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

GARS1 (glycyl-tRNA synthetase 1)

Identity

Alias_namesCMT2D
GARS
Charcot-Marie-Tooth neuropathy 2D
glycyl-tRNA synthetase
Alias_symbol (synonym)GlyRS
DSMAV
SMAD1
Other aliasHMN5
HGNC (Hugo) GARS1
LocusID (NCBI) 2617
Atlas_Id 52713
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 30594893 and ends at 30634032 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)
CBX3 7p15.2 / GARS 7p14.3
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


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;7)(p14;p15) CBX3/GARS


External links

Nomenclature
HGNC (Hugo)GARS1   4162
LRG (Locus Reference Genomic)LRG_243
Cards
Entrez_Gene (NCBI)GARS1  2617  glycyl-tRNA synthetase 1
AliasesCMT2D; DSMAV; GARS; GlyRS; 
HMN5; SMAD1
GeneCards (Weizmann)GARS1
Ensembl hg19 (Hinxton)ENSG00000106105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106105 [Gene_View]  ENSG00000106105 [Sequence]  chr7:30594893-30634032 [Contig_View]  GARS1 [Vega]
ICGC DataPortalENSG00000106105
TCGA cBioPortalGARS1
AceView (NCBI)GARS1
Genatlas (Paris)GARS1
WikiGenes2617
SOURCE (Princeton)GARS1
Genetics Home Reference (NIH)GARS1
Genomic and cartography
GoldenPath hg38 (UCSC)GARS1  -     chr7:30594893-30634032 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GARS1  -     -   [Description]    (hg19-Feb_2009)
GoldenPathGARS1 - - [CytoView hg19]  GARS1 - - [CytoView hg38]
ImmunoBaseENSG00000106105
Mapping of homologs : NCBIGARS1 [Mapview hg19]  GARS1 [Mapview hg38]
OMIM600287   600794   601472   
Gene and transcription
Genbank (Entrez)AA464978 AA772440 AK074524 AK295490 AK310351
RefSeq transcript (Entrez)NM_001316772 NM_002047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GARS1
Alternative Splicing GalleryENSG00000106105
Gene ExpressionGARS1 [ NCBI-GEO ]   GARS1 [ EBI - ARRAY_EXPRESS ]   GARS1 [ SEEK ]   GARS1 [ MEM ]
Gene Expression Viewer (FireBrowse)GARS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2617
GTEX Portal (Tissue expression)GARS1
Human Protein AtlasENSG00000106105-GARS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41250   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41250  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41250
Splice isoforms : SwissVarP41250
PhosPhoSitePlusP41250
Domaine pattern : Prosite (Expaxy)AA_TRNA_LIGASE_II (PS50862)    WHEP_TRS_1 (PS00762)    WHEP_TRS_2 (PS51185)   
Domains : Interpro (EBI)aa-tRNA-synt_IIb    aa-tRNA-synth_II    Anticodon-bd    Anticodon-bd_dom_sf    Gly-tRNA_synthase/POLG2    GlyRS-like_core    S15_NS1_RNA-bd    tRNA-synt_gly    WHEP-TRS_dom   
Domain families : Pfam (Sanger)HGTP_anticodon (PF03129)    tRNA-synt_2b (PF00587)    WHEP-TRS (PF00458)   
Domain families : Pfam (NCBI)pfam03129    pfam00587    pfam00458   
Domain families : Smart (EMBL)WHEP-TRS (SM00991)  
Conserved Domain (NCBI)GARS1
DMDM Disease mutations2617
Blocks (Seattle)GARS1
PDB (RSDB)2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
PDB Europe2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
PDB (PDBSum)2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
PDB (IMB)2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
Structural Biology KnowledgeBase2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
SCOP (Structural Classification of Proteins)2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
CATH (Classification of proteins structures)2PME    2PMF    2Q5H    2Q5I    2ZT5    2ZT6    2ZT7    2ZT8    2ZXF    4KQE    4KR2    4KR3    4QEI    5E6M   
SuperfamilyP41250
Human Protein Atlas [tissue]ENSG00000106105-GARS1 [tissue]
Peptide AtlasP41250
HPRD02617
IPIIPI00783097   IPI00917627   IPI00917798   
Protein Interaction databases
DIP (DOE-UCLA)P41250
IntAct (EBI)P41250
FunCoupENSG00000106105
BioGRIDGARS1
STRING (EMBL)GARS1
ZODIACGARS1
Ontologies - Pathways
QuickGOP41250
Ontology : AmiGObis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity  glycine-tRNA ligase activity  glycine-tRNA ligase activity  glycine-tRNA ligase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cytosol  tRNA aminoacylation for protein translation  tRNA aminoacylation for protein translation  glycyl-tRNA aminoacylation  diadenosine tetraphosphate biosynthetic process  transferase activity  secretory granule  axon  identical protein binding  protein dimerization activity  extracellular exosome  mitochondrial glycyl-tRNA aminoacylation  
Ontology : EGO-EBIbis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity  glycine-tRNA ligase activity  glycine-tRNA ligase activity  glycine-tRNA ligase activity  protein binding  ATP binding  cytoplasm  mitochondrion  mitochondrial matrix  cytosol  cytosol  tRNA aminoacylation for protein translation  tRNA aminoacylation for protein translation  glycyl-tRNA aminoacylation  diadenosine tetraphosphate biosynthetic process  transferase activity  secretory granule  axon  identical protein binding  protein dimerization activity  extracellular exosome  mitochondrial glycyl-tRNA aminoacylation  
NDEx NetworkGARS1
Atlas of Cancer Signalling NetworkGARS1
Wikipedia pathwaysGARS1
Orthology - Evolution
OrthoDB2617
GeneTree (enSembl)ENSG00000106105
Phylogenetic Trees/Animal Genes : TreeFamGARS1
HOGENOMP41250
Homologs : HomoloGeneGARS1
Homology/Alignments : Family Browser (UCSC)GARS1
Gene fusions - Rearrangements
Fusion : MitelmanCBX3/GARS [7p15.2/7p14.3]  [t(7;7)(p14;p15)]  
Fusion PortalCBX3 7p15.2 GARS 7p14.3 BRCA
Fusion : QuiverGARS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGARS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GARS1
dbVarGARS1
ClinVarGARS1
1000_GenomesGARS1 
Exome Variant ServerGARS1
ExAC (Exome Aggregation Consortium)ENSG00000106105
GNOMAD BrowserENSG00000106105
Varsome BrowserGARS1
Genetic variants : HAPMAP2617
Genomic Variants (DGV)GARS1 [DGVbeta]
DECIPHERGARS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGARS1 
Mutations
ICGC Data PortalGARS1 
TCGA Data PortalGARS1 
Broad Tumor PortalGARS1
OASIS PortalGARS1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGARS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GARS1
DgiDB (Drug Gene Interaction Database)GARS1
DoCM (Curated mutations)GARS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GARS1 (select a term)
intoGenGARS1
Cancer3DGARS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600287    600794    601472   
Orphanet16916    14511   
DisGeNETGARS1
MedgenGARS1
Genetic Testing Registry GARS1
NextProtP41250 [Medical]
TSGene2617
GENETestsGARS1
Target ValidationGARS1
Huge Navigator GARS1 [HugePedia]
snp3D : Map Gene to Disease2617
BioCentury BCIQGARS1
ClinGenGARS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2617
Chemical/Pharm GKB GenePA28575
Clinical trialGARS1
Miscellaneous
canSAR (ICR)GARS1 (select the gene name)
HarmonizomeGARS1
DataMed IndexGARS1
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGARS1
EVEXGARS1
GoPubMedGARS1
iHOPGARS1
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 : Sun May 10 12:15:46 CEST 2020

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.