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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:DDX60L-DSCAM (FusionGDB2 ID:HG91351TG1826) |
Fusion Gene Summary for DDX60L-DSCAM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DDX60L-DSCAM | Fusion gene ID: hg91351tg1826 | Hgene | Tgene | Gene symbol | DDX60L | DSCAM | Gene ID | 91351 | 1826 |
| Gene name | DExD/H-box 60 like | DS cell adhesion molecule | |
| Synonyms | - | CHD2|CHD2-42|CHD2-52 | |
| Cytomap | ('DDX60L')('DSCAM') 4q32.3 | 21q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX60-likeDEAD (Asp-Glu-Ala-Asp) box polypeptide 60-likeDEAD box protein 60-likeDEAD-box helicase 60 likeputative ATP-dependent RNA helicase DDX60 | Down syndrome cell adhesion molecule | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q5H9U9 | O60469 | |
| Ensembl transtripts involved in fusion gene | ENST00000260184, ENST00000505890, ENST00000511577, ENST00000515088, | ||
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 13 X 11 X 6=858 |
| # samples | 5 | 15 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/858*10)=-2.51601514700366 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DDX60L [Title/Abstract] AND DSCAM [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DDX60L(169374275)-DSCAM(41559914), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | DDX60L-DSCAM 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 | DSCAM | GO:0042327 | positive regulation of phosphorylation | 19196994 |
| Tgene | DSCAM | GO:0048842 | positive regulation of axon extension involved in axon guidance | 18585357 |
| 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 | OV | TCGA-36-1574-01A | DDX60L | chr4 | 169374275 | - | DSCAM | chr21 | 41559914 | - |
| ChimerDB4 | OV | TCGA-36-1574 | DDX60L | chr4 | 169374274 | - | DSCAM | chr21 | 41559914 | - |
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Fusion Gene ORF analysis for DDX60L-DSCAM |
| 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 |
| Frame-shift | ENST00000260184 | ENST00000400454 | DDX60L | chr4 | 169374275 | - | DSCAM | chr21 | 41559914 | - |
| Frame-shift | ENST00000260184 | ENST00000400454 | DDX60L | chr4 | 169374274 | - | DSCAM | chr21 | 41559914 | - |
| Frame-shift | ENST00000505890 | ENST00000400454 | DDX60L | chr4 | 169374275 | - | DSCAM | chr21 | 41559914 | - |
| Frame-shift | ENST00000505890 | ENST00000400454 | DDX60L | chr4 | 169374274 | - | DSCAM | chr21 | 41559914 | - |
| Frame-shift | ENST00000511577 | ENST00000400454 | DDX60L | chr4 | 169374275 | - | DSCAM | chr21 | 41559914 | - |
| Frame-shift | ENST00000511577 | ENST00000400454 | DDX60L | chr4 | 169374274 | - | DSCAM | chr21 | 41559914 | - |
| intron-3CDS | ENST00000515088 | ENST00000400454 | DDX60L | chr4 | 169374275 | - | DSCAM | chr21 | 41559914 | - |
| intron-3CDS | ENST00000515088 | ENST00000400454 | DDX60L | chr4 | 169374274 | - | DSCAM | chr21 | 41559914 | - |
| 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 DDX60L-DSCAM |
| 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 DDX60L-DSCAM |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:169374275/:41559914) - 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 |
| DDX60L | DSCAM |
| FUNCTION: Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity). {ECO:0000250|UniProtKB:F1NY98, ECO:0000250|UniProtKB:Q9ERC8, ECO:0000269|PubMed:10925149, ECO:0000269|PubMed:15169762, ECO:0000269|PubMed:18585357, ECO:0000269|PubMed:19196994}. |
| 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 DDX60L-DSCAM |
| 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 DDX60L-DSCAM |
| 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 DDX60L-DSCAM |
| 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 DDX60L-DSCAM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
| Tgene | C0013146 | Drug abuse | 1 | CTD_human | |
| Tgene | C0013170 | Drug habituation | 1 | CTD_human | |
| Tgene | C0013222 | Drug Use Disorders | 1 | CTD_human | |
| Tgene | C0019209 | Hepatomegaly | 1 | CTD_human | |
| Tgene | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human | |
| Tgene | C0038580 | Substance Dependence | 1 | CTD_human | |
| Tgene | C0038586 | Substance Use Disorders | 1 | CTD_human | |
| Tgene | C0236969 | Substance-Related Disorders | 1 | CTD_human | |
| Tgene | C0740858 | Substance abuse problem | 1 | CTD_human | |
| Tgene | C1510472 | Drug Dependence | 1 | CTD_human | |
| Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
| Tgene | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
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