|
||||||
|
 | 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:DST-HCST (FusionGDB2 ID:24288) |
Fusion Gene Summary for DST-HCST |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DST-HCST | Fusion gene ID: 24288 | Hgene | Tgene | Gene symbol | DST | HCST | Gene ID | 667 | 10870 |
| Gene name | dystonin | hematopoietic cell signal transducer | |
| Synonyms | BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2 | DAP10|KAP10|PIK3AP | |
| Cytomap | 6p12.1 | 19q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-beta | hematopoietic cell signal transducerDNAX-activation protein 10kinase assoc pro of ~10kDakinase assoc proteinmembrane protein DAP10phosphoinositide-3-kinase adaptor proteintransmembrane adapter protein KAP10 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q03001 | Q9UBK5 | |
| Ensembl transtripts involved in fusion gene | ENST00000312431, ENST00000361203, ENST00000370769, ENST00000370788, ENST00000421834, ENST00000244364, ENST00000340834, ENST00000370754, ENST00000370765, ENST00000446842, ENST00000518935, | ENST00000246551, ENST00000437550, | |
| Fusion gene scores | * DoF score | 28 X 24 X 12=8064 | 3 X 2 X 3=18 |
| # samples | 27 | 4 | |
| ** MAII score | log2(27/8064*10)=-4.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DST [Title/Abstract] AND HCST [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DST(56707853)-HCST(36394253), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | DST-HCST seems lost the major protein functional domain in Hgene 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 |
| Hgene | DST | GO:0009611 | response to wounding | 19403692 |
| Tgene | HCST | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 10426994 |
| Fusion gene breakpoints across DST (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 HCST (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 | LUAD | TCGA-35-4123-01A | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
Top |
Fusion Gene ORF analysis for DST-HCST |
| 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 | ENST00000312431 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000312431 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000361203 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000361203 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000370769 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000370769 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000370788 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000370788 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000421834 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| Frame-shift | ENST00000421834 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000244364 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000244364 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000340834 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000340834 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000370754 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000370754 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000370765 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000370765 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000446842 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000446842 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000518935 | ENST00000246551 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| intron-3CDS | ENST00000518935 | ENST00000437550 | DST | chr6 | 56707853 | - | HCST | chr19 | 36394253 | + |
| 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 DST-HCST |
| 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) |
| DST | chr6 | 56707852 | - | HCST | chr19 | 36394252 | + | 9.23E-08 | 0.9999999 |
| DST | chr6 | 56707852 | - | HCST | chr19 | 36394252 | + | 9.23E-08 | 0.9999999 |
| 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. |
 |
Top |
Fusion Protein Features for DST-HCST |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56707853/:36394253) - 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 |
| DST | HCST |
| FUNCTION: Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity). {ECO:0000250|UniProtKB:Q91ZU6}.; FUNCTION: [Isoform 3]: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.; FUNCTION: [Isoform 6]: required for bundling actin filaments around the nucleus. {ECO:0000250, ECO:0000269|PubMed:10428034, ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692}.; FUNCTION: [Isoform 7]: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. | FUNCTION: Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells. {ECO:0000269|PubMed:10426994, ECO:0000269|PubMed:10528161, ECO:0000269|PubMed:11015446, ECO:0000269|PubMed:11777960, ECO:0000269|PubMed:12740575, ECO:0000269|PubMed:12740576, ECO:0000269|PubMed:16002667, ECO:0000269|PubMed:16339517, ECO:0000269|PubMed:16582911, ECO:0000269|PubMed:18097042}. |
| 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 DST-HCST |
| 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 DST-HCST |
| 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 DST-HCST |
| 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 DST-HCST |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies