TSTD1

thiosulfate sulfurtransferase like domain containing 1

Basic information

Region (hg38): 1:161037631-161038977

Links

ENSG00000215845 ∙ NCBI:100131187 ∙ OMIM:616041 ∙ HGNC:35410 ∙ Uniprot:Q8NFU3 ∙ 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 TSTD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSTD1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in TSTD1

This is a list of pathogenic ClinVar variants found in the TSTD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-161037786-T-C		not specified	Uncertain significance (Jan 10, 2022)
1-161037821-C-T		not specified	Uncertain significance (Aug 17, 2022)
1-161037822-G-A		not specified	Uncertain significance (Jan 19, 2024)
1-161037931-C-A		not specified	Uncertain significance (Oct 05, 2023)
1-161037944-T-G		not specified	Uncertain significance (May 09, 2024)
1-161037959-G-A		not specified	Uncertain significance (Jan 05, 2022)
1-161038011-C-G		not specified	Uncertain significance (Feb 26, 2024)
1-161038057-G-T		not specified	Uncertain significance (May 31, 2023)
1-161038553-G-A		not specified	Uncertain significance (Apr 22, 2022)
1-161038559-T-C		not specified	Uncertain significance (Mar 24, 2023)
1-161038571-G-A		not specified	Uncertain significance (Jun 19, 2024)
1-161038634-G-A		not specified	Uncertain significance (Aug 13, 2021)
1-161038652-T-C		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TSTD1	protein_coding	protein_coding	ENST00000423014	4	1360

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.381	0.578	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.823	54	73.9	0.731	0.00000478	720
Missense in Polyphen		11	24.149	0.45551		244
Synonymous	0.375	27	29.6	0.912	0.00000184	237
Loss of Function	1.62	1	4.84	0.206	2.04e-7	62

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Thiosulfate:glutathione sulfurtransferase (TST) required to produce S-sulfanylglutathione (GSS(-)), a central intermediate in hydrogen sulfide metabolism (PubMed:24981631). Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate (PubMed:24981631). The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with thiosulfate as the sulfane donor (PubMed:24981631). {ECO:0000269|PubMed:24981631}.

Intolerance Scores

• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.81

Haploinsufficiency Scores

• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tstd1

Gene ontology

• Biological process: sulfide oxidation, using sulfide:quinone oxidoreductase
• Cellular component: cytoplasm;cytosol;cytoplasmic ribonucleoprotein granule;perinuclear region of cytoplasm
• Molecular function: thiosulfate-thiol sulfurtransferase activity