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Kinase Fusion Gene:CHCHD6_EPHB1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CHCHD6_EPHB1 | KinaseFusionDB ID: KFG1256 | FusionGDB2.0 ID: KFG1256 | Hgene | Tgene | Gene symbol | CHCHD6 | EPHB1 | Gene ID | 84303 | 2047 | |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 6 | EPH receptor B1 | ||||||||||
| Synonyms | CHCM1|MICOS25|Mic25|PPP1R23 | ELK|EPHT2|Hek6|NET | ||||||||||
| Cytomap | 3q21.3 | 3q22.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | MICOS complex subunit MIC25coiled coil helix cristae morphology 1coiled-coil-helix cristae morphology protein 1coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrialmitochondrial contact site and cristae organizing system subun | ephrin type-B receptor 1EK6EPH-like kinase 6eph tyrosine kinase 2neuronally-expressed EPH-related tyrosine kinasetyrosine-protein kinase receptor EPH-2 | ||||||||||
| Modification date | 20240305 | 20240411 | ||||||||||
| UniProtAcc | Q9BRQ6 | P54762 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000290913, ENST00000508789, ENST00000515867, | ENST00000488154, ENST00000493838, ENST00000398015, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CHCHD6 [Title/Abstract] AND EPHB1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CHCHD6(126452065)-EPHB1(134644658), # 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 | CHCHD6 | GO:0006974 | DNA damage response | 22228767 |
| Tgene | EPHB1 | GO:0001525 | angiogenesis | 9499402 |
| Tgene | EPHB1 | GO:0031589 | cell-substrate adhesion | 9430661 |
| Tgene | EPHB1 | GO:0046328 | regulation of JNK cascade | 9430661 |
| Tgene | EPHB1 | GO:0046777 | protein autophosphorylation | 18034775 |
| Tgene | EPHB1 | GO:0048013 | ephrin receptor signaling pathway | 12925710|18034775 |
| Tgene | EPHB1 | GO:0060326 | cell chemotaxis | 12925710 |
| Tgene | EPHB1 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 12925710|18034775 |
| Kinase Fusion gene breakpoints across CHCHD6 (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 EPHB1 (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 |
| ChimerDB4 | TCGA-A8-A07C-01A | CHCHD6 | chr3 | 126452065 | EPHB1 | chr3 | 134644658 |
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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/:126452065/:134644658) - 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 |
| CHCHD6 | EPHB1 |
| FUNCTION: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. {ECO:0000269|PubMed:22228767}. | FUNCTION: Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B 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. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotemporal retinal ganglion cells axons at the optic chiasm midline. This probably requires repulsive interaction with EFNB2. In the adult nervous system together with EFNB3, regulates chemotaxis, proliferation and polarity of the hippocampus neural progenitors. In addition to its role in axon guidance also plays an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and synapse formation. May also regulate angiogenesis. More generally, may play a role in targeted cell migration and adhesion. Upon activation by EFNB1 and probably other ephrin-B ligands activates the MAPK/ERK and the JNK signaling cascades to regulate cell migration and adhesion respectively. Involved in the maintenance of the pool of satellite cells (muscle stem cells) by promoting their self-renewal and reducing their activation and differentiation (By similarity). {ECO:0000250|UniProtKB:Q8CBF3, ECO:0000269|PubMed:12223469, ECO:0000269|PubMed:12925710, ECO:0000269|PubMed:18034775, ECO:0000269|PubMed:9430661, ECO:0000269|PubMed:9499402}. |
| 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 CHCHD6_EPHB1 |
| 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 |
| EPHB1 | P54762 | human | GJB1 | P08034 | Y243 | GHRLsPEyKQNEINk |
| 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 |
| EPHB1 | ID | Description | 0.00e+00 |
| EPHB1 | GO:0016264 | gap junction assembly | 5.83e-03 |
| EPHB1 | GO:0015868 | purine ribonucleotide transport | 5.83e-03 |
| EPHB1 | GO:0015865 | purine nucleotide transport | 5.83e-03 |
| EPHB1 | GO:0006862 | nucleotide transport | 5.83e-03 |
| EPHB1 | GO:1901264 | carbohydrate derivative transport | 9.01e-03 |
| EPHB1 | GO:0015748 | organophosphate ester transport | 1.19e-02 |
| EPHB1 | GO:0007043 | cell-cell junction assembly | 1.19e-02 |
| EPHB1 | GO:0045216 | cell-cell junction organization | 1.32e-02 |
| EPHB1 | GO:0015931 | nucleobase-containing compound transport | 1.32e-02 |
| EPHB1 | GO:0034329 | cell junction assembly | 2.36e-02 |
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Related Drugs to CHCHD6_EPHB1 |
| 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 CHCHD6-EPHB1 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 CHCHD6_EPHB1 |
| 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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