Jun 06, 2023)2546297
14-20641166-C-T not specified Uncertain significance (Oct 12, 2021)3206591
14-20641295-G-A not specified Uncertain significance (Jun 17, 2024)3303366
14-20641327-G-A not specified Likely benign (Jul 14, 2021)2357243

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR6S1protein_codingprotein_codingENST00000320704 1996
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02880.81500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.9822221841.200.000009772121
Missense in Polyphen8268.4251.1984824
Synonymous-0.8718878.21.130.00000423734
Loss of Function1.0935.840.5132.91e-769

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)

Intolerance Scores

loftool
0.652
rvis_EVS
1.42
rvis_percentile_EVS
94.92

Haploinsufficiency Scores

pHI
0.135
hipred
N
hipred_score
0.208
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.103

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Olfr750
Phenotype

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