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Kinase Fusion Gene:TP53BP1_DAPK2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: TP53BP1_DAPK2 | KinaseFusionDB ID: KFG6689 | FusionGDB2.0 ID: KFG6689 | Hgene | Tgene | Gene symbol | TP53BP1 | DAPK2 | Gene ID | 7158 | 23604 | |
Gene name | tumor protein p53 binding protein 1 | death associated protein kinase 2 | ||||||||||
Synonyms | 53BP1|TDRD30|p202|p53BP1 | DRP-1|DRP1 | ||||||||||
Cytomap | 15q15.3 | 15q22.31 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | TP53-binding protein 1p53-binding protein 1tumor protein 53-binding protein, 1tumor suppressor p53-binding protein 1 | death-associated protein kinase 2DAP kinase 2 | ||||||||||
Modification date | 20240416 | 20240305 | ||||||||||
UniProtAcc | Q12888 | Q9UIK4 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000263801, ENST00000382039, ENST00000382044, ENST00000450115, ENST00000605155, | ENST00000558482, ENST00000261891, ENST00000457488, ENST00000558069, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TP53BP1 [Title/Abstract] AND DAPK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TP53BP1(43771595)-DAPK2(64263760), # samples:3 |
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 | TP53BP1 | GO:0006303 | double-strand break repair via nonhomologous end joining | 23333306|23760478|27153538|28241136|31135337 |
Hgene | TP53BP1 | GO:0006974 | DNA damage response | 17500065 |
Hgene | TP53BP1 | GO:0006974 | DNA damage response | 27153538|28241136 |
Hgene | TP53BP1 | GO:0045830 | positive regulation of isotype switching | 23345425 |
Hgene | TP53BP1 | GO:0051260 | protein homooligomerization | 23345425 |
Hgene | TP53BP1 | GO:0097680 | double-strand break repair via classical nonhomologous end joining | 27153538 |
Hgene | TP53BP1 | GO:1990166 | protein localization to site of double-strand break | 37696958 |
Hgene | TP53BP1 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 23333306|23345425 |
Tgene | DAPK2 | GO:0006468 | protein phosphorylation | 10376525 |
Tgene | DAPK2 | GO:0035556 | intracellular signal transduction | 10376525 |
Kinase Fusion gene breakpoints across TP53BP1 (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 DAPK2 (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-DU-A7TC-01A | TP53BP1 | chr15 | 43771595 | DAPK2 | chr15 | 64263760 |
ChimerDB4 | TCGA-DU-A7TC | TP53BP1 | chr15 | 43771594 | DAPK2 | chr15 | 64263760 |
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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/chr15:43771595/chr15:64263760) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TP53BP1 | DAPK2 |
FUNCTION: Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis (PubMed:12364621, PubMed:22553214, PubMed:23333306, PubMed:17190600, PubMed:21144835, PubMed:27153538, PubMed:28241136, PubMed:31135337). Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1 (PubMed:22553214, PubMed:23727112, PubMed:23333306, PubMed:27153538, PubMed:31135337). In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites (PubMed:28241136). Recruited to DSBs sites by recognizing and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites (PubMed:23760478, PubMed:27153538, PubMed:28241136, PubMed:17190600). Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (PubMed:23345425). Participates in the repair and the orientation of the broken DNA ends during CSR (By similarity). In contrast, it is not required for classic NHEJ and V(D)J recombination (By similarity). Promotes NHEJ of dysfunctional telomeres via interaction with PAXIP1 (PubMed:23727112). {ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:12364621, ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:22553214, ECO:0000269|PubMed:23333306, ECO:0000269|PubMed:23345425, ECO:0000269|PubMed:23727112, ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:27153538, ECO:0000269|PubMed:28241136, ECO:0000269|PubMed:31135337}. | FUNCTION: Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421). {ECO:0000269|PubMed:17347302, ECO:0000269|PubMed:24163421, ECO:0000269|PubMed:26047703}.; FUNCTION: Isoform 2 is not regulated by calmodulin. It can phosphorylate MYL9. It can induce membrane blebbing and autophagic cell death. |
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 TP53BP1_DAPK2 |
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 |
DAPK2 | Q9UIK4 | human | DAPK2 | Q9UIK4 | S318 | VRRRWKLsFsIVSLC | |
DAPK2 | Q9UIK4 | human | RPTOR | Q8N122 | S721 | tPrLrsVssyGNIRA | |
DAPK2 | Q9UIK4 | human | MAPT | P10636-8 | S214 | GsRsRtPsLPtPPtR |
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 |
DAPK2 | ID | Description | 0.00e+00 |
DAPK2 | GO:0010506 | regulation of autophagy | 2.00e-03 |
DAPK2 | GO:0045834 | positive regulation of lipid metabolic process | 2.21e-02 |
DAPK2 | GO:0030307 | positive regulation of cell growth | 2.21e-02 |
DAPK2 | GO:0008361 | regulation of cell size | 2.21e-02 |
DAPK2 | GO:0045927 | positive regulation of growth | 2.90e-02 |
DAPK2 | GO:0062197 | cellular response to chemical stress | 2.90e-02 |
DAPK2 | GO:0033674 | positive regulation of kinase activity | 2.90e-02 |
DAPK2 | GO:0019216 | regulation of lipid metabolic process | 2.90e-02 |
DAPK2 | GO:0032535 | regulation of cellular component size | 2.90e-02 |
DAPK2 | GO:0051347 | positive regulation of transferase activity | 2.90e-02 |
DAPK2 | GO:0001558 | regulation of cell growth | 2.90e-02 |
DAPK2 | GO:0010720 | positive regulation of cell development | 2.90e-02 |
DAPK2 | GO:0071895 | odontoblast differentiation | 2.90e-02 |
DAPK2 | GO:0010917 | negative regulation of mitochondrial membrane potential | 2.90e-02 |
DAPK2 | GO:0045837 | negative regulation of membrane potential | 2.90e-02 |
DAPK2 | GO:0071233 | cellular response to leucine | 2.90e-02 |
DAPK2 | GO:0016049 | cell growth | 2.90e-02 |
DAPK2 | GO:1900452 | regulation of long-term synaptic depression | 2.90e-02 |
DAPK2 | GO:0043201 | response to leucine | 2.90e-02 |
DAPK2 | GO:0032930 | positive regulation of superoxide anion generation | 2.90e-02 |
DAPK2 | GO:1900034 | regulation of cellular response to heat | 2.90e-02 |
DAPK2 | GO:0048311 | mitochondrion distribution | 2.90e-02 |
DAPK2 | GO:0019896 | axonal transport of mitochondrion | 2.90e-02 |
DAPK2 | GO:0045945 | positive regulation of transcription by RNA polymerase III | 2.90e-02 |
DAPK2 | GO:0032928 | regulation of superoxide anion generation | 2.90e-02 |
DAPK2 | GO:0006098 | pentose-phosphate shunt | 2.90e-02 |
DAPK2 | GO:0010288 | response to lead ion | 2.90e-02 |
DAPK2 | GO:0045981 | positive regulation of nucleotide metabolic process | 2.90e-02 |
DAPK2 | GO:0090043 | regulation of tubulin deacetylation | 2.90e-02 |
DAPK2 | GO:1900544 | positive regulation of purine nucleotide metabolic process | 2.90e-02 |
DAPK2 | GO:0045821 | positive regulation of glycolytic process | 2.90e-02 |
DAPK2 | GO:1902473 | regulation of protein localization to synapse | 2.90e-02 |
DAPK2 | GO:0006740 | NADPH regeneration | 2.90e-02 |
DAPK2 | GO:0090042 | tubulin deacetylation | 2.90e-02 |
DAPK2 | GO:0070841 | inclusion body assembly | 2.90e-02 |
DAPK2 | GO:0048143 | astrocyte activation | 2.90e-02 |
DAPK2 | GO:0090023 | positive regulation of neutrophil chemotaxis | 2.90e-02 |
DAPK2 | GO:0034643 | establishment of mitochondrion localizatio | 4.13e-03 |
DAPK2 | GO:0090218 | positive regulation of lipid kinase activity | 2.90e-02 |
DAPK2 | GO:0045672 | positive regulation of osteoclast differentiation | 2.90e-02 |
DAPK2 | GO:0048245 | eosinophil chemotaxis | 2.90e-02 |
DAPK2 | GO:0071624 | positive regulation of granulocyte chemotaxis | 2.90e-02 |
DAPK2 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 2.90e-02 |
DAPK2 | GO:0051156 | glucose 6-phosphate metabolic process | 2.90e-02 |
DAPK2 | GO:0006359 | regulation of transcription by RNA polymerase III | 2.90e-02 |
DAPK2 | GO:0051654 | establishment of mitochondrion localization | 2.90e-02 |
DAPK2 | GO:0090140 | regulation of mitochondrial fission | 2.90e-02 |
DAPK2 | GO:0034063 | stress granule assembly | 2.90e-02 |
DAPK2 | GO:0090322 | regulation of superoxide metabolic process | 2.90e-02 |
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Related Drugs to TP53BP1_DAPK2 |
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 TP53BP1-DAPK2 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 TP53BP1_DAPK2 |
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 |