Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PHKG1 (phosphorylase kinase catalytic subunit gamma 1)

Identity

Alias_namesPHKG
phosphorylase kinase
Other alias
HGNC (Hugo) PHKG1
LocusID (NCBI) 5260
Atlas_Id 43408
Location 7p11.2  [Link to chromosome band 7p11]
Location_base_pair Starts at 56080283 and ends at 56092996 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)
CHCHD2 (7p11.2) / PHKG1 (7p11.2)PSPH (7p11.2) / PHKG1 (7p11.2)PSPH 7p11.2 / PHKG1 7p11.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  PSPH/PHKG1 (7p11)


External links

Nomenclature
HGNC (Hugo)PHKG1   8930
Cards
Entrez_Gene (NCBI)PHKG1  5260  phosphorylase kinase catalytic subunit gamma 1
AliasesPHKG
GeneCards (Weizmann)PHKG1
Ensembl hg19 (Hinxton)ENSG00000164776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164776 [Gene_View]  ENSG00000164776 [Sequence]  chr7:56080283-56092996 [Contig_View]  PHKG1 [Vega]
ICGC DataPortalENSG00000164776
TCGA cBioPortalPHKG1
AceView (NCBI)PHKG1
Genatlas (Paris)PHKG1
WikiGenes5260
SOURCE (Princeton)PHKG1
Genetics Home Reference (NIH)PHKG1
Genomic and cartography
GoldenPath hg38 (UCSC)PHKG1  -     chr7:56080283-56092996 -  7p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHKG1  -     7p11.2   [Description]    (hg19-Feb_2009)
EnsemblPHKG1 - 7p11.2 [CytoView hg19]  PHKG1 - 7p11.2 [CytoView hg38]
Mapping of homologs : NCBIPHKG1 [Mapview hg19]  PHKG1 [Mapview hg38]
OMIM172470   
Gene and transcription
Genbank (Entrez)AK293180 AK299429 AK300928 AK309503 AK312851
RefSeq transcript (Entrez)NM_001258459 NM_001258460 NM_006213
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHKG1
Cluster EST : UnigeneHs.730821 [ NCBI ]
CGAP (NCI)Hs.730821
Alternative Splicing GalleryENSG00000164776
Gene ExpressionPHKG1 [ NCBI-GEO ]   PHKG1 [ EBI - ARRAY_EXPRESS ]   PHKG1 [ SEEK ]   PHKG1 [ MEM ]
Gene Expression Viewer (FireBrowse)PHKG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5260
GTEX Portal (Tissue expression)PHKG1
Human Protein AtlasENSG00000164776-PHKG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16816   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16816  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16816
Splice isoforms : SwissVarQ16816
Catalytic activity : Enzyme2.7.11.19 [ Enzyme-Expasy ]   2.7.11.192.7.11.19 [ IntEnz-EBI ]   2.7.11.19 [ BRENDA ]   2.7.11.19 [ KEGG ]   
PhosPhoSitePlusQ16816
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Phosph_kin_gamma    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)PHKG1
DMDM Disease mutations5260
Blocks (Seattle)PHKG1
SuperfamilyQ16816
Human Protein Atlas [tissue]ENSG00000164776-PHKG1 [tissue]
Peptide AtlasQ16816
HPRD01404
IPIIPI00922229   IPI00922459   IPI00220396   IPI00925573   IPI00927476   IPI00927700   
Protein Interaction databases
DIP (DOE-UCLA)Q16816
IntAct (EBI)Q16816
FunCoupENSG00000164776
BioGRIDPHKG1
STRING (EMBL)PHKG1
ZODIACPHKG1
Ontologies - Pathways
QuickGOQ16816
Ontology : AmiGOcalmodulin-dependent protein kinase activity  phosphorylase kinase activity  calmodulin binding  ATP binding  cytosol  phosphorylase kinase complex  carbohydrate metabolic process  glycogen biosynthetic process  protein phosphorylation  enzyme binding  tau-protein kinase activity  
Ontology : EGO-EBIcalmodulin-dependent protein kinase activity  phosphorylase kinase activity  calmodulin binding  ATP binding  cytosol  phosphorylase kinase complex  carbohydrate metabolic process  glycogen biosynthetic process  protein phosphorylation  enzyme binding  tau-protein kinase activity  
Pathways : KEGGCalcium signaling pathway    Insulin signaling pathway   
NDEx NetworkPHKG1
Atlas of Cancer Signalling NetworkPHKG1
Wikipedia pathwaysPHKG1
Orthology - Evolution
OrthoDB5260
GeneTree (enSembl)ENSG00000164776
Phylogenetic Trees/Animal Genes : TreeFamPHKG1
HOVERGENQ16816
HOGENOMQ16816
Homologs : HomoloGenePHKG1
Homology/Alignments : Family Browser (UCSC)PHKG1
Gene fusions - Rearrangements
Fusion : MitelmanPSPH/PHKG1 [7p11.2/7p11.2]  [t(7;7)(p11;p11)]  
Fusion PortalPSPH 7p11.2 PHKG1 7p11.2 BRCA
Fusion : QuiverPHKG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHKG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHKG1
dbVarPHKG1
ClinVarPHKG1
1000_GenomesPHKG1 
Exome Variant ServerPHKG1
ExAC (Exome Aggregation Consortium)ENSG00000164776
GNOMAD BrowserENSG00000164776
Varsome BrowserPHKG1
Genetic variants : HAPMAP5260
Genomic Variants (DGV)PHKG1 [DGVbeta]
DECIPHERPHKG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPHKG1 
Mutations
ICGC Data PortalPHKG1 
TCGA Data PortalPHKG1 
Broad Tumor PortalPHKG1
OASIS PortalPHKG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHKG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHKG1
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 PHKG1
DgiDB (Drug Gene Interaction Database)PHKG1
DoCM (Curated mutations)PHKG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHKG1 (select a term)
intoGenPHKG1
Cancer3DPHKG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM172470   
Orphanet677   
DisGeNETPHKG1
MedgenPHKG1
Genetic Testing Registry PHKG1
NextProtQ16816 [Medical]
TSGene5260
GENETestsPHKG1
Target ValidationPHKG1
Huge Navigator PHKG1 [HugePedia]
snp3D : Map Gene to Disease5260
BioCentury BCIQPHKG1
ClinGenPHKG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5260
Chemical/Pharm GKB GenePA33271
Clinical trialPHKG1
Miscellaneous
canSAR (ICR)PHKG1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHKG1
EVEXPHKG1
GoPubMedPHKG1
iHOPPHKG1
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 : Tue Nov 6 11:29:48 CET 2018

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