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Fusion gene ID: 1290 |
FusionGeneSummary for AK3_IL33 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AK3_IL33 | Fusion gene ID: 1290 | Hgene | Tgene | Gene symbol | AK3 | IL33 | Gene ID | 50808 | 90865 |
| Gene name | adenylate kinase 3 | interleukin 33 | |
| Synonyms | AK3L1|AK6|AKL3L|AKL3L1|FIX | C9orf26|DVS27|IL1F11|NF-HEV|NFEHEV | |
| Cytomap | 9p24.1 | 9p24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GTP:AMP phosphotransferase AK3, mitochondrialGTP:AMP phosphotransferase, mitochondrialadenylate kinase 3 alpha-like 1adenylate kinase 6, adenylate kinase 3 like 1 | interleukin-33DVS27-related proteininterleukin-1 family member 11nuclear factor for high endothelial venulesnuclear factor from high endothelial venules | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9UIJ7 | O95760 | |
| Ensembl transtripts involved in fusion gene | ENST00000381809, ENST00000359883, ENST00000447596, | ENST00000417746, ENST00000456383, ENST00000381434, ENST00000463336, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 2 X 1 X 2=4 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: AK3 [Title/Abstract] AND IL33 [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 | AK3 | GO:0046033 | AMP metabolic process | 11485571 |
| Hgene | AK3 | GO:0046039 | GTP metabolic process | 11485571 |
| Hgene | AK3 | GO:0046041 | ITP metabolic process | 11485571 |
| Hgene | AK3 | GO:0046051 | UTP metabolic process | 11485571 |
| Tgene | IL33 | GO:0043032 | positive regulation of macrophage activation | 19841166 |
| Tgene | IL33 | GO:0090197 | positive regulation of chemokine secretion | 19841166 |
| 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 | HNSC | TCGA-C9-A47Z-01A | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| * 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-5UTR | ENST00000381809 | ENST00000417746 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-5UTR | ENST00000381809 | ENST00000456383 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-5UTR | ENST00000381809 | ENST00000381434 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-intron | ENST00000381809 | ENST00000463336 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| intron-5UTR | ENST00000359883 | ENST00000417746 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| intron-5UTR | ENST00000359883 | ENST00000456383 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| intron-5UTR | ENST00000359883 | ENST00000381434 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| intron-intron | ENST00000359883 | ENST00000463336 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-5UTR | ENST00000447596 | ENST00000417746 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-5UTR | ENST00000447596 | ENST00000456383 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-5UTR | ENST00000447596 | ENST00000381434 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
| 5CDS-intron | ENST00000447596 | ENST00000463336 | AK3 | chr9 | 4740937 | - | IL33 | chr9 | 6241684 | + |
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FusionProtFeatures for AK3_IL33 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AK3 | IL33 |
| Involved in maintaining the homeostasis of cellularnucleotides by catalyzing the interconversion of nucleosidephosphates. Has GTP:AMP phosphotransferase and ITP:AMPphosphotransferase activities. {ECO:0000255|HAMAP-Rule:MF_03169,ECO:0000269|PubMed:11485571}. | Cytokine that binds to and signals through theIL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPKsignaling pathways in target cells (PubMed:16286016). Involved inthe maturation of Th2 cells inducing the secretion of T-helpertype 2-associated cytokines. Also involved in activation of mastcells, basophils, eosinophils and natural killer cells. Acts as achemoattractant for Th2 cells, and may function as an "alarmin",that amplifies immune responses during tissue injury(PubMed:17853410, PubMed:18836528). {ECO:0000269|PubMed:16286016,ECO:0000269|PubMed:17853410, ECO:0000269|PubMed:18836528}. In quiescent endothelia the uncleaved form isconstitutively and abundantly expressed, and acts as a chromatin-associated nuclear factor with transcriptional repressorproperties, it may sequester nuclear NF-kappaB/RELA, loweringexpression of its targets (PubMed:21734074). This form is rapidelylost upon angiogenic or proinflammatory activation(PubMed:18787100). {ECO:0000269|PubMed:18787100,ECO:0000269|PubMed:21734074}. |
| 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 AK3_IL33 |
| 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 AK3_IL33 |
| 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 |
| AK3 | ELAVL1, ACO2, DAPK3, APPBP2, ZDHHC17, IBA57, HNRNPUL2, RPS14 | IL33 | HIST2H2AA3, HIST2H2BE, CASP1, USP21, XPO1, USP17L2, IL1RL1 |
| - 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 AK3_IL33 |
| 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 AK3_IL33 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IL33 | C0004096 | Asthma | 4 | CTD_human |
| Tgene | IL33 | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
| Tgene | IL33 | C0020523 | Immediate hypersensitivity | 1 | CTD_human |
| Tgene | IL33 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | IL33 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | IL33 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
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