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Fusion gene ID: 39100 |
FusionGeneSummary for TOPBP1_CEP135 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TOPBP1_CEP135 | Fusion gene ID: 39100 | Hgene | Tgene | Gene symbol | TOPBP1 | CEP135 | Gene ID | 11073 | 9662 |
| Gene name | DNA topoisomerase II binding protein 1 | centrosomal protein 135 | |
| Synonyms | TOP2BP1 | CEP4|KIAA0635|MCPH8 | |
| Cytomap | 3q22.1 | 4q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA topoisomerase 2-binding protein 1DNA topoisomerase II-beta-binding protein 1topoisomerase (DNA) II binding protein 1 | centrosomal protein of 135 kDacentrosomal protein 135kDacentrosomal protein 4centrosome protein cep135 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q92547 | Q66GS9 | |
| Ensembl transtripts involved in fusion gene | ENST00000260810, ENST00000511439, | ENST00000257287, ENST00000422247, | |
| Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 2 X 2 X 2=8 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TOPBP1 [Title/Abstract] AND CEP135 [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 | TOPBP1 | GO:0006974 | cellular response to DNA damage stimulus | 12773567 |
| Hgene | TOPBP1 | GO:0010212 | response to ionizing radiation | 12773567 |
| 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 | AA704218 | TOPBP1 | chr3 | 133364745 | + | CEP135 | chr4 | 56898345 | - |
| * 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-3UTR | ENST00000260810 | ENST00000257287 | TOPBP1 | chr3 | 133364745 | + | CEP135 | chr4 | 56898345 | - |
| intron-intron | ENST00000260810 | ENST00000422247 | TOPBP1 | chr3 | 133364745 | + | CEP135 | chr4 | 56898345 | - |
| intron-3UTR | ENST00000511439 | ENST00000257287 | TOPBP1 | chr3 | 133364745 | + | CEP135 | chr4 | 56898345 | - |
| intron-intron | ENST00000511439 | ENST00000422247 | TOPBP1 | chr3 | 133364745 | + | CEP135 | chr4 | 56898345 | - |
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FusionProtFeatures for TOPBP1_CEP135 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOPBP1 | CEP135 |
| Required for DNA replication. Plays a role in the rescueof stalled replication forks and checkpoint control. Binds double-stranded DNA breaks and nicks as well as single-stranded DNA.Recruits the SWI/SNF chromatin remodeling complex to E2F1-responsive promoters. Down-regulates E2F1 activity and inhibitsE2F1-dependent apoptosis during G1/S transition and after DNAdamage. Induces a large increase in the kinase activity of ATR(PubMed:16530042). {ECO:0000269|PubMed:10498869,ECO:0000269|PubMed:11395493, ECO:0000269|PubMed:11714696,ECO:0000269|PubMed:12697828, ECO:0000269|PubMed:15075294,ECO:0000269|PubMed:16530042}. | Involved in early centrioleassembly/duplication/biogenesis/formation/. Required for centrioleelongation. Required for the recruitment of CEP295 to the proximalend of new-born centrioles at the centriolar microtubule wallduring early S phase in a PLK4-dependent manner.{ECO:0000269|PubMed:27185865}. Centrosomal protein involved in centriole biogenesis.Acts as a scaffolding protein during early centriole biogenesis.Required for the targeting of centriole satellite proteins tocentrosomes such as of PCM1, SSX2IP and CEP290 and recruitment ofWRAP73 to centrioles. Also required for centriole-centriolecohesion during interphase by acting as a platform protein forCEP250 at the centriole. Required for the recruitment of CEP295 tothe proximal end of new-born centrioles at the centriolarmicrotubule wall during early S phase in a PLK4-dependent manner.Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early Sphase in a PLK4-dependent manner (PubMed:27185865).{ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:18851962,ECO:0000269|PubMed:26675238, ECO:0000269|PubMed:27185865}. |
| 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 TOPBP1_CEP135 |
| 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 TOPBP1_CEP135 |
| 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 TOPBP1_CEP135 |
| 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 TOPBP1_CEP135 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TOPBP1 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
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