|
||||||
|
 | 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:DDX58-ACO1 (FusionGDB2 ID:HG23586TG48) |
Fusion Gene Summary for DDX58-ACO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDX58-ACO1 | Fusion gene ID: hg23586tg48 | Hgene | Tgene | Gene symbol | DDX58 | ACO1 | Gene ID | 23586 | 48 |
| Gene name | DExD/H-box helicase 58 | aconitase 1 | |
| Synonyms | RIG-I|RIG1|RIGI|RLR-1|SGMRT2 | ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1 | |
| Cytomap | ('DDX58')('ACO1') 9p21.1 | 9p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX58DEAD (Asp-Glu-Ala-Asp) box polypeptide 58DEAD box protein 58DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptideRNA helicase RIG-Iretinoic acid-inducible gene 1 proteinretinoic acid-inducible gene I protein | cytoplasmic aconitate hydrataseaconitase 1, solubleaconitate hydratase, cytoplasmiccitrate hydro-lyasecytoplasmic aconitasecytosplasmic aconitaseepididymis luminal protein 60epididymis secretory sperm binding proteinferritin repressor proteiniron | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | O95786 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000379868, ENST00000545044, ENST00000379882, ENST00000379883, ENST00000542096, | ||
| Fusion gene scores | * DoF score | 7 X 7 X 6=294 | 9 X 12 X 5=540 |
| # samples | 9 | 12 | |
| ** MAII score | log2(9/294*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DDX58 [Title/Abstract] AND ACO1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DDX58(32493758)-ACO1(32418125), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DDX58-ACO1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. DDX58-ACO1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. DDX58-ACO1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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 |
| Hgene | DDX58 | GO:0009597 | detection of virus | 17079289 |
| Hgene | DDX58 | GO:0010628 | positive regulation of gene expression | 24409285 |
| Hgene | DDX58 | GO:0030334 | regulation of cell migration | 19122199 |
| Hgene | DDX58 | GO:0032725 | positive regulation of granulocyte macrophage colony-stimulating factor production | 24409285 |
| Hgene | DDX58 | GO:0032727 | positive regulation of interferon-alpha production | 19576794 |
| Hgene | DDX58 | GO:0032728 | positive regulation of interferon-beta production | 17079289 |
| Hgene | DDX58 | GO:0032755 | positive regulation of interleukin-6 production | 24409285 |
| Hgene | DDX58 | GO:0032757 | positive regulation of interleukin-8 production | 24409285 |
| Hgene | DDX58 | GO:0039529 | RIG-I signaling pathway | 28469175 |
| Hgene | DDX58 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17079289 |
| Hgene | DDX58 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 17079289 |
| Hgene | DDX58 | GO:0051607 | defense response to virus | 21478870 |
| Tgene | ACO1 | GO:0006101 | citrate metabolic process | 8041788|16527810 |
| Tgene | ACO1 | GO:0010040 | response to iron(II) ion | 8041788 |
| Fusion gene information * 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 | STAD | TCGA-HU-A4H5 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
Top |
Fusion Gene ORF analysis for DDX58-ACO1 |
| 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 | ENST00000379868 | ENST00000309951 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 5UTR-3CDS | ENST00000379868 | ENST00000379923 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 5UTR-3CDS | ENST00000379868 | ENST00000541043 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 5UTR-3CDS | ENST00000545044 | ENST00000309951 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 5UTR-3CDS | ENST00000545044 | ENST00000379923 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 5UTR-3CDS | ENST00000545044 | ENST00000541043 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379882 | ENST00000309951 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379882 | ENST00000379923 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379882 | ENST00000541043 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379883 | ENST00000309951 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379883 | ENST00000379923 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000379883 | ENST00000541043 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000542096 | ENST00000309951 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000542096 | ENST00000379923 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| Frame-shift | ENST00000542096 | ENST00000541043 | DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + |
| 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 |
Top |
Fusion Genomic Features for DDX58-ACO1 |
| 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) |
| DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + | 0.000697063 | 0.999303 |
| DDX58 | chr9 | 32493758 | - | ACO1 | chr9 | 32418125 | + | 0.000697063 | 0.999303 |
| 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. |
 |
Top |
Fusion Protein Features for DDX58-ACO1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:32493758/:32418125) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDX58 | . |
| FUNCTION: Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and proinflammatory cytokines. Forms a ribonucleoprotein complex with viral RNAs on which it homooligomerizes to form filaments. The homooligomerization allows the recruitment of RNF135 an E3 ubiquitin-protein ligase that activates and amplifies the RIG-I-mediated antiviral signaling in an RNA length-dependent manner through ubiquitination-dependent and -independent mechanisms (PubMed:28469175, PubMed:31006531). Upon activation, associates with mitochondria antiviral signaling protein (MAVS/IPS1) that activates the IKK-related kinases TBK1 and IKBKE which in turn phosphorylate the interferon regulatory factors IRF3 and IRF7, activating transcription of antiviral immunological genes including the IFN-alpha and IFN-beta interferons (PubMed:28469175, PubMed:31006531). Ligands include 5'-triphosphorylated ssRNAs and dsRNAs but also short dsRNAs (<1 kb in length). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotaviruses and reoviruses. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration. {ECO:0000269|PubMed:15208624, ECO:0000269|PubMed:15708988, ECO:0000269|PubMed:16125763, ECO:0000269|PubMed:16127453, ECO:0000269|PubMed:16153868, ECO:0000269|PubMed:17190814, ECO:0000269|PubMed:18636086, ECO:0000269|PubMed:19122199, ECO:0000269|PubMed:19211564, ECO:0000269|PubMed:19576794, ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:21742966, ECO:0000269|PubMed:28469175, ECO:0000269|PubMed:29117565, ECO:0000269|PubMed:31006531}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 |
Top |
Fusion Gene Sequence for DDX58-ACO1 |
| 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. |
Top |
Fusion Gene PPI Analysis for DDX58-ACO1 |
| 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 |
Top |
Related Drugs for DDX58-ACO1 |
| 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 |
Top |
Related Diseases for DDX58-ACO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DDX58 | C0019196 | Hepatitis C | 1 | CTD_human |
| Hgene | DDX58 | C0021400 | Influenza | 1 | CTD_human |
| Hgene | DDX58 | C0030246 | Pustulosis of Palms and Soles | 1 | CTD_human |
| Hgene | DDX58 | C0033860 | Psoriasis | 1 | CTD_human |
| Hgene | DDX58 | C0235874 | Disease Exacerbation | 1 | CTD_human |
| Hgene | DDX58 | C0432254 | Singleton Merten syndrome | 1 | ORPHANET |
| Hgene | DDX58 | C4225380 | SINGLETON-MERTEN SYNDROME 2 | 1 | UNIPROT |
| Hgene | DDX58 | C4225427 | SINGLETON-MERTEN SYNDROME 1 | 1 | GENOMICS_ENGLAND |
| Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
| Tgene | C0029408 | Degenerative polyarthritis | 1 | CTD_human | |
| Tgene | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies