OR4D5

olfactory receptor family 4 subfamily D member 5, the group of Olfactory receptors, family 4

Basic information

Region (hg38): 11:123939617-123940573

Links

ENSG00000171014NCBI:219875HGNC:14852Uniprot:Q8NGN0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR4D5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR4D5 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
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 22 1 0

Variants in OR4D5

This is a list of pathogenic ClinVar variants found in the OR4D5 region.

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

Position Type Phenotype Significance ClinVar
11-123939665-C-A not specified Uncertain significance (Apr 08, 2024)3302884
11-123939686-C-T not specified Uncertain significance (Nov 07, 2024)3411190
11-123939738-G-A not specified Uncertain significance (Jan 10, 2023)2471382
11-123939788-A-G not specified Uncertain significance (Apr 29, 2024)3302882
11-123939810-A-G not specified Uncertain significance (Apr 19, 2024)3302885
11-123939812-C-A not specified Uncertain significance (Aug 28, 2024)2252226
11-123939831-G-A not specified Uncertain significance (Aug 17, 2022)2357037
11-123939845-A-G not specified Uncertain significance (Dec 02, 2022)2332007
11-123939846-C-T not specified Uncertain significance (Feb 27, 2025)3883559
11-123939897-T-C not specified Uncertain significance (Jul 14, 2024)3411191
11-123939959-C-G not specified Uncertain significance (Jan 10, 2025)3883563
11-123939969-T-C not specified Uncertain significance (Feb 23, 2023)2471210
11-123939980-C-T not specified Uncertain significance (May 08, 2024)3302883
11-123940014-C-G not specified Uncertain significance (Sep 16, 2021)2249850
11-123940040-G-A not specified Uncertain significance (Dec 14, 2023)3205539
11-123940074-T-A not specified Uncertain significance (Aug 30, 2021)2247477
11-123940083-C-A not specified Uncertain significance (Feb 06, 2023)2472462
11-123940182-G-A not specified Uncertain significance (Jan 07, 2025)3883561
11-123940205-C-T not specified Uncertain significance (Oct 08, 2024)3411192
11-123940299-A-G not specified Uncertain significance (Dec 23, 2024)3883562
11-123940305-G-A not specified Uncertain significance (Sep 16, 2021)2366814
11-123940369-T-A not specified Uncertain significance (Sep 13, 2023)2623095
11-123940385-G-A not specified Likely benign (Jan 03, 2024)3205540
11-123940404-G-A not specified Uncertain significance (Jan 01, 2025)3883560
11-123940464-A-G not specified Uncertain significance (Nov 07, 2022)2322805

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR4D5protein_codingprotein_codingENST00000307033 11095
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000009030.19000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1591781721.030.000008842061
Missense in Polyphen7167.5951.0504948
Synonymous-1.068270.71.160.00000366693
Loss of Function-0.46175.801.213.33e-772

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
0.0879

Intolerance Scores

loftool
0.787
rvis_EVS
0.58
rvis_percentile_EVS
82.17

Haploinsufficiency Scores

pHI
0.154
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
0.00744

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfr984
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