GSTO1
glutathione S-transferase omega 1, the group of Soluble glutathione S-transferases
Basic information
Region (hg38): 10:104235356-104267459
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (25 variants)
- not_provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004832.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 24 | 27 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 24 | 2 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GSTO1 | protein_coding | protein_coding | ENST00000369713 | 6 | 32104 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 5.09e-9 | 0.0651 | 125707 | 0 | 41 | 125748 | 0.000163 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.391 | 114 | 126 | 0.902 | 0.00000600 | 1581 |
| Missense in Polyphen | 35 | 40.068 | 0.87351 | 472 | ||
| Synonymous | 0.518 | 46 | 50.7 | 0.907 | 0.00000247 | 441 |
| Loss of Function | -0.365 | 12 | 10.7 | 1.12 | 4.51e-7 | 138 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000247 | 0.000247 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000435 | 0.000435 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000210 | 0.000202 |
| Middle Eastern | 0.000435 | 0.000435 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.000360 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid. {ECO:0000269|PubMed:10783391, ECO:0000269|PubMed:11511179, ECO:0000269|PubMed:17226937, ECO:0000269|PubMed:18028863, ECO:0000269|PubMed:21106529}.;
- Pathway
- Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;Metapathway biotransformation Phase I and II;Methylation;Glutathione conjugation;Phase II - Conjugation of compounds;Vitamin C (ascorbate) metabolism;Biological oxidations;Metabolism;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors;arsenate detoxification I (glutaredoxin);ascorbate recycling (cytosolic)
(Consensus)
Recessive Scores
- pRec
- 0.340
Intolerance Scores
- loftool
- 0.931
- rvis_EVS
- 0.77
- rvis_percentile_EVS
- 87.01
Haploinsufficiency Scores
- pHI
- 0.109
- hipred
- N
- hipred_score
- 0.182
- ghis
- 0.425
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.709
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gsto1
- Phenotype
Gene ontology
- Biological process
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion;L-ascorbic acid metabolic process;methylation;interleukin-12-mediated signaling pathway;xenobiotic catabolic process;oxidation-reduction process;negative regulation of ryanodine-sensitive calcium-release channel activity;positive regulation of ryanodine-sensitive calcium-release channel activity;cellular response to arsenic-containing substance;cellular oxidant detoxification;glutathione derivative biosynthetic process
- Cellular component
- cytoplasm;cytosol;extracellular exosome
- Molecular function
- glutathione transferase activity;protein binding;oxidoreductase activity;glutathione dehydrogenase (ascorbate) activity;methylarsonate reductase activity