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Fusion gene ID: 39105 |
FusionGeneSummary for TOPORS_ADAMTSL1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TOPORS_ADAMTSL1 | Fusion gene ID: 39105 | Hgene | Tgene | Gene symbol | TOPORS | ADAMTSL1 | Gene ID | 10210 | 92949 |
Gene name | TOP1 binding arginine/serine rich protein | ADAMTS like 1 | |
Synonyms | LUN|P53BP3|RP31|TP53BPL | ADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN | |
Cytomap | 9p21.1 | 9p22.2-p22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 ubiquitin-protein ligase ToporsRING-type E3 ubiquitin transferase ToporsSUMO1-protein E3 ligase Toporstopoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligasetopoisomerase I-binding RING finger proteintumor suppressor p53-binding | ADAMTS-like protein 1ADAM-TS related protein 1punctin-1 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q9NS56 | Q8N6G6 | |
Ensembl transtripts involved in fusion gene | ENST00000360538, ENST00000379858, | ENST00000380548, ENST00000380545, ENST00000327883, ENST00000431052, ENST00000380570, ENST00000380566, ENST00000276935, ENST00000496521, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 1=4 |
# samples | 3 | 2 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: TOPORS [Title/Abstract] AND ADAMTSL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 | TOPORS | GO:0000209 | protein polyubiquitination | 15247280 |
Hgene | TOPORS | GO:0006513 | protein monoubiquitination | 15247280 |
Hgene | TOPORS | GO:0006974 | cellular response to DNA damage stimulus | 15735665 |
Hgene | TOPORS | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 20188669 |
Hgene | TOPORS | GO:0016925 | protein sumoylation | 17803295 |
Hgene | TOPORS | GO:0051443 | positive regulation of ubiquitin-protein transferase activity | 15247280 |
Hgene | TOPORS | GO:0051457 | maintenance of protein location in nucleus | 14516784 |
Hgene | TOPORS | GO:0070936 | protein K48-linked ubiquitination | 15247280 |
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 |
TCGA | RV | LGG | TCGA-IK-7675-01A | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
* 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 |
Frame-shift | ENST00000360538 | ENST00000380548 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
Frame-shift | ENST00000360538 | ENST00000380545 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000327883 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000431052 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000380570 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000380566 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000276935 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
5CDS-intron | ENST00000360538 | ENST00000496521 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-3CDS | ENST00000379858 | ENST00000380548 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-3CDS | ENST00000379858 | ENST00000380545 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000327883 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000431052 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000380570 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000380566 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000276935 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
intron-intron | ENST00000379858 | ENST00000496521 | TOPORS | chr9 | 32550772 | - | ADAMTSL1 | chr9 | 18826282 | + |
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FusionProtFeatures for TOPORS_ADAMTSL1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TOPORS | ADAMTSL1 |
Functions as an E3 ubiquitin-protein ligase and as an E3SUMO1-protein ligase. Probable tumor suppressor involved in cellgrowth, cell proliferation and apoptosis that regulates p53/TP53stability through ubiquitin-dependent degradation. May regulatechromatin modification through sumoylation of several chromatinmodification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation.{ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15735665,ECO:0000269|PubMed:16122737, ECO:0000269|PubMed:17803295,ECO:0000269|PubMed:18077445, ECO:0000269|PubMed:19473992,ECO:0000269|PubMed:20188669}. |
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 TOPORS_ADAMTSL1 |
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 TOPORS_ADAMTSL1 |
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 |
TOPORS | UBE2I, SUMO1, TOP1, TP53, UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2J1, UBE2L6, UBE2N, UBE2W, HABP4, GTF2I, NONO, SFPQ, SIN3A, PARP1, SAFB2, DDB2, RBBP7, TRIM28, RBBP4, SMARCC2, DHX15, HNRNPL, RANGAP1, UPF3A, HNRNPM, HNRNPA1, SF3B1, EEF1A1, S100A9, SATB1, PLK1, NKX3-1, UBXN7, IKBKE, PML, SERBP1, CASP8, H2AFX, UBE2E1, SUMO2, MTDH, UBC, SPIN2B, SPIN1, NIFK, EPM2A, PSMC1, LLGL2, ZC3H18, UBE2E3, ZNF786, ZNF214, ZNF324B, ZNF263, ZNF816, NKAP, PNN, CLK3 | ADAMTSL1 | B3GALTL, FHL2, RSPRY1, C2orf44, ACOX1, FBN2, GRN |
- 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 TOPORS_ADAMTSL1 |
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 TOPORS_ADAMTSL1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TOPORS | C0029463 | Osteosarcoma | 1 | CTD_human |