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| TissGeneSummary for AQP6 |
 Gene summary |
| Basic gene information | Gene symbol | AQP6 |
| Gene name | aquaporin 6, kidney specific | |
| Synonyms | AQP2L|KID | |
| Cytomap | UCSC genome browser: 12q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001652.3, NM_053286.1, | |
| Description | AQP-6aquaporin 2-like, kidney specificaquaporin-6aquaporin-6, kidney specifichKIDkidney-specific aquaporin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601383 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000086159 | ||
| HPRD : 03226 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AQP6 | |
| BioGPS: 363 | ||
| Pathway | NCI Pathway Interaction Database: AQP6 | |
| KEGG: AQP6 | ||
| REACTOME: AQP6 | ||
| Pathway Commons: AQP6 | ||
| Context | iHOP: AQP6 | |
| ligand binding site mutation search in PubMed: AQP6 | ||
| UCL Cancer Institute: AQP6 | ||
| 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) | Kidney | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
| Reference showing the relevant tissue of AQP6 | ||
| Description by TissGene annotations | Have significant anti-correlated miRNA | |
| * 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 AQP6 |
| 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 |
| KIRP | -1.372226851 | 5.624754399 | -6.99698125 | 1.41E-18 | 7.02E-17 |
| KICH | 2.362749149 | 6.915453149 | -4.552704 | 2.04E-05 | 6.08E-05 |
| KIRC | -2.312235185 | 5.680288426 | -7.992523611 | 3.89E-45 | 2.36E-43 |
| THCA | -1.574774309 | -2.906011597 | 1.331237288 | 2.65E-07 | 1.09E-06 |
| Top |
| TissGene-miRNA for AQP6 |
| 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 |
| UCS | hsa-miR-421 | MIMAT0003339 | 0.0083 | -0.35 | 56 |
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| TissGeneMut for AQP6 |
| TissGeneSNV for AQP6 |
| 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.G256E | SKCM | 2 |
| p.A67T | UCEC | 2 |
| p.R9C | COAD | 1 |
| p.S77G | SARC | 1 |
| p.S96C | HNSC | 1 |
| p.F39L | HNSC | 1 |
| p.S270F | SKCM | 1 |
| p.G208A | LUSC | 1 |
| p.A84V | SKCM | 1 |
| p.R127* | SKCM | 1 |
| p.G260E | SKCM | 1 |
| p.S171F | HNSC | 1 |
| p.A59V | STAD | 1 |
| p.G110E | THCA | 1 |
| p.S44L | HNSC | 1 |
| p.G251S | BLCA | 1 |
| p.G131E | SKCM | 1 |
| p.G7E | SKCM | 1 |
| p.F40L | LUAD | 1 |
| p.F39L | COAD | 1 |
| p.A116S | HNSC | 1 |
| p.P83T | OV | 1 |
| p.G114R | SKCM | 1 |
| p.E269K | SKCM | 1 |
| p.A81T | STAD | 1 |
| p.A26V | LIHC | 1 |
| p.F62L | BLCA | 1 |
| p.A224T | STAD | 1 |
| p.K75N | UCEC | 1 |
| p.W217R | LUAD | 1 |
| p.A88D | BLCA | 1 |
| p.S171Y | READ | 1 |
| p.V253I | STAD | 1 |
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| TissGeneCNV for AQP6 |
| 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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| Top |
| TissGeneFusions for AQP6 |
| 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 |
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| TissGeneNet for AQP6 |
| 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 AQP6 |
| 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 AQP6 |
| TissGeneDrug for AQP6 |
| 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 AQP6 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C3665333 | Keratitis-Ichthyosis-Deafness Syndrome | 2 | BeFree |
| umls:C0027859 | Acoustic Neuroma | 1 | BeFree |
| umls:C0028768 | Obsessive-Compulsive Disorder | 1 | BeFree |
| umls:C0029421 | Osteochondritis Dissecans | 1 | BeFree |
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