VN1R4

vomeronasal 1 receptor 4, the group of Vomeronasal receptors

Basic information

Region (hg38): 19:53266676-53267723

Links

ENSG00000228567NCBI:317703HGNC:19871Uniprot:Q7Z5H5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VN1R4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VN1R4 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
15
clinvar
1
clinvar
16
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 15 0 1

Variants in VN1R4

This is a list of pathogenic ClinVar variants found in the VN1R4 region.

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

Position Type Phenotype Significance ClinVar
19-53266810-T-G not specified Uncertain significance (Sep 27, 2021)2252214
19-53266833-G-A not specified Uncertain significance (Jun 24, 2022)2401313
19-53266896-G-A not specified Uncertain significance (Nov 18, 2023)3188713
19-53266900-T-C not specified Uncertain significance (Apr 12, 2023)2523096
19-53267008-T-C Benign (Dec 31, 2019)769464
19-53267031-C-T not specified Uncertain significance (Apr 17, 2024)3332122
19-53267061-A-G not specified Uncertain significance (Aug 17, 2021)2371294
19-53267062-T-C not specified Uncertain significance (Dec 20, 2022)2220723
19-53267172-C-A not specified Uncertain significance (Mar 20, 2024)3332124
19-53267241-T-C not specified Uncertain significance (Dec 07, 2021)2361966
19-53267250-A-G not specified Uncertain significance (Apr 26, 2023)2540935
19-53267289-T-C not specified Uncertain significance (Sep 30, 2021)2367074
19-53267412-T-C not specified Uncertain significance (Aug 12, 2021)2340524
19-53267464-C-T not specified Uncertain significance (Oct 12, 2022)2352944
19-53267475-T-A not specified Uncertain significance (Sep 01, 2021)2350137
19-53267484-C-T not specified Uncertain significance (Dec 21, 2023)3188712
19-53267601-C-G not specified Uncertain significance (May 06, 2024)3332123
19-53267620-C-T not specified Uncertain significance (Sep 16, 2021)2409606
19-53267629-A-G not specified Uncertain significance (Jun 10, 2024)3332125
19-53267655-C-T not specified Uncertain significance (Jul 25, 2023)2588719

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
VN1R4protein_codingprotein_codingENST00000311170 11044
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4511761601.100.000007891950
Missense in Polyphen2324.930.92257353
Synonymous-0.3646662.31.060.00000310603
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Function
FUNCTION: Putative pheromone receptor.;

Intolerance Scores

loftool
0.831
rvis_EVS
0.66
rvis_percentile_EVS
84.44

Haploinsufficiency Scores

pHI
0.0198
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Vmn1r237
Phenotype

Gene ontology

Biological process
G protein-coupled receptor signaling pathway;response to pheromone
Cellular component
plasma membrane;integral component of membrane
Molecular function
pheromone receptor activity