TPST1

Chr 7

tyrosylprotein sulfotransferase 1

Also known as: TANGO13A

NCBI Gene: 8460ENSG00000169902UniProt: O60507

Enables protein homodimerization activity and protein-tyrosine sulfotransferase activity. Involved in post-translational protein modification. Located in Golgi membrane. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

67
ClinVar variants
16
Pathogenic / LP
0.29
pLI score
0
Active trials
Clinical Summary— TPST1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 49 VUS of 67 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.54LOEUF
pLI 0.292
Z-score 2.90
OE 0.24 (0.12–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.36Z-score
OE missense 0.74 (0.65–0.84)
155 obs / 210.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.24 (0.12–0.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.74 (0.65–0.84)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.87
0≤1.21.6
LoF obs/exp: 4 / 16.8Missense obs/exp: 155 / 210.3Syn Z: 0.84

ClinVar Variant Classifications

67 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic2
VUS49
Likely Benign2
14
Pathogenic
2
Likely Pathogenic
49
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
2
0
2
VUS
0
45
4
0
49
Likely Benign
0
0
2
0
2
Benign
0
0
0
0
0
Total04522067

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TPST1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Mass spectrometry (MS)-based proteomics and the sulfome: clinical potential.
Oswald SO et al.·Expert Rev Proteomics
2025Review
Mediating Mendelian randomization in the proteome identified potential drug targets for obesity-related allergic asthma.
Lin J et al.·Hereditas
2025
Identification and validation of a novel signature for prediction the prognosis and immunotherapy benefit in bladder cancer.
Zhang Y et al.·PeerJ
2022
Identifying critical genes associated with aneurysmal subarachnoid hemorrhage by weighted gene co-expression network analysis.
Yan Z et al.·Aging (Albany NY)
2021
A modified model of PANoptosisto identify prognosis and immunotherapy response in bladder cancer.
Lv W et al.·Int J Biochem Cell Biol
2024Functional
Characteristic changes in the mRNA expression profile of plasma exosomes from patients with MPO-ANCA-associated vasculitis and its possible correlations with pathogenesis.
Chen Y et al.·Clin Exp Med
2024Cohort
Comprehensive FGFR3 alteration-related transcriptomic characterization is involved in immune infiltration and correlated with prognosis and immunotherapy response of bladder cancer.
Xu T et al.·Front Immunol
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools