OR3A3

olfactory receptor family 3 subfamily A member 3, the group of Olfactory receptors, family 3

Basic information

Region (hg38): 17:3411370-3424070

Previous symbols: [ "OR3A6", "OR3A7", "OR3A8P" ]

Links

ENSG00000159961NCBI:8392HGNC:8284Uniprot:P47888AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR3A3 gene.

  • not_specified (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR3A3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012373.3. 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
30
clinvar
3
clinvar
33
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR3A3protein_codingprotein_codingENST00000291231 1966
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001710.27700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5691431630.8750.000008492068
Missense in Polyphen2336.2790.63397564
Synonymous0.9536070.10.8550.00000388701
Loss of Function-0.54553.851.302.46e-746

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);GPCRs, Other;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)

Recessive Scores

pRec
0.0845

Intolerance Scores

loftool
0.813
rvis_EVS
0.53
rvis_percentile_EVS
80.58

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.255
ghis
0.412

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0712

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Gene ontology

Biological process
signal transduction;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