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PYGM (glycogen phosphorylase, muscle associated)

Identity

Alias_namesphosphorylase
Other alias-
HGNC (Hugo) PYGM
LocusID (NCBI) 5837
Atlas_Id 56428
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 64746389 and ends at 64760715 bp from pter ( according to hg38-Dec_2013)

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)PYGM   9726
Cards
Entrez_Gene (NCBI)PYGM  5837  glycogen phosphorylase, muscle associated
Aliases
GeneCards (Weizmann)PYGM
Ensembl hg19 (Hinxton)ENSG00000068976 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000068976 [Gene_View]  chr11:64746389-64760715 [Contig_View]  PYGM [Vega]
ICGC DataPortalENSG00000068976
TCGA cBioPortalPYGM
AceView (NCBI)PYGM
Genatlas (Paris)PYGM
WikiGenes5837
SOURCE (Princeton)PYGM
Genetics Home Reference (NIH)PYGM
Genomic and cartography
GoldenPath hg38 (UCSC)PYGM  -     chr11:64746389-64760715 -  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYGM  -     11q13.1   [Description]    (hg19-Feb_2009)
EnsemblPYGM - 11q13.1 [CytoView hg19]  PYGM - 11q13.1 [CytoView hg38]
Mapping of homologs : NCBIPYGM [Mapview hg19]  PYGM [Mapview hg38]
OMIM232600   608455   
Gene and transcription
Genbank (Entrez)AF066859 AJ572752 AK056607 AK057547 AK299376
RefSeq transcript (Entrez)NM_001164716 NM_005609
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYGM
Cluster EST : UnigeneHs.154084 [ NCBI ]
CGAP (NCI)Hs.154084
Alternative Splicing GalleryENSG00000068976
Gene ExpressionPYGM [ NCBI-GEO ]   PYGM [ EBI - ARRAY_EXPRESS ]   PYGM [ SEEK ]   PYGM [ MEM ]
Gene Expression Viewer (FireBrowse)PYGM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5837
GTEX Portal (Tissue expression)PYGM
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11217   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11217  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11217
Splice isoforms : SwissVarP11217
Catalytic activity : Enzyme2.4.1.1 [ Enzyme-Expasy ]   2.4.1.12.4.1.1 [ IntEnz-EBI ]   2.4.1.1 [ BRENDA ]   2.4.1.1 [ KEGG ]   
PhosPhoSitePlusP11217
Domaine pattern : Prosite (Expaxy)PHOSPHORYLASE (PS00102)   
Domains : Interpro (EBI)Glycg_phsphrylas    Glyco_trans_35   
Domain families : Pfam (Sanger)Phosphorylase (PF00343)   
Domain families : Pfam (NCBI)pfam00343   
Conserved Domain (NCBI)PYGM
DMDM Disease mutations5837
Blocks (Seattle)PYGM
PDB (SRS)1Z8D   
PDB (PDBSum)1Z8D   
PDB (IMB)1Z8D   
PDB (RSDB)1Z8D   
Structural Biology KnowledgeBase1Z8D   
SCOP (Structural Classification of Proteins)1Z8D   
CATH (Classification of proteins structures)1Z8D   
SuperfamilyP11217
Human Protein AtlasENSG00000068976
Peptide AtlasP11217
HPRD01986
IPIIPI00218130   IPI00909513   IPI01009320   IPI00657751   
Protein Interaction databases
DIP (DOE-UCLA)P11217
IntAct (EBI)P11217
FunCoupENSG00000068976
BioGRIDPYGM
STRING (EMBL)PYGM
ZODIACPYGM
Ontologies - Pathways
QuickGOP11217
Ontology : AmiGOnucleotide binding  protein binding  cytoplasm  cytosol  glycogen metabolic process  glycogen catabolic process  glycogen catabolic process  glycogen phosphorylase activity  pyridoxal phosphate binding  extracellular exosome  
Ontology : EGO-EBInucleotide binding  protein binding  cytoplasm  cytosol  glycogen metabolic process  glycogen catabolic process  glycogen catabolic process  glycogen phosphorylase activity  pyridoxal phosphate binding  extracellular exosome  
Pathways : KEGGStarch and sucrose metabolism    Insulin signaling pathway   
NDEx NetworkPYGM
Atlas of Cancer Signalling NetworkPYGM
Wikipedia pathwaysPYGM
Orthology - Evolution
OrthoDB5837
GeneTree (enSembl)ENSG00000068976
Phylogenetic Trees/Animal Genes : TreeFamPYGM
HOVERGENP11217
HOGENOMP11217
Homologs : HomoloGenePYGM
Homology/Alignments : Family Browser (UCSC)PYGM
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYGM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYGM
dbVarPYGM
ClinVarPYGM
1000_GenomesPYGM 
Exome Variant ServerPYGM
ExAC (Exome Aggregation Consortium)PYGM (select the gene name)
Genetic variants : HAPMAP5837
Genomic Variants (DGV)PYGM [DGVbeta]
DECIPHERPYGM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYGM 
Mutations
ICGC Data PortalPYGM 
TCGA Data PortalPYGM 
Broad Tumor PortalPYGM
OASIS PortalPYGM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYGM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYGM
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)Mendelian genes
BioMutasearch PYGM
DgiDB (Drug Gene Interaction Database)PYGM
DoCM (Curated mutations)PYGM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYGM (select a term)
intoGenPYGM
Cancer3DPYGM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232600    608455   
Orphanet17   
MedgenPYGM
Genetic Testing Registry PYGM
NextProtP11217 [Medical]
TSGene5837
GENETestsPYGM
Target ValidationPYGM
Huge Navigator PYGM [HugePedia]
snp3D : Map Gene to Disease5837
BioCentury BCIQPYGM
ClinGenPYGM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5837
Chemical/Pharm GKB GenePA34069
Clinical trialPYGM
Miscellaneous
canSAR (ICR)PYGM (select the gene name)
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYGM
EVEXPYGM
GoPubMedPYGM
iHOPPYGM
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 25 19:27:24 CEST 2017

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