TSEN54
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TSEN54 (HGNC:27561) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tRNA splicing endonuclease subunit 54
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SEN54, SEN54L
%HI
62.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.26(Read more about gnomAD LOEUF score)
Cytoband
17q25.1
Genomic Coordinates
GRCh37/hg19: chr17:73512609-73520816 NCBI Ensembl UCSC
GRCh38/hg38: chr17:75516528-75524735 NCBI Ensembl UCSC
MANE Select Transcript
NM_207346.3 ENST00000333213.11 (Read more about MANE Select)
Function
Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance fr... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17447
ClinGen Curation ID:
CCID:008055
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic variants in the TSEN54 gene have been associated with the diseases Pontocerebellar hypoplasia, type 2A and Pontocerebellar hypoplasia type 4 in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, pontocerebellar hypoplasia (MONDO:0020135), has been selected for this curation."

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)