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Fusion gene ID: 857 |
FusionGeneSummary for ADCYAP1R1_AQP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADCYAP1R1_AQP1 | Fusion gene ID: 857 | Hgene | Tgene | Gene symbol | ADCYAP1R1 | AQP1 | Gene ID | 117 | 358 |
| Gene name | ADCYAP receptor type I | aquaporin 1 (Colton blood group) | |
| Synonyms | PAC1|PAC1R|PACAPR|PACAPRI | AQP-CHIP|CHIP28|CO | |
| Cytomap | 7p14.3 | 7p14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pituitary adenylate cyclase-activating polypeptide type I receptorPACAP receptor 1PACAP type I receptorPACAP-R1adenylate cyclase activating polypeptide 1 (pituitary) receptor type Ipituitary adenylate cyclase activating polypeptide 1 receptor type I | aquaporin-1aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)aquaporin 1, Colton blood group antigenaquaporin-CHIPchannel-like integral membrane protein, 28-kDaurine water channelwater channel protein for red blood cells and kidne | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P41586 | P29972 | |
| Ensembl transtripts involved in fusion gene | ENST00000304166, ENST00000409363, ENST00000396211, ENST00000409489, | ENST00000434909, ENST00000509504, ENST00000311813, ENST00000482461, ENST00000441328, ENST00000409899, ENST00000409611, | |
| Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 3 X 2 X 3=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ADCYAP1R1 [Title/Abstract] AND AQP1 [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 |
| Tgene | AQP1 | GO:0003097 | renal water transport | 9096382 |
| Tgene | AQP1 | GO:0006182 | cGMP biosynthetic process | 14561230 |
| Tgene | AQP1 | GO:0006833 | water transport | 7521540|8576117|8584435|9321919|11914159|12172703|12766090|14561230 |
| Tgene | AQP1 | GO:0015670 | carbon dioxide transport | 12745312|16574458|19273840 |
| Tgene | AQP1 | GO:0015696 | ammonium transport | 16574458|19273840 |
| Tgene | AQP1 | GO:0015793 | glycerol transport | 7491270|8584435 |
| Tgene | AQP1 | GO:0019725 | cellular homeostasis | 19268465 |
| Tgene | AQP1 | GO:0030185 | nitric oxide transport | 16682607 |
| Tgene | AQP1 | GO:0034644 | cellular response to UV | 19424603 |
| Tgene | AQP1 | GO:0035377 | transepithelial water transport | 12766090 |
| Tgene | AQP1 | GO:0035378 | carbon dioxide transmembrane transport | 17012249 |
| Tgene | AQP1 | GO:0042493 | response to drug | 12172703 |
| Tgene | AQP1 | GO:0043066 | negative regulation of apoptotic process | 16565507 |
| Tgene | AQP1 | GO:0048146 | positive regulation of fibroblast proliferation | 16565507 |
| Tgene | AQP1 | GO:0070301 | cellular response to hydrogen peroxide | 19424603 |
| Tgene | AQP1 | GO:0071241 | cellular response to inorganic substance | 14561230 |
| Tgene | AQP1 | GO:0071260 | cellular response to mechanical stimulus | 19268465 |
| Tgene | AQP1 | GO:0071280 | cellular response to copper ion | 7491270|8584435 |
| Tgene | AQP1 | GO:0071288 | cellular response to mercury ion | 7491270|8584435|9321919|12172703|12745312 |
| Tgene | AQP1 | GO:0071300 | cellular response to retinoic acid | 12051745|19424603 |
| Tgene | AQP1 | GO:0071320 | cellular response to cAMP | 18538351 |
| Tgene | AQP1 | GO:0071456 | cellular response to hypoxia | 18275976 |
| Tgene | AQP1 | GO:0071472 | cellular response to salt stress | 18509662 |
| Tgene | AQP1 | GO:0071549 | cellular response to dexamethasone stimulus | 16711029 |
| Tgene | AQP1 | GO:0071732 | cellular response to nitric oxide | 14561230 |
| 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 | LGG | TCGA-TM-A84B-01A | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| * 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 |
| 5UTR-3CDS | ENST00000304166 | ENST00000434909 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3CDS | ENST00000304166 | ENST00000509504 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3CDS | ENST00000304166 | ENST00000311813 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000304166 | ENST00000482461 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000304166 | ENST00000441328 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000304166 | ENST00000409899 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000304166 | ENST00000409611 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3CDS | ENST00000409363 | ENST00000434909 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3CDS | ENST00000409363 | ENST00000509504 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3CDS | ENST00000409363 | ENST00000311813 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000409363 | ENST00000482461 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000409363 | ENST00000441328 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000409363 | ENST00000409899 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| 5UTR-3UTR | ENST00000409363 | ENST00000409611 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000396211 | ENST00000434909 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000396211 | ENST00000509504 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000396211 | ENST00000311813 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000396211 | ENST00000482461 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000396211 | ENST00000441328 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000396211 | ENST00000409899 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000396211 | ENST00000409611 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000409489 | ENST00000434909 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000409489 | ENST00000509504 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3CDS | ENST00000409489 | ENST00000311813 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000409489 | ENST00000482461 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000409489 | ENST00000441328 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000409489 | ENST00000409899 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
| intron-3UTR | ENST00000409489 | ENST00000409611 | ADCYAP1R1 | chr7 | 31092293 | + | AQP1 | chr7 | 30961681 | + |
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FusionProtFeatures for ADCYAP1R1_AQP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADCYAP1R1 | AQP1 |
| This is a receptor for PACAP-27 and PACAP-38. Theactivity of this receptor is mediated by G proteins which activateadenylyl cyclase. May regulate the release of adrenocorticotropin,luteinizing hormone, growth hormone, prolactin, epinephrine, andcatecholamine. May play a role in spermatogenesis and spermmotility. Causes smooth muscle relaxation and secretion in thegastrointestinal tract. | Forms a water-specific channel that provides the plasmamembranes of red cells and kidney proximal tubules with highpermeability to water, thereby permitting water to move in thedirection of an osmotic gradient. {ECO:0000269|PubMed:1373524}. |
| 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 ADCYAP1R1_AQP1 |
| 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 ADCYAP1R1_AQP1 |
| 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 |
| ADCYAP1R1 | CLU | AQP1 | MDFI, EFEMP2, KCTD17, KRTAP4-12, TRIP6, CCDC85B, ADAMTSL4, AQP1, TRIM23, FOS, KRT31, KRT33B, SIAH1, TCF4, TRAF1, TRAF2, RGS20, TNK2, SPRY2, MID2, IKZF3, IKZF2, MTUS2, RGS17, KCTD9, CRTAC1, CSRNP1, CCDC136, CEP44, KRTAP9-2, KRTAP4-2, RIMBP3, FSD2, KRT40, KIAA1958, CCDC57, NBPF22P, CCDC36, KRTAP10-7, KRTAP10-3, NOTCH2NL, CREB3, LMNA |
| - 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 ADCYAP1R1_AQP1 |
| 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 |
| Tgene | AQP1 | P29972 | DB09338 | Mersalyl | Aquaporin-1 | small molecule | approved |
| Tgene | AQP1 | P29972 | DB00819 | Acetazolamide | Aquaporin-1 | small molecule | approved|vet_approved |
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RelatedDiseases for ADCYAP1R1_AQP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADCYAP1R1 | C0004096 | Asthma | 1 | CTD_human |
| Hgene | ADCYAP1R1 | C0011570 | Mental Depression | 1 | PSYGENET |
| Hgene | ADCYAP1R1 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Hgene | ADCYAP1R1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | AQP1 | C0008340 | Choledochal Cyst | 1 | CTD_human |
| Tgene | AQP1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | AQP1 | C0013608 | Edema, Cardiac | 1 | CTD_human |
| Tgene | AQP1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | AQP1 | C0020550 | Hyperthyroidism | 1 | CTD_human |
| Tgene | AQP1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | AQP1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | AQP1 | C0030193 | Pain | 1 | CTD_human |
| Tgene | AQP1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | AQP1 | C0036983 | Septic Shock | 1 | CTD_human |
| Tgene | AQP1 | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | CTD_human |
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