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PYGB (phosphorylase, glycogen; brain)

Identity

Alias_namesbrain form
Other aliasGPBB
HGNC (Hugo) PYGB
LocusID (NCBI) 5834
Atlas_Id 47533
Location 20p11.21  [Link to chromosome band 20p11]
Location_base_pair Starts at 25228706 and ends at 25278648 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABHD12 (20p11.21) / PYGB (20p11.21)CLIP2 (7q11.23) / PYGB (20p11.21)LOC100507463 () / PYGB (20p11.21)
PYGB (20p11.21) / ACAA1 (3p22.2)PYGB (20p11.21) / ENTPD6 (20p11.21)PYGB (20p11.21) / PYGB (20p11.21)
PYGB (20p11.21) / TMEM53 (1p34.1)RPS6KA2 (6q27) / PYGB (20p11.21)

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)PYGB   9723
Cards
Entrez_Gene (NCBI)PYGB  5834  phosphorylase, glycogen; brain
AliasesGPBB
GeneCards (Weizmann)PYGB
Ensembl hg19 (Hinxton)ENSG00000100994 [Gene_View]  chr20:25228706-25278648 [Contig_View]  PYGB [Vega]
Ensembl hg38 (Hinxton)ENSG00000100994 [Gene_View]  chr20:25228706-25278648 [Contig_View]  PYGB [Vega]
ICGC DataPortalENSG00000100994
TCGA cBioPortalPYGB
AceView (NCBI)PYGB
Genatlas (Paris)PYGB
WikiGenes5834
SOURCE (Princeton)PYGB
Genetics Home Reference (NIH)PYGB
Genomic and cartography
GoldenPath hg19 (UCSC)PYGB  -     chr20:25228706-25278648 +  20p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PYGB  -     20p11.21   [Description]    (hg38-Dec_2013)
EnsemblPYGB - 20p11.21 [CytoView hg19]  PYGB - 20p11.21 [CytoView hg38]
Mapping of homologs : NCBIPYGB [Mapview hg19]  PYGB [Mapview hg38]
OMIM138550   
Gene and transcription
Genbank (Entrez)AB209080 AF432222 AK299697 AK309036 BC017045
RefSeq transcript (Entrez)NM_002862
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)PYGB
Cluster EST : UnigeneHs.368157 [ NCBI ]
CGAP (NCI)Hs.368157
Alternative Splicing GalleryENSG00000100994
Gene ExpressionPYGB [ NCBI-GEO ]   PYGB [ EBI - ARRAY_EXPRESS ]   PYGB [ SEEK ]   PYGB [ MEM ]
Gene Expression Viewer (FireBrowse)PYGB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5834
GTEX Portal (Tissue expression)PYGB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11216   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11216  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11216
Splice isoforms : SwissVarP11216
PhosPhoSitePlusP11216
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)PYGB
DMDM Disease mutations5834
Blocks (Seattle)PYGB
SuperfamilyP11216
Human Protein AtlasENSG00000100994
Peptide AtlasP11216
HPRD00720
IPIIPI00004358   IPI00789185   
Protein Interaction databases
DIP (DOE-UCLA)P11216
IntAct (EBI)P11216
FunCoupENSG00000100994
BioGRIDPYGB
STRING (EMBL)PYGB
ZODIACPYGB
Ontologies - Pathways
QuickGOP11216
Ontology : AmiGOprotein binding  cytoplasm  glycogen catabolic process  glycogen catabolic process  glycogen phosphorylase activity  glycogen phosphorylase activity  membrane  pyridoxal phosphate binding  extracellular exosome  
Ontology : EGO-EBIprotein binding  cytoplasm  glycogen catabolic process  glycogen catabolic process  glycogen phosphorylase activity  glycogen phosphorylase activity  membrane  pyridoxal phosphate binding  extracellular exosome  
Pathways : KEGGStarch and sucrose metabolism    Insulin signaling pathway   
NDEx NetworkPYGB
Atlas of Cancer Signalling NetworkPYGB
Wikipedia pathwaysPYGB
Orthology - Evolution
OrthoDB5834
GeneTree (enSembl)ENSG00000100994
Phylogenetic Trees/Animal Genes : TreeFamPYGB
HOVERGENP11216
HOGENOMP11216
Homologs : HomoloGenePYGB
Homology/Alignments : Family Browser (UCSC)PYGB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYGB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYGB
dbVarPYGB
ClinVarPYGB
1000_GenomesPYGB 
Exome Variant ServerPYGB
ExAC (Exome Aggregation Consortium)PYGB (select the gene name)
Genetic variants : HAPMAP5834
Genomic Variants (DGV)PYGB [DGVbeta]
DECIPHER (Syndromes)20:25228706-25278648  ENSG00000100994
CONAN: Copy Number AnalysisPYGB 
Mutations
ICGC Data PortalPYGB 
TCGA Data PortalPYGB 
Broad Tumor PortalPYGB
OASIS PortalPYGB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYGB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYGB
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 PYGB
DgiDB (Drug Gene Interaction Database)PYGB
DoCM (Curated mutations)PYGB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYGB (select a term)
intoGenPYGB
Cancer3DPYGB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138550   
Orphanet
MedgenPYGB
Genetic Testing Registry PYGB
NextProtP11216 [Medical]
TSGene5834
GENETestsPYGB
Huge Navigator PYGB [HugePedia]
snp3D : Map Gene to Disease5834
BioCentury BCIQPYGB
ClinGenPYGB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5834
Chemical/Pharm GKB GenePA34066
Clinical trialPYGB
Miscellaneous
canSAR (ICR)PYGB (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYGB
EVEXPYGB
GoPubMedPYGB
iHOPPYGB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:23:46 CET 2017

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