TSEN54 (tRNA splicing endonuclease subunit 54)

2014-11-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
PCH2A,PCH4,PCH5,SEN54L,sen54
FUSION GENES

Other Information

Locus ID:

NCBI: 283989
MIM: 608755
HGNC: 27561
Ensembl: ENSG00000182173

Variants:

dbSNP: 283989
ClinVar: 283989
TCGA: ENSG00000182173
COSMIC: TSEN54

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182173ENST00000333213Q7Z6J9
ENSG00000182173ENST00000434205E7EN92
ENSG00000182173ENST00000545228J9JIH8
ENSG00000182173ENST00000578415J3QRQ5
ENSG00000182173ENST00000583173J3QLM6
ENSG00000182173ENST00000583818J3KRC5

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
187113682008tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.0
209567912010Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.0
213832262011Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.0
214687232011TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.0
249388312014A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.0
267019502015TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.0

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