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Fusion gene ID: 39074 |
FusionGeneSummary for TOP1MT_SND1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TOP1MT_SND1 | Fusion gene ID: 39074 | Hgene | Tgene | Gene symbol | TOP1MT | SND1 | Gene ID | 116447 | 27044 |
| Gene name | DNA topoisomerase I mitochondrial | staphylococcal nuclease and tudor domain containing 1 | |
| Synonyms | - | TDRD11|Tudor-SN|p100 | |
| Cytomap | 8q24.3 | 7q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA topoisomerase I, mitochondrialmitochondrial topoisomerase IBtopoisomerase (DNA) I, mitochondrial | staphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q969P6 | Q7KZF4 | |
| Ensembl transtripts involved in fusion gene | ENST00000521193, ENST00000519148, ENST00000505857, ENST00000329245, ENST00000523676, | ENST00000354725, ENST00000467238, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 20 X 15 X 10=3000 |
| # samples | 1 | 21 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(21/3000*10)=-3.83650126771712 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TOP1MT [Title/Abstract] AND SND1 [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 |
| 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 | AW861197 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| * 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-intron | ENST00000521193 | ENST00000354725 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000521193 | ENST00000467238 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000519148 | ENST00000354725 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000519148 | ENST00000467238 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000505857 | ENST00000354725 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000505857 | ENST00000467238 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000329245 | ENST00000354725 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000329245 | ENST00000467238 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000523676 | ENST00000354725 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
| intron-intron | ENST00000523676 | ENST00000467238 | TOP1MT | chr8 | 144392312 | + | SND1 | chr7 | 127507030 | + |
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FusionProtFeatures for TOP1MT_SND1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOP1MT | SND1 |
| Releases the supercoiling and torsional tension of DNAintroduced during duplication of mitochondrial DNA by transientlycleaving and rejoining one strand of the DNA duplex. Introduces asingle-strand break via transesterification at a target site induplex DNA. The scissile phosphodiester is attacked by thecatalytic tyrosine of the enzyme, resulting in the formation of aDNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a5'-OH DNA strand. The free DNA strand then rotates around theintact phosphodiester bond on the opposing strand, thus removingDNA supercoils. Finally, in the religation step, the DNA 5'-OHattacks the covalent intermediate to expel the active-sitetyrosine and restore the DNA phosphodiester backbone (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:11526219}. | Functions as a bridging factor between STAT6 and thebasal transcription factor. Plays a role in PIM1 regulation of MYBactivity. Functions as a transcriptional coactivator for theEpstein-Barr virus nuclear antigen 2 (EBNA2).{ECO:0000269|PubMed:7651391}. |
| 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 TOP1MT_SND1 |
| 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 TOP1MT_SND1 |
| 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 TOP1MT_SND1 |
| 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 |
| Hgene | TOP1MT | Q969P6 | DB00762 | Irinotecan | DNA topoisomerase I, mitochondrial | small molecule | approved|investigational |
| Hgene | TOP1MT | Q969P6 | DB01030 | Topotecan | DNA topoisomerase I, mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for TOP1MT_SND1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SND1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | SND1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
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