 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for AQP2 |
 Gene summary |
| Basic gene information | Gene symbol | AQP2 |
| Gene name | aquaporin 2 (collecting duct) | |
| Synonyms | AQP-CD|WCH-CD | |
| Cytomap | UCSC genome browser: 12q12-q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000486.5, | |
| Description | ADH water channelAQP-2aquaporin-2aquaporin-CDcollecting duct water channel proteinwater channel protein for renal collecting ductwater-channel aquaporin 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 107777 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167580 | ||
| HPRD : 00141 | ||
| Vega : OTTHUMG00000169709 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AQP2 | |
| BioGPS: 359 | ||
| Pathway | NCI Pathway Interaction Database: AQP2 | |
| KEGG: AQP2 | ||
| REACTOME: AQP2 | ||
| Pathway Commons: AQP2 | ||
| Context | iHOP: AQP2 | |
| ligand binding site mutation search in PubMed: AQP2 | ||
| UCL Cancer Institute: AQP2 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | KidneyProstate | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHPRAD | |
| Reference showing the relevant tissue of AQP2 | ||
| Description by TissGene annotations | Cancer gene Fused withTSGene | |
| * 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 | GO:0006833 | water transport | 8584435 | GO:0015793 | glycerol transport | 8584435 | GO:0071280 | cellular response to copper ion | 8584435 | GO:0071288 | cellular response to mercury ion | 8584435 | GO:0006833 | water transport | 8584435 | GO:0015793 | glycerol transport | 8584435 | GO:0071280 | cellular response to copper ion | 8584435 | GO:0071288 | cellular response to mercury ion | 8584435 |
| Top |
| TissGeneExp for AQP2 |
| 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 |
| PRAD | -1.392602241 | 2.326115067 | -3.718717308 | 1.14E-06 | 7.96E-06 |
| KIRC | 0.931398293 | 13.26288024 | -12.33148194 | 6.58E-50 | 5.67E-48 |
| KIRP | 0.924752807 | 13.29971843 | -12.37496562 | 2.37E-28 | 5.63E-26 |
| KICH | 0.561128682 | 13.35782868 | -12.7967 | 2.23E-24 | 4.47E-22 |
| LUSC | -1.79885571 | -0.478328259 | -1.320527451 | 1.13E-08 | 3.55E-08 |
| STAD | 1.270137182 | -1.100484693 | 2.370621875 | 0.000203 | 0.00140476 |
| BLCA | -2.249022686 | -0.845701634 | -1.403321053 | 4.50E-05 | 0.000590014 |
| Top |
| TissGene-miRNA for AQP2 |
| 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 |
| Top |
| TissGeneMut for AQP2 |
| TissGeneSNV for AQP2 |
| 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.N68T | LUAD | 2 |
| p.R5C | SKCM | 2 |
| p.W246* | SKCM | 2 |
| p.W246X | SKCM | 2 |
| p.N68T | KIRP | 2 |
| p.N68T | THCA | 2 |
| p.C75F | BLCA | 1 |
| p.Y89* | LUAD | 1 |
| p.V194I | UCEC | 1 |
| p.P242L | LGG | 1 |
| p.R152H | UCEC | 1 |
| p.P262L | COAD | 1 |
| p.A70V | UCEC | 1 |
| p.V81D | ACC | 1 |
| p.E232D | LUSC | 1 |
| p.A97S | SARC | 1 |
| p.G158S | SKCM | 1 |
| p.N68T | HNSC | 1 |
| p.G64R | BLCA | 1 |
| p.V81I | STAD | 1 |
| p.L143F | STAD | 1 |
| p.A117V | SKCM | 1 |
| p.D245N | BLCA | 1 |
| p.G114R | OV | 1 |
| p.A190T | SKCM | 1 |
| p.F166L | CESC | 1 |
| p.N68T | BRCA | 1 |
| p.G51C | COAD | 1 |
| p.R85X | SKCM | 1 |
| p.R85* | SKCM | 1 |
| p.G171D | ESCA | 1 |
| p.A87T | UCEC | 1 |
| p.S188F | CESC | 1 |
| p.G114R | STAD | 1 |
| p.T125M | CESC | 1 |
| p.G100R | GBM | 1 |
| p.V90M | PRAD | 1 |
| p.G60S | SKCM | 1 |
| p.F23L | LIHC | 1 |
| p.N184I | OV | 1 |
| p.E3* | OV | 1 |
| Top |
| TissGeneCNV for AQP2 |
| 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) |
 |
| Top |
| TissGeneFusions for AQP2 |
| 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 |
| TCGAfusionPortal | PRADA | KIRC | TCGA-B0-5691-01A | AQP2-FOXP1 | NA | Chr12:50352664 | Chr3:71007472 |
| Top |
| TissGeneNet for AQP2 |
| 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) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| AQP2, UBC (tumor) | AQP2, UBC (normal) |
 |  |
| Top |
| TissGeneProg for AQP2 |
| 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. |
 |
| Top |
| TissGeneClin for AQP2 |
| TissGeneDrug for AQP2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Top |
| TissGeneDisease for AQP2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0162283 | Nephrogenic Diabetes Insipidus | 58 | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,RGD |
| umls:C1563705 | Nephrogenic Diabetes Insipidus, Type I | 46 | BeFree |
| umls:C0677501 | Congenital Nephrogenic Diabetes Insipidus | 14 | BeFree |
| umls:C1563706 | Nephrogenic Diabetes Insipidus, Type II | 14 | MGD,UNIPROT |
| umls:C0032617 | Polyuria | 8 | BeFree |
| umls:C0687720 | Central Diabetes Insipidus | 8 | BeFree |
| umls:C0011848 | Diabetes Insipidus | 7 | BeFree,LHGDN |
| umls:C0011175 | Dehydration | 6 | BeFree |
| umls:C0085602 | Polydipsia | 4 | BeFree |
| umls:C0020538 | Hypertensive disease | 3 | LHGDN,RGD |
| umls:C0575090 | Equilibration disorder | 3 | BeFree |
| umls:C0240035 | Interstitial fibrosis | 2 | BeFree |
| umls:C0008495 | Chorioamnionitis | 1 | GAD |
| umls:C0011847 | Diabetes | 1 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | GAD |
| umls:C0011880 | Diabetic Ketoacidosis | 1 | LHGDN |
| umls:C0011881 | Diabetic Nephropathy | 1 | BeFree |
| umls:C0011991 | Diarrhea | 1 | BeFree |
| umls:C0014175 | Endometriosis | 1 | BeFree |
| umls:C0015944 | Fetal Membranes, Premature Rupture | 1 | GAD |
| umls:C0016059 | Fibrosis | 1 | LHGDN |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 1 | BeFree |
| umls:C0018801 | Heart failure | 1 | LHGDN |
| umls:C0022658 | Kidney Diseases | 1 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 1 | BeFree,GAD |
| umls:C0022876 | Premature Obstetric Labor | 1 | GAD |
| umls:C0023890 | Liver Cirrhosis | 1 | LHGDN |
| umls:C0025281 | Meniere Disease | 1 | GAD |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0032914 | Pre-Eclampsia | 1 | GAD |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0042487 | Venous Thrombosis | 1 | GAD,LHGDN |
| umls:C0151526 | Premature Birth | 1 | GAD |
| umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
| umls:C0878544 | Cardiomyopathies | 1 | CTD_human |
| umls:C2919032 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 1 | GAD |
| umls:C3714756 | Intellectual Disability | 1 | LHGDN |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |