TSEN2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TSEN2 (HGNC:28422) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tRNA splicing endonuclease subunit 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SEN2, SEN2L, MGC2776
- %HI
- 85.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.21(Read more about gnomAD LOEUF score)
- Cytoband
- 3p25.2
- Genomic Coordinates
-
GRCh37/hg19: chr3:12525979-12581123 NCBI Ensembl UCSC GRCh38/hg38: chr3:12480231-12539624 NCBI Ensembl UCSC - MANE Select Transcript
- NM_025265.4 ENST00000284995.11 (Read more about MANE Select)
- Function
- Constitutes one of the two 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... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-35154
ClinGen Curation ID:
CCID:008054
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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 type 2B Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)