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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:ETV6-ARNT (FusionGDB2 ID:27704) |
Fusion Gene Summary for ETV6-ARNT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6-ARNT | Fusion gene ID: 27704 | Hgene | Tgene | Gene symbol | ETV6 | ARNT | Gene ID | 2120 | 375056 |
| Gene name | ETS variant transcription factor 6 | MIA SH3 domain ER export factor 3 | |
| Synonyms | TEL|TEL/ABL|THC5 | ARNT|D320|TANGO|TANGO1|UNQ6077 | |
| Cytomap | 12p13.2 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | transport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P41212 | Q8WYA1 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000468970, ENST00000354396, ENST00000358595, ENST00000505755, ENST00000515192, | |
| Fusion gene scores | * DoF score | 59 X 37 X 25=54575 | 9 X 6 X 6=324 |
| # samples | 58 | 9 | |
| ** MAII score | log2(58/54575*10)=-6.55604351475058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ETV6 [Title/Abstract] AND ARNT [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | |||
| Anticipated loss of major functional domain due to fusion event. | ARNT-ETV6 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ARNT-ETV6 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. ARNT-ETV6 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ARNT-ETV6 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. ARNT-ETV6 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. ETV6-ARNT seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ETV6-ARNT seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. ETV6-ARNT seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. ETV6-ARNT seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ETV6-ARNT seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. | ||
| * 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 | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
| Tgene | ARNT | GO:0002687 | positive regulation of leukocyte migration | 17726152 |
| Tgene | ARNT | GO:0007162 | negative regulation of cell adhesion | 17726152 |
| Tgene | ARNT | GO:0030336 | negative regulation of cell migration | 17044017 |
| Tgene | ARNT | GO:0042060 | wound healing | 17044017 |
| Fusion gene breakpoints across ETV6 (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 ARNT (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 |
| ChimerKB3 | . | . | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
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Fusion Gene ORF analysis for ETV6-ARNT |
| 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 |
| 5CDS-intron | ENST00000396373 | ENST00000468970 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| Frame-shift | ENST00000396373 | ENST00000354396 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| Frame-shift | ENST00000396373 | ENST00000358595 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| Frame-shift | ENST00000396373 | ENST00000505755 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| Frame-shift | ENST00000396373 | ENST00000515192 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| intron-3CDS | ENST00000544715 | ENST00000354396 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| intron-3CDS | ENST00000544715 | ENST00000358595 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| intron-3CDS | ENST00000544715 | ENST00000505755 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| intron-3CDS | ENST00000544715 | ENST00000515192 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| intron-intron | ENST00000544715 | ENST00000468970 | ETV6 | chr12 | 12006495 | + | ARNT | chr1 | 150789678 | - |
| 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 ETV6-ARNT |
| 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) |
| 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 ETV6-ARNT |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - 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 |
| ETV6 | ARNT |
| FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}. | FUNCTION: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. {ECO:0000269|PubMed:11018023, ECO:0000269|PubMed:12738229, ECO:0000269|PubMed:14672706}. |
| 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 ETV6-ARNT |
| 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 ETV6-ARNT |
| 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 ETV6-ARNT |
| 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 ETV6-ARNT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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