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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:ENO3-ASXL2 (FusionGDB2 ID:HG2027TG55252) |
Fusion Gene Summary for ENO3-ASXL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ENO3-ASXL2 | Fusion gene ID: hg2027tg55252 | Hgene | Tgene | Gene symbol | ENO3 | ASXL2 | Gene ID | 2027 | 55252 |
| Gene name | enolase 3 | ASXL transcriptional regulator 2 | |
| Synonyms | GSD13|MSE | ASXH2|SHAPNS | |
| Cytomap | ('ENO3')('ASXL2') 17p13.2 | 2p23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | beta-enolase2-phospho-D-glycerate hydrolyaseenolase 3 (beta, muscle)muscle enriched enolasemuscle-specific enolaseskeletal muscle enolase | putative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P13929 | Q76L83 | |
| Ensembl transtripts involved in fusion gene | ENST00000323997, ENST00000518175, ENST00000519584, | ||
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 11 X 14 X 8=1232 |
| # samples | 3 | 16 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ENO3 [Title/Abstract] AND ASXL2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ENO3(4859438)-ASXL2(26068432), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ENO3-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ENO3-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ENO3-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. ENO3-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 |
| Tgene | ASXL2 | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway | 21047783 |
| Tgene | ASXL2 | GO:0045600 | positive regulation of fat cell differentiation | 21047783 |
| Tgene | ASXL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21047783 |
| 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 | Non-Cancer | SPNT_244 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
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Fusion Gene ORF analysis for ENO3-ASXL2 |
| 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-5UTR | ENST00000323997 | ENST00000272341 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-5UTR | ENST00000323997 | ENST00000336112 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-5UTR | ENST00000518175 | ENST00000272341 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-5UTR | ENST00000518175 | ENST00000336112 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-5UTR | ENST00000519584 | ENST00000272341 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-5UTR | ENST00000519584 | ENST00000336112 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000323997 | ENST00000404843 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000323997 | ENST00000497092 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000518175 | ENST00000404843 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000518175 | ENST00000497092 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000519584 | ENST00000404843 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 5CDS-intron | ENST00000519584 | ENST00000497092 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| Frame-shift | ENST00000323997 | ENST00000435504 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| Frame-shift | ENST00000518175 | ENST00000435504 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| Frame-shift | ENST00000519584 | ENST00000435504 | ENO3 | chr17 | 4859438 | + | ASXL2 | chr2 | 26068432 | - |
| 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 ENO3-ASXL2 |
| 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) |
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Fusion Protein Features for ENO3-ASXL2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:4859438/:26068432) - 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 |
| ENO3 | ASXL2 |
| FUNCTION: Appears to have a function in striated muscle development and regeneration. | FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}. |
| 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 ENO3-ASXL2 |
| 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 ENO3-ASXL2 |
| 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 ENO3-ASXL2 |
| 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 ENO3-ASXL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ENO3 | C2752027 | Glycogen Storage Disease XIII | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | ENO3 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | ENO3 | C0086565 | Liver Dysfunction | 1 | CTD_human |
| Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human | |
| Tgene | C0005695 | Bladder Neoplasm | 1 | CTD_human | |
| Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
| Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
| Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human | |
| Tgene | C4310672 | SHASHI-PENA SYNDROME | 1 | GENOMICS_ENGLAND |
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