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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:ENG-AK1 (FusionGDB2 ID:26562) |
Fusion Gene Summary for ENG-AK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ENG-AK1 | Fusion gene ID: 26562 | Hgene | Tgene | Gene symbol | ENG | AK1 | Gene ID | 2022 | 203 |
| Gene name | endoglin | adenylate kinase 1 | |
| Synonyms | END|HHT1|ORW1 | HTL-S-58j | |
| Cytomap | 9q34.11 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endoglinCD105 antigen | adenylate kinase isoenzyme 1ATP-AMP transphosphorylase 1ATP:AMP phosphotransferaseadenylate monophosphate kinaseepididymis secretory sperm binding proteinmyokinasetestis secretory sperm binding protein Li 58j | |
| Modification date | 20200329 | 20200320 | |
| UniProtAcc | P17813 | P00568 | |
| Ensembl transtripts involved in fusion gene | ENST00000344849, ENST00000373203, ENST00000480266, | ENST00000223836, ENST00000373156, ENST00000373176, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 3 X 2 X 3=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ENG [Title/Abstract] AND AK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ENG(130605373)-AK1(130630791), # samples:4 | ||
| 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 | ENG | GO:0001934 | positive regulation of protein phosphorylation | 12015308 |
| Hgene | ENG | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 12015308 |
| Hgene | ENG | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 15702480 |
| Hgene | ENG | GO:0030336 | negative regulation of cell migration | 19736306 |
| Hgene | ENG | GO:0030513 | positive regulation of BMP signaling pathway | 17068149 |
| Hgene | ENG | GO:0031953 | negative regulation of protein autophosphorylation | 12015308 |
| Tgene | AK1 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
| Tgene | AK1 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
| Fusion gene breakpoints across ENG (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across AK1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| 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 | BRCA | TCGA-B6-A0I6-01A | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| ChimerDB4 | GBM | TCGA-4W-AA9S-01A | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
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Fusion Gene ORF analysis for ENG-AK1 |
| 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 |
| In-frame | ENST00000344849 | ENST00000223836 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| In-frame | ENST00000344849 | ENST00000373156 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| In-frame | ENST00000344849 | ENST00000373176 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| In-frame | ENST00000373203 | ENST00000223836 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| In-frame | ENST00000373203 | ENST00000373156 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| In-frame | ENST00000373203 | ENST00000373176 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| intron-3CDS | ENST00000480266 | ENST00000223836 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| intron-3CDS | ENST00000480266 | ENST00000373156 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| intron-3CDS | ENST00000480266 | ENST00000373176 | ENG | chr9 | 130605373 | - | AK1 | chr9 | 130630791 | - |
| 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 ENG-AK1 |
| 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. |
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| 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 ENG-AK1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:130605373/chr9:130630791) - 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 |
| ENG | AK1 |
| FUNCTION: Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}. | FUNCTION: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. {ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111}. |
| 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 |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 26_46 | 73 | 626.0 | Region | OR1%2C N-terminal part |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 26_46 | 73 | 659.0 | Region | OR1%2C N-terminal part |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373156 | 4 | 7 | 131_141 | 108 | 195.0 | Region | LID | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373176 | 4 | 7 | 131_141 | 108 | 195.0 | Region | LID |
| - 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 |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 336_576 | 73 | 626.0 | Compositional bias | Note=Ser/Thr-rich |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 336_576 | 73 | 659.0 | Compositional bias | Note=Ser/Thr-rich |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 363_533 | 73 | 626.0 | Domain | ZP |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 363_533 | 73 | 659.0 | Domain | ZP |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 399_401 | 73 | 626.0 | Motif | Cell attachment site |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 399_401 | 73 | 659.0 | Motif | Cell attachment site |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 200_330 | 73 | 626.0 | Region | OR1%2C C-terminal part |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 47_199 | 73 | 626.0 | Region | OR2 |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 200_330 | 73 | 659.0 | Region | OR1%2C C-terminal part |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 47_199 | 73 | 659.0 | Region | OR2 |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 26_586 | 73 | 626.0 | Topological domain | Extracellular |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 612_658 | 73 | 626.0 | Topological domain | Cytoplasmic |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 26_586 | 73 | 659.0 | Topological domain | Extracellular |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 612_658 | 73 | 659.0 | Topological domain | Cytoplasmic |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000344849 | - | 2 | 14 | 587_611 | 73 | 626.0 | Transmembrane | Helical |
| Hgene | ENG | chr9:130605373 | chr9:130630791 | ENST00000373203 | - | 2 | 15 | 587_611 | 73 | 659.0 | Transmembrane | Helical |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373156 | 4 | 7 | 18_23 | 108 | 195.0 | Nucleotide binding | ATP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373156 | 4 | 7 | 65_67 | 108 | 195.0 | Nucleotide binding | AMP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373156 | 4 | 7 | 94_97 | 108 | 195.0 | Nucleotide binding | AMP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373176 | 4 | 7 | 18_23 | 108 | 195.0 | Nucleotide binding | ATP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373176 | 4 | 7 | 65_67 | 108 | 195.0 | Nucleotide binding | AMP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373176 | 4 | 7 | 94_97 | 108 | 195.0 | Nucleotide binding | AMP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373156 | 4 | 7 | 38_67 | 108 | 195.0 | Region | NMP | |
| Tgene | AK1 | chr9:130605373 | chr9:130630791 | ENST00000373176 | 4 | 7 | 38_67 | 108 | 195.0 | Region | NMP |
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Fusion Gene Sequence for ENG-AK1 |
| 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 ENG-AK1 |
| 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 ENG-AK1 |
| 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 ENG-AK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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