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 B4GALT1

Basic gene info.	Gene symbol	B4GALT1
	Gene name	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
	Synonyms	B4GAL-T1\|CDG2D\|GGTB2\|GT1\|GTB\|beta4Gal-T1
	Cytomap	UCSC genome browser: 9p13
	Genomic location	chr9 :33110638-33167356
	Type of gene	protein-coding
	RefGenes	NM_001497.3,
	Ensembl id	ENSG00000086062
	Description	UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1beta-1,4-GalTase 1beta-1,4-galactosyltransferase 1glycoprotein-4-beta-galactosyltransferase 2lactose synthase
	Modification date	20141219
dbXrefs	MIM : 137060
	HGNC : HGNC
	Ensembl : ENSG00000086062
	HPRD : 00659
	Vega : OTTHUMG00000019764
Protein	UniProt: P15291 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_B4GALT1
	BioGPS: 2683
	Gene Expression Atlas: ENSG00000086062
	The Human Protein Atlas: ENSG00000086062
Pathway	NCI Pathway Interaction Database: B4GALT1
	KEGG: B4GALT1
	REACTOME: B4GALT1
	ConsensusPathDB
	Pathway Commons: B4GALT1
Metabolism	MetaCyc: B4GALT1
	HUMANCyc: B4GALT1
Regulation	Ensembl's Regulation: ENSG00000086062
	miRBase: chr9 :33,110,638-33,167,356
	TargetScan: NM_001497
	cisRED: ENSG00000086062
Context	iHOP: B4GALT1
	cancer metabolism search in PubMed: B4GALT1
	UCL Cancer Institute: B4GALT1
Assigned class in ccmGDB	A - This gene has a literature evidence and it belongs to cancer gene.
References showing role of B4GALT1 in cancer cell metabolism	1. Ye Y, Zhou Y, Zhang L, Chen Y, Lyu X, et al. (2013) EBV-miR-BART1 is involved in regulating metabolism-associated genes in nasopharyngeal carcinoma. Biochem Biophys Res Commun 436: 19-24. doi: 10.1016/j.bbrc.2013.05.008. go to article

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Phenotypic Information for B4GALT1(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: B4GALT1
	Familial Cancer Database: B4GALT1

* 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_GALACTOSE_METABOLISM REACTOME_METABOLISM_OF_PROTEINS REACTOME_METABOLISM_OF_CARBOHYDRATES

Others
OMIM	137060; gene. 137060; gene. 607091; phenotype. 607091; phenotype.
Orphanet	79332; B4GALT1-CDG. 79332; B4GALT1-CDG.
Disease	KEGG Disease: B4GALT1
	MedGen: B4GALT1 (Human Medical Genetics with Condition)
	ClinVar: B4GALT1
Phenotype	MGI: B4GALT1 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: B4GALT1

Mutations for B4GALT1

* 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

* 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
ovary	B4GALT1	chr9	33115775	33115795	APTX	chr9	33000858	33000878

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 B4GALT1 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
EC510108	NMRAL1	1	52	16	4513740	4513791	B4GALT1	53	130	9	33111228	33111316
AI955342	B4GALT1	36	213	9	33110640	33110817	NUDT8	214	366	11	67397225	67397377
BE939488	B4GALT1	27	211	9	33110725	33110908	B4GALT1	207	266	9	33110918	33110977
BE466056	B4GALT1	1	61	9	33111195	33111254	B4GALT1	56	310	9	33112106	33112360

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=2

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=22)	Stat. for Synonymous SNVs (# total SNVs=6)

Stat. for Deletions (# total SNVs=1)	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
chr9:33166973-33166973	p.N65N	2
chr9:33113497-33113497	p.Y384Y	2
chr9:33135302-33135302	p.V178G	1
chr9:33113789-33113789	p.N349N	1
chr9:33166952-33166952	p.Q72Q	1
chr9:33120476-33120476	p.A259A	1
chr9:33135311-33135311	p.P175H	1
chr9:33113815-33113815	p.I341V	1
chr9:33120551-33120551	p.E234D	1
chr9:33135343-33135343	p.G164G	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	1	3		6								1	2				2	4		3
# mutation	1	3		8								1	2				2	4		3
nonsynonymous SNV	1	2		7								1	1				1	2		2
synonymous SNV		1		1									1				1	2		1

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
chr9:33167076	p.L292P	1
chr9:33113820	p.Q72Q	1
chr9:33135286	p.V271I	1
chr9:33113830	p.A31V	1
chr9:33135287	p.E234D	1
chr9:33113848	p.F232S	1
chr9:33135343	p.R224R	1
chr9:33116030	p.A217V	1
chr9:33135352	p.R185H	1
chr9:33116073	p.P183P	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 B4GALT1 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 B4GALT1

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


B4GALT1,BAG1,CEACAM8,CHST1,CLIC6,ECT2L,ELOVL5, GHSR,HIGD1A,INSL4,KIAA0087,KSR1,NFX1,P2RX6P, PLD1,SCGB1D2,SCGB2A2,SLC6A9,SMU1,SPINK4,UBAP1	ARF6,ARRDC3,B4GALT1,CHSY1,FAM60A,GNL3,MFSD6, NIP7,NOLC1,NOP58,NUFIP1,PPRC1,PVT1,QTRTD1, RAD18,RBM12,SRSF6,SH3BP4,SLC7A1,TEX10,WDR43

ARFGAP3,B4GALT1,C10orf54,MIR22HG,CCNG2,CD59,CDKN2B, ELL2,EMP1,EPAS1,GSN,IL4R,KIAA0247,FAM214B, LHFPL2,PDLIM5,SEC24A,SEC24D,SGMS2,TMEM127,UGCG	ATP2B1,B4GALT1,B4GALT5,DHRS9,DSC2,EHD4,FABP1, GPD2,HAS3,LANCL3,MAPRE3,MIER3,NT5C2,OXSR1, RNF6,SLC20A1,STK39,TMEM65,TMPRSS2,XIAP,YWHAB

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 B4GALT1

Cross-referenced pharmacological DB IDs from Uniprot

DB Category	DB Name	DB's ID and Url link
Chemistry	BindingDB	P15291; -.
Chemistry	ChEMBL	CHEMBL4384; -.
Chemistry	BindingDB	P15291; -.
Chemistry	ChEMBL	CHEMBL4384; -.
Organism-specific databases	PharmGKB	PA25223; -.
Organism-specific databases	PharmGKB	PA25223; -.
Organism-specific databases	CTD	2683; -.
Organism-specific databases	CTD	2683; -.

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
DB00141	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	approved; nutraceutical	N-Acetyl-D-glucosamine
DB02696	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	experimental	6-Aminohexyl-Uridine-C1,5'-Diphosphate
DB03013	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	experimental	Di(N-Acetyl-D-Glucosamine)
DB03501	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	experimental	Uridine Diphosphate Galactose
DB03685	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	experimental	Uridine-5'-Monophosphate
DB03814	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	experimental	2-(N-Morpholino)-Ethanesulfonic Acid

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Cross referenced IDs for B4GALT1

* 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