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Fusion gene ID: 9561 |
FusionGeneSummary for DDX17_DSP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDX17_DSP | Fusion gene ID: 9561 | Hgene | Tgene | Gene symbol | DDX17 | DSP | Gene ID | 10521 | 1832 |
| Gene name | DEAD-box helicase 17 | desmoplakin | |
| Synonyms | P72|RH70 | DCWHKTA|DP | |
| Cytomap | 22q13.1 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q92841 | P15924 | |
| Ensembl transtripts involved in fusion gene | ENST00000396821, ENST00000444597, ENST00000381633, ENST00000432525, | ENST00000379802, ENST00000418664, | |
| Fusion gene scores | * DoF score | 10 X 11 X 6=660 | 17 X 15 X 8=2040 |
| # samples | 12 | 22 | |
| ** MAII score | log2(12/660*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2040*10)=-3.2129937233342 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DDX17 [Title/Abstract] AND DSP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | DDX17 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17226766 |
| Tgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF933159 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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-3UTR | ENST00000396821 | ENST00000379802 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000396821 | ENST00000418664 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000444597 | ENST00000379802 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000444597 | ENST00000418664 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000381633 | ENST00000379802 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000381633 | ENST00000418664 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000432525 | ENST00000379802 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
| intron-3UTR | ENST00000432525 | ENST00000418664 | DDX17 | chr22 | 38879665 | - | DSP | chr6 | 7586498 | + |
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FusionProtFeatures for DDX17_DSP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DDX17 | DSP |
| As an RNA helicase, unwinds RNA and alters RNAstructures through ATP binding and hydrolysis. Involved inmultiple cellular processes, including pre-mRNA splicing,alternative splicing, ribosomal RNA processing and miRNAprocessing, as well as transcription regulation. Regulates thealternative splicing of exons exhibiting specific features(PubMed:12138182, PubMed:23022728, PubMed:24910439,PubMed:22266867). For instance, promotes the inclusion of AC-richalternative exons in CD44 transcripts (PubMed:12138182). Thisfunction requires the RNA helicase activity (PubMed:12138182,PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5and histone macro-H2A.1/H2AFY alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5,promotes the introduction of alternative exon 4, which contains 2stop codons and may target NFAT5 exon 4-containing transcripts tononsense-mediated mRNA decay, leading to the down-regulation ofNFAT5 protein (PubMed:22266867). Affects splicing of mediators ofsteroid hormone signaling pathway, including kinases thatphosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, andtranscriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2.By affecting GSK3B splicing, participates in ESR1 and ARstabilization (PubMed:24275493). In myoblasts and epithelialcells, cooperates with HNRNPH1 to control the splicing of specificsubsets of exons (PubMed:24910439). In addition to binding maturemRNAs, also interacts with certain pri-microRNAs, includingMIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087(PubMed:25126784). Binds pri-microRNAs on the 3' segment flankingthe stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence(PubMed:24581491). Required for the production of subsets ofmicroRNAs, including MIR21 and MIR125B1 (PubMed:24581491,PubMed:27478153). May be involved not only in microRNA primarytranscript processing, but also stabilization (By similarity).Participates in MYC down-regulation at high cell density throughthe production of MYC-targeting microRNAs (PubMed:24581491). Alongwith DDX5, may be involved in the processing of the 32Sintermediate into the mature 28S ribosomal RNA (PubMed:17485482).Promoter-specific transcription regulator, functioning as acoactivator or corepressor depending on the context of thepromoter and the transcriptional complex in which it exists(PubMed:15298701). Enhances NFAT5 transcriptional activity(PubMed:22266867). Synergizes with TP53 in the activation of theMDM2 promoter; this activity requires acetylation on lysineresidues (PubMed:17226766, PubMed:20663877, PubMed:19995069). Mayalso coactivate MDM2 transcription through a TP53-independentpathway (PubMed:17226766). Coactivates MMP7 transcription(PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or incombination with DDX5 and/or SRA1 non-coding RNA, plays a criticalrole in promoting the assembly of proteins required for theformation of the transcription initiation complex and chromatinremodeling leading to coactivation of MYOD1-dependenttranscription. This helicase-independent activity is required forskeletal muscle cells to properly differentiate into myotubes(PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptionalactivity, directly controlling key effectors of differentiation,including miRNAs which in turn directly repress its expression(PubMed:24910439). Plays a role in estrogen and testosteronesignaling pathway at several levels. Mediates the use ofalternative promoters in estrogen-responsive genes and regulatestranscription and splicing of a large number of steroid hormonetarget genes (PubMed:24275493, PubMed:20406972, PubMed:20663877,PubMed:19995069). Contrary to splicing regulation activity,transcriptional coregulation of the estrogen receptor ESR1 ishelicase-independent (PubMed:19718048, PubMed:24275493). Plays arole in innate immunity. Specifically restricts bunyavirusinfection, including Rift Valley fever virus (RVFV) or La Crossevirus (LACV), but not vesicular stomatitis virus (VSV), in aninterferon- and DROSHA-independent manner (PubMed:25126784). Bindsto RVFV RNA, likely via structured viral RNA elements(PubMed:25126784). Promotes mRNA degradation mediated by theantiviral zinc-finger protein ZC3HAV1, in an ATPase-dependentmanner (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}. | Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes. |
| 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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FusionGeneSequence for DDX17_DSP |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for DDX17_DSP |
| 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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RelatedDrugs for DDX17_DSP |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | DSP | P15924 | DB01593 | Zinc | Desmoplakin | small molecule | approved|investigational |
| Tgene | DSP | P15924 | DB11638 | Artenimol | Desmoplakin | small molecule | approved|investigational |
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RelatedDiseases for DDX17_DSP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 3 | CTD_human;UNIPROT |
| Tgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 2 | UNIPROT |
| Tgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
| Tgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Tgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 1 | CTD_human;ORPHANET |
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