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Kinase Fusion Gene:HIPK3_TOLLIP |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: HIPK3_TOLLIP | KinaseFusionDB ID: KFG2710 | FusionGDB2.0 ID: KFG2710 | Hgene | Tgene | Gene symbol | HIPK3 | TOLLIP | Gene ID | 10114 | 54472 | |
| Gene name | homeodomain interacting protein kinase 3 | toll interacting protein | ||||||||||
| Synonyms | DYRK6|FIST3|PKY|YAK1 | IL-1RAcPIP | ||||||||||
| Cytomap | 11p13 | 11p15.5 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | homeodomain-interacting protein kinase 3ANPKFISTandrogen receptor-interacting nuclear protein kinasefas-interacting serine/threonine-protein kinasehomolog of protein kinase YAK1 | toll-interacting proteinadapter protein | ||||||||||
| Modification date | 20240403 | 20240407 | ||||||||||
| UniProtAcc | Q9H422 | Q9H0E2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000303296, ENST00000379016, ENST00000456517, ENST00000525975, ENST00000534262, | ENST00000317204, ENST00000525159, ENST00000527886, ENST00000263646, ENST00000527938, ENST00000528719, ENST00000542915, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: HIPK3 [Title/Abstract] AND TOLLIP [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HIPK3(33279435)-TOLLIP(1317024), # 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 | HIPK3 | GO:0006468 | protein phosphorylation | 14766760 |
| Hgene | HIPK3 | GO:0009299 | mRNA transcription | 17210646 |
| Tgene | TOLLIP | GO:0016310 | phosphorylation | 1085432 |
| Tgene | TOLLIP | GO:0036010 | protein localization to endosome | 16412388 |
| Tgene | TOLLIP | GO:0070498 | interleukin-1-mediated signaling pathway | 10854325 |
| Kinase Fusion gene breakpoints across HIPK3 (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 TOLLIP (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-BH-A0DD-01A | HIPK3 | chr11 | 33279435 | TOLLIP | chr11 | 1317024 |
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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/:33279435/:1317024) - 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 |
| HIPK3 | TOLLIP |
| FUNCTION: Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphorylates RUNX2 that synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). {ECO:0000269|PubMed:14766760, ECO:0000269|PubMed:17210646}. | FUNCTION: Component of the signaling pathway of IL-1 and Toll-like receptors (PubMed:10854325, PubMed:11751856). Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex (PubMed:10854325). Inhibits IRAK1 phosphorylation and kinase activity (PubMed:11751856). Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates (PubMed:25042851). The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (PubMed:25042851). In a complex with TOM1, recruits ubiquitin-conjugated proteins onto early endosomes (PubMed:15047686). Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:26320582). {ECO:0000269|PubMed:10854325, ECO:0000269|PubMed:11751856, ECO:0000269|PubMed:15047686, ECO:0000269|PubMed:25042851, ECO:0000269|PubMed:26320582}. |
| 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 HIPK3_TOLLIP |
| 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 |
| HIPK3 | Q9H422 | human | DAXX | Q9UER7 | S668 | KKICtLPsPPsPLAs |
| 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 |
| HIPK3 | ID | Description | 0.00e+00 |
| HIPK3 | GO:0071243 | cellular response to arsenic-containing substance | 1.41e-02 |
| HIPK3 | GO:0036480 | neuron intrinsic apoptotic signaling pathway in response to oxidative stress | 1.41e-02 |
| HIPK3 | GO:0071280 | cellular response to copper ion | 1.41e-02 |
| HIPK3 | GO:0046685 | response to arsenic-containing substance | 1.41e-02 |
| HIPK3 | GO:0046688 | response to copper ion | 1.41e-02 |
| HIPK3 | GO:0071276 | cellular response to cadmium ion | 1.41e-02 |
| HIPK3 | GO:0030521 | androgen receptor signaling pathway | 1.50e-02 |
| HIPK3 | GO:0046686 | response to cadmium ion | 1.50e-02 |
| HIPK3 | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 1.50e-02 |
| HIPK3 | GO:0034605 | cellular response to heat | 1.50e-02 |
| HIPK3 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 1.66e-02 |
| HIPK3 | GO:0034620 | cellular response to unfolded protein | 1.66e-02 |
| HIPK3 | GO:0009408 | response to heat | 1.66e-02 |
| HIPK3 | GO:0035967 | cellular response to topologically incorrect protein | 1.66e-02 |
| HIPK3 | GO:0006334 | nucleosome assembly | 1.66e-02 |
| HIPK3 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 1.66e-02 |
| HIPK3 | GO:0006986 | response to unfolded protein | 1.66e-02 |
| HIPK3 | GO:0034728 | nucleosome organization | 1.66e-02 |
| HIPK3 | GO:0043401 | steroid hormone mediated signaling pathway | 1.66e-02 |
| HIPK3 | GO:0035966 | response to topologically incorrect protein | 1.68e-02 |
| HIPK3 | GO:0007254 | JNK cascade | 1.68e-02 |
| HIPK3 | GO:0009266 | response to temperature stimulus | 1.68e-02 |
| HIPK3 | GO:0009755 | hormone-mediated signaling pathway | 1.68e-02 |
| HIPK3 | GO:1902075 | cellular response to salt | 1.68e-02 |
| HIPK3 | GO:0031396 | regulation of protein ubiquitination | 1.68e-02 |
| HIPK3 | GO:0071248 | cellular response to metal ion | 1.68e-02 |
| HIPK3 | GO:0071383 | cellular response to steroid hormone stimulus | 1.68e-02 |
| HIPK3 | GO:0071241 | cellular response to inorganic substance | 1.68e-02 |
| HIPK3 | GO:0097191 | extrinsic apoptotic signaling pathway | 1.68e-02 |
| HIPK3 | GO:0051403 | stress-activated MAPK cascade | 1.68e-02 |
| HIPK3 | GO:0031098 | stress-activated protein kinase signaling cascade | 1.68e-02 |
| HIPK3 | GO:0065004 | protein-DNA complex assembly | 1.68e-02 |
| HIPK3 | GO:1903320 | regulation of protein modification by small protein conjugation or removal | 1.68e-02 |
| HIPK3 | GO:0051402 | neuron apoptotic process | 1.80e-02 |
| HIPK3 | GO:0045860 | positive regulation of protein kinase activity | 1.80e-02 |
| HIPK3 | GO:1901873 | regulation of post-translational protein modification | 1.80e-02 |
| HIPK3 | GO:0097193 | intrinsic apoptotic signaling pathway | 1.96e-02 |
| HIPK3 | GO:0048545 | response to steroid hormone | 1.97e-02 |
| HIPK3 | GO:0033674 | positive regulation of kinase activity | 1.97e-02 |
| HIPK3 | GO:0030522 | intracellular receptor signaling pathway | 1.99e-02 |
| HIPK3 | GO:0010038 | response to metal ion | 1.99e-02 |
| HIPK3 | GO:1902074 | response to salt | 1.99e-02 |
| HIPK3 | GO:0051347 | positive regulation of transferase activity | 2.19e-02 |
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Related Drugs to HIPK3_TOLLIP |
| 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 HIPK3-TOLLIP 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 HIPK3_TOLLIP |
| 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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