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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:ABCB9-DDX17 (FusionGDB2 ID:223) |
Fusion Gene Summary for ABCB9-DDX17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABCB9-DDX17 | Fusion gene ID: 223 | Hgene | Tgene | Gene symbol | ABCB9 | DDX17 | Gene ID | 23457 | 10521 |
| Gene name | ATP binding cassette subfamily B member 9 | DEAD-box helicase 17 | |
| Synonyms | EST122234|TAPL | P72|RH70 | |
| Cytomap | 12q24.31 | 22q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-binding cassette sub-family B member 9ABC transporter 9 proteinATP-binding cassette, sub-family B (MDR/TAP), member 9TAP-like protein | probable ATP-dependent RNA helicase DDX17DEAD (Asp-Glu-Ala-Asp) box helicase 17DEAD (Asp-Glu-Ala-Asp) box polypeptide 17DEAD box protein p72DEAD box protein p82DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)RNA-dependent helicase p72 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q9NP78 | Q92841 | |
| Ensembl transtripts involved in fusion gene | ENST00000280560, ENST00000344275, ENST00000346530, ENST00000392439, ENST00000442028, ENST00000442833, ENST00000540285, ENST00000541983, ENST00000542678, | ENST00000396821, ENST00000381633, ENST00000444597, ENST00000432525, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 20 X 21 X 7=2940 |
| # samples | 4 | 25 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(25/2940*10)=-3.55581615506164 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ABCB9 [Title/Abstract] AND DDX17 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ABCB9(123465256)-DDX17(38884008), # samples:1 | ||
| 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 | ABCB9 | GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | 17977821 |
| Hgene | ABCB9 | GO:0015833 | peptide transport | 17977821|18434309|22641697 |
| Tgene | DDX17 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17226766 |
| Fusion gene breakpoints across ABCB9 (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 DDX17 (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 | STAD | TCGA-BR-A4PD-01A | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
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Fusion Gene ORF analysis for ABCB9-DDX17 |
| 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 |
| intron-3CDS | ENST00000280560 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000344275 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000346530 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000392439 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000442028 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000442833 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000540285 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000541983 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-3CDS | ENST00000542678 | ENST00000396821 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000280560 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000280560 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000344275 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000344275 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000346530 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000346530 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000392439 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000392439 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000442028 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000442028 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000442833 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000442833 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000540285 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000540285 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000541983 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000541983 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000542678 | ENST00000381633 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-5UTR | ENST00000542678 | ENST00000444597 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000280560 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000344275 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000346530 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000392439 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000442028 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000442833 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000540285 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000541983 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| intron-intron | ENST00000542678 | ENST00000432525 | ABCB9 | chr12 | 123465256 | - | DDX17 | chr22 | 38884008 | - |
| 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 ABCB9-DDX17 |
| 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 ABCB9-DDX17 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:123465256/:38884008) - 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 |
| ABCB9 | DDX17 |
| FUNCTION: ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored. {ECO:0000269|PubMed:15863492, ECO:0000269|PubMed:17977821, ECO:0000269|PubMed:18434309}. | FUNCTION: As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts (PubMed:12138182). This function requires the RNA helicase activity (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5 and histone macro-H2A.1/MACROH2A1 alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5, promotes the introduction of alternative exon 4, which contains 2 stop codons and may target NFAT5 exon 4-containing transcripts to nonsense-mediated mRNA decay, leading to the down-regulation of NFAT5 protein (PubMed:22266867). Affects splicing of mediators of steroid hormone signaling pathway, including kinases that phosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, and transcriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2. By affecting GSK3B splicing, participates in ESR1 and AR stabilization (PubMed:24275493). In myoblasts and epithelial cells, cooperates with HNRNPH1 to control the splicing of specific subsets of exons (PubMed:24910439). In addition to binding mature mRNAs, also interacts with certain pri-microRNAs, including MIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087 (PubMed:25126784). Binds pri-microRNAs on the 3' segment flanking the stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence (PubMed:24581491). Required for the production of subsets of microRNAs, including MIR21 and MIR125B1 (PubMed:24581491, PubMed:27478153). May be involved not only in microRNA primary transcript processing, but also stabilization (By similarity). Participates in MYC down-regulation at high cell density through the production of MYC-targeting microRNAs (PubMed:24581491). Along with DDX5, may be involved in the processing of the 32S intermediate into the mature 28S ribosomal RNA (PubMed:17485482). Promoter-specific transcription regulator, functioning as a coactivator or corepressor depending on the context of the promoter and the transcriptional complex in which it exists (PubMed:15298701). Enhances NFAT5 transcriptional activity (PubMed:22266867). Synergizes with TP53 in the activation of the MDM2 promoter; this activity requires acetylation on lysine residues (PubMed:17226766, PubMed:20663877, PubMed:19995069). May also coactivate MDM2 transcription through a TP53-independent pathway (PubMed:17226766). Coactivates MMP7 transcription (PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1 and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or in combination with DDX5 and/or SRA1 non-coding RNA, plays a critical role in promoting the assembly of proteins required for the formation of the transcription initiation complex and chromatin remodeling leading to coactivation of MYOD1-dependent transcription. This helicase-independent activity is required for skeletal muscle cells to properly differentiate into myotubes (PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptional activity, directly controlling key effectors of differentiation, including miRNAs which in turn directly repress its expression (PubMed:24910439). Plays a role in estrogen and testosterone signaling pathway at several levels. Mediates the use of alternative promoters in estrogen-responsive genes and regulates transcription and splicing of a large number of steroid hormone target genes (PubMed:24275493, PubMed:20406972, PubMed:20663877, PubMed:19995069). Contrary to splicing regulation activity, transcriptional coregulation of the estrogen receptor ESR1 is helicase-independent (PubMed:19718048, PubMed:24275493). Plays a role in innate immunity. Specifically restricts bunyavirus infection, including Rift Valley fever virus (RVFV) or La Crosse virus (LACV), but not vesicular stomatitis virus (VSV), in an interferon- and DROSHA-independent manner (PubMed:25126784). Binds to RVFV RNA, likely via structured viral RNA elements (PubMed:25126784). Promotes mRNA degradation mediated by the antiviral zinc-finger protein ZC3HAV1, in an ATPase-dependent manner (PubMed:18334637). {ECO:0000250|UniProtKB:Q501J6, ECO:0000269|PubMed:12138182, ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17226766, ECO:0000269|PubMed:17485482, ECO:0000269|PubMed:17699760, ECO:0000269|PubMed:18334637, ECO:0000269|PubMed:19718048, ECO:0000269|PubMed:19995069, ECO:0000269|PubMed:20406972, ECO:0000269|PubMed:20663877, ECO:0000269|PubMed:22266867, ECO:0000269|PubMed:23022728, ECO:0000269|PubMed:24275493, ECO:0000269|PubMed:24581491, ECO:0000269|PubMed:24910439, ECO:0000269|PubMed:25126784, ECO:0000269|PubMed:26209609, ECO:0000269|PubMed:27478153, ECO:0000305}. |
| 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 ABCB9-DDX17 |
| 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 ABCB9-DDX17 |
| 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 ABCB9-DDX17 |
| 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 ABCB9-DDX17 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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