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Kinase Fusion Gene:DDR1_TERF2IP |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: DDR1_TERF2IP | KinaseFusionDB ID: KFG1654 | FusionGDB2.0 ID: KFG1654 | Hgene | Tgene | Gene symbol | DDR1 | TERF2IP | Gene ID | 780 | 54386 | |
| Gene name | discoidin domain receptor tyrosine kinase 1 | TERF2 interacting protein | ||||||||||
| Synonyms | CAK|CD167|DDR|EDDR1|HGK2|MCK10|NEP|NTRK4|PTK3|PTK3A|RTK6|TRKE | DRIP5|RAP1 | ||||||||||
| Cytomap | 6p21.33 | 16q23.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | epithelial discoidin domain-containing receptor 1CD167 antigen-like family member APTK3A protein tyrosine kinase 3Acell adhesion kinasemammary carcinoma kinase 10neuroepithelial tyrosine kinaseneurotrophic tyrosine kinase, receptor, type 4protein-t | telomeric repeat-binding factor 2-interacting protein 1TERF2-interacting telomeric protein 1TRF2-interacting telomeric RAP1 proteindopamine receptor-interacting protein 5repressor/activator protein 1 homolog | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | Q08345 | Q9NYB0 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000324771, ENST00000376567, ENST00000376568, ENST00000376569, ENST00000376570, ENST00000376575, ENST00000446312, ENST00000452441, ENST00000454612, ENST00000259875, ENST00000361741, ENST00000383377, ENST00000400410, ENST00000400411, ENST00000400414, ENST00000400486, ENST00000400488, ENST00000400489, ENST00000400491, ENST00000400492, ENST00000412329, ENST00000415092, ENST00000418800, ENST00000419412, ENST00000421229, ENST00000422628, ENST00000427053, ENST00000429699, ENST00000430933, ENST00000434428, ENST00000449518, ENST00000453510, ENST00000454774, ENST00000462241, ENST00000468225, ENST00000483193, ENST00000487780, ENST00000488414, ENST00000490712, ENST00000508312, ENST00000508472, ENST00000513240, ENST00000548133, ENST00000548693, ENST00000548962, ENST00000549026, ENST00000550384, ENST00000550395, ENST00000550666, ENST00000552068, ENST00000552434, ENST00000552721, ENST00000553015, | ENST00000300086, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: DDR1 [Title/Abstract] AND TERF2IP [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DDR1(30867811)-TERF2IP(75691083), # 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 | DDR1 | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | 9659899|21044884 |
| Hgene | DDR1 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 21044884 |
| Hgene | DDR1 | GO:0046777 | protein autophosphorylation | 9659899 |
| Tgene | TERF2IP | GO:0000723 | telomere maintenance | 14565979 |
| Tgene | TERF2IP | GO:0016233 | telomere capping | 21852327 |
| Tgene | TERF2IP | GO:0032205 | negative regulation of telomere maintenance | 17055345 |
| Kinase Fusion gene breakpoints across DDR1 (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 TERF2IP (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 | BU676550 | DDR1 | chr6 | 30867811 | TERF2IP | chr16 | 75691083 |
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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/:30867811/:75691083) - 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 |
| DDR1 | TERF2IP |
| FUNCTION: Tyrosine kinase that functions as a cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11. {ECO:0000250, ECO:0000269|PubMed:12065315, ECO:0000269|PubMed:16234985, ECO:0000269|PubMed:16337946, ECO:0000269|PubMed:19401332, ECO:0000269|PubMed:20093046, ECO:0000269|PubMed:20432435, ECO:0000269|PubMed:20884741, ECO:0000269|PubMed:21044884, ECO:0000269|PubMed:9659899}. | FUNCTION: Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes. {ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:19763083}. |
| 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 DDR1_TERF2IP |
| 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 |
| DDR1 | Q08345 | human | DDR1 | Q08345 | Y569 | PQNSVPHyAEADIVT | |
| DDR1 | Q08345 | human | DDR1 | Q08345 | Y586 | GVTGGNTyAVPALPP |
| 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 |
| DDR1 | ID | Description | 0.00e+00 |
| DDR1 | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway | 9.22e-03 |
| DDR1 | GO:0038065 | collagen-activated signaling pathway | 9.22e-03 |
| DDR1 | GO:0010715 | regulation of extracellular matrix disassembly | 9.22e-03 |
| DDR1 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 9.22e-03 |
| DDR1 | GO:0060749 | mammary gland alveolus development | 9.22e-03 |
| DDR1 | GO:0061377 | mammary gland lobule development | 9.22e-03 |
| DDR1 | GO:0060444 | branching involved in mammary gland duct morphogenesis | 9.22e-03 |
| DDR1 | GO:0060603 | mammary gland duct morphogenesis | 1.02e-02 |
| DDR1 | GO:0044319 | wound healin | 1.96e-03 |
| DDR1 | GO:0090504 | epiboly | 1.02e-02 |
| DDR1 | GO:0007595 | lactation | 1.02e-02 |
| DDR1 | GO:0060443 | mammary gland morphogenesis | 1.02e-02 |
| DDR1 | GO:0002011 | morphogenesis of an epithelial sheet | 1.12e-02 |
| DDR1 | GO:0007566 | embryo implantation | 1.12e-02 |
| DDR1 | GO:0022617 | extracellular matrix disassembly | 1.12e-02 |
| DDR1 | GO:1903053 | regulation of extracellular matrix organization | 1.12e-02 |
| DDR1 | GO:0061180 | mammary gland epithelium development | 1.13e-02 |
| DDR1 | GO:0007589 | body fluid secretion | 1.46e-02 |
| DDR1 | GO:0014909 | smooth muscle cell migration | 1.48e-02 |
| DDR1 | GO:0014812 | muscle cell migration | 1.61e-02 |
| DDR1 | GO:0022612 | gland morphogenesis | 1.67e-02 |
| DDR1 | GO:0001952 | regulation of cell-matrix adhesion | 1.67e-02 |
| DDR1 | GO:0030879 | mammary gland development | 1.70e-02 |
| DDR1 | GO:0048754 | branching morphogenesis of an epithelial tube | 1.87e-02 |
| DDR1 | GO:0010976 | positive regulation of neuron projection development | 1.87e-02 |
| DDR1 | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.89e-02 |
| DDR1 | GO:1990138 | neuron projection extension | 1.89e-02 |
| DDR1 | GO:0007565 | female pregnancy | 1.89e-02 |
| DDR1 | GO:0061138 | morphogenesis of a branching epithelium | 1.89e-02 |
| DDR1 | GO:0046777 | protein autophosphorylation | 1.89e-02 |
| DDR1 | GO:0001763 | morphogenesis of a branching structure | 1.89e-02 |
| DDR1 | GO:0044703 | multi-organism reproductive process | 1.89e-02 |
| DDR1 | GO:0044706 | multi-multicellular organism process | 1.89e-02 |
| DDR1 | GO:0010810 | regulation of cell-substrate adhesion | 1.89e-02 |
| DDR1 | GO:0043583 | ear development | 1.89e-02 |
| DDR1 | GO:0007160 | cell-matrix adhesion | 1.91e-02 |
| DDR1 | GO:0048588 | developmental cell growth | 1.91e-02 |
| DDR1 | GO:0060560 | developmental growth involved in morphogenesis | 1.91e-02 |
| DDR1 | GO:0051896 | regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.91e-02 |
| DDR1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 2.03e-02 |
| DDR1 | GO:0018212 | peptidyl-tyrosine modification | 2.03e-02 |
| DDR1 | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 2.07e-02 |
| DDR1 | GO:0030198 | extracellular matrix organization | 2.16e-02 |
| DDR1 | GO:0043062 | extracellular structure organization | 2.16e-02 |
| DDR1 | GO:0045229 | external encapsulating structure organization | 2.16e-02 |
| DDR1 | GO:0060562 | epithelial tube morphogenesis | 2.16e-02 |
| DDR1 | GO:0033674 | positive regulation of kinase activity | 2.16e-02 |
| DDR1 | GO:0031346 | positive regulation of cell projection organization | 2.19e-02 |
| DDR1 | GO:0031589 | cell-substrate adhesion | 2.19e-02 |
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Related Drugs to DDR1_TERF2IP |
| 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 DDR1-TERF2IP 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 DDR1_TERF2IP |
| 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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