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

Cancer Cell Metabolism Gene Database

Cancer Cell Metabolism Gene DB

Home

	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 ABCC8

Basic gene info.	Gene symbol	ABCC8
	Gene name	ATP-binding cassette, sub-family C (CFTR/MRP), member 8
	Synonyms	ABC36\|HHF1\|HI\|HRINS\|MRP8\|PHHI\|SUR\|SUR1\|SUR1delta2\|TNDM2
	Cytomap	UCSC genome browser: 11p15.1
	Genomic location	chr11 :17414431-17498449
	Type of gene	protein-coding
	RefGenes	NM_000352.4, NM_001287174.1,
	Ensembl id	ENSG00000006071
	Description	ATP-binding cassette sub-family C member 8ATP-binding cassette transporter sub-family C member 8sulfonylurea receptor (hyperinsulinemia)sulfonylurea receptor 1
	Modification date	20141222
dbXrefs	MIM : 600509
	HGNC : HGNC
	Ensembl : ENSG00000006071
	HPRD : 02741
	Vega : OTTHUMG00000166316
Protein	UniProt: go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ABCC8
	BioGPS: 6833
	Gene Expression Atlas: ENSG00000006071
	The Human Protein Atlas: ENSG00000006071
Pathway	NCI Pathway Interaction Database: ABCC8
	KEGG: ABCC8
	REACTOME: ABCC8
	ConsensusPathDB
	Pathway Commons: ABCC8
Metabolism	MetaCyc: ABCC8
	HUMANCyc: ABCC8
Regulation	Ensembl's Regulation: ENSG00000006071
	miRBase: chr11 :17,414,431-17,498,449
	TargetScan: NM_000352
	cisRED: ENSG00000006071
Context	iHOP: ABCC8
	cancer metabolism search in PubMed: ABCC8
	UCL Cancer Institute: ABCC8
Assigned class in ccmGDB	C

Top

Phenotypic Information for ABCC8(metabolism pathway, cancer, disease, phenome)

Cancer Description
Cancer	CGAP: ABCC8
	Familial Cancer Database: ABCC8

* 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_INTEGRATION_OF_ENERGY_METABOLISM

Others
OMIM
Orphanet
Disease	KEGG Disease: ABCC8
	MedGen: ABCC8 (Human Medical Genetics with Condition)
	ClinVar: ABCC8
Phenotype	MGI: ABCC8 (International Mouse Phenotyping Consortium)
Phenotype	PhenomicDB: ABCC8

Mutations for ABCC8

* 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

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	ABCC8	chr11	17453097	17453117	NCR3LG1	chr11	17391321	17391341
ovary	ABCC8	chr11	17454824	17454844	DLG2	chr11	83818290	83818310

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 ABCC8 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

BF224199

ABCC8

151

17417185

17417468

ABCC8

149

420

17418463

17418734

Other DBs for Structural Variants

Structural Variants in Ensembl: go to Ensembl Structural variation

Structural Variants in dbVar: go to dbVar

Top

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)

Top

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

Top

Somatic Mutation Counts per Tissue in COSMIC data

Stat. for Non-Synonymous SNVs (# total SNVs=134)	Stat. for Synonymous SNVs (# total SNVs=53)

Stat. for Deletions (# total SNVs=2)	Stat. for Insertions (# total SNVs=1)

Top

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
chr11:17496474-17496474	p.F83F	4
chr11:17483288-17483288	p.V222M	3
chr11:17474774-17474774	p.Y356Y	3
chr11:17483187-17483187	p.I255I	3
chr11:17428206-17428206	p.R1098C	3
chr11:17418522-17418522	p.D1354N	3
chr11:17482058-17482058	p.E330K	3
chr11:17483345-17483345	p.E203K	3
chr11:17434263-17434263	p.R836*	2
chr11:17470125-17470125	p.D424N	2

Top

SNV Counts per Each Loci in TCGA data

: non-synonymous mutation, : synonymous mutation, Circle size denotes number of samples.
maximum mutation count=4

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	5	9	2	24	1		14		4			23	11	2	1		47	18	1	17
# mutation	5	9	2	27	1		13		4			26	11	2	1		65	21	1	30
nonsynonymous SNV	3	7	1	16	1		10		4			21	4	2			34	11		20
synonymous SNV	2	2	1	12			3					5	7		1		31	10	1	10

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])

Top

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
chr11:17496474	p.F83F,ABCC8	4
chr11:17434216	p.F851F,ABCC8	3
chr11:17436131	p.A1536T,ABCC8	2
chr11:17464360	p.R1123I,ABCC8	2
chr11:17483202	p.L341I,ABCC8	2
chr11:17470125	p.A1107D,ABCC8	2
chr11:17426064	p.V333I,ABCC8	2
chr11:17474821	p.I250I,ABCC8	2
chr11:17415246	p.D424N,ABCC8	2
chr11:17428178	p.I323I,ABCC8	2

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 ABCC8 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]

Top

Gene Expression for ABCC8

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))

Top

CNV vs Gene Expression Plot

* This plots show the correlation between CNV and gene expression.

: Open all plots for all cancer types

Top

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


ABCC8,APH1B,ASTN2,CACNA1D,CACNA2D2,CYB5D2,DISP2, EFCAB6,AMER3,FOXA1,KCNJ11,LOC283174,LRRC48,MAGI2, MAPK8IP1,NOVA1,RPH3AL,SALL2,SPTBN4,TMEM145,TMEM63C	ABCC8,ASTN2,BATF,C9orf152,COL4A5,COL4A6,DNAJC12, ETNK2,FAM81B,FOXL2,FTO,HMGCLL1,HS6ST2,KCNJ13, LEO1,MUC6,PAFAH2,SERPINA5,TBC1D8,WIF1,ZNF689

ABCC8,AMBN,CA8,CACNA1S,CCDC83,CDKAL1,DHRS2, EEF1DP3,FAM174B,FGF8,GFI1B,PTGDR2,IQCF2,IRGM, PCDHB13,PCDHB15,PKD1L3,SEZ6L,TCHHL1,TCN1,TOX	ABCC8,CACNA1A,CDH22,AMER3,KCTD19,KIAA1467,FAR2P1, MARCH4,PCSK1,PRB4,RIMBP2,RIMS2,SESN3,SLC18A1, SLC7A2,ST18,TBX6,UCN3,UPK3A,VWA5B2,ZNF507

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

: Open all plots for all cancer types

Top

Interacting Genes (from Pathway Commons)

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

Top

Pharmacological Information for ABCC8

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
DB00171	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved; nutraceutical	Adenosine triphosphate
DB00222	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Glimepiride
DB00672	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Chlorpropamide
DB00731	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved; investigational	Nateglinide
DB00912	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved; investigational	Repaglinide
DB01016	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Glyburide
DB01067	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Glipizide
DB01120	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Gliclazide
DB01124	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Tolbutamide
DB01251	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Gliquidone
DB01252	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved; investigational	Mitiglinide
DB01289	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Glisoxepide
DB01382	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Glycodiazine
DB01248	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved; investigational	Docetaxel
DB00515	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Cisplatin
DB00441	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Gemcitabine
DB01119	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	approved	Diazoxide

Top

Cross referenced IDs for ABCC8

* 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