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Fusion gene ID: 11804 |
FusionGeneSummary for EPHA3_ABCA9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPHA3_ABCA9 | Fusion gene ID: 11804 | Hgene | Tgene | Gene symbol | EPHA3 | ABCA9 | Gene ID | 2042 | 10350 |
| Gene name | EPH receptor A3 | ATP binding cassette subfamily A member 9 | |
| Synonyms | EK4|ETK|ETK1|HEK|HEK4|TYRO4 | EST640918 | |
| Cytomap | 3p11.1 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ephrin type-A receptor 3EPH-like kinase 4TYRO4 protein tyrosine kinaseeph-like tyrosine kinase 1human embryo kinase 1testicular tissue protein Li 64tyrosine-protein kinase receptor ETK1 | ATP-binding cassette sub-family A member 9ATP-binding cassette A9ATP-binding cassette, sub-family A (ABC1), member 9 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P29320 | Q8IUA7 | |
| Ensembl transtripts involved in fusion gene | ENST00000336596, ENST00000452448, ENST00000494014, | ENST00000340001, ENST00000453985, ENST00000370732, ENST00000482072, ENST00000495634, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 5 X 4=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPHA3 [Title/Abstract] AND ABCA9 [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 | EPHA3 | GO:0018108 | peptidyl-tyrosine phosphorylation | 11877430 |
| Hgene | EPHA3 | GO:0032956 | regulation of actin cytoskeleton organization | 11870224 |
| Hgene | EPHA3 | GO:0043087 | regulation of GTPase activity | 11870224 |
| Hgene | EPHA3 | GO:0045806 | negative regulation of endocytosis | 11877430 |
| Hgene | EPHA3 | GO:0048013 | ephrin receptor signaling pathway | 11870224 |
| Hgene | EPHA3 | GO:0051893 | regulation of focal adhesion assembly | 11870224 |
| Hgene | EPHA3 | GO:0070507 | regulation of microtubule cytoskeleton organization | 11870224 |
| Hgene | EPHA3 | GO:1903078 | positive regulation of protein localization to plasma membrane | 11877430 |
| 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 | THYM | TCGA-ZB-A96L-01A | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| * 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 | ENST00000336596 | ENST00000340001 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000336596 | ENST00000453985 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000336596 | ENST00000370732 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-intron | ENST00000336596 | ENST00000482072 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000336596 | ENST00000495634 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| intron-5UTR | ENST00000452448 | ENST00000340001 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| intron-5UTR | ENST00000452448 | ENST00000453985 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| intron-5UTR | ENST00000452448 | ENST00000370732 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| intron-intron | ENST00000452448 | ENST00000482072 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| intron-5UTR | ENST00000452448 | ENST00000495634 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000494014 | ENST00000340001 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000494014 | ENST00000453985 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000494014 | ENST00000370732 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-intron | ENST00000494014 | ENST00000482072 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
| 5CDS-5UTR | ENST00000494014 | ENST00000495634 | EPHA3 | chr3 | 89480509 | + | ABCA9 | chr17 | 67047280 | - |
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FusionProtFeatures for EPHA3_ABCA9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPHA3 | ABCA9 |
| Receptor tyrosine kinase which binds promiscuouslymembrane-bound ephrin family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling. Highly promiscuous for ephrin-A ligands it bindspreferentially EFNA5. Upon activation by EFNA5 regulates cell-celladhesion, cytoskeletal organization and cell migration. Plays arole in cardiac cells migration and differentiation and regulatesthe formation of the atrioventricular canal and septum duringdevelopment probably through activation by EFNA1. Involved in theretinotectal mapping of neurons. May also control the segregationbut not the guidance of motor and sensory axons duringneuromuscular circuit development. {ECO:0000269|PubMed:11870224}. | May play a role in monocyte differentiation and lipidhomeostasis. {ECO:0000269|PubMed:12150964}. |
| 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 EPHA3_ABCA9 |
| 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 EPHA3_ABCA9 |
| 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 |
| EPHA3 | TP53, CRK, EFNB2, EFNA5, EFNA1, EFNB1, EFNA3, EFNA4, SRC, FYN, ABL1, RBM18, SRPK1, CDKN2A, HLA-DRA, CEACAM21, TMEM231, EPHA7, LRRIQ1, FAM118B, SLAMF1, ILKAP, CTDSP2, DUSP18, DUSP21, STYX, TPTE, MTMR11 | ABCA9 | 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 EPHA3_ABCA9 |
| 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 EPHA3_ABCA9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ABCA9 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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