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Kinase Fusion Gene:EPHA7_DAB2IP |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: EPHA7_DAB2IP | KinaseFusionDB ID: KFG2015 | FusionGDB2.0 ID: KFG2015 | Hgene | Tgene | Gene symbol | EPHA7 | DAB2IP | Gene ID | 2045 | 153090 | |
| Gene name | EPH receptor A7 | DAB2 interacting protein | ||||||||||
| Synonyms | EHK-3|EHK3|EK11|HEK11 | AF9Q34|AIP-1|AIP1|DIP1/2 | ||||||||||
| Cytomap | 6q16.1 | 9q33.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | ephrin type-A receptor 7EPH homology kinase 3EPH-like kinase 11Eph homology kinase-3receptor protein-tyrosine kinase HEK11tyrosine-protein kinase receptor EHK-3 | disabled homolog 2-interacting proteinASK-interacting protein 1ASK1-interacting protein 1DAB2 interaction proteinDOC-2/DAB2 interactive proteinnGAP-like protein | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | Q15375 | Q5VWQ8 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000369297, ENST00000369303, | ENST00000259371, ENST00000408936, ENST00000309989, ENST00000487716, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: EPHA7 [Title/Abstract] AND DAB2IP [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | EPHA7(94128225)-DAB2IP(124547456), # samples:1 | |||||||||||
| 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 | EPHA7 | GO:0048013 | ephrin receptor signaling pathway | 17726105 |
| Hgene | EPHA7 | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation | 17726105 |
| Hgene | EPHA7 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 17726105 |
| Tgene | DAB2IP | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15310755 |
| Tgene | DAB2IP | GO:0008285 | negative regulation of cell population proliferation | 19903888 |
| Tgene | DAB2IP | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 20154697 |
| Tgene | DAB2IP | GO:0016525 | negative regulation of angiogenesis | 19033661 |
| Tgene | DAB2IP | GO:0030163 | protein catabolic process | 17389591 |
| Tgene | DAB2IP | GO:0031334 | positive regulation of protein-containing complex assembly | 18281285 |
| Tgene | DAB2IP | GO:0034144 | negative regulation of toll-like receptor 4 signaling pathway | 19948740 |
| Tgene | DAB2IP | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 19033661 |
| Tgene | DAB2IP | GO:0042177 | negative regulation of protein catabolic process | 19903888 |
| Tgene | DAB2IP | GO:0043065 | positive regulation of apoptotic process | 17389591|19903888 |
| Tgene | DAB2IP | GO:0043124 | negative regulation of canonical NF-kappaB signal transduction | 15310755|17389591 |
| Tgene | DAB2IP | GO:0043254 | regulation of protein-containing complex assembly | 19948740 |
| Tgene | DAB2IP | GO:0043407 | negative regulation of MAP kinase activity | 12813029 |
| Tgene | DAB2IP | GO:0043410 | positive regulation of MAPK cascade | 19903888 |
| Tgene | DAB2IP | GO:0043507 | positive regulation of JUN kinase activity | 12813029|15310755 |
| Tgene | DAB2IP | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15310755|17389591 |
| Tgene | DAB2IP | GO:0046330 | positive regulation of JNK cascade | 17389591|19903888 |
| Tgene | DAB2IP | GO:0051726 | regulation of cell cycle | 19903888 |
| Tgene | DAB2IP | GO:0051898 | negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 19903888 |
| Tgene | DAB2IP | GO:0070317 | negative regulation of G0 to G1 transition | 19903888 |
| Tgene | DAB2IP | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 19903888 |
| Tgene | DAB2IP | GO:0071222 | cellular response to lipopolysaccharide | 19948740 |
| Tgene | DAB2IP | GO:0071347 | cellular response to interleukin-1 | 19948740 |
| Tgene | DAB2IP | GO:0071356 | cellular response to tumor necrosis factor | 12813029|15310755|17389591 |
| Tgene | DAB2IP | GO:2001235 | positive regulation of apoptotic signaling pathway | 19903888 |
| Kinase Fusion gene breakpoints across EPHA7 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across DAB2IP (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | CB242031 | EPHA7 | chr6 | 94128225 | DAB2IP | chr9 | 124547456 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:94128225/:124547456) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPHA7 | DAB2IP |
| FUNCTION: Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signaling may result in activation of components of the ERK signaling pathway including MAP2K1, MAP2K2, MAPK1 and MAPK3 which are phosphorylated upon activation of EPHA7. {ECO:0000269|PubMed:17726105}. | FUNCTION: Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Also plays a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon (IFN) or lipopolysaccharide (LPS). Modulates the balance between phosphatidylinositol 3-kinase (PI3K)-AKT-mediated cell survival and apoptosis stimulated kinase (MAP3K5)-JNK signaling pathways; sequesters both AKT1 and MAP3K5 and counterbalances the activity of each kinase by modulating their phosphorylation status in response to pro-inflammatory stimuli. Acts as a regulator of the endoplasmic reticulum (ER) unfolded protein response (UPR) pathway; specifically involved in transduction of the ER stress-response to the JNK cascade through ERN1. Mediates TNF-alpha-induced apoptosis activation by facilitating dissociation of inhibitor 14-3-3 from MAP3K5; recruits the PP2A phosphatase complex which dephosphorylates MAP3K5 on 'Ser-966', leading to the dissociation of 13-3-3 proteins and activation of the MAP3K5-JNK signaling pathway in endothelial cells. Mediates also TNF/TRAF2-induced MAP3K5-JNK activation, while it inhibits CHUK-NF-kappa-B signaling. Acts a negative regulator in the IFN-gamma-mediated JAK-STAT signaling cascade by inhibiting smooth muscle cell (VSMCs) proliferation and intimal expansion, and thus, prevents graft arteriosclerosis (GA). Acts as a GTPase-activating protein (GAP) for the ADP ribosylation factor 6 (ARF6) and Ras. Promotes hydrolysis of the ARF6-bound GTP and thus, negatively regulates phosphatidylinositol 4,5-bisphosphate (PIP2)-dependent TLR4-TIRAP-MyD88 and NF-kappa-B signaling pathways in endothelial cells in response to lipopolysaccharides (LPS). Binds specifically to phosphatidylinositol 4-phosphate (PtdIns4P) and phosphatidylinositol 3-phosphate (PtdIns3P). In response to vascular endothelial growth factor (VEGFA), acts as a negative regulator of the VEGFR2-PI3K-mediated angiogenic signaling pathway by inhibiting endothelial cell migration and tube formation. In the developing brain, promotes both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex in a glial-dependent locomotion process. Probable downstream effector of the Reelin signaling pathway; promotes Purkinje cell (PC) dendrites development and formation of cerebellar synapses. Functions also as a tumor suppressor protein in prostate cancer progression; prevents cell proliferation and epithelial-to-mesenchymal transition (EMT) through activation of the glycogen synthase kinase-3 beta (GSK3B)-induced beta-catenin and inhibition of PI3K-AKT and Ras-MAPK survival downstream signaling cascades, respectively. {ECO:0000269|PubMed:12813029, ECO:0000269|PubMed:17389591, ECO:0000269|PubMed:18292600, ECO:0000269|PubMed:19033661, ECO:0000269|PubMed:19903888, ECO:0000269|PubMed:19948740, ECO:0000269|PubMed:20080667, ECO:0000269|PubMed:20154697, ECO:0000269|PubMed:21700930, ECO:0000269|PubMed:22696229}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of EPHA7_DAB2IP |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| EPHA7 | Q15375 | human | GLO1 | Q04760 | Y136 | GIAVPDVysACkRFE | Glyoxalase |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| EPHA7 | ID | Description | 0.00e+00 |
| EPHA7 | GO:0006749 | glutathione metabolic process | 1.11e-02 |
| EPHA7 | GO:0006081 | cellular aldehyde metabolic process | 1.11e-02 |
| EPHA7 | GO:0030316 | osteoclast differentiation | 1.12e-02 |
| EPHA7 | GO:0042180 | cellular ketone metabolic process | 1.49e-02 |
| EPHA7 | GO:0002573 | myeloid leukocyte differentiation | 1.49e-02 |
| EPHA7 | GO:0030099 | myeloid cell differentiation | 2.28e-02 |
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Related Drugs to EPHA7_DAB2IP |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning EPHA7-DAB2IP and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to EPHA7_DAB2IP |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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