OR10G9

olfactory receptor family 10 subfamily G member 9, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 11:124023013-124023948

Previous symbols: [ "OR10G10P" ]

Links

ENSG00000236981NCBI:219870HGNC:15129Uniprot:Q8NGN4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR10G9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10G9 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
1
clinvar
1
missense
23
clinvar
2
clinvar
25
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 23 0 3

Variants in OR10G9

This is a list of pathogenic ClinVar variants found in the OR10G9 region.

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

Position Type Phenotype Significance ClinVar
11-124023061-C-T not specified Uncertain significance (Jan 06, 2023)3204536
11-124023067-C-T not specified Uncertain significance (Dec 07, 2021)3204537
11-124023083-C-T not specified Uncertain significance (Nov 08, 2022)2394285
11-124023130-A-T not specified Uncertain significance (Dec 04, 2023)3204532
11-124023154-A-G not specified Uncertain significance (Aug 14, 2023)2618362
11-124023166-C-T not specified Uncertain significance (Mar 30, 2024)3302401
11-124023178-C-A not specified Uncertain significance (Mar 01, 2024)3204533
11-124023181-A-G not specified Uncertain significance (May 09, 2023)2545990
11-124023274-G-A not specified Uncertain significance (Mar 14, 2023)2462017
11-124023281-C-T Benign (Jun 22, 2017)769812
11-124023284-T-C not specified Uncertain significance (Jan 26, 2023)2473610
11-124023295-A-T not specified Uncertain significance (Sep 16, 2021)2250825
11-124023305-C-G not specified Uncertain significance (Sep 30, 2021)2358174
11-124023323-A-G not specified Uncertain significance (Oct 05, 2023)3204535
11-124023335-G-A not specified Uncertain significance (Mar 25, 2024)3302402
11-124023395-C-T not specified Uncertain significance (Mar 19, 2024)3302404
11-124023398-T-A not specified Uncertain significance (Feb 14, 2023)2455596
11-124023412-A-G Benign (Jul 14, 2017)769378
11-124023429-A-G Benign (Jul 14, 2017)768493
11-124023481-G-C not specified Uncertain significance (Feb 23, 2023)2457862
11-124023590-C-T not specified Uncertain significance (Feb 13, 2024)2410198
11-124023608-T-C not specified Uncertain significance (Apr 01, 2024)3302406
11-124023638-G-T not specified Uncertain significance (Mar 25, 2024)3302403
11-124023707-G-C not specified Uncertain significance (Mar 20, 2024)3302405
11-124023764-T-G not specified Uncertain significance (Aug 10, 2023)2594528

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR10G9protein_codingprotein_codingENST00000375024 1936
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00003490.21600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.582241671.350.000008771991
Missense in Polyphen6951.5091.3396704
Synonymous-1.869675.41.270.00000483663
Loss of Function-0.57164.671.291.98e-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
0.0950

Intolerance Scores

loftool
0.563
rvis_EVS
3.69
rvis_percentile_EVS
99.56

Haploinsufficiency Scores

pHI
0.0582
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0987

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfr980
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