Identity
HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
PCH2A,PCH4,PCH5,SEN54L,sen54
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 283989
MIM: 608755
HGNC: 27561
Ensembl: ENSG00000182173
Variants:
dbSNP: 283989
ClinVar: 283989
TCGA: ENSG00000182173
COSMIC: TSEN54
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA processing in the nucleus | REACTOME | R-HSA-6784531 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37059591 | 2023 | Comprehensive analysis reveals TSEN54 as a robust prognosis biomarker and promising immune-related therapeutic target for hepatocellular carcinoma. | 0 |
| 37059591 | 2023 | Comprehensive analysis reveals TSEN54 as a robust prognosis biomarker and promising immune-related therapeutic target for hepatocellular carcinoma. | 0 |
| 32697043 | 2020 | A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. | 2 |
| 32697043 | 2020 | A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. | 2 |
| 26701950 | 2015 | TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. | 6 |
| 26701950 | 2015 | TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. | 6 |
| 24938831 | 2014 | A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. | 3 |
| 24938831 | 2014 | A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. | 3 |
| 21383226 | 2011 | Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. | 6 |
| 21468723 | 2011 | TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. | 9 |
| 21383226 | 2011 | Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. | 6 |
| 21468723 | 2011 | TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. | 9 |
| 20956791 | 2010 | Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. | 22 |
| 20956791 | 2010 | Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. | 22 |
| 18711368 | 2008 | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 101 |
Citation
Dessen P
TSEN54 (tRNA splicing endonuclease subunit 54)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75224/tsen54-(trna-splicing-endonuclease-subunit-54)
