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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ABCG2 |
Basic gene info. | Gene symbol | ABCG2 |
Gene name | ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) | |
Synonyms | ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|GOUT1|MRX|MXR|MXR1|UAQTL1 | |
Cytomap | UCSC genome browser: 4q22 | |
Genomic location | chr4 :89011415-89152474 | |
Type of gene | protein-coding | |
RefGenes | NM_001257386.1, NM_004827.2, | |
Ensembl id | ENSG00000118777 | |
Description | ABC transporterATP-binding cassette sub-family G member 2ATP-binding cassette transporter G2breast cancer resistance proteinmitoxantrone resistance-associated proteinmulti drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) mem | |
Modification date | 20141222 | |
dbXrefs | MIM : 603756 | |
HGNC : HGNC | ||
Ensembl : ENSG00000118777 | ||
HPRD : 04783 | ||
Vega : OTTHUMG00000130601 | ||
Protein | UniProt: Q9UNQ0 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ABCG2 | |
BioGPS: 9429 | ||
Gene Expression Atlas: ENSG00000118777 | ||
The Human Protein Atlas: ENSG00000118777 | ||
Pathway | NCI Pathway Interaction Database: ABCG2 | |
KEGG: ABCG2 | ||
REACTOME: ABCG2 | ||
ConsensusPathDB | ||
Pathway Commons: ABCG2 | ||
Metabolism | MetaCyc: ABCG2 | |
HUMANCyc: ABCG2 | ||
Regulation | Ensembl's Regulation: ENSG00000118777 | |
miRBase: chr4 :89,011,415-89,152,474 | ||
TargetScan: NM_001257386 | ||
cisRED: ENSG00000118777 | ||
Context | iHOP: ABCG2 | |
cancer metabolism search in PubMed: ABCG2 | ||
UCL Cancer Institute: ABCG2 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of ABCG2 in cancer cell metabolism | 1. Jung KA, Choi BH, Kwak MK (2015) The c-MET/PI3K signaling is associated with cancer resistance to doxorubicin and photodynamic therapy by elevating BCRP/ABCG2 expression. Mol Pharmacol 87: 465-476. doi: 10.1124/mol.114.096065. go to article 2. Rao DK, Liu H, Ambudkar SV, Mayer M (2014) A combination of curcumin with either gramicidin or ouabain selectively kills cells that express the multidrug resistance-linked ABCG2 transporter. J Biol Chem 289: 31397-31410. doi: 10.1074/jbc.M114.576819. pmid: 4223339. go to article 3. Wu Y, Si R, Tang H, He Z, Zhu H, et al. (2015) Cholesterol reduces the sensitivity to platinum-based chemotherapy via upregulating ABCG2 in lung adenocarcinoma. Biochem Biophys Res Commun 457: 614-620. doi: 10.1016/j.bbrc.2015.01.035. go to article |
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Phenotypic Information for ABCG2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ABCG2 |
Familial Cancer Database: ABCG2 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
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/ |
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REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM |
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OMIM | 138900; phenotype. 138900; phenotype. 603756; gene. 603756; gene. 614490; phenotype. 614490; phenotype. |
Orphanet | |
Disease | KEGG Disease: ABCG2 |
MedGen: ABCG2 (Human Medical Genetics with Condition) | |
ClinVar: ABCG2 | |
Phenotype | MGI: ABCG2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ABCG2 |
Mutations for ABCG2 |
* 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. |
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- Statistics for Tissue and Mutation type | Top |
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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'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | ABCG2 | chr4 | 89083313 | 89083333 | HERC5 | chr4 | 89408891 | 89408911 |
ovary | ABCG2 | chr4 | 89140291 | 89140311 | ABCG2 | chr4 | 89142221 | 89142241 |
pancreas | ABCG2 | chr4 | 89050681 | 89050701 | PCGF3 | chr4 | 702315 | 702335 |
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) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ABCG2 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 |
AA001604 | ZKSCAN1 | 1 | 229 | 7 | 99629848 | 99630076 | ABCG2 | 225 | 421 | 4 | 89072429 | 89072623 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |
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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Stat. for Non-Synonymous SNVs (# total SNVs=74) | (# total SNVs=18) |
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(# total SNVs=4) | (# total SNVs=0) |
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* 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 |
chr4:89052323-89052323 | p.Q141K | 3 |
chr4:89042907-89042907 | p.E190G | 3 |
chr4:89034590-89034590 | p.S353S | 2 |
chr4:89018639-89018639 | p.T538R | 2 |
chr4:89053728-89053728 | p.S88L | 2 |
chr4:89061129-89061129 | p.E7K | 2 |
chr4:89039317-89039317 | p.G262E | 2 |
chr4:89042908-89042908 | p.E190* | 2 |
chr4:89060991-89060991 | p.L53V | 2 |
chr4:89052286-89052286 | p.T153M | 2 |
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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 |   | 14 | 3 |   | 3 |   | 2 | 3 |   | 15 | 3 |   |   |   | 9 | 7 |   | 15 |
# mutation |   | 1 |   | 14 | 3 |   | 3 |   | 2 | 3 |   | 14 | 3 |   |   |   | 11 | 7 |   | 20 |
nonsynonymous SNV |   |   |   | 10 | 2 |   | 2 |   | 2 | 2 |   | 9 | 2 |   |   |   | 7 | 4 |   | 15 |
synonymous SNV |   | 1 |   | 4 | 1 |   | 1 |   |   | 1 |   | 5 | 1 |   |   |   | 4 | 3 |   | 5 |
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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* 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 |
chr4:89042907 | p.E190G,ABCG2 | 3 |
chr4:89013497 | p.I619I | 2 |
chr4:89034589 | p.G354W,ABCG2 | 2 |
chr4:89034590 | p.S353S,ABCG2 | 2 |
chr4:89034556 | p.L405M,ABCG2 | 1 |
chr4:89052258 | p.E285E,ABCG2 | 1 |
chr4:89013464 | p.K177K,ABCG2 | 1 |
chr4:89036170 | p.N109N,ABCG2 | 1 |
chr4:89052998 | p.G618S | 1 |
chr4:89020488 | p.V404I,ABCG2 | 1 |
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* 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. |
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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 ABCG2 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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 |
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ABCB1,ABCG2,APOD,ART1,CASP14,CCDC152,CHRNA10, EGLN3,ENTHD1,FUT11,GSTM1,HERC4,KCNK12,LOC731779, MCHR1,MYPN,PCDH7,SEPP1,SLC10A1,SLC1A7,ZNF175 | ABCG2,ANKRD13A,ANXA8,ARHGEF9,ATP6V1B1,C22orf42,CCL28, ETV6,FAM81A,FOXI1,IQCF5,ITPRIPL1,KIAA1671,KIT, LOXL4,NAV2,PLA2R1,RSPO1,SH3RF2,SLC6A14,TRIM60 | ||||
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ABCG2,ALPI,C11orf86,LINC00520,C1orf94,CAPN11,CDHR2, CIDEC,CLDN23,DHRS9,FAM25BP,GDPD2,GLRA4,GUCA2B, MYPN,TM6SF2,TRANK1,UGT1A1,UGT1A4,UGT1A5,VSIG1 | ABCG2,ARL4A,SH3D21,CDC14A,FLVCR2,GCOM1,GLS, MAP3K2,MIA2,MT1DP,PDXP,PRKG2,RHOU,SLC1A1, SLC26A1,SLC3A1,SULT1A2,SLC35G1,TRPV3,UGT1A1,UGT1A9 |
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* 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 |
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Pharmacological Information for ABCG2 |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | Q9UNQ0; -. |
Chemistry | ChEMBL | CHEMBL5393; -. |
Chemistry | BindingDB | Q9UNQ0; -. |
Chemistry | ChEMBL | CHEMBL5393; -. |
Organism-specific databases | PharmGKB | PA390; -. |
Organism-specific databases | PharmGKB | PA390; -. |
Organism-specific databases | CTD | 9429; -. |
Organism-specific databases | CTD | 9429; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00709 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Lamivudine | ![]() | ![]() |
DB00390 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Digoxin | ![]() | ![]() |
DB00997 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Doxorubicin | ![]() | ![]() |
DB00987 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Cytarabine | ![]() | ![]() |
DB00694 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Daunorubicin | ![]() | ![]() |
DB00773 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Etoposide | ![]() | ![]() |
DB01204 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Mitoxantrone | ![]() | ![]() |
DB00541 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Vincristine | ![]() | ![]() |
DB00313 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Valproic Acid | ![]() | ![]() |
DB00544 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Fluorouracil | ![]() | ![]() |
DB00495 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Zidovudine | ![]() | ![]() |
DB01095 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Fluvastatin | ![]() | ![]() |
DB00641 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Simvastatin | ![]() | ![]() |
DB00958 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Carboplatin | ![]() | ![]() |
DB01076 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Atorvastatin | ![]() | ![]() |
DB01098 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Rosuvastatin | ![]() | ![]() |
DB00441 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Gemcitabine | ![]() | ![]() |
DB00563 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Methotrexate | ![]() | ![]() |
DB01196 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Estramustine | ![]() | ![]() |
DB00361 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Vinorelbine | ![]() | ![]() |
DB00619 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Imatinib | ![]() | ![]() |
DB00158 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; nutraceutical | Folic Acid | ![]() | ![]() |
DB00650 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Leucovorin | ![]() | ![]() |
DB00317 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Gefitinib | ![]() | ![]() |
DB00530 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Erlotinib | ![]() | ![]() |
DB00795 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Sulfasalazine | ![]() | ![]() |
DB00515 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Cisplatin | ![]() | ![]() |
DB01030 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Topotecan | ![]() | ![]() |
DB00175 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Pravastatin | ![]() | ![]() |
DB00531 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Cyclophosphamide | ![]() | ![]() |
DB01229 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Paclitaxel | ![]() | ![]() |
DB00877 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Sirolimus | ![]() | ![]() |
DB00864 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Tacrolimus | ![]() | ![]() |
DB00564 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Carbamazepine | ![]() | ![]() |
DB00762 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Irinotecan | ![]() | ![]() |
DB01248 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved; investigational | Docetaxel | ![]() | ![]() |
DB01016 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Glyburide | ![]() | ![]() |
DB00331 | ATP-binding cassette, sub-family G (WHITE), member 2 | approved | Metformin | ![]() | ![]() |
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Cross referenced IDs for ABCG2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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