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Fusion gene ID: 2012 |
FusionGeneSummary for AOC1_COL4A2 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AOC1_COL4A2 |
![]() (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 |
![]() (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 |