Gene
TSEN54
tRNA splicing endonuclease subunit 54
- HGNC 27561(opens in a new tab)
- Ensembl gene ENSG00000182173(opens in a new tab)
- NCBI Gene 283989(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 75,516,528–75,524,735 (GRCh38)
- Exons
- 11 exons across 8.2 kb
- Protein
- 526 amino acids
- Also known as
- SEN54, SEN54L
- MANE Select transcript
- ENST00000333213.11NM_207346.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How TSEN54 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 8.2 kb; 1,581 of those bases code for the protein.
How a genome test reads TSEN54
26
positions in TSEN54 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 8.2 kb of TSEN54, introns included, not only the 1.9 kb of exons.
Traits linked to TSEN54
The Human Phenotype Ontology lists these as features of the rare conditions TSEN54 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Gliosis
- Hypoplasia of the pons
- Jerking
- Loss of Purkinje cells in the cerebellar vermis
- Small cerebellum
- Cerebellar vermis hypoplasia
- Chorea
Show 26 more traits
- Choreoathetosis
- Difficulty sleeping
- Dystonia
- Generalized myoclonic seizure
- Hypoplasia of the ventral pons
- Severe global developmental delay
- Infantile spasms
- Motor delay
- Olivopontocerebellar hypoplasia
- Paroxysmal dystonia
- Small brainstem
- Abnormal cortical gyration
- Babinski sign
- Bilateral tonic-clonic seizure with generalized onset
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Dysplastic corpus callosum
- Simple febrile seizure
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Widened cerebellar subarachnoid space
- Cerebellar cyst
- Abnormal cerebral white matter morphology
- Abnormal periventricular white matter morphology
- Extrapyramidal dyskinesia
- Infantile encephalopathy
- Restlessness
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TSEN54 gene: tRNA splicing endonuclease subunit 54. Retrieved 16 October 2026, from https://dantelabs.com/genes/tsen54
Dante Labs. TSEN54 gene: tRNA splicing endonuclease subunit 54 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tsen54
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