GPR160

G protein-coupled receptor 160, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 3:170037995-170085392

Links

ENSG00000173890NCBI:26996HGNC:23693Uniprot:Q9UJ42AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR160 gene.

  • not_specified (31 variants)
  • GPR160-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR160 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014373.3. 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
29
clinvar
2
clinvar
1
clinvar
32
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 29 2 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GPR160protein_codingprotein_codingENST00000355897 147475
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0007230.77312550701641256710.000653
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2111541620.9530.000007212221
Missense in Polyphen3737.6830.98187579
Synonymous0.6345157.10.8930.00000252631
Loss of Function1.0269.360.6413.89e-7142

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008790.000871
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.00009300.0000924
European (Non-Finnish)0.0003830.000378
Middle Eastern0.0002720.000272
South Asian0.003100.00281
Other0.0005040.000490

dbNSFP

Source: dbNSFP

Function
FUNCTION: Orphan receptor.;

Recessive Scores

pRec
0.0827

Intolerance Scores

loftool
0.574
rvis_EVS
0.37
rvis_percentile_EVS
75.12

Haploinsufficiency Scores

pHI
0.324
hipred
N
hipred_score
0.153
ghis
0.432

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.366

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gpr160
Phenotype

Gene ontology

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