OR9Q1

olfactory receptor family 9 subfamily Q member 1, the group of Olfactory receptors, family 9

Basic information

Region (hg38): 11:58023881-58181616

Links

ENSG00000186509NCBI:219956HGNC:14724Uniprot:Q8NGQ5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR9Q1 gene.

  • not_specified (132 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR9Q1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001005212.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
41
clinvar
1
clinvar
42
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 41 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR9Q1protein_codingprotein_codingENST00000335397 1157736
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0008390.5701256830411257240.000163
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2211811731.050.000009022016
Missense in Polyphen5256.2580.92432752
Synonymous0.009487070.10.9990.00000380651
Loss of Function0.43456.160.8112.55e-791

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008500.000850
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00009690.0000967
Middle Eastern0.00005440.0000544
South Asian0.00006530.0000653
Other0.0001630.000163

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
0.0818

Intolerance Scores

loftool
rvis_EVS
0.53
rvis_percentile_EVS
80.88

Haploinsufficiency Scores

pHI
0.0487
hipred
N
hipred_score
0.131
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0696

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfr1500
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