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 ABCB4

Basic gene info.	Gene symbol	ABCB4
	Gene name	ATP-binding cassette, sub-family B (MDR/TAP), member 4
	Synonyms	ABC21\|GBD1\|ICP3\|MDR2\|MDR2/3\|MDR3\|PFIC-3\|PGY3
	Cytomap	UCSC genome browser: 7q21.1
	Genomic location	chr7 :87031360-87105019
	Type of gene	protein-coding
	RefGenes	NM_000443.3, NM_018849.2,NM_018850.2,
	Ensembl id	ENSG00000005471
	Description	ATP-binding cassette sub-family B member 4P glycoprotein 3/multiple drug resistance 3P-glycoprotein 3P-glycoprotein-3/multiple drug resistance-3multidrug resistance protein 3multiple drug resistance 3
	Modification date	20141207
dbXrefs	MIM : 171060
	HGNC : HGNC
	Ensembl : ENSG00000005471
	HPRD : 01371
	Vega : OTTHUMG00000023396
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ABCB4
	BioGPS: 5244
	Gene Expression Atlas: ENSG00000005471
	The Human Protein Atlas: ENSG00000005471
Pathway	NCI Pathway Interaction Database: ABCB4
	KEGG: ABCB4
	REACTOME: ABCB4
	ConsensusPathDB
	Pathway Commons: ABCB4
Metabolism	MetaCyc: ABCB4
	HUMANCyc: ABCB4
Regulation	Ensembl's Regulation: ENSG00000005471
	miRBase: chr7 :87,031,360-87,105,019
	TargetScan: NM_000443
	cisRED: ENSG00000005471
Context	iHOP: ABCB4
	cancer metabolism search in PubMed: ABCB4
	UCL Cancer Institute: ABCB4
Assigned class in ccmGDB	C

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Phenotypic Information for ABCB4(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ABCB4
	Familial Cancer Database: ABCB4

* 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
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

Others
OMIM
Orphanet
Disease	KEGG Disease: ABCB4
	MedGen: ABCB4 (Human Medical Genetics with Condition)
	ClinVar: ABCB4
Phenotype	MGI: ABCB4 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ABCB4

Mutations for ABCB4

* 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
ovary	ABCB4	chr7	87058907	87058927		chr7	118123599	118123619
pancreas	ABCB4	chr7	87086664	87086684	ABCB4	chr7	87089933	87089953

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 ABCB4 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

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=5

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Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=159)	Stat. for Synonymous SNVs (# total SNVs=45)

Stat. for Deletions (# total SNVs=12)	Stat. for Insertions (# total SNVs=3)

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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
chr7:87074282-87074282	p.S339fs*3	4
chr7:87092091-87092091	p.G90E	3
chr7:87101970-87101970	p.T34T	3
chr7:87104707-87104707	p.I25I	3
chr7:87043015-87043015	p.E901*	3
chr7:87031414-87031414	p.*1280R	3
chr7:87031420-87031420	p.N1278D	2
chr7:87092212-87092212	p.D50N	2
chr7:87031542-87031542	p.Q1237R	2
chr7:87082321-87082321	p.R159*	2

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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=3

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	4	5		21	8		9		3			23	12	7	1	2	18	21	1	20
# mutation	4	5		23	8		10		3			26	13	7	1	2	21	21	1	34
nonsynonymous SNV	3	2		16	5		7		2			20	9	5	1		13	17	1	26
synonymous SNV	1	3		7	3		3		1			6	4	2		2	8	4		8

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
chr7:87101970	p.T34T,ABCB4	3
chr7:87032470	p.T685N,ABCB4	2
chr7:87032471	p.E470K,ABCB4	2
chr7:87056076	p.R545H,ABCB4	2
chr7:87069080	p.L1158P,ABCB4	2
chr7:87069667	p.L1158V,ABCB4	2
chr7:87092091	p.G90E,ABCB4	2
chr7:87056159	p.L962L,ABCB4	1
chr7:87072646	p.G189G,ABCB4	1
chr7:87035680	p.R797I,ABCB4	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 ABCB4 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 ABCB4

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


ABCB4,ANGPTL3,APOB,ASGR2,BMP10,C9,CATSPER1, CD22,CREB3L3,DBH,F2,FABP1,FGF23,ITIH1, ITIH3,PLG,SERPINA7,SLC17A2,SPP2,TM4SF5,VTN	ABCB4,BIN1,CFL2,CLCN4,CLIC5,CLTCL1,COX7A1, CUTC,DYSF,EYA4,FILIP1,FYCO1,IL17D,KCNJ12, MEF2C,MN1,PHKG1,PPAPDC3,TMOD1,TUBA8,ZNF106

ABCB4,APCDD1,BBS5,C2orf57,GLP1R,GLUL,HRNR, IGF2,INS-IGF2,KIAA0087,LOC92973,MPO,OR13J1,OR6B3, ORAI2,RLBP1,SLAMF6,SLC14A1,SLC22A9,TMEM204,TRIL	ABCB1,ABCB4,ABCG1,C1orf106,C1orf115,C2CD2L,COBL, DYRK2,GCOM1,HECA,IFNLR1,KCNK5,KIAA0247,LAMB3, MALL,NR1I2,PIGS,PTK2B,SGK223,SLC9A3R1,TGOLN2

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 ABCB4

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
DB00143	ATP-binding cassette, sub-family B (MDR/TAP), member 4	approved; nutraceutical	Glutathione
DB00997	ATP-binding cassette, sub-family B (MDR/TAP), member 4	approved; investigational	Doxorubicin
DB00382	ATP-binding cassette, sub-family B (MDR/TAP), member 4	approved	Tacrine

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Cross referenced IDs for ABCB4

* 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