GSTO1

glutathione S-transferase omega 1, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 10:104235356-104267459

Links

ENSG00000148834 ∙ NCBI:9446 ∙ OMIM:605482 ∙ HGNC:13312 ∙ Uniprot:P78417 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTO1 gene.

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.

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			7	1	2	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region				1	1	2
non coding						0
Total	0	0	7	2	2

Variants in GSTO1

This is a list of pathogenic ClinVar variants found in the GSTO1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-104254948-G-A			Benign (Apr 10, 2018)
10-104254967-G-A			Benign (Aug 21, 2018)
10-104254969-C-A			Likely benign (Apr 09, 2018)
10-104255187-C-T		not specified	Uncertain significance (Mar 26, 2024)
10-104255250-T-C		not specified	Uncertain significance (Jan 24, 2024)
10-104255261-A-G		not specified	Uncertain significance (Apr 17, 2024)
10-104259613-G-C		not specified	Uncertain significance (Mar 28, 2024)
10-104259701-G-T		not specified	Uncertain significance (Sep 15, 2021)
10-104259764-C-G		not specified	Uncertain significance (Jun 24, 2022)
10-104263010-G-A		not specified	Uncertain significance (Nov 14, 2023)
10-104263031-C-A		GSTO1-related disorder	Benign (Oct 17, 2019)
10-104263054-A-G		not specified	Uncertain significance (Feb 27, 2023)
10-104263070-T-G		not specified	Uncertain significance (Sep 23, 2023)
10-104263071-AGAG-A		GSTO1-related disorder	Likely benign (Jan 31, 2023)
10-104266106-C-T			Likely benign (Apr 09, 2018)
10-104266162-G-A		not specified	Uncertain significance (May 03, 2023)
10-104267319-G-A		not specified	Uncertain significance (Apr 20, 2024)
10-104267371-A-C		not specified	Uncertain significance (Apr 24, 2024)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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