TSR1

Chr 17

TSR1 ribosome maturation factor

NCBI Gene: 55720ENSG00000167721UniProt: Q2NL82

Enables RNA binding activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

242
ClinVar variants
58
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TSR1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
58 Pathogenic / Likely Pathogenic· 171 VUS of 242 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.12LOEUF
pLI 0.000
Z-score 0.92
OE 0.85 (0.64–1.12)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.06Z-score
OE missense 1.01 (0.93–1.09)
445 obs / 441.2 exp
Tolerant

Tolerant to missense variation

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.0.85 (0.64–1.12)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.93–1.09)
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.1.03
0≤1.21.6
LoF obs/exp: 35 / 41.4Missense obs/exp: 445 / 441.2Syn Z: -0.33

ClinVar Variant Classifications

242 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic55
Likely Pathogenic3
VUS171
Likely Benign8
Benign5
55
Pathogenic
3
Likely Pathogenic
171
VUS
8
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
55
0
55
Likely Pathogenic
0
0
3
0
3
VUS
1
155
15
0
171
Likely Benign
0
6
2
0
8
Benign
0
2
2
1
5
Total1163771242

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

View in ClinVar →

Protein Context — Lollipop Plot

TSR1 · 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
Association of TSR1 Variants and Spontaneous Coronary Artery Dissection.
Sun Y et al.·J Am Coll Cardiol
2019
Pathogenic TSR1 Gene Variants in Patients With Spontaneous Coronary Artery Dissection.
Grond-Ginsbach C et al.·J Am Coll Cardiol
2019Cohort
The genetics of spontaneous coronary artery dissection: a scoping review.
Memar Montazerin S et al.·J Cardiovasc Med (Hagerstown)
2024Review
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.
Poznyakova J et al.·Clin Exp Pharmacol Physiol
2022Case report
Increased Expression and Prognostic Significance of BYSL in Melanoma.
Wang ZZ et al.·J Immunother
2024
Identification of Aspergillus sections Flavi, Nigri, and Fumigati and their differentiation using specific primers.
Ashtiani NM et al.·Infez Med
2017
Rapamycin administration is not a valid therapeutic strategy for every case of mitochondrial disease.
Barriocanal-Casado E et al.·EBioMedicine
2019
Aspergillus tanneri sp. nov., a new pathogen that causes invasive disease refractory to antifungal therapy.
Sugui JA et al.·J Clin Microbiol
2012Case report
Molecular Resonance Quantification and Label-Free Interactome Characterization of Total Proteome of Tumor Specimens Decipher Responder and Success Predictors in Colorectal Cancer Patients Treated With Panitumumab.
Quartier A et al.·Cancer Med
2025Cohort
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