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Fusion gene ID: 2012 |
FusionGeneSummary for AOC1_COL4A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AOC1_COL4A2 | Fusion gene ID: 2012 | Hgene | Tgene | Gene symbol | AOC1 | COL4A2 | Gene ID | 26 | 1284 |
| Gene name | amine oxidase, copper containing 1 | collagen type IV alpha 2 chain | |
| Synonyms | ABP|ABP1|DAO|DAO1|KAO | ICH|POREN2 | |
| Cytomap | 7q36.1 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amiloride-sensitive amine oxidase [copper-containing]amiloride binding protein 1 (amine oxidase (copper-containing))amiloride-binding protein 1amiloride-sensitive amine oxidaseamine oxidase copper domain-containing protein 1diamine oxidasehistaminas | collagen alpha-2(IV) chaincanstatin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P19801 | P08572 | |
| Ensembl transtripts involved in fusion gene | ENST00000493429, ENST00000467291, ENST00000360937, ENST00000416793, ENST00000480582, | ENST00000360467, ENST00000462309, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 6 X 3=108 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/108*10)=-1.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AOC1 [Title/Abstract] AND COL4A2 [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 | AOC1 | GO:0035874 | cellular response to copper ion starvation | 9399025 |
| Hgene | AOC1 | GO:0042493 | response to drug | 8144586 |
| Hgene | AOC1 | GO:0046677 | response to antibiotic | 7626074|19764817 |
| Hgene | AOC1 | GO:0055114 | oxidation-reduction process | 8144586|16846222 |
| Hgene | AOC1 | GO:0071280 | cellular response to copper ion | 9399025 |
| Hgene | AOC1 | GO:0071420 | cellular response to histamine | 12072962 |
| Hgene | AOC1 | GO:0097185 | cellular response to azide | 16846222 |
| Tgene | COL4A2 | GO:0016525 | negative regulation of angiogenesis | 10625665 |
| 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 |
| ChiTaRS3.1 | BF991446 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| * 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 |
| Frame-shift | ENST00000493429 | ENST00000360467 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 5CDS-intron | ENST00000493429 | ENST00000462309 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| Frame-shift | ENST00000467291 | ENST00000360467 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 5CDS-intron | ENST00000467291 | ENST00000462309 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| Frame-shift | ENST00000360937 | ENST00000360467 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 5CDS-intron | ENST00000360937 | ENST00000462309 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| Frame-shift | ENST00000416793 | ENST00000360467 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 5CDS-intron | ENST00000416793 | ENST00000462309 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 3UTR-3CDS | ENST00000480582 | ENST00000360467 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
| 3UTR-intron | ENST00000480582 | ENST00000462309 | AOC1 | chr7 | 150558254 | + | COL4A2 | chr13 | 111077137 | - |
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FusionProtFeatures for AOC1_COL4A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AOC1 | COL4A2 |
| Catalyzes the degradation of compounds such asputrescine, histamine, spermine, and spermidine, substancesinvolved in allergic and immune responses, cell proliferation,tissue differentiation, tumor formation, and possibly apoptosis.Placental DAO is thought to play a role in the regulation of thefemale reproductive function. | Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. Canstatin, a cleavage product corresponding to thecollagen alpha 2(IV) NC1 domain, possesses both anti-angiogenicand anti-tumor cell activity. It inhibits proliferation andmigration of endothelial cells, reduces mitochondrial membranepotential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity.Ligand for alphavbeta3 and alphavbeta5 integrins. |
| 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 AOC1_COL4A2 |
| 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 AOC1_COL4A2 |
| 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 |
| - 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 AOC1_COL4A2 |
| 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 |
| Hgene | AOC1 | P19801 | DB00594 | Amiloride | Amiloride-sensitive amine oxidase [copper-containing] | small molecule | approved |
| Hgene | AOC1 | P19801 | DB01373 | Calcium | Amiloride-sensitive amine oxidase [copper-containing] | small molecule | approved|nutraceutical |
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RelatedDiseases for AOC1_COL4A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AOC1 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | AOC1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | COL4A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | COL4A2 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Tgene | COL4A2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | COL4A2 | C3280970 | PORENCEPHALY 2 | 1 | UNIPROT |
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