PTGER3
Basic information
Region (hg38): 1:70852353-71047816
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 PTGER3 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 | 19 | 21 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 19 | 3 | 1 |
Variants in PTGER3
This is a list of pathogenic ClinVar variants found in the PTGER3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-70952952-G-C | not specified | Uncertain significance (Oct 05, 2023) | ||
1-70952977-C-T | not specified | Likely benign (Aug 12, 2024) | ||
1-70952978-TG-T | Likely benign (Oct 30, 2019) | |||
1-70953013-T-A | not specified | Uncertain significance (Aug 12, 2021) | ||
1-70953052-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
1-70953784-T-A | not specified | Uncertain significance (Oct 26, 2024) | ||
1-70953785-C-A | not specified | Uncertain significance (Oct 26, 2024) | ||
1-71012314-C-A | not specified | Uncertain significance (Oct 03, 2022) | ||
1-71012393-A-G | not specified | Uncertain significance (Sep 28, 2022) | ||
1-71012411-T-C | not specified | Uncertain significance (Feb 14, 2023) | ||
1-71012447-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
1-71046758-C-T | not specified | Uncertain significance (Mar 04, 2024) | ||
1-71046884-A-G | not specified | Uncertain significance (Jan 12, 2024) | ||
1-71047088-A-G | not specified | Uncertain significance (Oct 10, 2023) | ||
1-71047339-C-G | not specified | Uncertain significance (Dec 03, 2024) | ||
1-71047364-G-A | not specified | Uncertain significance (Nov 03, 2023) | ||
1-71047457-G-C | not specified | Uncertain significance (Jun 12, 2023) | ||
1-71047467-G-C | Benign (Jun 15, 2018) | |||
1-71047492-C-A | not specified | Uncertain significance (Aug 12, 2024) | ||
1-71047514-T-G | not specified | Likely benign (Jun 24, 2022) | ||
1-71047531-C-T | not specified | Uncertain significance (Nov 17, 2023) | ||
1-71047555-C-T | not specified | Uncertain significance (Dec 03, 2021) | ||
1-71047562-C-G | not specified | Uncertain significance (Oct 07, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PTGER3 | protein_coding | protein_coding | ENST00000356595 | 4 | 195456 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.372 | 0.626 | 125741 | 0 | 7 | 125748 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.31 | 201 | 261 | 0.771 | 0.0000144 | 2659 |
Missense in Polyphen | 48 | 114.33 | 0.41985 | 1132 | ||
Synonymous | 0.616 | 106 | 114 | 0.927 | 0.00000671 | 885 |
Loss of Function | 2.63 | 3 | 13.4 | 0.224 | 6.19e-7 | 135 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000626 | 0.0000615 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for prostaglandin E2 (PGE2) (PubMed:8307176, PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium (PubMed:7883006, PubMed:8117308, PubMed:8135729, PubMed:7981210). Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to mucosal acidification, and thereby contributes to the protection of the mucosa against acid-induced ulceration. Not required for normal kidney function, normal urine volume and osmolality (By similarity). {ECO:0000250|UniProtKB:P30557, ECO:0000269|PubMed:7883006, ECO:0000269|PubMed:7981210, ECO:0000269|PubMed:8117308, ECO:0000269|PubMed:8135729, ECO:0000269|PubMed:8307176}.;
- Pathway
- Regulation of lipolysis in adipocytes - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Small Ligand GPCRs;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;eicosanoid metabolism;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.242
Intolerance Scores
- loftool
- 0.556
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63.2
Haploinsufficiency Scores
- pHI
- 0.323
- hipred
- Y
- hipred_score
- 0.610
- ghis
- 0.467
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.397
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ptger3
- Phenotype
- immune system phenotype; renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- ptger3
- Affected structure
- dorsal longitudinal anastomotic vessel
- Phenotype tag
- abnormal
- Phenotype quality
- hypoplastic
Gene ontology
- Biological process
- inflammatory response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell death;intestine smooth muscle contraction;positive regulation of fever generation;negative regulation of gastric acid secretion
- Cellular component
- nuclear envelope;plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- prostaglandin E receptor activity