Cancer Cell Metabolism Database ~~ Bioinformatics and Systems Medicine Laboratory ~~

Cancer Cell Metabolism Gene Database

Cancer Cell Metabolism Gene DB

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	Gene Summary
	Phenotypic Information (metabolism pathway, cancer, disease, phenome)
	Mutations : SVs, CNVs, SNVs
	Gene expression: GE, Protein, DEGE, CNV vs GE
	Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG
	Pharmacological Information: Drug-Gene Network
	Cross referenced IDs

Gene Summary for PRKAB1

Basic gene info.	Gene symbol	PRKAB1
	Gene name	protein kinase, AMP-activated, beta 1 non-catalytic subunit
	Synonyms	AMPK\|HAMPKb
	Cytomap	UCSC genome browser: 12q24.1-q24.3
	Genomic location	chr12 :120105760-120119429
	Type of gene	protein-coding
	RefGenes	NM_006253.4,
	Ensembl id	ENSG00000111725
	Description	5'-AMP-activated protein kinase beta-1 subunit5'-AMP-activated protein kinase subunit beta-1AMP-activated protein kinase beta subunitAMPK beta -1 chainAMPK beta 1AMPK subunit beta-1AMPKbprotein kinase, AMP-activated, noncatalytic, beta-1
	Modification date	20141207
dbXrefs	MIM : 602740
	HGNC : HGNC
	Ensembl : ENSG00000111725
	HPRD : 04116
	Vega : OTTHUMG00000168954
Protein	UniProt: Q9Y478 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_PRKAB1
	BioGPS: 5564
	Gene Expression Atlas: ENSG00000111725
	The Human Protein Atlas: ENSG00000111725
Pathway	NCI Pathway Interaction Database: PRKAB1
	KEGG: PRKAB1
	REACTOME: PRKAB1
	ConsensusPathDB
	Pathway Commons: PRKAB1
Metabolism	MetaCyc: PRKAB1
	HUMANCyc: PRKAB1
Regulation	Ensembl's Regulation: ENSG00000111725
	miRBase: chr12 :120,105,760-120,119,429
	TargetScan: NM_006253
	cisRED: ENSG00000111725
Context	iHOP: PRKAB1
	cancer metabolism search in PubMed: PRKAB1
	UCL Cancer Institute: PRKAB1
Assigned class in ccmGDB	B - This gene belongs to cancer gene.

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Phenotypic Information for PRKAB1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: PRKAB1
	Familial Cancer Database: PRKAB1

* This gene is included in those cancer gene databases.

						.
Oncogene ¹	Tumor Suppressor gene ²	Cancer Gene Census ³	CancerGenes ⁴	Network of Cancer Gene ⁵	Significant driver gene in	Therapeutic Vulnerabilities in Cancer¹

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
Nat Rev Drug Discovery, 2013, 12: 829, doi: 10.1038/nrd4145

Others
OMIM	602740; gene.
Orphanet
Disease	KEGG Disease: PRKAB1
	MedGen: PRKAB1 (Human Medical Genetics with Condition)
	ClinVar: PRKAB1
Phenotype	MGI: PRKAB1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: PRKAB1

Mutations for PRKAB1

* 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

There's no structural variation information in COSMIC data for this gene.

Related fusion transcripts : go to Chitars2.0

* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows PRKAB1 related fusion information.

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

Other DBs for Structural Variants

Structural Variants in Ensembl: go to Ensembl Structural variation

Structural Variants in dbVar: go to dbVar

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Copy Number Variations in COSMIC : go to COSMIC mutation CNV/Expr

There's no copy number variation information in COSMIC data for this gene.

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SNV Counts per Each Loci in COSMIC data : go to COSMIC point mutation

: Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=19)	Stat. for Synonymous SNVs (# total SNVs=8)

Stat. for Deletions (# total SNVs=0)	Stat. for Insertions (# total SNVs=2)
There's no deleted snv.

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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
chr12:120114410-120114410	p.R201W	2
chr12:120106082-120106082	p.L11L	2
chr12:120117793-120117793	p.A241V	2
chr12:120110208-120110208	p.G88R	2
chr12:120106160-120106160	p.L37L	2
chr12:120110270-120110270	p.?	1
chr12:120114386-120114386	p.V193I	1
chr12:120106178-120106178	p.D43D	1
chr12:120111817-120111817	p.Q124H	1
chr12:120114396-120114397	p.P196L	1

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SNV Counts per Each Loci in TCGA data

: non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=2

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		5			2					3					1	2		7
# mutation	2	1		5			2					3					1	2		8
nonsynonymous SNV		1		4			2					1					1	2		6
synonymous SNV	2			1								2								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
chr12:120110208	p.L37L	2
chr12:120117793	p.A241V	2
chr12:120106160	p.G88R	2
chr12:120114410	p.N110S	1
chr12:120117782	p.E120Q	1
chr12:120110257	p.Q124H	1
chr12:120111774	p.E139D	1
chr12:120118103	p.I152I	1
chr12:120106129	p.D175N	1
chr12:120111803	p.G27D	1

Other DBs for Point Mutations

Point Mutation Table of Ensembl: go to Ensembl variation table

Mutation of cBioPortal: go to cBioPortal's Cross-cancer alteration summary

Copy Number for PRKAB1 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 PRKAB1

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.

: Open all plots for all cancer types

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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

: Open all plots for all cancer types


ANKRA2,APH1B,C12orf43,C12orf76,COQ5,DAZAP2,DNALI1, FAM47E,KCNJ11,MLPH,P2RX4,PCBD2,PRKAB1,RNF10, SUOX,TCTN1,TCTN2,TMEM116,TTC8,UBE3B,USP30	BCL2L1,AAR2,CCDC115,GLOD4,CERS5,LHPP,MANBAL, MESDC2,PDCD6,PDIA3,POLR2G,PRKAB1,PSME1,RHBDD2, RPN1,STX5,TBL2,TMEM179B,TSPAN31,UFC1,WDR61

ACOX1,ACVR1B,CD24,CDX2,COG1,ENPP5,GPR160, HOXB9,IHH,MANSC1,NUDT4,PCTP,PRKAB1,PRR15, RAB5B,RXFP4,SHROOM1,SPAG1,USP30,WIPI1,WNK4	ADORA3,B4GALNT2,LINC01559,PPP1R36,SETD9,CELA3B,DEFB1, FAM195A,FAM45B,FUCA1,GDE1,LOC100216001,NMNAT1,NRAS, PHYH,PRKAB1,PTGER2,SPAG4,SRI,UOX,YBX2

Co-Expressed gene's Protein-protein interaction Network Plot

: Open all plots for all cancer types

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Interacting Genes (from Pathway Commons)

: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID

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Pharmacological Information for PRKAB1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category	DB Name	DB's ID and Url link
Chemistry	BindingDB	Q9Y478; -.
Chemistry	ChEMBL	CHEMBL2096907; -.
Organism-specific databases	PharmGKB	PA33746; -.
Organism-specific databases	CTD	5564; -.

Drug-Gene Interaction Network

* Gene Centered Interaction Network.

* Drug Centered Interaction Network.

DrugBank ID	Target Name	Drug Groups	Generic Name	Drug Centered Network	Drug Structure
DB00131	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved; nutraceutical	Adenosine monophosphate
DB00331	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved	Metformin
DB00877	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved; investigational	Sirolimus
DB00171	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved; nutraceutical	Adenosine triphosphate
DB00412	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved; investigational	Rosiglitazone
DB01132	protein kinase, AMP-activated, beta 1 non-catalytic subunit	approved; investigational	Pioglitazone

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Cross referenced IDs for PRKAB1

* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section

: Open all cross reference information