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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:HIVEP3-DOT1L (FusionGDB2 ID:36554) |
Fusion Gene Summary for HIVEP3-DOT1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIVEP3-DOT1L | Fusion gene ID: 36554 | Hgene | Tgene | Gene symbol | HIVEP3 | DOT1L | Gene ID | 59269 | 84444 |
| Gene name | HIVEP zinc finger 3 | DOT1 like histone lysine methyltransferase | |
| Synonyms | KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C | DOT1|KMT4 | |
| Cytomap | 1p34.2 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor HIVEP3ZAS family, member 3human immunodeficiency virus type I enhancer binding protein 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3 | histone-lysine N-methyltransferase, H3 lysine-79 specificDOT1 like histone H3K79 methyltransferaseDOT1-like histone methyltransferaseDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyl | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q5T1R4 | Q8TEK3 | |
| Ensembl transtripts involved in fusion gene | ENST00000247584, ENST00000372583, ENST00000372584, ENST00000429157, ENST00000460604, | ENST00000398665, ENST00000608122, | |
| Fusion gene scores | * DoF score | 21 X 18 X 10=3780 | 9 X 9 X 8=648 |
| # samples | 25 | 10 | |
| ** MAII score | log2(25/3780*10)=-3.91838623444635 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/648*10)=-2.6959938131099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HIVEP3 [Title/Abstract] AND DOT1L [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HIVEP3(42094420)-DOT1L(2180712), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | HIVEP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
| Tgene | DOT1L | GO:0008284 | positive regulation of cell proliferation | 15851025 |
| Tgene | DOT1L | GO:0034729 | histone H3-K79 methylation | 15851025 |
| Tgene | DOT1L | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15851025 |
| Tgene | DOT1L | GO:0046425 | regulation of JAK-STAT cascade | 22002246 |
| Fusion gene breakpoints across HIVEP3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across DOT1L (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | SKCM | TCGA-EB-A42Z-01A | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
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Fusion Gene ORF analysis for HIVEP3-DOT1L |
| 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 |
| 5UTR-3CDS | ENST00000247584 | ENST00000398665 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-3CDS | ENST00000372583 | ENST00000398665 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-3CDS | ENST00000372584 | ENST00000398665 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-3CDS | ENST00000429157 | ENST00000398665 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-intron | ENST00000247584 | ENST00000608122 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-intron | ENST00000372583 | ENST00000608122 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-intron | ENST00000372584 | ENST00000608122 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| 5UTR-intron | ENST00000429157 | ENST00000608122 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| intron-3CDS | ENST00000460604 | ENST00000398665 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| intron-intron | ENST00000460604 | ENST00000608122 | HIVEP3 | chr1 | 42094420 | - | DOT1L | chr19 | 2180712 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for HIVEP3-DOT1L |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| HIVEP3 | chr1 | 42094419 | - | DOT1L | chr19 | 2180711 | + | 0.00068352 | 0.99931645 |
| HIVEP3 | chr1 | 42094419 | - | DOT1L | chr19 | 2180711 | + | 0.00068352 | 0.99931645 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for HIVEP3-DOT1L |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:42094420/:2180712) - 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 |
| HIVEP3 | DOT1L |
| FUNCTION: Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-alpha-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and proinflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation. {ECO:0000269|PubMed:11161801}. | FUNCTION: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190). {ECO:0000269|PubMed:12123582, ECO:0000269|PubMed:12628190}. |
| 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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Fusion Gene Sequence for HIVEP3-DOT1L |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for HIVEP3-DOT1L |
| 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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Related Drugs for HIVEP3-DOT1L |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for HIVEP3-DOT1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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