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| TissGeneSummary for ABCB11 |
 Gene summary |
| Basic gene information | Gene symbol | ABCB11 |
| Gene name | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | |
| Synonyms | ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP | |
| Cytomap | UCSC genome browser: 2q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003742.2, | |
| Description | ABC member 16, MDR/TAP subfamilyATP-binding cassette sub-family B member 11bile salt export pumpprogressive familial intrahepatic cholestasis 2sister p-glycoprotein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603201 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000073734 | ||
| HPRD : 04436 | ||
| Vega : OTTHUMG00000154039 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ABCB11 | |
| BioGPS: 8647 | ||
| Pathway | NCI Pathway Interaction Database: ABCB11 | |
| KEGG: ABCB11 | ||
| REACTOME: ABCB11 | ||
| Pathway Commons: ABCB11 | ||
| Context | iHOP: ABCB11 | |
| ligand binding site mutation search in PubMed: ABCB11 | ||
| UCL Cancer Institute: ABCB11 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of ABCB11 | ||
| Description by TissGene annotations | Cancer gene Significant down-regulated DEG TissgsKTS CNV gained TissGeneKTS | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for ABCB11 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| BRCA | -1.832825117 | -0.546201433 | -1.286623684 | 1.41E-11 | 5.90E-11 |
| LIHC | 5.014411515 | 7.665029515 | -2.650618 | 6.43E-06 | 2.84E-05 |
| COAD | -1.625680178 | 2.582200592 | -4.207880769 | 5.18E-13 | 1.49E-11 |
| Top |
| TissGene-miRNA for ABCB11 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for ABCB11 |
| TissGeneSNV for ABCB11 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.G1267S | SKCM | 2 |
| p.G877E | SKCM | 2 |
| p.G477E | SKCM | 2 |
| p.R948C | STAD | 2 |
| p.G924E | SKCM | 2 |
| p.E521* | UCS | 1 |
| p.A995V | OV | 1 |
| p.Q216* | THCA | 1 |
| p.R1057Q | SKCM | 1 |
| p.A376G | LUSC | 1 |
| p.E504K | BLCA | 1 |
| p.K1136N | SKCM | 1 |
| p.I91V | KIRC | 1 |
| p.G937R | LUAD | 1 |
| p.G660R | SKCM | 1 |
| p.Y93* | ESCA | 1 |
| p.G344S | UCEC | 1 |
| p.Q497* | SKCM | 1 |
| p.P1184S | SKCM | 1 |
| p.G870W | LUAD | 1 |
| p.E1252G | THCA | 1 |
| p.K38* | BRCA | 1 |
| p.R8X | SKCM | 1 |
| p.R1128C | UCEC | 1 |
| p.G352E | SKCM | 1 |
| p.S1247P | BLCA | 1 |
| p.G234R | SKCM | 1 |
| p.T227I | SKCM | 1 |
| p.S901N | SKCM | 1 |
| p.R1221K | LUAD | 1 |
| p.R1226C | LUAD | 1 |
| p.R1187K | SKCM | 1 |
| p.V888A | PAAD | 1 |
| p.Y93X | ESCA | 1 |
| p.Q563X | SKCM | 1 |
| p.H1013Y | SKCM | 1 |
| p.G448E | LUSC | 1 |
| p.S690C | COAD | 1 |
| p.Q563* | SKCM | 1 |
| p.R1226C | STAD | 1 |
| p.F324L | UCEC | 1 |
| p.A273S | COAD | 1 |
| p.A1248T | LUAD | 1 |
| p.R8* | SKCM | 1 |
| p.G1177R | SKCM | 1 |
| p.R1231Q | LUAD | 1 |
| p.H608Y | COAD | 1 |
| p.A819T | HNSC | 1 |
| p.G648C | LUAD | 1 |
| p.K1181* | SKCM | 1 |
| p.Q1291H | LGG | 1 |
| p.Q869X | SKCM | 1 |
| p.E968D | LUAD | 1 |
| p.G841V | THCA | 1 |
| p.G1098S | SKCM | 1 |
| p.E521X | UCS | 1 |
| p.R1153H | PRAD | 1 |
| p.G1216E | SKCM | 1 |
| p.R1231W | SKCM | 1 |
| p.G234E | SKCM | 1 |
| p.G1317A | LUAD | 1 |
| p.S194L | SKCM | 1 |
| p.G255E | SKCM | 1 |
| p.R948H | BLCA | 1 |
| p.M755V | ESCA | 1 |
| p.S1154P | THYM | 1 |
| p.Q76* | BRCA | 1 |
| p.S286L | LIHC | 1 |
| p.C107R | PAAD | 1 |
| p.R8Q | SKCM | 1 |
| p.E645K | SKCM | 1 |
| p.D624Y | BRCA | 1 |
| p.Q1053* | SKCM | 1 |
| p.R832S | ESCA | 1 |
| p.E667Q | CESC | 1 |
| p.S1015N | SKCM | 1 |
| p.G766E | SKCM | 1 |
| p.D88H | HNSC | 1 |
| p.S55L | SKCM | 1 |
| p.L7I | COAD | 1 |
| p.A995V | READ | 1 |
| p.E1252* | UCEC | 1 |
| p.R1265S | UCEC | 1 |
| p.T358I | SKCM | 1 |
| p.M890L | LUSC | 1 |
| p.M224I | ESCA | 1 |
| p.E734K | SKCM | 1 |
| p.G344S | BRCA | 1 |
| p.R832C | UCEC | 1 |
| p.D94H | LUAD | 1 |
| p.S143G | ACC | 1 |
| p.E1296K | SKCM | 1 |
| p.M542I | LUAD | 1 |
| p.D3G | LIHC | 1 |
| p.Q869* | SKCM | 1 |
| p.D849N | LUAD | 1 |
| p.R387C | LUAD | 1 |
| p.D92E | UCEC | 1 |
| p.D1131N | SKCM | 1 |
| p.E942K | SKCM | 1 |
| p.Q170R | STAD | 1 |
| p.G660E | SKCM | 1 |
| p.Q1194H | STAD | 1 |
| p.Q1281R | LUAD | 1 |
| p.D414N | SKCM | 1 |
| p.F774I | SKCM | 1 |
| p.A995V | THCA | 1 |
| p.K1181X | SKCM | 1 |
| p.D23Y | KIRC | 1 |
| p.T124A | STAD | 1 |
| p.G1298E | SKCM | 1 |
| p.A151P | ESCA | 1 |
| p.F324L | ESCA | 1 |
| p.E666K | SKCM | 1 |
| p.F83V | UCEC | 1 |
| p.S194X | COAD | 1 |
| p.E667Q | UCEC | 1 |
| p.S1093L | SKCM | 1 |
| p.T1279I | LUAD | 1 |
| p.A932V | STAD | 1 |
| p.V89G | SKCM | 1 |
| p.A1287D | LUSC | 1 |
| p.Q563R | LIHC | 1 |
| p.Q170E | LUAD | 1 |
| p.L780F | SKCM | 1 |
| p.R517H | SKCM | 1 |
| p.G323R | SKCM | 1 |
| p.A311T | STAD | 1 |
| p.S1122N | UCEC | 1 |
| p.E1127K | SKCM | 1 |
| p.F1052S | HNSC | 1 |
| p.R44T | ESCA | 1 |
| p.D624N | CESC | 1 |
| p.W898* | SKCM | 1 |
| p.G1135E | SKCM | 1 |
| p.T1269I | SKCM | 1 |
| p.A614V | UCEC | 1 |
| p.N122D | LUAD | 1 |
| p.A974S | LUAD | 1 |
| p.D92N | LUAD | 1 |
| p.D282G | HNSC | 1 |
| p.R415Q | SKCM | 1 |
| p.L780I | STAD | 1 |
| p.S701Y | UCS | 1 |
| p.P970S | BRCA | 1 |
| p.M1202I | SKCM | 1 |
| p.R698H | COAD | 1 |
| p.H428Y | SKCM | 1 |
| p.R958Q | GBM | 1 |
| p.A595S | BRCA | 1 |
| p.S287* | CESC | 1 |
| p.D94N | LUAD | 1 |
| p.D590N | SKCM | 1 |
| p.G104E | SKCM | 1 |
| p.R387C | SKCM | 1 |
| p.L800P | OV | 1 |
| p.G1292R | SKCM | 1 |
| p.S618F | STAD | 1 |
| p.D1262Y | STAD | 1 |
| p.R928G | HNSC | 1 |
| p.E956K | SKCM | 1 |
| p.G278V | PRAD | 1 |
| p.R851K | SKCM | 1 |
| p.R680K | UCEC | 1 |
| p.R1050H | COAD | 1 |
| p.E630D | LUAD | 1 |
| p.V732G | BRCA | 1 |
| p.D1079N | SKCM | 1 |
| p.E964D | LUAD | 1 |
| p.E737K | BLCA | 1 |
| p.P731T | LUSC | 1 |
| p.P1205S | SKCM | 1 |
| p.M1304I | SKCM | 1 |
| p.G253V | SKCM | 1 |
| p.A1283V | LAML | 1 |
| p.E942V | COAD | 1 |
| p.G924R | SKCM | 1 |
| p.G855R | SKCM | 1 |
| p.Y538C | COAD | 1 |
| p.R692K | HNSC | 1 |
| p.S226* | LUAD | 1 |
| p.K176T | UCEC | 1 |
| p.G65E | SKCM | 1 |
| p.Q216X | THCA | 1 |
| p.T1279A | THYM | 1 |
| p.P250R | GBM | 1 |
| p.Q563* | SARC | 1 |
| p.A679V | UCEC | 1 |
| p.D724Y | SARC | 1 |
| p.R575Q | UCEC | 1 |
| p.N1211K | LUSC | 1 |
| p.R948C | PRAD | 1 |
| p.N1097Y | CESC | 1 |
| p.A1245V | THYM | 1 |
| p.F177V | UCEC | 1 |
| p.F48S | SARC | 1 |
| p.I512T | LIHC | 1 |
| p.G1116E | HNSC | 1 |
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| TissGeneCNV for ABCB11 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for ABCB11 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | AA984265 | SRP14-ABCB11 | chr15:40331369 | chr2:169869119 |
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| TissGeneNet for ABCB11 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| ABCB11, NR4A1, HAX1, LY6D (tumor) | ABCB11, NR4A1, HAX1, LY6D (normal) |
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| TissGeneProg for ABCB11 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for ABCB11 |
| TissGeneDrug for ABCB11 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB01016 | Glyburide | Inhibitor | Small molecule | Approved |
| DB00845 | Clofazimine | Small molecule | Approved|Investigational |
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| TissGeneDisease for ABCB11 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0268312 | Progressive intrahepatic cholestasis (disorder) | 51 | BeFree,CTD_human |
| umls:C0008370 | Cholestasis | 37 | BeFree,CTD_human,GAD,RGD |
| umls:C0268318 | Cholestasis of pregnancy | 22 | BeFree,ORPHANET |
| umls:C0008372 | Intrahepatic Cholestasis | 15 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0149841 | Benign recurrent intrahepatic cholestasis | 10 | BeFree |
| umls:C0023895 | Liver diseases | 7 | BeFree |
| umls:C3489789 | Cholestasis, Progressive Familial Intrahepatic, 2 | 7 | BeFree,CTD_human,UNIPROT |
| umls:C0023890 | Liver Cirrhosis | 6 | BeFree,GAD |
| umls:C2239176 | Liver carcinoma | 6 | BeFree |
| umls:C0008312 | Primary biliary cirrhosis | 5 | BeFree |
| umls:C0008350 | Cholelithiasis | 5 | BeFree,GAD |
| umls:C0033774 | Pruritus | 5 | BeFree,CTD_human |
| umls:C0860204 | Cholestatic liver disease | 5 | BeFree |
| umls:C1623038 | Cirrhosis | 5 | BeFree |
| umls:C0947622 | Cholecystolithiasis | 4 | BeFree,GAD |
| umls:C0019196 | Hepatitis C | 3 | BeFree |
| umls:C0524910 | Hepatitis C, Chronic | 3 | BeFree,GAD |
| umls:C0023903 | Liver neoplasms | 2 | BeFree |
| umls:C0032962 | Pregnancy Complications | 2 | GAD |
| umls:C0206698 | Cholangiocarcinoma | 2 | BeFree |
| umls:C0745744 | End Stage Liver Disease | 2 | BeFree |
| umls:C0856727 | Cholesterol gallstones | 2 | BeFree |
| umls:C2608083 | Cholestasis, benign recurrent intrahepatic 2 | 2 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C2609268 | Low phospholipid-associated cholelithiasis | 2 | BeFree |
| umls:C0001733 | Afibrinogenemia | 1 | CTD_human |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0008311 | Cholangitis | 1 | BeFree |
| umls:C0008313 | Cholangitis, Sclerosing | 1 | BeFree,GAD |
| umls:C0008352 | Cholemia | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| umls:C0010068 | Coronary heart disease | 1 | GAD |
| umls:C0010823 | Cytomegalovirus Infections | 1 | BeFree |
| umls:C0011053 | Deafness | 1 | GAD |
| umls:C0015695 | Fatty Liver | 1 | GAD |
| umls:C0018772 | Hearing Loss, Partial | 1 | GAD |
| umls:C0020459 | Hyperinsulinism | 1 | BeFree |
| umls:C0021368 | Inflammation | 1 | GAD |
| umls:C0021655 | Insulin Resistance | 1 | GAD |
| umls:C0021831 | Intestinal Diseases | 1 | BeFree,LHGDN |
| umls:C0023896 | Alcoholic Liver Diseases | 1 | BeFree |
| umls:C0023904 | Liver Neoplasms, Experimental | 1 | RGD |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042842 | Vitamin A Deficiency | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
| umls:C0268542 | Ornithine carbamoyltransferase deficiency | 1 | BeFree |
| umls:C0376618 | Endotoxemia | 1 | RGD |
| umls:C0400930 | Chronic hepatic failure | 1 | BeFree |
| umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | BeFree |
| umls:C0424605 | Developmental delay (disorder) | 1 | BeFree |
| umls:C0524620 | Metabolic Syndrome X | 1 | GAD,GWASCAT |
| umls:C0566602 | Primary sclerosing cholangitis | 1 | BeFree |
| umls:C0596263 | Carcinogenesis | 1 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0919267 | ovarian neoplasm | 1 | LHGDN |
| umls:C1384666 | hearing impairment | 1 | GAD |
| umls:C1561546 | Alkaline Phosphatase Adverse Event | 1 | GAD |
| umls:C3887873 | Hearing Loss | 1 | GAD |
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