TissGeneSummary for ABCB4 |
Gene summary |
Basic gene information | 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 | |
Type of gene | protein-coding | |
RefGenes | NM_000443.3, NM_018849.2,NM_018850.2, | |
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 | ||
Pathway | NCI Pathway Interaction Database: ABCB4 | |
KEGG: ABCB4 | ||
REACTOME: ABCB4 | ||
Pathway Commons: ABCB4 | ||
Context | iHOP: ABCB4 | |
ligand binding site mutation search in PubMed: ABCB4 | ||
UCL Cancer Institute: ABCB4 | ||
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 ABCB4 | ||
Description by TissGene annotations | Fused withOncogene |
* 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 ABCB4 |
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) |
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) |
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. |
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) |
- 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 |
KIRC | 0.735725603 | -0.835749397 | 1.571475 | 2.03E-11 | 7.70E-11 |
KICH | -3.204955786 | -0.928439786 | -2.276516 | 1.27E-08 | 6.65E-08 |
LUAD | -1.118172338 | -2.751079234 | 1.632906897 | 6.39E-11 | 3.91E-10 |
LIHC | 5.425572214 | 6.760088214 | -1.334516 | 0.000612 | 0.001747111 |
KIRP | 0.815855464 | -0.502300786 | 1.31815625 | 0.000498 | 0.001463324 |
HNSC | -2.019733926 | -0.932206019 | -1.087527907 | 0.000329 | 0.001282929 |
BLCA | -1.851575786 | -0.14444947 | -1.707126316 | 2.35E-05 | 0.000370667 |
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TissGene-miRNA for ABCB4 |
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 ABCB4 |
TissGeneSNV for ABCB4 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G90E | SKCM | 3 |
p.E1150K | SKCM | 2 |
p.S615R | PRAD | 1 |
p.E888X | COAD | 1 |
p.W708* | UCEC | 1 |
p.V336F | STAD | 1 |
p.R144X | COAD | 1 |
p.L1212V | BLCA | 1 |
p.P105S | SKCM | 1 |
p.R549L | HNSC | 1 |
p.T815S | SKCM | 1 |
p.D682Y | LUSC | 1 |
p.S696F | SKCM | 1 |
p.X1287R | STAD | 1 |
p.G880E | BLCA | 1 |
p.I1133M | OV | 1 |
p.P551T | LUAD | 1 |
p.F210L | THYM | 1 |
p.R13C | STAD | 1 |
p.T524A | COAD | 1 |
p.R361T | BLCA | 1 |
p.S483P | UCEC | 1 |
p.P95S | READ | 1 |
p.A601T | STAD | 1 |
p.R144X | SKCM | 1 |
p.R212T | LUSC | 1 |
p.N91H | UCEC | 1 |
p.W1114X | STAD | 1 |
p.V465I | LUAD | 1 |
p.K7N | UCEC | 1 |
p.W854X | THYM | 1 |
p.E1106D | UCEC | 1 |
p.E470K | SKCM | 1 |
p.Y492C | SARC | 1 |
p.A6T | GBM | 1 |
p.S339X | COAD | 1 |
p.G762R | HNSC | 1 |
p.R913K | SKCM | 1 |
p.A542T | STAD | 1 |
p.T583N | SKCM | 1 |
p.Q678* | HNSC | 1 |
p.G622V | BLCA | 1 |
p.C353S | LUAD | 1 |
p.T560M | OV | 1 |
p.R595Q | PAAD | 1 |
p.L1016V | CESC | 1 |
p.V713M | MESO | 1 |
p.L817H | LIHC | 1 |
p.S136L | SKCM | 1 |
p.L856S | STAD | 1 |
p.K1258N | LUAD | 1 |
p.S951F | SKCM | 1 |
p.G495E | SKCM | 1 |
p.G1179E | SKCM | 1 |
p.E172K | SKCM | 1 |
p.V713M | LGG | 1 |
p.A254T | GBM | 1 |
p.L533Q | LUAD | 1 |
p.C1073R | LUAD | 1 |
p.S666T | HNSC | 1 |
p.M790T | STAD | 1 |
p.R144* | SKCM | 1 |
p.M516I | SKCM | 1 |
p.T593M | COAD | 1 |
p.R47X | STAD | 1 |
p.G1074E | SKCM | 1 |
p.Q823H | UCEC | 1 |
p.T61I | STAD | 1 |
p.R545H | KIRC | 1 |
p.R159* | LUAD | 1 |
p.V906I | LGG | 1 |
p.A1047V | SKCM | 1 |
p.E616K | READ | 1 |
p.D180V | OV | 1 |
p.R957X | SKCM | 1 |
p.E275* | UCEC | 1 |
p.I866M | ESCA | 1 |
p.L123F | LUSC | 1 |
p.S765F | LIHC | 1 |
p.D972Y | UCEC | 1 |
p.L644Q | STAD | 1 |
p.L55F | STAD | 1 |
p.R1194* | STAD | 1 |
p.I637L | UCEC | 1 |
p.G1255A | LUAD | 1 |
p.F85L | STAD | 1 |
p.F154V | UCEC | 1 |
p.G126E | SKCM | 1 |
p.G79E | ESCA | 1 |
p.G163V | ACC | 1 |
p.F463C | ESCA | 1 |
p.T1232N | LUAD | 1 |
p.A1090V | STAD | 1 |
p.E22Q | BLCA | 1 |
p.D449N | BLCA | 1 |
p.G714R | SKCM | 1 |
p.K1156N | UCEC | 1 |
p.G612R | GBM | 1 |
p.R957* | BLCA | 1 |
p.L701M | HNSC | 1 |
p.E1215K | CESC | 1 |
p.L627I | LUAD | 1 |
p.R549C | BLCA | 1 |
p.I377N | STAD | 1 |
p.R957Q | UCEC | 1 |
p.T828A | LGG | 1 |
p.K672N | COAD | 1 |
p.W1114* | STAD | 1 |
p.M968T | LUAD | 1 |
p.G1032R | SKCM | 1 |
p.R47* | STAD | 1 |
p.L218F | LUAD | 1 |
p.I108F | UCEC | 1 |
p.E616K | SKCM | 1 |
p.E901K | UCEC | 1 |
p.R785K | BLCA | 1 |
p.E901* | UCEC | 1 |
p.R1174* | UCEC | 1 |
p.E1215K | LUAD | 1 |
p.D564E | ACC | 1 |
p.K1060T | LUAD | 1 |
p.E1165K | UCS | 1 |
p.G966A | LUAD | 1 |
p.V712I | THYM | 1 |
p.T1092A | UCEC | 1 |
p.R1046Q | HNSC | 1 |
p.G24R | LGG | 1 |
p.R545H | UCEC | 1 |
p.K32E | STAD | 1 |
p.V347I | LIHC | 1 |
p.R147M | UCEC | 1 |
p.R797I | LUSC | 1 |
p.K793E | KIRP | 1 |
p.R788W | UCEC | 1 |
p.K1218E | OV | 1 |
p.C433Y | LUSC | 1 |
p.I839L | LUAD | 1 |
p.Q423R | LGG | 1 |
p.D576G | OV | 1 |
p.L1025P | STAD | 1 |
p.R13H | STAD | 1 |
p.L314M | STAD | 1 |
p.L1081R | STAD | 1 |
p.G1032E | SKCM | 1 |
p.V526G | BRCA | 1 |
p.R47Q | UCEC | 1 |
p.R1046Q | COAD | 1 |
p.S436G | STAD | 1 |
p.E513V | LUSC | 1 |
p.S300Y | UCEC | 1 |
p.G392E | SKCM | 1 |
p.G1054R | KIRP | 1 |
p.L73F | READ | 1 |
p.E4Q | CESC | 1 |
p.R47Q | ESCA | 1 |
p.E1058Q | SKCM | 1 |
p.A204T | HNSC | 1 |
p.R957* | SKCM | 1 |
p.E528K | HNSC | 1 |
p.G9R | LUSC | 1 |
p.A252T | UCEC | 1 |
p.E707X | READ | 1 |
p.A222V | PRAD | 1 |
p.Y365H | GBM | 1 |
p.E901K | UCS | 1 |
p.I763N | LUAD | 1 |
p.R1144W | BLCA | 1 |
p.E49* | UCEC | 1 |
p.A141T | CESC | 1 |
p.D744N | BRCA | 1 |
p.F754L | UCEC | 1 |
p.P95S | SKCM | 1 |
p.G163* | LUAD | 1 |
p.S1132N | UCEC | 1 |
p.K552N | STAD | 1 |
p.V985A | COAD | 1 |
p.D459Y | HNSC | 1 |
p.E470K | COAD | 1 |
p.T15M | LGG | 1 |
p.L518S | UCEC | 1 |
p.R957* | CESC | 1 |
p.D799G | PAAD | 1 |
p.M795I | GBM | 1 |
p.R406* | HNSC | 1 |
p.L771R | UCEC | 1 |
p.D50N | UCEC | 1 |
p.G714R | LUSC | 1 |
p.D449N | HNSC | 1 |
p.S69L | BLCA | 1 |
p.R47* | UCEC | 1 |
p.Q772* | SKCM | 1 |
p.N808Y | UCEC | 1 |
p.D564N | LGG | 1 |
p.Q749L | LIHC | 1 |
p.K244R | SKCM | 1 |
p.A833V | SARC | 1 |
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TissGeneCNV for ABCB4 |
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 ABCB4 |
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 | TopHat-Fusion | SARC | TCGA-FX-A3RE-01A | ABCB4-ABCB1 | In-Frame | chr7:87035693 | chr7:87138716 |
TCGAfusionPortal | PRADA | HNSC | TCGA-CR-6467-01A | ABCC4-ABCB4 | In-frame | Chr13:95829961 | Chr7:87038708 |
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TissGeneNet for ABCB4 |
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) |
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TissGeneProg for ABCB4 |
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. |
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. |
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. |
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 ABCB4 |
TissGeneDrug for ABCB4 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for ABCB4 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0268312 | Progressive intrahepatic cholestasis (disorder) | 30 | BeFree,CTD_human |
umls:C0268318 | Cholestasis of pregnancy | 25 | BeFree,CTD_human,ORPHANET |
umls:C0008370 | Cholestasis | 20 | BeFree,GAD,RGD |
umls:C2609268 | Low phospholipid-associated cholelithiasis | 15 | BeFree,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0008372 | Intrahepatic Cholestasis | 13 | BeFree,GAD,LHGDN |
umls:C0023895 | Liver diseases | 13 | BeFree,GAD,LHGDN |
umls:C0008350 | Cholelithiasis | 11 | BeFree,GAD,LHGDN |
umls:C1865643 | Cholestasis, progressive familial intrahepatic 3 | 9 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0008312 | Primary biliary cirrhosis | 8 | BeFree |
umls:C0023434 | Chronic Lymphocytic Leukemia | 7 | BeFree |
umls:C0023892 | Biliary cirrhosis | 7 | BeFree,CTD_human,GAD,LHGDN |
umls:C0856727 | Cholesterol gallstones | 7 | BeFree |
umls:C2239176 | Liver carcinoma | 7 | BeFree,CTD_human,MGD |
umls:C0023890 | Liver Cirrhosis | 6 | BeFree,CTD_human |
umls:C0947622 | Cholecystolithiasis | 5 | BeFree,GAD |
umls:C0008313 | Cholangitis, Sclerosing | 4 | BeFree,CTD_human,GAD |
umls:C0023418 | leukemia | 4 | BeFree |
umls:C1623038 | Cirrhosis | 4 | BeFree |
umls:C0032962 | Pregnancy Complications | 3 | GAD |
umls:C0033774 | Pruritus | 3 | BeFree,GAD |
umls:C0239946 | Fibrosis, Liver | 3 | BeFree |
umls:C0566602 | Primary sclerosing cholangitis | 3 | BeFree,MGD |
umls:C0860204 | Cholestatic liver disease | 3 | BeFree |
umls:C1512409 | Hepatocarcinogenesis | 3 | BeFree |
umls:C3554241 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 | 3 | CLINVAR,UNIPROT |
umls:C0019159 | Hepatitis A | 2 | BeFree |
umls:C0021368 | Inflammation | 2 | CTD_human,GAD |
umls:C0023486 | Prolymphocytic Leukemia | 2 | BeFree |
umls:C0023903 | Liver neoplasms | 2 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 2 | BeFree |
umls:C0031117 | Peripheral Neuropathy | 2 | BeFree,CTD_human |
umls:C0085605 | Liver Failure | 2 | BeFree |
umls:C0085669 | Acute leukemia | 2 | BeFree |
umls:C0242216 | Biliary calculi | 2 | LHGDN |
umls:C0745744 | End Stage Liver Disease | 2 | BeFree,CTD_human |
umls:C1140680 | Malignant neoplasm of ovary | 2 | BeFree |
umls:C1279296 | Chronic leukemia (category) | 2 | BeFree |
umls:C0005586 | Bipolar Disorder | 1 | BeFree |
umls:C0006118 | Brain Neoplasms | 1 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
umls:C0008311 | Cholangitis | 1 | CTD_human |
umls:C0008354 | Cholera | 1 | BeFree |
umls:C0008626 | Congenital chromosomal disease | 1 | BeFree |
umls:C0009404 | Colorectal Neoplasms | 1 | CTD_human |
umls:C0010068 | Coronary heart disease | 1 | GAD |
umls:C0010674 | Cystic Fibrosis | 1 | BeFree,GAD |
umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
umls:C0014556 | Epilepsy, Temporal Lobe | 1 | GAD |
umls:C0016059 | Fibrosis | 1 | GAD |
umls:C0021655 | Insulin Resistance | 1 | GAD |
umls:C0022354 | Jaundice, Obstructive | 1 | CTD_human |
umls:C0023449 | Acute lymphocytic leukemia | 1 | BeFree |
umls:C0026764 | Multiple Myeloma | 1 | BeFree |
umls:C0027819 | Neuroblastoma | 1 | BeFree |
umls:C0035412 | Rhabdomyosarcoma | 1 | BeFree |
umls:C0079588 | Ichthyosis, X-Linked | 1 | BeFree |
umls:C0149841 | Benign recurrent intrahepatic cholestasis | 1 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 1 | BeFree |
umls:C0242656 | Disease Progression | 1 | CTD_human |
umls:C0278996 | Cancer of Head and Neck | 1 | BeFree |
umls:C0280248 | stage, chronic lymphocytic leukemia | 1 | BeFree |
umls:C0341439 | Chronic liver disease | 1 | BeFree |
umls:C0400966 | Non-alcoholic Fatty Liver Disease | 1 | BeFree,CTD_human |
umls:C0524909 | Hepatitis B, Chronic | 1 | BeFree |
umls:C0524910 | Hepatitis C, Chronic | 1 | BeFree |
umls:C0678222 | Breast Carcinoma | 1 | BeFree |
umls:C0684249 | Carcinoma of lung | 1 | BeFree |
umls:C0700095 | Central neuroblastoma | 1 | BeFree |
umls:C0742395 | Cholestasis, chronic | 1 | BeFree |
umls:C0746102 | Chronic lung disease | 1 | BeFree |
umls:C0796149 | Scott Syndrome | 1 | BeFree |
umls:C1263666 | Advanced cirrhosis | 1 | BeFree |
umls:C1290807 | Diarrheal disorder | 1 | BeFree |
umls:C1621958 | Glioblastoma Multiforme | 1 | BeFree |
umls:C3489789 | Cholestasis, Progressive Familial Intrahepatic, 2 | 1 | BeFree |
umls:C3805083 | Portal fibrosis | 1 | BeFree |
umls:C0008325 | Cholecystitis | 0 | CLINVAR |