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Fusion gene ID: 2285 |
FusionGeneSummary for AQP2_FOXP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AQP2_FOXP1 | Fusion gene ID: 2285 | Hgene | Tgene | Gene symbol | AQP2 | FOXP1 | Gene ID | 359 | 27086 |
| Gene name | aquaporin 2 | forkhead box P1 | |
| Synonyms | AQP-CD|WCH-CD | 12CC4|HSPC215|MFH|QRF1|hFKH1B | |
| Cytomap | 12q13.12 | 3p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aquaporin-2ADH water channelAQP-2aquaporin 2 (collecting duct)aquaporin-CDcollecting duct water channel proteinwater channel protein for renal collecting ductwater-channel aquaporin 2 | forkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkhead | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P41181 | Q9H334 | |
| Ensembl transtripts involved in fusion gene | ENST00000199280, | ENST00000318789, ENST00000475937, ENST00000493089, ENST00000484350, ENST00000318779, ENST00000491238, ENST00000498215, ENST00000468577, ENST00000472382, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 37 X 16 X 17=10064 |
| # samples | 1 | 40 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(40/10064*10)=-4.65306001710456 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AQP2 [Title/Abstract] AND FOXP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | AQP2 | GO:0006833 | water transport | 8584435|9321919 |
| Hgene | AQP2 | GO:0015793 | glycerol transport | 8584435 |
| Hgene | AQP2 | GO:0071280 | cellular response to copper ion | 8584435 |
| Hgene | AQP2 | GO:0071288 | cellular response to mercury ion | 8584435 |
| Tgene | FOXP1 | GO:0002903 | negative regulation of B cell apoptotic process | 25267198 |
| Tgene | FOXP1 | GO:0030316 | osteoclast differentiation | 18799727 |
| Tgene | FOXP1 | GO:0032496 | response to lipopolysaccharide | 18799727 |
| Tgene | FOXP1 | GO:0032680 | regulation of tumor necrosis factor production | 18799727 |
| Tgene | FOXP1 | GO:0035926 | chemokine (C-C motif) ligand 2 secretion | 18799727 |
| Tgene | FOXP1 | GO:0036035 | osteoclast development | 18799727 |
| Tgene | FOXP1 | GO:0042116 | macrophage activation | 18799727 |
| Tgene | FOXP1 | GO:0042117 | monocyte activation | 18799727 |
| Tgene | FOXP1 | GO:0045655 | regulation of monocyte differentiation | 15286807 |
| Tgene | FOXP1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20950788 |
| Tgene | FOXP1 | GO:0050706 | regulation of interleukin-1 beta secretion | 18799727 |
| Tgene | FOXP1 | GO:0050727 | regulation of inflammatory response | 18799727 |
| Tgene | FOXP1 | GO:0060766 | negative regulation of androgen receptor signaling pathway | 18640093 |
| Tgene | FOXP1 | GO:1900424 | regulation of defense response to bacterium | 18799727 |
| Tgene | FOXP1 | GO:1901256 | regulation of macrophage colony-stimulating factor production | 18799727 |
| Tgene | FOXP1 | GO:2001182 | regulation of interleukin-12 secretion | 18799727 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | KIRC | TCGA-B0-5691-01A | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-3UTR | ENST00000199280 | ENST00000318789 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-3UTR | ENST00000199280 | ENST00000475937 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000493089 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000484350 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000318779 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000491238 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000498215 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000468577 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
| 5CDS-intron | ENST00000199280 | ENST00000472382 | AQP2 | chr12 | 50352664 | + | FOXP1 | chr3 | 71007472 | - |
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FusionProtFeatures for AQP2_FOXP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AQP2 | FOXP1 |
| Forms a water-specific channel that provides the plasmamembranes of renal collecting duct with high permeability towater, thereby permitting water to move in the direction of anosmotic gradient. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for AQP2_FOXP1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for AQP2_FOXP1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| AQP2 | FOXP1 | CTBP1, FOXP1, FOXP2, FOXP4, GATAD2B, MTA1, NCOR2, ELAVL1, MYC, IL3RA, CCDC183, UNK, RCC1, HOXD13, QSER1, SATB1, SATB2, CTBP2, MYH10, LIG3, C10orf2, CUX1, VRK3, XRCC1, CHD1L, RPA2, BLM, MRE11A, MYL12B, TBP, TP53, TTF2, ZBTB10, MYL9, RPA3, TFCP2, TOP2A, UBP1, FOXP3, AURKA, SNRNP70 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AQP2_FOXP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AQP2_FOXP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AQP2 | C1563706 | Nephrogenic Diabetes Insipidus, Type II | 14 | UNIPROT |
| Hgene | AQP2 | C0162283 | Nephrogenic Diabetes Insipidus | 4 | CTD_human;HPO;ORPHANET |
| Hgene | AQP2 | C0878544 | Cardiomyopathies | 1 | CTD_human |
| Tgene | FOXP1 | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
| Tgene | FOXP1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | FOXP1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | FOXP1 | C0042900 | Vitiligo | 1 | CTD_human |
| Tgene | FOXP1 | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| Tgene | FOXP1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Tgene | FOXP1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | FOXP1 | C4013764 | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES | 1 | CTD_human;ORPHANET;UNIPROT |
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