The TSEN54 gene homepage

General information
Gene symbol TSEN54
Gene name tRNA splicing endonuclease 54 homolog (S. cerevisiae)
Chromosome 17
Chromosomal band q25.1
Imprinted Unknown
Genomic reference NG_013041.1
Transcript reference NM_207346.2
Exon/intron information NM_207346.2 exon/intron table
Associated with diseases PCH-2A, PCH-4, PCH-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 108
Unique public DNA variants reported 59
Individuals with public variants 30
Hidden variants 13
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 08, 2021
Version TSEN54:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_207346.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/TSEN54
HGNC 27561
Entrez Gene 283989
PubMed articles TSEN54
OMIM - Gene 608755
OMIM - Diseases PCH-2A (hypoplasia, pontocerebellar, type 2A (PCH-2A))
PCH-4 (hypoplasia, pontocerebellar, type 4 (PCH-4))
PCH-5 (hypoplasia, pontocerebellar?, type 5 (PCH-5))
HGMD TSEN54
GeneCards TSEN54
GeneTests TSEN54
Orphanet TSEN54


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021935 17 tRNA splicing endonuclease 54 homolog (S. cerevisiae) NM_207346.2 NP_997229.2 108


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