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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:FRK-DTNBP1 (FusionGDB2 ID:31311) |
Fusion Gene Summary for FRK-DTNBP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FRK-DTNBP1 | Fusion gene ID: 31311 | Hgene | Tgene | Gene symbol | FRK | DTNBP1 | Gene ID | 2444 | 84062 |
| Gene name | fyn related Src family tyrosine kinase | dystrobrevin binding protein 1 | |
| Synonyms | GTK|PTK5|RAK | BLOC1S8|DBND|HPS7|My031|SDY | |
| Cytomap | 6q22.1 | 6p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase FRKPTK5 protein tyrosine kinase 5fyn-related kinasenuclear tyrosine protein kinase RAKprotein-tyrosine kinase 5 | dysbindinBLOC-1 subunit 8Hermansky-Pudlak syndrome 7 proteinbiogenesis of lysosomal organelles complex-1, subunit 8biogenesis of lysosome-related organelles complex 1 subunit 8dysbindin-1 | |
| Modification date | 20200315 | 20200313 | |
| UniProtAcc | P42685 | Q96EV8 | |
| Ensembl transtripts involved in fusion gene | ENST00000606080, ENST00000538210, | ENST00000338950, ENST00000344537, ENST00000355917, ENST00000462989, | |
| Fusion gene scores | * DoF score | 6 X 7 X 6=252 | 15 X 8 X 9=1080 |
| # samples | 8 | 17 | |
| ** MAII score | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/1080*10)=-2.66742466091313 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FRK [Title/Abstract] AND DTNBP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | FRK(116381131)-DTNBP1(15533626), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | FRK-DTNBP1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. FRK-DTNBP1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. FRK-DTNBP1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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 | FRK | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12837246 |
| Tgene | DTNBP1 | GO:0031175 | neuron projection development | 16980328 |
| Fusion gene breakpoints across FRK (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 DTNBP1 (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 | BRCA | TCGA-AQ-A1H2-01A | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| ChimerDB4 | BRCA | TCGA-AQ-A1H2 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
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Fusion Gene ORF analysis for FRK-DTNBP1 |
| 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 | ENST00000606080 | ENST00000338950 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000338950 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000344537 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000344537 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000355917 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000355917 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000462989 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| Frame-shift | ENST00000606080 | ENST00000462989 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000338950 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000338950 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000344537 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000344537 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000355917 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000355917 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000462989 | FRK | chr6 | 116381131 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000538210 | ENST00000462989 | FRK | chr6 | 116381130 | - | DTNBP1 | chr6 | 15533626 | - |
| 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 FRK-DTNBP1 |
| 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 FRK-DTNBP1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:116381131/:15533626) - 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 |
| FRK | DTNBP1 |
| FUNCTION: Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor. {ECO:0000269|PubMed:19345329}. | FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}. |
| 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 FRK-DTNBP1 |
| 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 FRK-DTNBP1 |
| 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 FRK-DTNBP1 |
| 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 FRK-DTNBP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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