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 ABCG8
Basic gene info.Gene symbolABCG8
Gene nameATP-binding cassette, sub-family G (WHITE), member 8
SynonymsGBD4|STSL
CytomapUCSC genome browser: 2p21
Genomic locationchr2 :44066102-44105605
Type of geneprotein-coding
RefGenesNM_022437.2,
Ensembl idENSG00000143921
DescriptionATP-binding cassette sub-family G member 8ATP-binding cassette, subfamily G, member 8sterolin 2sterolin-2
Modification date20141222
dbXrefs MIM : 605460
HGNC : HGNC
Ensembl : ENSG00000143921
HPRD : 05679
Vega : OTTHUMG00000128756
ProteinUniProt: Q9H221
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ABCG8
BioGPS: 64241
Gene Expression Atlas: ENSG00000143921
The Human Protein Atlas: ENSG00000143921
PathwayNCI Pathway Interaction Database: ABCG8
KEGG: ABCG8
REACTOME: ABCG8
ConsensusPathDB
Pathway Commons: ABCG8
MetabolismMetaCyc: ABCG8
HUMANCyc: ABCG8
RegulationEnsembl's Regulation: ENSG00000143921
miRBase: chr2 :44,066,102-44,105,605
TargetScan: NM_022437
cisRED: ENSG00000143921
ContextiHOP: ABCG8
cancer metabolism search in PubMed: ABCG8
UCL Cancer Institute: ABCG8
Assigned class in ccmGDBA - This gene has a literature evidence and it belongs to cancer gene.
References showing role of ABCG8 in cancer cell metabolism1. Hlavata I, Mohelnikova-Duchonova B, Vaclavikova R, Liska V, Pitule P, et al. (2012) The role of ABC transporters in progression and clinical outcome of colorectal cancer. Mutagenesis 27: 187-196. doi: 10.1093/mutage/ger075. go to article
2. Patel SB (2014) Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Curr Opin Lipidol 25: 169-175. doi: 10.1097/MOL.0000000000000071. go to article

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Phenotypic Information for ABCG8(metabolism pathway, cancer, disease, phenome)
check002.gifCancer Description
Cancer CGAP: ABCG8
Familial Cancer Database: ABCG8
* 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/

check002.gifMetabolic Pathway Description
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS

check002.gifOthers
OMIM 210250; phenotype.
605460; gene.
611465; phenotype.
Orphanet 2882; Sitosterolemia.
DiseaseKEGG Disease: ABCG8
MedGen: ABCG8 (Human Medical Genetics with Condition)
ClinVar: ABCG8
PhenotypeMGI: ABCG8 (International Mouse Phenotyping Consortium)
PhenomicDB: ABCG8

Mutations for ABCG8
* 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.

check002.gifStructural Variants in COSMIC: go to COSMIC mutation histogram

- Statistics for Tissue and Mutation typeTop
- 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'.
SampleSymbol_aChr_aStart_aEnd_aSymbol_bChr_bStart_bEnd_b
ovaryABCG8chr24407546544075485ABCG8chr24407724244077262
pancreasABCG8chr24407999244080192ZNF521chr182289242922892629
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)

check002.gifRelated fusion transcripts : go to Chitars2.0
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ABCG8 related fusion information.
IDHead GeneTail Gene
AccessionGene_aqStart_aqEnd_aChromosome_atStart_atEnd_aGene_aqStart_aqEnd_aChromosome_atStart_atEnd_a

check002.gifOther DBs for Structural Variants
Structural Variants in Ensembl: go to Ensembl Structural variation
Structural Variants in dbVar: go to dbVar

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check002.gifCopy 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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check002.gifSNV 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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check002.gifSomatic Mutation Counts per Tissue in COSMIC data
Stat. for Non-Synonymous SNVs
(# total SNVs=75)
Stat. for Synonymous SNVs
(# total SNVs=27)
Stat. for Deletions
(# total SNVs=2)
Stat. for Insertions
(# total SNVs=0)
There's no inserted snv.

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check002.gifTop 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 positionMutation(aa)Unique sampleID count
chr2:44102409-44102409p.V538G3
chr2:44078951-44078951p.R184H3
chr2:44104775-44104775p.R611I3
chr2:44079618-44079618p.W229*2
chr2:44099383-44099383p.T383T2
chr2:44104812-44104812p.A623A2
chr2:44104732-44104732p.R597W2
chr2:44079738-44079738p.G232E2
chr2:44078853-44078853p.V151V2
chr2:44079912-44079912p.T290I2

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check002.gifSNV 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 ID1234567891011121314151617181920
# sample21281 7 4 11593  169310
# mutation212111 8 4 115103  219312
nonsynonymous SNV  191 6 3 11091  12626
synonymous SNV2112  2 1  512  9316
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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check002.gifTop 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 PositionMutation(aa)Unique sampleID count
chr2:44078951p.I307I3
chr2:44079964p.R184H3
chr2:44101062p.T290N2
chr2:44104732p.G232E2
chr2:44104775p.R597W2
chr2:44079738p.A450T2
chr2:44079912p.R611K2
chr2:44073366p.Y511H1
chr2:44079786p.A623A1
chr2:44078796p.G98W1

check002.gifOther 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

check002.gifCopy Number for ABCG8 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 ABCG8

check002.gifGene 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.

check002.gifDifferential 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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check002.gifCNV 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
check002.gifCo-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

A1BG,ABCG5,ABCG8,ALG1L,LINC00313,LSMEM2,CA5A,
F12,H3F3C,HAMP,HCCAT5,HYAL1,LEAP2,LOC84989,
MT1A,MT1DP,MT1F,POMC,PTH2,RIMBP3C,TMEM82
ABCG8,ADH1B,TRABD2A,HILPDA,CIDEA,DEFA6,DSG4,
ENOX1,GYS2,HADH,LOC283392,LOC401052,MAP3K5,NAALAD2,
NIPSNAP3B,PDK4,RGS17,RNF125,SLC19A3,TM7SF2,UTS2B

ABCG5,ABCG8,ACBD5,CREG2,CTAGE5,FAM169B,FGD4,
LYZ,MIA2,MLPH,MTMR10,MTUS1,PRSS12,PSAPL1,
RAB27B,SEMA4B,SLC9A4,SOCS6,SSTR1,TRAK1,ZMYND12
AADAC,ABCG5,ABCG8,ALDOB,APOA1,APOA4,C17orf78,
ERICH4,CEACAM20,CRISP1,DPEP1,ENPEP,FABP6,GSTA2,
GSTA5,KCNJ13,ONECUT3,SLC2A2,SLC7A9,SPA
check002.gifCo-Expressed gene's Protein-protein interaction 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

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check002.gifInteracting 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 ABCG8
check002.gifCross-referenced pharmacological DB IDs from Uniprot
DB CategoryDB NameDB's ID and Url link
Organism-specific databasesPharmGKB PA24412; -.
Organism-specific databasesCTD 64241; -.

check002.gifDrug-Gene Interaction Network
* Gene Centered Interaction Network.
* Drug Centered Interaction Network.
DrugBank IDTarget NameDrug GroupsGeneric NameDrug Centered NetworkDrug Structure
DB00973ATP-binding cassette, sub-family G (WHITE), member 8approvedEzetimibe
DB01076ATP-binding cassette, sub-family G (WHITE), member 8approvedAtorvastatin
DB01095ATP-binding cassette, sub-family G (WHITE), member 8approvedFluvastatin
DB00227ATP-binding cassette, sub-family G (WHITE), member 8approved; investigationalLovastatin
DB00175ATP-binding cassette, sub-family G (WHITE), member 8approvedPravastatin
DB01098ATP-binding cassette, sub-family G (WHITE), member 8approvedRosuvastatin
DB00641ATP-binding cassette, sub-family G (WHITE), member 8approvedSimvastatin


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Cross referenced IDs for ABCG8
* 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



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