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PYGL (glycogen phosphorylase L)

Identity

Alias_namesphosphorylase, glycogen; liver
Other aliasGSD6
HGNC (Hugo) PYGL
LocusID (NCBI) 5836
Atlas_Id 72429
Location 14q22.1  [Link to chromosome band 14q22]
Location_base_pair Starts at 50905217 and ends at 50944530 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PYGL (14q22.1) / STON1-GTF2A1L (2p16.3)PYGL (14q22.1) / TRIM9 (14q22.1)

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

 


External links

Nomenclature
HGNC (Hugo)PYGL   9725
Cards
Entrez_Gene (NCBI)PYGL  5836  glycogen phosphorylase L
AliasesGSD6
GeneCards (Weizmann)PYGL
Ensembl hg19 (Hinxton)ENSG00000100504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100504 [Gene_View]  chr14:50905217-50944530 [Contig_View]  PYGL [Vega]
ICGC DataPortalENSG00000100504
TCGA cBioPortalPYGL
AceView (NCBI)PYGL
Genatlas (Paris)PYGL
WikiGenes5836
SOURCE (Princeton)PYGL
Genetics Home Reference (NIH)PYGL
Genomic and cartography
GoldenPath hg38 (UCSC)PYGL  -     chr14:50905217-50944530 -  14q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYGL  -     14q22.1   [Description]    (hg19-Feb_2009)
EnsemblPYGL - 14q22.1 [CytoView hg19]  PYGL - 14q22.1 [CytoView hg38]
Mapping of homologs : NCBIPYGL [Mapview hg19]  PYGL [Mapview hg38]
OMIM232700   613741   
Gene and transcription
Genbank (Entrez)AA523002 AF046785 AF066858 AK225904 AK300580
RefSeq transcript (Entrez)NM_001163940 NM_002863
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYGL
Cluster EST : UnigeneHs.282417 [ NCBI ]
CGAP (NCI)Hs.282417
Alternative Splicing GalleryENSG00000100504
Gene ExpressionPYGL [ NCBI-GEO ]   PYGL [ EBI - ARRAY_EXPRESS ]   PYGL [ SEEK ]   PYGL [ MEM ]
Gene Expression Viewer (FireBrowse)PYGL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5836
GTEX Portal (Tissue expression)PYGL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06737   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06737  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06737
Splice isoforms : SwissVarP06737
PhosPhoSitePlusP06737
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)PYGL
DMDM Disease mutations5836
Blocks (Seattle)PYGL
PDB (SRS)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
PDB (PDBSum)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
PDB (IMB)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
PDB (RSDB)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
Structural Biology KnowledgeBase1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
SCOP (Structural Classification of Proteins)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
CATH (Classification of proteins structures)1EM6    1EXV    1FA9    1FC0    1L5Q    1L5R    1L5S    1L7X    1XOI    2ATI    2QLL    2ZB2    3CEH    3CEJ    3CEM    3DD1    3DDS    3DDW   
SuperfamilyP06737
Human Protein AtlasENSG00000100504
Peptide AtlasP06737
HPRD01987
IPIIPI00783313   IPI00983592   IPI00787186   IPI00943894   IPI00977162   
Protein Interaction databases
DIP (DOE-UCLA)P06737
IntAct (EBI)P06737
FunCoupENSG00000100504
BioGRIDPYGL
STRING (EMBL)PYGL
ZODIACPYGL
Ontologies - Pathways
QuickGOP06737
Ontology : AmiGOpurine nucleobase binding  protein binding  ATP binding  glucose binding  extracellular region  cytoplasm  cytosol  glycogen metabolic process  glycogen catabolic process  glycogen catabolic process  5-phosphoribose 1-diphosphate biosynthetic process  drug binding  glycogen phosphorylase activity  glycogen phosphorylase activity  glycogen phosphorylase activity  AMP binding  vitamin binding  pyridoxal phosphate binding  bile acid binding  secretory granule lumen  glucose homeostasis  protein homodimerization activity  neutrophil degranulation  extracellular exosome  necroptotic process  ficolin-1-rich granule lumen  
Ontology : EGO-EBIpurine nucleobase binding  protein binding  ATP binding  glucose binding  extracellular region  cytoplasm  cytosol  glycogen metabolic process  glycogen catabolic process  glycogen catabolic process  5-phosphoribose 1-diphosphate biosynthetic process  drug binding  glycogen phosphorylase activity  glycogen phosphorylase activity  glycogen phosphorylase activity  AMP binding  vitamin binding  pyridoxal phosphate binding  bile acid binding  secretory granule lumen  glucose homeostasis  protein homodimerization activity  neutrophil degranulation  extracellular exosome  necroptotic process  ficolin-1-rich granule lumen  
Pathways : KEGGStarch and sucrose metabolism    Insulin signaling pathway   
NDEx NetworkPYGL
Atlas of Cancer Signalling NetworkPYGL
Wikipedia pathwaysPYGL
Orthology - Evolution
OrthoDB5836
GeneTree (enSembl)ENSG00000100504
Phylogenetic Trees/Animal Genes : TreeFamPYGL
HOVERGENP06737
HOGENOMP06737
Homologs : HomoloGenePYGL
Homology/Alignments : Family Browser (UCSC)PYGL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYGL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYGL
dbVarPYGL
ClinVarPYGL
1000_GenomesPYGL 
Exome Variant ServerPYGL
ExAC (Exome Aggregation Consortium)PYGL (select the gene name)
Genetic variants : HAPMAP5836
Genomic Variants (DGV)PYGL [DGVbeta]
DECIPHERPYGL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYGL 
Mutations
ICGC Data PortalPYGL 
TCGA Data PortalPYGL 
Broad Tumor PortalPYGL
OASIS PortalPYGL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYGL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYGL
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 PYGL
DgiDB (Drug Gene Interaction Database)PYGL
DoCM (Curated mutations)PYGL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYGL (select a term)
intoGenPYGL
Cancer3DPYGL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM232700    613741   
Orphanet18   
MedgenPYGL
Genetic Testing Registry PYGL
NextProtP06737 [Medical]
TSGene5836
GENETestsPYGL
Target ValidationPYGL
Huge Navigator PYGL [HugePedia]
snp3D : Map Gene to Disease5836
BioCentury BCIQPYGL
ClinGenPYGL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5836
Chemical/Pharm GKB GenePA34068
Clinical trialPYGL
Miscellaneous
canSAR (ICR)PYGL (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYGL
EVEXPYGL
GoPubMedPYGL
iHOPPYGL
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 18 13:35:43 CEST 2017

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