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 GBE1

Basic gene info.	Gene symbol	GBE1
	Gene name	glucan (1,4-alpha-), branching enzyme 1
	Synonyms	APBD\|GBE\|GSD4
	Cytomap	UCSC genome browser: 3p12.3
	Genomic location	chr3 :81538849-81810950
	Type of gene	protein-coding
	RefGenes	NM_000158.3,
	Ensembl id	ENSG00000114480
	Description	1,4-alpha-glucan-branching enzymeamylo-(1,4 to 1,6) transglucosidaseamylo-(1,4 to 1,6) transglycosylasebrancher enzymeglycogen branching enzymeglycogen-branching enzyme
	Modification date	20141219
dbXrefs	MIM : 607839
	HGNC : HGNC
	Ensembl : ENSG00000114480
	HPRD : 01985
	Vega : OTTHUMG00000158978
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GBE1
	BioGPS: 2632
	Gene Expression Atlas: ENSG00000114480
	The Human Protein Atlas: ENSG00000114480
Pathway	NCI Pathway Interaction Database: GBE1
	KEGG: GBE1
	REACTOME: GBE1
	ConsensusPathDB
	Pathway Commons: GBE1
Metabolism	MetaCyc: GBE1
	HUMANCyc: GBE1
Regulation	Ensembl's Regulation: ENSG00000114480
	miRBase: chr3 :81,538,849-81,810,950
	TargetScan: NM_000158
	cisRED: ENSG00000114480
Context	iHOP: GBE1
	cancer metabolism search in PubMed: GBE1
	UCL Cancer Institute: GBE1
Assigned class in ccmGDB	C

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Phenotypic Information for GBE1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: GBE1
	Familial Cancer Database: GBE1

* 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
KEGG_STARCH_AND_SUCROSE_METABOLISM REACTOME_METABOLISM_OF_CARBOHYDRATES REACTOME_GLUCOSE_METABOLISM

Others
OMIM
Orphanet
Disease	KEGG Disease: GBE1
	MedGen: GBE1 (Human Medical Genetics with Condition)
	ClinVar: GBE1
Phenotype	MGI: GBE1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: GBE1

Mutations for GBE1

* 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

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- For Inter-chromosomal Variations

There's no inter-chromosomal structural variation.

- 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
pancreas	GBE1	chr3	81764439	81764459	GBE1	chr3	81711609	81711629

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 GBE1 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
BF346361	PLCB4	582	621	20	9149571	9149611	GBE1	621	648	3	81780156	81780186
CA428629	GBE1	2	120	3	81562616	81562736	ITGA3	118	556	17	48145617	48149439

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

Mutation type/ Tissue ID

brca

cns

cerv

endome

haematopo

kidn

Lintest

liver

lung

ovary

pancre

prost

skin

stoma

thyro

urina

Total # sample

GAIN (# sample)

LOSS (# sample)

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

: Non-synonymous mutation, : Synonymous mutation, Circle size denotes number of samples.
Maximum mutation count=3

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=52)	Stat. for Synonymous SNVs (# total SNVs=20)

Stat. for Deletions (# total SNVs=2)	Stat. for Insertions (# total SNVs=0)
	There's no inserted 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
chr3:81643118-81643118	p.R350H	3
chr3:81754677-81754677	p.G77G	3
chr3:81695576-81695576	p.G250A	2
chr3:81586104-81586104	p.M587I	2
chr3:81754702-81754702	p.F69C	2
chr3:81640303-81640303	p.S374*	2
chr3:81699052-81699052	p.S150S	2
chr3:81695559-81695559	p.F256V	1
chr3:81754708-81754708	p.D67V	1
chr3:81586234-81586234	p.G544E	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	4		13					1			2	2	2		1	9	4	1	13
# mutation	1	4		12					1			2	2	2		1	9	4	1	14
nonsynonymous SNV	1	3		9					1			2	2			1	9	4		10
synonymous SNV		1		3										2					1	4

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
chr3:81586104	p.S150S	2
chr3:81699052	p.R350H	2
chr3:81640218	p.T402T	2
chr3:81643118	p.M587I	2
chr3:81754734	p.L363F	1
chr3:81630387	p.D571D	1
chr3:81691953	p.L142F	1
chr3:81699046	p.R565W	1
chr3:81584455	p.R336K	1
chr3:81810599	p.K115N	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 GBE1 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 GBE1

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


ANO6,ATP6V1A,EOGT,CCNYL1,CD109,CHMP2B,CSGALNACT2, ERO1L,FERMT2,FNDC3B,FUT11,GBE1,ITGAV,ITGB1, KIAA1715,LIMS1,LOX,NCKAP1,P4HA1,PTPLB,ZNF654	ACAA2,ACO1,ACSS2,BNIP3,PQLC2L,CIDEC,FAM89A, GBE1,GYG2,HSDL2,MARC1,MTHFD1,PEX19,PFKFB1, PPARG,PPP1R1A,PRDX6,PRKAR2B,RNF157,STBD1,TSPAN3

BNIP3L,TMEM263,C4orf3,CA9,ERO1L,FUT11,GBE1, HIF1A,LDHA,MAPK6,P4HA1,PDK1,PFKFB3,PGAM1, PLOD2,SEC24D,SSR3,STC1,TMEM45A,TMTC3,ZNF654	ANXA2P1,CAND1,DLD,EPB41L2,FBXL17,GBE1,HNRNPK, HSPA4,IDE,INTS4P1,KIAA1279,NARS,PAK2,PARG, PPP3R1,PSMD1,RAB14,RDH8,UBE3A,UBP1,YME1L1

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 GBE1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category

DB Name

DB's ID and Url link

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
DB01033	glucan (1,4-alpha-), branching enzyme 1	approved	Mercaptopurine
DB00563	glucan (1,4-alpha-), branching enzyme 1	approved	Methotrexate

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Cross referenced IDs for GBE1

* 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