GPR37
Basic information
Region (hg38): 7:124743885-124765792
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 GPR37 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 | 6 | |||||
missense | 28 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 28 | 2 | 6 |
Variants in GPR37
This is a list of pathogenic ClinVar variants found in the GPR37 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-124746578-T-C | not specified | Uncertain significance (Nov 11, 2024) | ||
7-124746590-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
7-124746639-T-G | Benign (Aug 07, 2018) | |||
7-124746761-A-G | not specified | Uncertain significance (May 10, 2024) | ||
7-124746787-A-C | not specified | Uncertain significance (Oct 12, 2024) | ||
7-124746788-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
7-124746848-G-T | not specified | Uncertain significance (Dec 28, 2022) | ||
7-124746892-C-T | not specified | Uncertain significance (May 13, 2024) | ||
7-124746905-T-C | not specified | Uncertain significance (May 18, 2022) | ||
7-124746917-T-G | not specified | Uncertain significance (May 02, 2024) | ||
7-124747052-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
7-124747086-T-C | Benign (Jun 06, 2018) | |||
7-124747106-T-C | not specified | Uncertain significance (Apr 12, 2023) | ||
7-124747254-T-G | not specified | Uncertain significance (Apr 25, 2023) | ||
7-124763966-C-A | Likely benign (Apr 16, 2018) | |||
7-124764108-T-C | not specified | Uncertain significance (Apr 05, 2023) | ||
7-124764130-T-C | not specified | Uncertain significance (Aug 14, 2023) | ||
7-124764155-G-A | Benign (Jun 06, 2018) | |||
7-124764180-C-A | not specified | Uncertain significance (Sep 11, 2024) | ||
7-124764186-A-T | not specified | Uncertain significance (Apr 28, 2023) | ||
7-124764192-T-C | not specified | Uncertain significance (Mar 15, 2024) | ||
7-124764210-T-C | not specified | Uncertain significance (Dec 27, 2022) | ||
7-124764254-C-A | Benign (Jul 10, 2018) | |||
7-124764294-C-A | Benign (Oct 02, 2018) | |||
7-124764347-C-A | not specified | Uncertain significance (Aug 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPR37 | protein_coding | protein_coding | ENST00000303921 | 2 | 19631 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000338 | 0.989 | 125721 | 0 | 27 | 125748 | 0.000107 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.839 | 316 | 361 | 0.876 | 0.0000191 | 3909 |
Missense in Polyphen | 109 | 136.77 | 0.79697 | 1509 | ||
Synonymous | 0.909 | 135 | 149 | 0.905 | 0.00000822 | 1316 |
Loss of Function | 2.26 | 9 | 19.9 | 0.452 | 0.00000102 | 219 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000295 | 0.000295 |
Ashkenazi Jewish | 0.000212 | 0.000198 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000328 | 0.000323 |
European (Non-Finnish) | 0.0000451 | 0.0000439 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000101 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade. {ECO:0000269|PubMed:11439185, ECO:0000269|PubMed:23690594, ECO:0000269|PubMed:9526070}.;
- Pathway
- Parkinson,s disease - Homo sapiens (human);Parkin-Ubiquitin Proteasomal System pathway;Parkinsons Disease Pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;role of parkin in ubiquitin-proteasomal pathway;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.166
Intolerance Scores
- loftool
- 0.152
- rvis_EVS
- -0.42
- rvis_percentile_EVS
- 25.64
Haploinsufficiency Scores
- pHI
- 0.851
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.504
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.799
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gpr37
- Phenotype
- normal 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;locomotion involved in locomotory behavior;dopamine biosynthetic process;positive regulation of MAPK cascade;positive regulation of dopamine metabolic process;negative regulation of hydrogen peroxide-induced cell death
- Cellular component
- ubiquitin ligase complex;endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;integral component of plasma membrane;receptor complex
- Molecular function
- G protein-coupled receptor activity;protein binding;G protein-coupled peptide receptor activity;Hsp70 protein binding;heat shock protein binding;ubiquitin protein ligase binding;prosaposin receptor activity;peptide binding