OR8D4

olfactory receptor family 8 subfamily D member 4, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:123902167-123909229

Links

ENSG00000181518NCBI:338662HGNC:14840Uniprot:Q8NGM9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR8D4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8D4 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
13
clinvar
1
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 1 0

Variants in OR8D4

This is a list of pathogenic ClinVar variants found in the OR8D4 region.

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

Position Type Phenotype Significance ClinVar
11-123906480-T-G not specified Uncertain significance (Nov 16, 2022)2326178
11-123906594-C-T not specified Uncertain significance (Oct 01, 2024)3412241
11-123906600-A-T not specified Uncertain significance (Sep 02, 2024)3412238
11-123906660-A-T not specified Uncertain significance (Feb 06, 2024)3206736
11-123906698-T-A not specified Uncertain significance (Jul 27, 2022)2304052
11-123906772-T-C not specified Uncertain significance (Jul 10, 2024)2298501
11-123906859-T-C not specified Uncertain significance (May 24, 2023)2551798
11-123906870-G-C not specified Uncertain significance (Sep 09, 2021)2248934
11-123906892-C-T not specified Uncertain significance (Mar 15, 2024)3303425
11-123906900-G-A not specified Likely benign (Dec 16, 2023)3206738
11-123906924-A-G not specified Uncertain significance (Jan 09, 2024)3206739
11-123907050-A-G not specified Uncertain significance (Jun 29, 2022)2381772
11-123907075-T-G not specified Uncertain significance (Jul 20, 2021)2238499
11-123907123-A-G not specified Uncertain significance (Feb 14, 2023)2462169
11-123907149-A-G not specified Uncertain significance (Jun 11, 2024)3303426
11-123907150-C-A not specified Uncertain significance (Dec 07, 2024)3412237
11-123907174-T-G not specified Uncertain significance (Mar 01, 2023)2492965
11-123907203-A-G not specified Uncertain significance (Feb 13, 2023)2483092
11-123907225-G-C not specified Uncertain significance (Oct 25, 2024)3412240
11-123907297-T-C not specified Uncertain significance (Aug 14, 2024)3412239
11-123907369-C-A not specified Uncertain significance (Sep 14, 2023)2593450

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR8D4protein_codingprotein_codingENST00000321355 11075
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1230.78800000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2981731621.070.000007692028
Missense in Polyphen6050.1861.1956690
Synonymous-0.4716459.41.080.00000279645
Loss of Function1.3625.410.3702.25e-796

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
0.0768

Intolerance Scores

loftool
0.788
rvis_EVS
2.86
rvis_percentile_EVS
99.13

Haploinsufficiency Scores

pHI
0.0370
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
0.0360

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Olfr985
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