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)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- pontocerebellar hypoplasia Monarch
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)