TSEN54

Chr 17AR

tRNA splicing endonuclease subunit 54

Also known as: PCH2A, PCH4, PCH5, SEN54L, sen54

NCBI Gene: 283989ENSG00000182173UniProt: Q7Z6J9OMIM: 608755

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.883 OMIM phenotypes
Clinical Summary— TSEN54
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.03
OE 0.57 (0.38–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.92–1.11)
299 obs / 295.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.38–0.88)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 15 / 26.2Missense obs/exp: 299 / 295.4Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSEN54 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients