Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AARS (alanyl-tRNA synthetase)

Identity

Alias_symbol (synonym)CMT2N
Other aliasEIEE29
HGNC (Hugo) AARS
LocusID (NCBI) 16
Atlas_Id 60019
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 70252394 and ends at 70289509 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AARS (16q22.1) / AARS (16q22.1)AARS (16q22.1) / ABR (17p13.3)AARS (16q22.1) / COG4 (16q22.1)
AARS (16q22.1) / GPX3 (5q33.1)AARS (16q22.1) / HYDIN (16q22.2)AARS (16q22.1) / ITPR3 (6p21.31)
AARS (16q22.1) / LHFP (13q13.3)AARS (16q22.1) / ST3GAL2 (16q22.1)CD63 (12q13.2) / AARS (16q22.1)
PAK7 (20p12.2) / AARS (16q22.1)PDIA3 (15q15.3) / AARS (16q22.1)POLG2 (17q23.3) / AARS (16q22.1)
AARS ST3GAL2AARS COG4

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

 


External links

Nomenclature
HGNC (Hugo)AARS   20
LRG (Locus Reference Genomic)LRG_359
Cards
Entrez_Gene (NCBI)AARS  16  alanyl-tRNA synthetase
AliasesCMT2N; EIEE29
GeneCards (Weizmann)AARS
Ensembl hg19 (Hinxton)ENSG00000090861 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090861 [Gene_View]  chr16:70252394-70289509 [Contig_View]  AARS [Vega]
ICGC DataPortalENSG00000090861
TCGA cBioPortalAARS
AceView (NCBI)AARS
Genatlas (Paris)AARS
WikiGenes16
SOURCE (Princeton)AARS
Genetics Home Reference (NIH)AARS
Genomic and cartography
GoldenPath hg38 (UCSC)AARS  -     chr16:70252394-70289509 -  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AARS  -     16q22.1   [Description]    (hg19-Feb_2009)
EnsemblAARS - 16q22.1 [CytoView hg19]  AARS - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIAARS [Mapview hg19]  AARS [Mapview hg38]
OMIM601065   613287   616339   
Gene and transcription
Genbank (Entrez)AK222824 AK225116 AK299098 AK307782 BC011451
RefSeq transcript (Entrez)NM_001605
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AARS
Cluster EST : UnigeneHs.315137 [ NCBI ]
CGAP (NCI)Hs.315137
Alternative Splicing GalleryENSG00000090861
Gene ExpressionAARS [ NCBI-GEO ]   AARS [ EBI - ARRAY_EXPRESS ]   AARS [ SEEK ]   AARS [ MEM ]
Gene Expression Viewer (FireBrowse)AARS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)16
GTEX Portal (Tissue expression)AARS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49588   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49588  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49588
Splice isoforms : SwissVarP49588
PhosPhoSitePlusP49588
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II_ALA (PS50860)   
Domains : Interpro (EBI)Ala-tRNA-lgiase_IIc    Ala-tRNA-ligase_IIc_anticod-bd    Ala-tRNA-synth_IIc_core    Ala-tRNA-synth_IIc_N    Ala_tRNA_ligase_euk/bac    DHHA1_dom    Thr/Ala-tRNA-synth_IIc_edit    Transl_B-barrel    tRNA_SAD   
Domain families : Pfam (Sanger)DHHA1 (PF02272)    tRNA-synt_2c (PF01411)    tRNA_SAD (PF07973)   
Domain families : Pfam (NCBI)pfam02272    pfam01411    pfam07973   
Domain families : Smart (EMBL)tRNA_SAD (SM00863)  
Conserved Domain (NCBI)AARS
DMDM Disease mutations16
Blocks (Seattle)AARS
PDB (SRS)4XEM    4XEO    5KNN    5T5S    5T76   
PDB (PDBSum)4XEM    4XEO    5KNN    5T5S    5T76   
PDB (IMB)4XEM    4XEO    5KNN    5T5S    5T76   
PDB (RSDB)4XEM    4XEO    5KNN    5T5S    5T76   
Structural Biology KnowledgeBase4XEM    4XEO    5KNN    5T5S    5T76   
SCOP (Structural Classification of Proteins)4XEM    4XEO    5KNN    5T5S    5T76   
CATH (Classification of proteins structures)4XEM    4XEO    5KNN    5T5S    5T76   
SuperfamilyP49588
Human Protein AtlasENSG00000090861
Peptide AtlasP49588
HPRD03042
IPIIPI00027442   IPI00910701   
Protein Interaction databases
DIP (DOE-UCLA)P49588
IntAct (EBI)P49588
FunCoupENSG00000090861
BioGRIDAARS
STRING (EMBL)AARS
ZODIACAARS
Ontologies - Pathways
QuickGOP49588
Ontology : AmiGOtRNA binding  aminoacyl-tRNA editing activity  alanine-tRNA ligase activity  alanine-tRNA ligase activity  ATP binding  cytoplasm  mitochondrion  cytosol  cytosol  tRNA modification  tRNA aminoacylation for protein translation  alanyl-tRNA aminoacylation  regulation of translational fidelity  tRNA processing  membrane  amino acid binding  cerebellar Purkinje cell layer development  negative regulation of neuron apoptotic process  metal ion binding  neuromuscular process controlling balance  extracellular exosome  
Ontology : EGO-EBItRNA binding  aminoacyl-tRNA editing activity  alanine-tRNA ligase activity  alanine-tRNA ligase activity  ATP binding  cytoplasm  mitochondrion  cytosol  cytosol  tRNA modification  tRNA aminoacylation for protein translation  alanyl-tRNA aminoacylation  regulation of translational fidelity  tRNA processing  membrane  amino acid binding  cerebellar Purkinje cell layer development  negative regulation of neuron apoptotic process  metal ion binding  neuromuscular process controlling balance  extracellular exosome  
Pathways : KEGGAminoacyl-tRNA biosynthesis   
NDEx NetworkAARS
Atlas of Cancer Signalling NetworkAARS
Wikipedia pathwaysAARS
Orthology - Evolution
OrthoDB16
GeneTree (enSembl)ENSG00000090861
Phylogenetic Trees/Animal Genes : TreeFamAARS
HOVERGENP49588
HOGENOMP49588
Homologs : HomoloGeneAARS
Homology/Alignments : Family Browser (UCSC)AARS
Gene fusions - Rearrangements
Fusion: TCGAAARS ST3GAL2
Fusion: TCGAAARS COG4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAARS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AARS
dbVarAARS
ClinVarAARS
1000_GenomesAARS 
Exome Variant ServerAARS
ExAC (Exome Aggregation Consortium)AARS (select the gene name)
Genetic variants : HAPMAP16
Genomic Variants (DGV)AARS [DGVbeta]
DECIPHERAARS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAARS 
Mutations
ICGC Data PortalAARS 
TCGA Data PortalAARS 
Broad Tumor PortalAARS
OASIS PortalAARS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAARS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAARS
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
BioMutasearch AARS
DgiDB (Drug Gene Interaction Database)AARS
DoCM (Curated mutations)AARS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AARS (select a term)
intoGenAARS
Cancer3DAARS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601065    613287    616339   
Orphanet19077    23427   
MedgenAARS
Genetic Testing Registry AARS
NextProtP49588 [Medical]
TSGene16
GENETestsAARS
Target ValidationAARS
Huge Navigator AARS [HugePedia]
snp3D : Map Gene to Disease16
BioCentury BCIQAARS
ClinGenAARS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD16
Chemical/Pharm GKB GenePA24367
Clinical trialAARS
Miscellaneous
canSAR (ICR)AARS (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAARS
EVEXAARS
GoPubMedAARS
iHOPAARS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 15:36:58 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.