GeneBe

NPSR1

neuropeptide S receptor 1, the group of Neuropeptide S receptor

Basic information

Region (hg38): 7:34658218-34878332

Previous symbols: [ "GPR154" ]

Links

ENSG00000187258 ∙ NCBI:387129 ∙ OMIM:608595 ∙ HGNC:23631 ∙ Uniprot:Q6W5P4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NPSR1 gene.

  • not_specified (21 variants)
  • not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPSR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207172.2. 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
1
clinvar
1
clinvar
 2
missense
21
clinvar
1
clinvar
 22
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 21 1 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NPSR1protein_codingprotein_codingENST00000359791 9220094
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.05e-90.42912513706111257480.00243
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3762242091.070.00001102444
Missense in Polyphen8068.711.1643871
Synonymous0.07438080.80.9890.00000457739
Loss of Function0.9891620.90.7660.00000123205

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.02830.0287
Ashkenazi Jewish0.000.00
East Asian0.0008720.000870
Finnish0.002400.00241
European (Non-Finnish)0.0003350.000334
Middle Eastern0.0008720.000870
South Asian0.0002620.000261
Other0.001470.00147

dbNSFP

Source: dbNSFP

Function
FUNCTION: G-protein coupled receptor for neuropeptide S (NPS) (PubMed:16790440). Promotes mobilization of intracellular Ca(2+) stores (PubMed:16790440). Inhibits cell growth in response to NPS binding (PubMed:15947423). Involved in pathogenesis of asthma and other IgE-mediated diseases. {ECO:0000269|PubMed:15312648, ECO:0000269|PubMed:15947423, ECO:0000269|PubMed:16790440}.;
Pathway
Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.193

Intolerance Scores

loftool
0.895
rvis_EVS
1.34
rvis_percentile_EVS
94.25

Haploinsufficiency Scores

pHI
0.234
hipred
N
hipred_score
0.187
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.152

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Npsr1
Phenotype
respiratory system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;positive regulation of release of sequestered calcium ion into cytosol
Cellular component
cytoplasm;plasma membrane;integral component of plasma membrane
Molecular function
vasopressin receptor activity;neuropeptide receptor activity