GPR87
Basic information
Region (hg38): 3:151294086-151316820
Previous symbols: [ "GPR95" ]
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 GPR87 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 | 32 | 33 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 32 | 1 | 0 |
Variants in GPR87
This is a list of pathogenic ClinVar variants found in the GPR87 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-151294177-C-A | not specified | Uncertain significance (Oct 29, 2021) | ||
3-151294179-G-A | not specified | Uncertain significance (Oct 29, 2021) | ||
3-151294186-C-A | not specified | Uncertain significance (Oct 29, 2021) | ||
3-151294206-G-C | not specified | Uncertain significance (Jan 19, 2024) | ||
3-151294315-G-A | not specified | Uncertain significance (Jan 09, 2025) | ||
3-151294375-T-C | not specified | Uncertain significance (Jan 03, 2024) | ||
3-151294392-T-A | not specified | Uncertain significance (Nov 30, 2022) | ||
3-151294396-A-C | not specified | Uncertain significance (Jun 23, 2021) | ||
3-151294458-G-T | not specified | Uncertain significance (Jan 01, 2025) | ||
3-151294474-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
3-151294477-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
3-151294517-C-G | not specified | Uncertain significance (Apr 20, 2024) | ||
3-151294525-T-G | not specified | Uncertain significance (Oct 26, 2022) | ||
3-151294566-A-G | not specified | Uncertain significance (Aug 13, 2021) | ||
3-151294639-A-G | not specified | Uncertain significance (Sep 20, 2024) | ||
3-151294647-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
3-151294660-T-G | not specified | Uncertain significance (Oct 13, 2023) | ||
3-151294689-T-G | not specified | Uncertain significance (Aug 06, 2021) | ||
3-151294713-A-G | not specified | Uncertain significance (Jan 04, 2024) | ||
3-151294713-A-T | not specified | Uncertain significance (Oct 29, 2021) | ||
3-151294753-C-T | Likely benign (Dec 01, 2024) | |||
3-151294790-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
3-151294836-A-G | not specified | Uncertain significance (Apr 08, 2023) | ||
3-151294894-A-C | not specified | Uncertain significance (Feb 09, 2025) | ||
3-151294981-T-C | not specified | Uncertain significance (Sep 09, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPR87 | protein_coding | protein_coding | ENST00000260843 | 2 | 22850 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000481 | 0.423 | 125701 | 1 | 41 | 125743 | 0.000167 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.264 | 207 | 197 | 1.05 | 0.0000104 | 2366 |
Missense in Polyphen | 104 | 99.872 | 1.0413 | 1215 | ||
Synonymous | -0.522 | 82 | 76.2 | 1.08 | 0.00000447 | 688 |
Loss of Function | 0.506 | 9 | 10.8 | 0.834 | 6.92e-7 | 136 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000297 | 0.000297 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000435 | 0.000435 |
Finnish | 0.000185 | 0.000185 |
European (Non-Finnish) | 0.000141 | 0.000141 |
Middle Eastern | 0.000435 | 0.000435 |
South Asian | 0.000229 | 0.000229 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage. {ECO:0000269|PubMed:17905198, ECO:0000269|PubMed:19602589}.;
- Pathway
- GPCRs, Class A Rhodopsin-like
(Consensus)
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- loftool
- 0.553
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.37
Haploinsufficiency Scores
- pHI
- 0.228
- hipred
- N
- hipred_score
- 0.444
- ghis
- 0.536
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.136
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gpr87
- Phenotype
- skeleton phenotype; limbs/digits/tail phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;biological_process;G protein-coupled purinergic nucleotide receptor signaling pathway
- Cellular component
- plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled purinergic nucleotide receptor activity