PTGES
prostaglandin E synthase
Basic information
Region (hg38): 9:129738331-129753042
Previous symbols: [ "MGST1L1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 PTGES 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 | 2 | |||||
| missense | 10 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 1 | 3 |
Variants in PTGES
This is a list of pathogenic ClinVar variants found in the PTGES region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-129739625-C-T | not specified | Uncertain significance (Feb 13, 2024) | ||
| 9-129739684-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
| 9-129739684-G-C | not specified | Uncertain significance (Feb 23, 2023) | ||
| 9-129739688-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
| 9-129739757-C-T | not specified | Uncertain significance (May 30, 2024) | ||
| 9-129739766-G-A | Uncertain significance (May 01, 2019) | |||
| 9-129748665-G-A | not specified | Uncertain significance (Mar 11, 2022) | ||
| 9-129748681-G-A | Benign (Oct 10, 2018) | |||
| 9-129748684-C-T | Benign (Dec 31, 2019) | |||
| 9-129752912-G-A | not specified | Uncertain significance (Jan 16, 2024) | ||
| 9-129752916-T-C | not specified | Uncertain significance (Dec 08, 2023) | ||
| 9-129752927-A-G | not specified | Uncertain significance (Aug 31, 2022) | ||
| 9-129752951-G-A | not specified | Uncertain significance (Aug 20, 2023) | ||
| 9-129752972-G-A | not specified | Uncertain significance (May 28, 2024) | ||
| 9-129752993-A-T | Benign (Jul 15, 2018) | |||
| 9-129752999-C-T | Likely benign (Jul 15, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PTGES | protein_coding | protein_coding | ENST00000340607 | 3 | 14717 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.713 | 0.274 | 121519 | 0 | 1 | 121520 | 0.00000411 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.31 | 56 | 91.1 | 0.615 | 0.00000508 | 957 |
| Missense in Polyphen | 5 | 35.929 | 0.13916 | 417 | ||
| Synonymous | -1.04 | 50 | 41.5 | 1.21 | 0.00000271 | 311 |
| Loss of Function | 1.88 | 0 | 4.11 | 0.00 | 1.74e-7 | 49 |
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) | 0.00000889 | 0.00000889 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). {ECO:0000269|PubMed:18682561}.;
- Pathway
- Arachidonic acid metabolism - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Eicosanoid Synthesis;Prostaglandin Synthesis and Regulation;eicosanoid metabolism;Metabolism of lipids;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Prostaglandin Leukotriene metabolism;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism;C20 prostanoid biosynthesis
(Consensus)
Recessive Scores
- pRec
- 0.337
Intolerance Scores
- loftool
- rvis_EVS
- 0.37
- rvis_percentile_EVS
- 75.12
Haploinsufficiency Scores
- pHI
- 0.124
- hipred
- N
- hipred_score
- 0.390
- ghis
- 0.402
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.926
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ptges
- Phenotype
- homeostasis/metabolism phenotype; cellular 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); immune system phenotype; hematopoietic system phenotype; 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- ptges
- Affected structure
- head
- Phenotype tag
- abnormal
- Phenotype quality
- position
Gene ontology
- Biological process
- prostaglandin biosynthetic process;acute inflammatory response;chronic inflammatory response;prostaglandin metabolic process;glutathione metabolic process;signal transduction;negative regulation of cell population proliferation;response to organic cyclic compound;cyclooxygenase pathway;response to lipopolysaccharide;response to retinoic acid;response to cytokine;response to calcium ion;oxidation-reduction process
- Cellular component
- nuclear envelope lumen;mitochondrion;endoplasmic reticulum membrane;membrane;integral component of membrane;perinuclear region of cytoplasm
- Molecular function
- glutathione transferase activity;glutathione binding;prostaglandin-E synthase activity