DARS2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DARS2 (HGNC:25538) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- aspartyl-tRNA synthetase 2, mitochondrial
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ10514, mtAspRS
- %HI
- 28.68(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.92(Read more about gnomAD LOEUF score)
- Cytoband
- 1q25.1
- Genomic Coordinates
-
GRCh37/hg19: chr1:173793811-173827684 NCBI Ensembl UCSC GRCh38/hg38: chr1:173824673-173858546 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018122.5 ENST00000649689.2 (Read more about MANE Select)
- Function
- Catalyzes the attachment of aspartate to tRNA(Asp) in a two- step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp). {ECO:0000269|PubMed:15779907, ECO:0000269|PubMed:23275545}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24038
ClinGen Curation ID:
CCID:006970
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:
- leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)