Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)

Identity

Alias (NCBI)ASPRS
LBSL
MT-ASPRS
mtAspRS
HGNC (Hugo) DARS2
HGNC Alias symbFLJ10514
mtAspRS
HGNC Alias nameaspartate tRNA ligase 2, mitochondrial
LocusID (NCBI) 55157
Atlas_Id 54247
Location 1q25.1  [Link to chromosome band 1q25]
Location_base_pair Starts at 173824673 and ends at 173858546 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CMBL (5p15.2) / DARS2 (1q25.1)DARS2 (1q25.1) / C20orf27 (20p13)DARS2 (1q25.1) / ZFR (5p13.3)
SUCO (1q24.3) / DARS2 (1q25.1)UCK2 (1q24.1) / DARS2 (1q25.1)ZFR (5p13.3) / DARS2 (1q25.1)
C1orf9 DARS2 1q25.1CMBL 5p15.2 / DARS2 1q25.1UCK2 1q24.1 / DARS2 1q25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(1;1)(q24;q25) SUCO/DARS2
t(1;1)(q24;q25) UCK2/DARS2
t(1;5)(q25;p13) ZFR/DARS2
t(1;5)(q25;p13) DARS2/ZFR
t(1;5)(q25;p15) CMBL/DARS2

External links

Nomenclature
HGNC (Hugo)DARS2   25538
Cards
Entrez_Gene (NCBI)DARS2  55157  aspartyl-tRNA synthetase 2, mitochondrial
AliasesASPRS; LBSL; MT-ASPRS; mtAspRS
GeneCards (Weizmann)DARS2
Ensembl hg19 (Hinxton)ENSG00000117593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117593 [Gene_View]  ENSG00000117593 [Sequence]  chr1:173824673-173858546 [Contig_View]  DARS2 [Vega]
ICGC DataPortalENSG00000117593
TCGA cBioPortalDARS2
AceView (NCBI)DARS2
Genatlas (Paris)DARS2
WikiGenes55157
SOURCE (Princeton)DARS2
Genetics Home Reference (NIH)DARS2
Genomic and cartography
GoldenPath hg38 (UCSC)DARS2  -     chr1:173824673-173858546 +  1q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DARS2  -     1q25.1   [Description]    (hg19-Feb_2009)
GoldenPathDARS2 - 1q25.1 [CytoView hg19]  DARS2 - 1q25.1 [CytoView hg38]
ImmunoBaseENSG00000117593
genome Data Viewer NCBIDARS2 [Mapview hg19]  
OMIM610956   611105   
Gene and transcription
Genbank (Entrez)AK001376 AK022754 AK290873 AL519850 AL833633
RefSeq transcript (Entrez)NM_001365212 NM_001365213 NM_018122
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DARS2
Alternative Splicing GalleryENSG00000117593
Gene ExpressionDARS2 [ NCBI-GEO ]   DARS2 [ EBI - ARRAY_EXPRESS ]   DARS2 [ SEEK ]   DARS2 [ MEM ]
Gene Expression Viewer (FireBrowse)DARS2 [ Firebrowse - Broad ]
GenevisibleExpression of DARS2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55157
GTEX Portal (Tissue expression)DARS2
Human Protein AtlasENSG00000117593-DARS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PI48   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PI48  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PI48
Splice isoforms : SwissVarQ6PI48
PhosPhoSitePlusQ6PI48
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)   
Domains : Interpro (EBI)Aa-tRNA-synt_II    aa-tRNA-synth_II    Asp-tRNA-ligase_1    Asp/Asn-tRNA-synth_IIb    GAD-like_sf    GAD_dom    NA-bd_OB-fold    NA-bd_OB_tRNA   
Domain families : Pfam (Sanger)GAD (PF02938)    tRNA-synt_2 (PF00152)    tRNA_anti-codon (PF01336)   
Domain families : Pfam (NCBI)pfam02938    pfam00152    pfam01336   
Conserved Domain (NCBI)DARS2
DMDM Disease mutations55157
Blocks (Seattle)DARS2
PDB (RSDB)4AH6   
PDB Europe4AH6   
PDB (PDBSum)4AH6   
PDB (IMB)4AH6   
Structural Biology KnowledgeBase4AH6   
SCOP (Structural Classification of Proteins)4AH6   
CATH (Classification of proteins structures)4AH6   
SuperfamilyQ6PI48
Human Protein Atlas [tissue]ENSG00000117593-DARS2 [tissue]
Peptide AtlasQ6PI48
HPRD07677
IPIIPI00100460   IPI00843782   
Protein Interaction databases
DIP (DOE-UCLA)Q6PI48
IntAct (EBI)Q6PI48
FunCoupENSG00000117593
BioGRIDDARS2
STRING (EMBL)DARS2
ZODIACDARS2
Ontologies - Pathways
QuickGOQ6PI48
Ontology : AmiGOtRNA binding  aspartate-tRNA ligase activity  protein binding  ATP binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  tRNA aminoacylation for protein translation  protein homodimerization activity  tRNA aminoacylation  aspartate-tRNA(Asn) ligase activity  mitochondrial asparaginyl-tRNA aminoacylation  mitochondrial asparaginyl-tRNA aminoacylation  
Ontology : EGO-EBItRNA binding  aspartate-tRNA ligase activity  protein binding  ATP binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  tRNA aminoacylation for protein translation  protein homodimerization activity  tRNA aminoacylation  aspartate-tRNA(Asn) ligase activity  mitochondrial asparaginyl-tRNA aminoacylation  mitochondrial asparaginyl-tRNA aminoacylation  
Pathways : KEGGAminoacyl-tRNA biosynthesis   
NDEx NetworkDARS2
Atlas of Cancer Signalling NetworkDARS2
Wikipedia pathwaysDARS2
Orthology - Evolution
OrthoDB55157
GeneTree (enSembl)ENSG00000117593
Phylogenetic Trees/Animal Genes : TreeFamDARS2
HOGENOMQ6PI48
Homologs : HomoloGeneDARS2
Homology/Alignments : Family Browser (UCSC)DARS2
Gene fusions - Rearrangements
Fusion : MitelmanCMBL/DARS2 [5p15.2/1q25.1]  
Fusion : MitelmanDARS2/ZFR [1q25.1/5p13.3]  
Fusion : MitelmanSUCO/DARS2 [1q24.3/1q25.1]  
Fusion : MitelmanUCK2/DARS2 [1q24.1/1q25.1]  
Fusion : MitelmanZFR/DARS2 [5p13.3/1q25.1]  
Fusion PortalC1orf9 DARS2 1q25.1 BRCA
Fusion PortalCMBL 5p15.2 DARS2 1q25.1 LUSC
Fusion PortalUCK2 1q24.1 DARS2 1q25.1 BLCA
Fusion : QuiverDARS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDARS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DARS2
dbVarDARS2
ClinVarDARS2
MonarchDARS2
1000_GenomesDARS2 
Exome Variant ServerDARS2
GNOMAD BrowserENSG00000117593
Varsome BrowserDARS2
Genetic variants : HAPMAP55157
Genomic Variants (DGV)DARS2 [DGVbeta]
DECIPHERDARS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDARS2 
Mutations
ICGC Data PortalDARS2 
TCGA Data PortalDARS2 
Broad Tumor PortalDARS2
OASIS PortalDARS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDARS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDARS2
Mutations and Diseases : HGMDDARS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DARS2
DgiDB (Drug Gene Interaction Database)DARS2
DoCM (Curated mutations)DARS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DARS2 (select a term)
intoGenDARS2
Cancer3DDARS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610956    611105   
Orphanet16739   
DisGeNETDARS2
MedgenDARS2
Genetic Testing Registry DARS2
NextProtQ6PI48 [Medical]
TSGene55157
GENETestsDARS2
Target ValidationDARS2
Huge Navigator DARS2 [HugePedia]
snp3D : Map Gene to Disease55157
BioCentury BCIQDARS2
ClinGenDARS2
Clinical trials, drugs, therapy
Protein Interactions : CTD55157
Pharm GKB GenePA142672015
Clinical trialDARS2
Miscellaneous
canSAR (ICR)DARS2 (select the gene name)
HarmonizomeDARS2
DataMed IndexDARS2
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDARS2
EVEXDARS2
GoPubMedDARS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:08:12 CEST 2020
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