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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for PHKG2 |
Basic gene info. | Gene symbol | PHKG2 |
Gene name | phosphorylase kinase, gamma 2 (testis) | |
Synonyms | GSD9C | |
Cytomap | UCSC genome browser: 16p11.2 | |
Genomic location | chr16 :30759619-30772497 | |
Type of gene | protein-coding | |
RefGenes | NM_000294.2, NM_001172432.1, | |
Ensembl id | ENSG00000156873 | |
Description | PHK-gamma-LTPHK-gamma-TPSK-C3Phosphorylase kinase, gamma 2 (testis/liver)phosphorylase b kinase gamma catalytic chain, liver/testis isoformphosphorylase b kinase gamma catalytic chain, testis/liver isoformphosphorylase kinase subunit gamma-2serine/ | |
Modification date | 20141222 | |
dbXrefs | MIM : 172471 | |
HGNC : HGNC | ||
Ensembl : ENSG00000156873 | ||
HPRD : 01405 | ||
Vega : OTTHUMG00000132400 | ||
Protein | UniProt: P15735 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHKG2 | |
BioGPS: 5261 | ||
Gene Expression Atlas: ENSG00000156873 | ||
The Human Protein Atlas: ENSG00000156873 | ||
Pathway | NCI Pathway Interaction Database: PHKG2 | |
KEGG: PHKG2 | ||
REACTOME: PHKG2 | ||
ConsensusPathDB | ||
Pathway Commons: PHKG2 | ||
Metabolism | MetaCyc: PHKG2 | |
HUMANCyc: PHKG2 | ||
Regulation | Ensembl's Regulation: ENSG00000156873 | |
miRBase: chr16 :30,759,619-30,772,497 | ||
TargetScan: NM_000294 | ||
cisRED: ENSG00000156873 | ||
Context | iHOP: PHKG2 | |
cancer metabolism search in PubMed: PHKG2 | ||
UCL Cancer Institute: PHKG2 | ||
Assigned class in ccmGDB | B - This gene belongs to cancer gene. |
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Phenotypic Information for PHKG2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: PHKG2 |
Familial Cancer Database: PHKG2 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_CARBOHYDRATES REACTOME_GLUCOSE_METABOLISM |
Others | |
OMIM | 172471; gene. 613027; phenotype. |
Orphanet | 264580; Glycogen storage disease due to liver phosphorylase kinase deficiency. |
Disease | KEGG Disease: PHKG2 |
MedGen: PHKG2 (Human Medical Genetics with Condition) | |
ClinVar: PHKG2 | |
Phenotype | MGI: PHKG2 (International Mouse Phenotyping Consortium) |
PhenomicDB: PHKG2 |
Mutations for PHKG2 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
haematopoietic_and_lymphoid_tissue | PHKG2 | chr16 | 30763283 | 30763283 | PHKG2 | chr16 | 30763283 | 30763283 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows PHKG2 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF853022 | C16orf93 | 3 | 305 | 16 | 30772598 | 30772901 | PHKG2 | 299 | 416 | 16 | 30768842 | 30768958 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 | |||
LOSS (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=0) | (# total SNVs=1) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr16:30762590-30762590 | p.H87N | 1 |
chr16:30768418-30768418 | p.*407* | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 1 | 2 | 5 |   |   | 1 |   |   |   |   | 6 | 1 | 2 |   |   | 2 | 9 |   | 5 |
# mutation | 2 | 1 | 2 | 5 |   |   | 1 |   |   |   |   | 7 | 1 | 2 |   |   | 2 | 9 |   | 5 |
nonsynonymous SNV | 2 | 1 | 1 | 4 |   |   | 1 |   |   |   |   | 4 | 1 |   |   |   | 1 | 8 |   | 3 |
synonymous SNV |   |   | 1 | 1 |   |   |   |   |   |   |   | 3 |   | 2 |   |   | 1 | 1 |   | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr16:30764777 | p.R152Q,PHKG2 | 2 |
chr16:30762482 | p.L199I,PHKG2 | 1 |
chr16:30768183 | p.A51T,PHKG2 | 1 |
chr16:30762542 | p.R243L,PHKG2 | 1 |
chr16:30764791 | p.R71W,PHKG2 | 1 |
chr16:30768205 | p.R260H,PHKG2 | 1 |
chr16:30762555 | p.R75Q,PHKG2 | 1 |
chr16:30767523 | p.R293H,PHKG2 | 1 |
chr16:30768220 | p.T78R,PHKG2 | 1 |
chr16:30762564 | p.G296G,PHKG2 | 1 |
Other DBs for Point Mutations |
Copy Number for PHKG2 in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for PHKG2 |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
CD2BP2,ECI1,FAM195A,FLYWCH2,GFER,SLX1B,INO80E, JMJD8,MPG,KAT8,NME3,PHKG2,PIGQ,PPP4C, PRR14,RHOT2,SPSB3,STX4,TMEM219,ZNF688,ZNF768 | ATG4B,B3GAT3,BRMS1,VPS9D1,OXLD1,C19orf25,C9orf142, COQ4,HMG20B,LYPLA2,NMRAL1,PHKG2,PIGQ,QTRT1, RFXANK,SIRT6,TARBP2,TMEM141,TRAPPC6A,WDR34,ZNF446 |
AGAP4,ANKS3,ATG4B,BRICD5,C16orf93,CDK10,CENPT, EGFL8,FAM73B,INO80E,KIAA0895L,KAT8,NPIPB3,PHKG2, PRR14,RHOT2,SH2B1,TAF1C,TBC1D10B,ZNF768,ZNF789 | ASPSCR1,AUP1,DFFB,DUS3L,FASTK,FLAD1,FPGS, METTL17,MTX1,NOL12,PHKG2,PNKP,RASSF7,RPS6KB2, RPUSD1,SLC25A10,TAZ,TRMU,UCKL1,YIF1B,ZSCAN5A |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for PHKG2 |
There's no related Drug. |
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Cross referenced IDs for PHKG2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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