GPR158
Basic information
Region (hg38): 10:25174802-25602229
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR158 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 | 1 | |||||
missense | 57 | 60 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 57 | 3 | 1 |
Variants in GPR158
This is a list of pathogenic ClinVar variants found in the GPR158 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-25175527-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
10-25175536-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
10-25175566-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
10-25175590-C-T | not specified | Uncertain significance (Nov 29, 2021) | ||
10-25175689-A-C | not specified | Uncertain significance (Jan 22, 2024) | ||
10-25175707-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
10-25175721-G-A | not specified | Uncertain significance (Apr 26, 2024) | ||
10-25175748-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
10-25175748-G-T | not specified | Uncertain significance (Apr 20, 2024) | ||
10-25175761-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
10-25175788-A-G | not specified | Uncertain significance (Mar 31, 2024) | ||
10-25175800-A-T | not specified | Uncertain significance (Jan 04, 2024) | ||
10-25175805-C-A | not specified | Uncertain significance (Mar 06, 2023) | ||
10-25175830-A-G | not specified | Uncertain significance (Feb 09, 2022) | ||
10-25175832-G-A | not specified | Likely benign (Nov 20, 2023) | ||
10-25175904-T-C | not specified | Likely benign (Aug 04, 2023) | ||
10-25175976-C-G | not specified | Uncertain significance (Jun 29, 2022) | ||
10-25175986-A-T | not specified | Uncertain significance (Dec 27, 2022) | ||
10-25176004-C-T | not specified | Uncertain significance (Aug 13, 2021) | ||
10-25176132-G-A | not specified | Uncertain significance (Dec 14, 2021) | ||
10-25176175-G-T | not specified | Uncertain significance (May 14, 2024) | ||
10-25176220-C-T | not specified | Uncertain significance (Feb 17, 2024) | ||
10-25176269-T-C | Likely benign (Oct 01, 2022) | |||
10-25176280-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
10-25221111-A-G | not specified | Uncertain significance (Jan 27, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPR158 | protein_coding | protein_coding | ENST00000376351 | 11 | 427165 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000551 | 0.999 | 125710 | 0 | 38 | 125748 | 0.000151 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.377 | 645 | 672 | 0.959 | 0.0000357 | 7885 |
Missense in Polyphen | 116 | 157.56 | 0.73624 | 1856 | ||
Synonymous | 0.115 | 263 | 265 | 0.991 | 0.0000143 | 2442 |
Loss of Function | 4.63 | 16 | 52.0 | 0.307 | 0.00000304 | 587 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000630 | 0.000629 |
Ashkenazi Jewish | 0.000101 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000324 | 0.000323 |
European (Non-Finnish) | 0.0000798 | 0.0000791 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000163 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Orphan receptor.;
Recessive Scores
- pRec
- 0.109
Intolerance Scores
- loftool
- 0.225
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 25.85
Haploinsufficiency Scores
- pHI
- 0.203
- hipred
- Y
- hipred_score
- 0.704
- ghis
- 0.584
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.885
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Gpr158
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; skeleton phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;protein localization to plasma membrane
- Cellular component
- plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled receptor activity