Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

GYS1 (glycogen synthase 1)

Identity

Alias_namesGYS
glycogen synthase 1 (muscle)
Alias_symbol (synonym)GSY
HGNC (Hugo) GYS1
LocusID (NCBI) 2997
Atlas_Id 51017
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49471382 and ends at 49496610 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BRF1 (14q32.33) / GYS1 (19q13.33)GYS1 (19q13.33) / CPXM1 (20p13)GYS1 (19q13.33) / EML2 (19q13.32)
GYS1 (19q13.33) / HOMER3 (19p13.11)GYS1 (19q13.33) / HSPA14 (10p13)GYS1 (19q13.33) / PPFIA3 (19q13.33)
KCNN4 (19q13.31) / GYS1 (19q13.33)MYH7 (14q11.2) / GYS1 (19q13.33)VPS26A (10q22.1) / GYS1 (19q13.33)
GYS1 19q13.33 / EML2 19q13.32GYS1 19q13.33 / HOMER3 19p13.11

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Glycogen storage disease type I (GSD I)


External links

Nomenclature
HGNC (Hugo)GYS1   4706
Cards
Entrez_Gene (NCBI)GYS1  2997  glycogen synthase 1
AliasesGSY; GYS
GeneCards (Weizmann)GYS1
Ensembl hg19 (Hinxton)ENSG00000104812 [Gene_View]  chr19:49471382-49496610 [Contig_View]  GYS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104812 [Gene_View]  chr19:49471382-49496610 [Contig_View]  GYS1 [Vega]
ICGC DataPortalENSG00000104812
TCGA cBioPortalGYS1
AceView (NCBI)GYS1
Genatlas (Paris)GYS1
WikiGenes2997
SOURCE (Princeton)GYS1
Genetics Home Reference (NIH)GYS1
Genomic and cartography
GoldenPath hg19 (UCSC)GYS1  -     chr19:49471382-49496610 -  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GYS1  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblGYS1 - 19q13.33 [CytoView hg19]  GYS1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIGYS1 [Mapview hg19]  GYS1 [Mapview hg38]
OMIM138570   611556   
Gene and transcription
Genbank (Entrez)AK223579 AK291672 AK294349 AK300369 AK302738
RefSeq transcript (Entrez)NM_001161587 NM_002103
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_012923 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)GYS1
Cluster EST : UnigeneHs.386225 [ NCBI ]
CGAP (NCI)Hs.386225
Alternative Splicing GalleryENSG00000104812
Gene ExpressionGYS1 [ NCBI-GEO ]   GYS1 [ EBI - ARRAY_EXPRESS ]   GYS1 [ SEEK ]   GYS1 [ MEM ]
Gene Expression Viewer (FireBrowse)GYS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2997
GTEX Portal (Tissue expression)GYS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13807   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13807  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13807
Splice isoforms : SwissVarP13807
PhosPhoSitePlusP13807
Domains : Interpro (EBI)Glycogen_synth   
Domain families : Pfam (Sanger)Glycogen_syn (PF05693)   
Domain families : Pfam (NCBI)pfam05693   
Conserved Domain (NCBI)GYS1
DMDM Disease mutations2997
Blocks (Seattle)GYS1
SuperfamilyP13807
Human Protein AtlasENSG00000104812
Peptide AtlasP13807
HPRD00721
IPIIPI00303868   IPI01015254   IPI01014815   IPI00922475   IPI00877630   IPI00157144   
Protein Interaction databases
DIP (DOE-UCLA)P13807
IntAct (EBI)P13807
FunCoupENSG00000104812
BioGRIDGYS1
STRING (EMBL)GYS1
ZODIACGYS1
Ontologies - Pathways
QuickGOP13807
Ontology : AmiGOglycogen (starch) synthase activity  glycogen (starch) synthase activity  protein binding  glucose binding  cytosol  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  heart development  membrane  inclusion body  protein kinase binding  glycogen synthase activity, transferring glucose-1-phosphate  
Ontology : EGO-EBIglycogen (starch) synthase activity  glycogen (starch) synthase activity  protein binding  glucose binding  cytosol  glycogen biosynthetic process  glycogen biosynthetic process  glycogen biosynthetic process  heart development  membrane  inclusion body  protein kinase binding  glycogen synthase activity, transferring glucose-1-phosphate  
Pathways : KEGGStarch and sucrose metabolism    PI3K-Akt signaling pathway    Insulin signaling pathway   
NDEx NetworkGYS1
Atlas of Cancer Signalling NetworkGYS1
Wikipedia pathwaysGYS1
Orthology - Evolution
OrthoDB2997
GeneTree (enSembl)ENSG00000104812
Phylogenetic Trees/Animal Genes : TreeFamGYS1
HOVERGENP13807
HOGENOMP13807
Homologs : HomoloGeneGYS1
Homology/Alignments : Family Browser (UCSC)GYS1
Gene fusions - Rearrangements
Fusion : MitelmanGYS1/EML2 [19q13.33/19q13.32]  
Fusion : MitelmanGYS1/HOMER3 [19q13.33/19p13.11]  [t(19;19)(p13;q13)]  
Fusion: TCGAGYS1 19q13.33 EML2 19q13.32 BRCA
Fusion: TCGAGYS1 19q13.33 HOMER3 19p13.11 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGYS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GYS1
dbVarGYS1
ClinVarGYS1
1000_GenomesGYS1 
Exome Variant ServerGYS1
ExAC (Exome Aggregation Consortium)GYS1 (select the gene name)
Genetic variants : HAPMAP2997
Genomic Variants (DGV)GYS1 [DGVbeta]
DECIPHER (Syndromes)19:49471382-49496610  ENSG00000104812
CONAN: Copy Number AnalysisGYS1 
Mutations
ICGC Data PortalGYS1 
TCGA Data PortalGYS1 
Broad Tumor PortalGYS1
OASIS PortalGYS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGYS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGYS1
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 GYS1
DgiDB (Drug Gene Interaction Database)GYS1
DoCM (Curated mutations)GYS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GYS1 (select a term)
intoGenGYS1
Cancer3DGYS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138570    611556   
Orphanet16694   
MedgenGYS1
Genetic Testing Registry GYS1
NextProtP13807 [Medical]
TSGene2997
GENETestsGYS1
Huge Navigator GYS1 [HugePedia]
snp3D : Map Gene to Disease2997
BioCentury BCIQGYS1
ClinGenGYS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2997
Chemical/Pharm GKB GenePA29084
Clinical trialGYS1
Miscellaneous
canSAR (ICR)GYS1 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGYS1
EVEXGYS1
GoPubMedGYS1
iHOPGYS1
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 : Fri Nov 18 19:38:59 CET 2016

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.