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Fusion gene ID: 1649 |
FusionGeneSummary for ANAPC2_EYS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANAPC2_EYS | Fusion gene ID: 1649 | Hgene | Tgene | Gene symbol | ANAPC2 | EYS | Gene ID | 29882 | 346007 |
| Gene name | anaphase promoting complex subunit 2 | eyes shut homolog (Drosophila) | |
| Synonyms | APC2 | C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 | |
| Cytomap | 9q34.3 | 6q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anaphase-promoting complex subunit 2cyclosome subunit 2 | protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UJX6 | Q5T1H1 | |
| Ensembl transtripts involved in fusion gene | ENST00000487917, ENST00000323927, | ENST00000503581, ENST00000370621, ENST00000370616, ENST00000393380, ENST00000342421, ENST00000370618, ENST00000486069, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 26 X 15 X 12=4680 |
| # samples | 3 | 27 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(27/4680*10)=-4.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANAPC2 [Title/Abstract] AND EYS [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 | ANAPC2 | GO:0070979 | protein K11-linked ubiquitination | 18485873 |
| 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 | BLCA | TCGA-GV-A40G-01A | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| * 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 |
| intron-3CDS | ENST00000487917 | ENST00000503581 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-3CDS | ENST00000487917 | ENST00000370621 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-3CDS | ENST00000487917 | ENST00000370616 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-intron | ENST00000487917 | ENST00000393380 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-intron | ENST00000487917 | ENST00000342421 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-intron | ENST00000487917 | ENST00000370618 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| intron-intron | ENST00000487917 | ENST00000486069 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| Frame-shift | ENST00000323927 | ENST00000503581 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| Frame-shift | ENST00000323927 | ENST00000370621 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| Frame-shift | ENST00000323927 | ENST00000370616 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| 5CDS-intron | ENST00000323927 | ENST00000393380 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| 5CDS-intron | ENST00000323927 | ENST00000342421 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| 5CDS-intron | ENST00000323927 | ENST00000370618 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
| 5CDS-intron | ENST00000323927 | ENST00000486069 | ANAPC2 | chr9 | 140081933 | - | EYS | chr6 | 65767620 | - |
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FusionProtFeatures for ANAPC2_EYS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANAPC2 | EYS |
| Together with the RING-H2 protein ANAPC11, constitutesthe catalytic component of the anaphase promotingcomplex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitinligase that controls progression through mitosis and the G1 phaseof the cell cycle. The APC/C complex acts by mediatingubiquitination and subsequent degradation of target proteins: itmainly mediates the formation of 'Lys-11'-linked polyubiquitinchains and, to a lower extent, the formation of 'Lys-48'- and'Lys-63'-linked polyubiquitin chains. The CDC20-APC/C complexpositively regulates the formation of synaptic vesicle clusteringat active zone to the presynaptic membrane in postmitotic neurons.CDC20-APC/C-induced degradation of NEUROD2 drives presynapticdifferentiation. {ECO:0000269|PubMed:11739784,ECO:0000269|PubMed:18485873}. |
| 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 ANAPC2_EYS |
| 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 ANAPC2_EYS |
| 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 |
| ANAPC2 | ANAPC11, UBE2C, ANAPC1, EP300, CREBBP, FZR1, CDC20, CDC27, IST1, UFD1L, EPHA4, GRIA1, SMARCAD1, RB1, NINL, FBXO2, RNF34, COPS5, MAD2L1, FBXO5, ANAPC5, CDC23, CDC16, ANAPC4, ANAPC7, ANAPC10, MDC1, TP53BP1, ANAPC15, HSP90AA1, SMAD2, SOX2, UBE2S, PHF8, MDM2, CDC26, PTTG1, UBE2D2, BUB1B, GRAP2, MAGIX, TTLL1, PRKDC, CDC5L, C16orf87, ANAPC13, ZNF408 | EYS | EGFR |
| - 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 ANAPC2_EYS |
| 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 ANAPC2_EYS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EYS | C1864446 | Retinitis Pigmentosa 25 | 2 | CTD_human;UNIPROT |
| Tgene | EYS | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;ORPHANET |
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