| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:APOLD1_BUB1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: APOLD1_BUB1 | KinaseFusionDB ID: KFG392 | FusionGDB2.0 ID: KFG392 | Hgene | Tgene | Gene symbol | APOLD1 | BUB1 | Gene ID | 81575 | 699 | |
| Gene name | apolipoprotein L domain containing 1 | BUB1 mitotic checkpoint serine/threonine kinase | ||||||||||
| Synonyms | BDVAS|VERGE | BUB1A|BUB1L|MCPH30|hBUB1 | ||||||||||
| Cytomap | 12p13.1 | 2q13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | apolipoprotein L domain-containing protein 1vascular early response gene protein | mitotic checkpoint serine/threonine-protein kinase BUB1BUB1 budding uninhibited by benzimidazoles 1 homologbudding uninhibited by benzimidazoles 1 homologmitotic spindle checkpoint kinaseputative serine/threonine-protein kinase | ||||||||||
| Modification date | 20240305 | 20240403 | ||||||||||
| UniProtAcc | Q96LR9 | O60566 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000326765, ENST00000356591, | ENST00000478175, ENST00000302759, ENST00000409311, ENST00000535254, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: APOLD1 [Title/Abstract] AND BUB1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | APOLD1(12879030)-BUB1(111399811), # 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 |
| Tgene | BUB1 | GO:0007063 | regulation of sister chromatid cohesion | 15723797 |
| Kinase Fusion gene breakpoints across APOLD1 (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 BUB1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
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-BR-A4PE-01A | APOLD1 | chr12 | 12879030 | BUB1 | chr2 | 111399811 |
Top |
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) |
Top |
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 |
Top |
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/:12879030/:111399811) - 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 |
| APOLD1 | BUB1 |
| FUNCTION: May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability. {ECO:0000269|PubMed:15102925}. | FUNCTION: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression. {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:19411850, ECO:0000269|PubMed:19503101}. |
| 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 |
Top |
Kinase-Substrate Information of APOLD1_BUB1 |
| 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 |
| BUB1 | O43683 | human | BUB3 | O43684 | S19 | PPEDGISsVkFSPNT | WD40 |
| BUB1 | O43683 | human | CDC20 | Q12834 | S72 | SkVQttPskPGGDRy | |
| BUB1 | O43683 | human | BUB1 | O43683 | T589 | WGIRCNktLAPsPks | |
| BUB1 | O43683 | human | BUB1 | O43683 | S563 | RsVSRLPsKPKEEVP | |
| BUB1 | O43683 | human | CDC20 | Q12834 | S41 | EAAGPAPsPMRAANR | |
| BUB1 | O43683 | human | CDC20 | Q12834 | S161 | QkAtPGssRKtCRYI | |
| BUB1 | O43683 | human | BUB1 | O43683 | S510 | QFQkNVRssGAWGVN | |
| BUB1 | O43683 | human | BUB1 | O43683 | S667 | ksPkQALssHMysAS | |
| BUB1 | O43683 | human | BUB1 | O43683 | S969 | FTAKCETsGFQCVEM | Pkinase |
| BUB1 | O43683 | human | BUB1 | O43683 | T960 | MKLFPkGtIFTAKCE | Pkinase |
| BUB1 | O43683 | human | BUB1 | O43683 | T148 | RLFQTRLtETHLPAQ | |
| BUB1 | O43683 | human | BUB1 | O43683 | T552 | NKPTGARtFGERsVS | |
| BUB1 | O43683 | human | BUB1 | O43683 | T213 | NMERRVItISkSEys | |
| BUB1 | O43683 | human | CDC20 | Q12834 | S153 | NRLkVLysQkAtPGs | |
| BUB1 | O43683 | human | STAT3 | P40763 | S727 | NtIDLPMsPrTLDSL | |
| BUB1 | O43683 | human | CDC20 | Q12834 | S92 | AAQMEVAsFLLSkEN | |
| BUB1 | O43683 | human | BUB1 | O43683 | S419 | THEFkPQsGAEIKEG | |
| BUB1 | O43683 | human | BUB1 | O43683 | S679 | sASLLRLsQPAAGGV | |
| BUB1 | O43683 | human | BUB1 | O43683 | T173 | QVLNQMItSksNPGN | |
| BUB1 | O43683 | human | CDC20 | Q12834 | T157 | VLysQkAtPGssRKt | |
| BUB1 | O43683 | human | BUB1 | O43683 | S454 | GMVQAtPskVQPsPt | |
| BUB1 | O43683 | human | H2AC17 | P0C0S8 | T120 | AVLLPkktEsHHkAk | Histone_H2A_C |
| BUB1 | O43683 | human | BUB1 | O43683 | S511 | FQkNVRssGAWGVNK | |
| BUB1 | O43683 | human | BUB1 | O43683 | S618 | FHkLPVEsVHILEDk | |
| BUB1 | O43683 | human | BUB1 | O43683 | S176 | NQMItSksNPGNNMA | |
| BUB1 | O43683 | human | BUB1 | O43683 | S752 | KLIFKLLsGLskPVS | |
| BUB1 | O43683 | human | BUB1 | O43683 | S525 | KIISSLSsAFHVFED | |
| BUB1 | O43683 | human | BUB1 | O43683 | S198 | SELsGVIsSACDkES |
| 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 |
| BUB1 | ID | Description | 0.00e+00 |
| BUB1 | GO:0007094 | mitotic spindle assembly checkpoint signaling | 5.30e-06 |
| BUB1 | GO:0071173 | spindle assembly checkpoint signaling | 5.30e-06 |
| BUB1 | GO:0071174 | mitotic spindle checkpoint signaling | 5.30e-06 |
| BUB1 | GO:0031577 | spindle checkpoint signaling | 5.30e-06 |
| BUB1 | GO:0033046 | negative regulation of sister chromatid segregation | 5.30e-06 |
| BUB1 | GO:0033048 | negative regulation of mitotic sister chromatid segregation | 5.30e-06 |
| BUB1 | GO:0045841 | negative regulation of mitotic metaphase/anaphase transition | 5.30e-06 |
| BUB1 | GO:2000816 | negative regulation of mitotic sister chromatid separation | 5.30e-06 |
| BUB1 | GO:0051985 | negative regulation of chromosome segregation | 5.30e-06 |
| BUB1 | GO:1902100 | negative regulation of metaphase/anaphase transition of cell cycle | 5.30e-06 |
| BUB1 | GO:1905819 | negative regulation of chromosome separation | 5.30e-06 |
| BUB1 | GO:0033047 | regulation of mitotic sister chromatid segregation | 6.14e-06 |
| BUB1 | GO:0045839 | negative regulation of mitotic nuclear division | 6.33e-06 |
| BUB1 | GO:0010965 | regulation of mitotic sister chromatid separation | 6.90e-06 |
| BUB1 | GO:0051306 | mitotic sister chromatid separation | 7.37e-06 |
| BUB1 | GO:0051784 | negative regulation of nuclear division | 7.37e-06 |
| BUB1 | GO:1905818 | regulation of chromosome separation | 1.13e-05 |
| BUB1 | GO:0051304 | chromosome separation | 1.41e-05 |
| BUB1 | GO:0030071 | regulation of mitotic metaphase/anaphase transition | 1.80e-05 |
| BUB1 | GO:1902099 | regulation of metaphase/anaphase transition of cell cycle | 1.80e-05 |
| BUB1 | GO:0007091 | metaphase/anaphase transition of mitotic cell cycle | 1.80e-05 |
| BUB1 | GO:2001251 | negative regulation of chromosome organization | 1.80e-05 |
| BUB1 | GO:0044784 | metaphase/anaphase transition of cell cycle | 1.90e-05 |
| BUB1 | GO:0033045 | regulation of sister chromatid segregation | 2.25e-05 |
| BUB1 | GO:0007088 | regulation of mitotic nuclear division | 3.16e-05 |
| BUB1 | GO:0051983 | regulation of chromosome segregation | 4.16e-05 |
| BUB1 | GO:0007093 | mitotic cell cycle checkpoint signaling | 5.10e-05 |
| BUB1 | GO:0051783 | regulation of nuclear division | 5.35e-05 |
| BUB1 | GO:0000070 | mitotic sister chromatid segregation | 1.04e-04 |
| BUB1 | GO:0000075 | cell cycle checkpoint signaling | 1.14e-04 |
| BUB1 | GO:1901991 | negative regulation of mitotic cell cycle phase transition | 1.17e-04 |
| BUB1 | GO:0000819 | sister chromatid segregation | 1.72e-04 |
| BUB1 | GO:0033044 | regulation of chromosome organization | 2.16e-04 |
| BUB1 | GO:0045930 | negative regulation of mitotic cell cycle | 2.16e-04 |
| BUB1 | GO:0007064 | mitotic sister chromatid cohesion | 2.48e-04 |
| BUB1 | GO:0140014 | mitotic nuclear division | 2.75e-04 |
| BUB1 | GO:1901988 | negative regulation of cell cycle phase transition | 2.76e-04 |
| BUB1 | GO:0098813 | nuclear chromosome segregation | 3.84e-04 |
| BUB1 | GO:0010948 | negative regulation of cell cycle process | 4.03e-04 |
| BUB1 | GO:1901990 | regulation of mitotic cell cycle phase transition | 5.36e-04 |
| BUB1 | GO:0010639 | negative regulation of organelle organization | 5.59e-04 |
| BUB1 | GO:0007062 | sister chromatid cohesion | 7.49e-04 |
| BUB1 | GO:0045786 | negative regulation of cell cycle | 7.49e-04 |
| BUB1 | GO:0007059 | chromosome segregation | 8.27e-04 |
| BUB1 | GO:0000280 | nuclear division | 9.09e-04 |
| BUB1 | GO:1901987 | regulation of cell cycle phase transition | 9.82e-04 |
| BUB1 | GO:0044772 | mitotic cell cycle phase transition | 1.05e-03 |
| BUB1 | GO:0048285 | organelle fission | 1.15e-03 |
| BUB1 | GO:0090068 | positive regulation of cell cycle process | 1.27e-02 |
Top |
Related Drugs to APOLD1_BUB1 |
| 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 APOLD1-BUB1 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 |
Top |
Related Diseases to APOLD1_BUB1 |
| 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 |
Top |
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 |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |