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Fusion gene ID: 40249 |
FusionGeneSummary for TYRO3_TJP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TYRO3_TJP1 | Fusion gene ID: 40249 | Hgene | Tgene | Gene symbol | TYRO3 | TJP1 | Gene ID | 7301 | 7082 |
| Gene name | TYRO3 protein tyrosine kinase | tight junction protein 1 | |
| Synonyms | BYK|Dtk|Etk-2|RSE|Rek|Sky|Tif | ZO-1 | |
| Cytomap | 15q15.1 | 15q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase receptor TYRO3tyrosine-protein kinase DTKtyrosine-protein kinase RSEtyrosine-protein kinase SKYtyrosine-protein kinase TIFtyrosine-protein kinase byk | tight junction protein ZO-1zona occludens 1zonula occludens 1 protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q06418 | Q07157 | |
| Ensembl transtripts involved in fusion gene | ENST00000559066, ENST00000263798, | ENST00000346128, ENST00000400011, ENST00000356107, ENST00000545208, ENST00000495972, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 6 X 3=90 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TYRO3 [Title/Abstract] AND TJP1 [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 | TYRO3 | GO:0046777 | protein autophosphorylation | 7511603|7537495 |
| 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 |
| ChiTaRS3.1 | BE843213 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| * 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-intron | ENST00000559066 | ENST00000346128 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000559066 | ENST00000400011 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000559066 | ENST00000356107 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000559066 | ENST00000545208 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000559066 | ENST00000495972 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000263798 | ENST00000346128 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000263798 | ENST00000400011 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000263798 | ENST00000356107 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000263798 | ENST00000545208 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
| intron-intron | ENST00000263798 | ENST00000495972 | TYRO3 | chr15 | 41866613 | + | TJP1 | chr15 | 30093030 | - |
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FusionProtFeatures for TYRO3_TJP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TYRO3 | TJP1 |
| Receptor tyrosine kinase that transduces signals fromthe extracellular matrix into the cytoplasm by binding to severalligands including TULP1 or GAS6. Regulates many physiologicalprocesses including cell survival, migration and differentiation.Ligand binding at the cell surface induces dimerization andautophosphorylation of TYRO3 on its intracellular domain thatprovides docking sites for downstream signaling molecules.Following activation by ligand, interacts with PIK3R1 and therebyenhances PI3-kinase activity. Activates the AKT survival pathway,including nuclear translocation of NF-kappa-B and up-regulation oftranscription of NF-kappa-B-regulated genes. TYRO3 signaling playsa role in various processes such as neuron protection fromexcitotoxic injury, platelet aggregation and cytoskeletonreorganization. Plays also an important role in inhibition ofToll-like receptors (TLRs)-mediated innate immune response byactivating STAT1, which selectively induces production ofsuppressors of cytokine signaling SOCS1 and SOCS3.{ECO:0000269|PubMed:20546121}. (Microbial infection) Acts as a receptor for lassa virusand lymphocytic choriomeningitis virus, possibly through GAS6binding to phosphatidyl-serine at the surface of virion envelope.{ECO:0000269|PubMed:22156524, ECO:0000269|PubMed:22673088,ECO:0000269|PubMed:25277499}. (Microbial infection) Acts as a receptor for Ebolavirus,possibly through GAS6 binding to phosphatidyl-serine at thesurface of virion envelope. {ECO:0000269|PubMed:17005688}. | TJP1, TJP2, and TJP3 are closely related scaffoldingproteins that link tight junction (TJ) transmembrane proteins suchas claudins, junctional adhesion molecules, and occludin to theactin cytoskeleton (PubMed:7798316, PubMed:9792688). The tightjunction acts to limit movement of substances through theparacellular space and as a boundary between the compositionallydistinct apical and basolateral plasma membrane domains ofepithelial and endothelial cells. Necessary for lumenogenesis, andparticularly efficient epithelial polarization and barrierformation (By similarity). Plays a role in the regulation of cellmigration by targeting CDC42BPB to the leading edge of migratingcells (PubMed:21240187). Plays an important role in podosomeformation and associated function, thus regulating cell adhesionand matrix remodeling (PubMed:20930113). With TJP2 and TJP3,participates to the junctional retention and stability of thetranscription factor DBPA, but is not involved in its shuttling tothe nucleus (By similarity). {ECO:0000250|UniProtKB:O97758,ECO:0000269|PubMed:20930113, ECO:0000269|PubMed:21240187}. |
| 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 TYRO3_TJP1 |
| 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 TYRO3_TJP1 |
| 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 |
| - 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 TYRO3_TJP1 |
| 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 TYRO3_TJP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TYRO3 | C0040053 | Thrombosis | 1 | CTD_human |
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