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Fusion Protein:JAK2-DOCK8 |
Fusion Gene and Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: JAK2-DOCK8 | FusionPDB ID: 40852 | FusionGDB2.0 ID: 40852 | Hgene | Tgene | Gene symbol | JAK2 | DOCK8 | Gene ID | 3717 | 81704 |
| Gene name | Janus kinase 2 | dedicator of cytokinesis 8 | |
| Synonyms | JTK10|THCYT3 | HEL-205|MRD2|ZIR8 | |
| Cytomap | 9p24.1 | 9p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205 | |
| Modification date | 20200329 | 20200327 | |
| UniProtAcc | O60674 Main function of 5'-partner protein: FUNCTION: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). {ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980, ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:9618263}. | Q8NF50 Main function of 5'-partner protein: FUNCTION: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780). {ECO:0000250|UniProtKB:Q8C147, ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780, ECO:0000269|PubMed:28028151}. | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000381652, ENST00000539801, ENST00000544510, ENST00000487310, | ENST00000432829, ENST00000469391, ENST00000382329, ENST00000382331, ENST00000493666, ENST00000453981, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 10 X 8=1040 | 9 X 14 X 10=1260 |
| # samples | 11 | 16 | |
| ** MAII score | log2(11/1040*10)=-3.24100809950379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1260*10)=-2.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Fusion gene context | PubMed: JAK2 [Title/Abstract] AND DOCK8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Fusion neoantigen context | PubMed: JAK2 [Title/Abstract] AND DOCK8 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DOCK8(340321)-JAK2(5050686), # samples:3 JAK2(5055788)-DOCK8(286461), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | JAK2-DOCK8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. JAK2-DOCK8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. JAK2-DOCK8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. JAK2-DOCK8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. DOCK8-JAK2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. DOCK8-JAK2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. DOCK8-JAK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. DOCK8-JAK2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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 | JAK2 | GO:0010811 | positive regulation of cell-substrate adhesion | 10925297 |
| Hgene | JAK2 | GO:0019221 | cytokine-mediated signaling pathway | 8609418 |
| Hgene | JAK2 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 8609418 |
| Hgene | JAK2 | GO:0034612 | response to tumor necrosis factor | 8609418 |
| Hgene | JAK2 | GO:0035409 | histone H3-Y41 phosphorylation | 19783980 |
| Hgene | JAK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
| Hgene | JAK2 | GO:0046677 | response to antibiotic | 16280321 |
| Hgene | JAK2 | GO:0050727 | regulation of inflammatory response | 10925297 |
| Hgene | JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
| Hgene | JAK2 | GO:0070671 | response to interleukin-12 | 7528775 |
| Tgene | DOCK8 | GO:0043547 | positive regulation of GTPase activity | 28028151 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:340321/chr9:5050686) - 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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| Retention analysis results 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, are available here. |
| Fusion gene breakpoints across JAK2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across DOCK8 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000539801 | JAK2 | chr9 | 5055788 | + | ENST00000453981 | DOCK8 | chr9 | 286461 | + | 8349 | 1169 | 113 | 7312 | 2399 |
| ENST00000381652 | JAK2 | chr9 | 5055788 | + | ENST00000453981 | DOCK8 | chr9 | 286461 | + | 8730 | 1550 | 494 | 7693 | 2399 |
| ENST00000544510 | JAK2 | chr9 | 5055788 | + | ENST00000453981 | DOCK8 | chr9 | 286461 | + | 8160 | 980 | 260 | 7123 | 2287 |
| 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 |
| ENST00000539801 | ENST00000453981 | JAK2 | chr9 | 5055788 | + | DOCK8 | chr9 | 286461 | + | 0.000540806 | 0.9994592 |
| ENST00000381652 | ENST00000453981 | JAK2 | chr9 | 5055788 | + | DOCK8 | chr9 | 286461 | + | 0.000801087 | 0.999199 |
| ENST00000544510 | ENST00000453981 | JAK2 | chr9 | 5055788 | + | DOCK8 | chr9 | 286461 | + | 0.000851425 | 0.9991486 |
| Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones. |
Get the fusion protein sequences from here. |
| Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for JAK2-DOCK8 |
| +/-13 AA sequence from the breakpoints of the fusion protein sequences. |
| Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
| JAK2 | chr9 | 5055788 | DOCK8 | chr9 | 286461 | 1169 | 352 | RVVTIHKQDGKNLPQFYDPVEPVDFE |
| JAK2 | chr9 | 5055788 | DOCK8 | chr9 | 286461 | 1550 | 352 | RVVTIHKQDGKNLPQFYDPVEPVDFE |
| JAK2 | chr9 | 5055788 | DOCK8 | chr9 | 286461 | 980 | 240 | RVVTIHKQDGKNLPQFYDPVEPVDFE |
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Potential FusionNeoAntigen Information of JAK2-DOCK8 in HLA I |
| Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific. |
| JAK2-DOCK8_5055788_286461.msa |
| Potential FusionNeoAntigen Information * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
| Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:03 | KQDGKNLPQF | 0.968 | 0.8823 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B47:01 | KQDGKNLPQF | 0.9606 | 0.8234 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B13:01 | KQDGKNLPQF | 0.8457 | 0.9891 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-A24:14 | KQDGKNLPQF | 0.7491 | 0.5386 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:01 | KQDGKNLPQFY | 0.9991 | 0.9243 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B51:02 | LPQFYDPVEPV | 0.962 | 0.6723 | 12 | 23 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-A02:07 | NLPQFYDPV | 0.966 | 0.6887 | 11 | 20 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-C05:09 | KQDGKNLPQF | 0.9999 | 0.9822 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B39:08 | KQDGKNLPQF | 0.8574 | 0.9457 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:05 | KQDGKNLPQF | 0.8476 | 0.9218 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:07 | KQDGKNLPQFY | 0.9945 | 0.8397 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B54:01 | LPQFYDPVEPV | 0.9942 | 0.7052 | 12 | 23 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:05 | KQDGKNLPQFY | 0.9665 | 0.8981 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B18:07 | DGKNLPQFY | 0.485 | 0.9349 | 8 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-C05:01 | KQDGKNLPQF | 0.9999 | 0.9822 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:24 | KQDGKNLPQF | 0.9972 | 0.9615 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:54 | KQDGKNLPQF | 0.995 | 0.9258 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:53 | KQDGKNLPQF | 0.9944 | 0.9415 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B48:02 | KQDGKNLPQF | 0.949 | 0.9579 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B40:21 | KQDGKNLPQF | 0.8633 | 0.7485 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:20 | KQDGKNLPQF | 0.8458 | 0.9581 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B35:28 | KQDGKNLPQF | 0.8364 | 0.9662 | 6 | 16 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:50 | KQDGKNLPQFY | 0.9992 | 0.9436 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:33 | KQDGKNLPQFY | 0.9991 | 0.9243 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:34 | KQDGKNLPQFY | 0.9991 | 0.9243 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:27 | KQDGKNLPQFY | 0.9991 | 0.9322 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:125 | KQDGKNLPQFY | 0.9991 | 0.9243 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:12 | KQDGKNLPQFY | 0.9991 | 0.9183 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:135 | KQDGKNLPQFY | 0.999 | 0.9313 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:24 | KQDGKNLPQFY | 0.9966 | 0.9416 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:53 | KQDGKNLPQFY | 0.9963 | 0.9063 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:54 | KQDGKNLPQFY | 0.9931 | 0.8891 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:35 | KQDGKNLPQFY | 0.9925 | 0.9271 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:68 | KQDGKNLPQFY | 0.9699 | 0.7472 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B15:20 | KQDGKNLPQFY | 0.969 | 0.9418 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B59:01 | LPQFYDPVEPV | 0.964 | 0.66 | 12 | 23 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B35:28 | KQDGKNLPQFY | 0.9555 | 0.9577 | 6 | 17 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B51:09 | LPQFYDPVEPV | 0.9408 | 0.7655 | 12 | 23 |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 | HLA-B48:02 | KQDGKNLPQFY | 0.8456 | 0.947 | 6 | 17 |
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Potential FusionNeoAntigen Information of JAK2-DOCK8 in HLA II |
| Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific. |
| Potential FusionNeoAntigen Information * We used NetMHCIIpan v4.1 (%rank<0.5). |
| Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of JAK2-DOCK8 |
| 3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
| File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
| 4513 | KQDGKNLPQFYDPV | JAK2 | DOCK8 | chr9 | 5055788 | chr9 | 286461 | 1550 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of JAK2-DOCK8 |
| Virtual screening between 25 HLAs (from PDB) and FusionNeoAntigens * We used Glide to predict the interaction between HLAs and neoantigens. |
| HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
| HLA-B14:02 | 3BVN | 4513 | KQDGKNLPQFYDPV | -7.9962 | -8.1096 |
| HLA-B14:02 | 3BVN | 4513 | KQDGKNLPQFYDPV | -5.70842 | -6.74372 |
| HLA-B52:01 | 3W39 | 4513 | KQDGKNLPQFYDPV | -6.83737 | -6.95077 |
| HLA-B52:01 | 3W39 | 4513 | KQDGKNLPQFYDPV | -4.4836 | -5.5189 |
| HLA-A11:01 | 4UQ2 | 4513 | KQDGKNLPQFYDPV | -10.0067 | -10.1201 |
| HLA-A11:01 | 4UQ2 | 4513 | KQDGKNLPQFYDPV | -9.03915 | -10.0745 |
| HLA-A24:02 | 5HGA | 4513 | KQDGKNLPQFYDPV | -6.56204 | -6.67544 |
| HLA-A24:02 | 5HGA | 4513 | KQDGKNLPQFYDPV | -5.42271 | -6.45801 |
| HLA-B44:05 | 3DX8 | 4513 | KQDGKNLPQFYDPV | -7.85648 | -8.89178 |
| HLA-B44:05 | 3DX8 | 4513 | KQDGKNLPQFYDPV | -5.3978 | -5.5112 |
| HLA-A02:01 | 6TDR | 4513 | KQDGKNLPQFYDPV | -3.37154 | -4.40684 |
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Vaccine Design for the FusionNeoAntigens of JAK2-DOCK8 |
| mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is. |
| Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 11 | 20 | NLPQFYDPV | AATCTGCCTCAGTTTTATGACCCTGTG |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 12 | 23 | LPQFYDPVEPV | CTGCCTCAGTTTTATGACCCTGTGGAGCCAGTG |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 6 | 16 | KQDGKNLPQF | AAGCAAGATGGTAAAAATCTGCCTCAGTTT |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 6 | 17 | KQDGKNLPQFY | AAGCAAGATGGTAAAAATCTGCCTCAGTTTTAT |
| JAK2-DOCK8 | chr9 | 5055788 | chr9 | 286461 | 8 | 17 | DGKNLPQFY | GATGGTAAAAATCTGCCTCAGTTTTAT |
| mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs. |
| Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of JAK2-DOCK8 |
| These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens. |
| Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
| SKCM | JAK2-DOCK8 | chr9 | 5055788 | ENST00000381652 | chr9 | 286461 | ENST00000453981 | TCGA-WE-A8ZN-06A |
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Potential target of CAR-T therapy development for JAK2-DOCK8 |
| Predicted 3D structure. We used RoseTTAFold. |
| 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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features * Minus value of BPloci means that the break point is located before the CDS. |
| - In-frame and retained 'Transmembrane'. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Subcellular localization prediction of the transmembrane domain retained fusion proteins * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
| Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to JAK2-DOCK8 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to JAK2-DOCK8 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JAK2 | C0032463 | Polycythemia Vera | 12 | CTD_human;ORPHANET;UNIPROT |
| Hgene | JAK2 | C0040028 | Thrombocythemia, Essential | 10 | CTD_human;ORPHANET |
| Hgene | JAK2 | C0001815 | Primary Myelofibrosis | 9 | CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | JAK2 | C3489628 | Thrombocytosis, Autosomal Dominant | 8 | CTD_human |
| Hgene | JAK2 | C0019154 | Hepatic Vein Thrombosis | 3 | CTD_human;ORPHANET |
| Hgene | JAK2 | C0856761 | Budd-Chiari Syndrome | 3 | CTD_human;ORPHANET |
| Hgene | JAK2 | C0009324 | Ulcerative Colitis | 2 | CTD_human |
| Hgene | JAK2 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
| Hgene | JAK2 | C0151744 | Myocardial Ischemia | 2 | CTD_human |
| Hgene | JAK2 | C0836924 | Thrombocytosis | 2 | CTD_human |
| Hgene | JAK2 | C3281125 | THROMBOCYTHEMIA 3 | 2 | UNIPROT |
| Hgene | JAK2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | JAK2 | C0000822 | Abortion, Tubal | 1 | CTD_human |
| Hgene | JAK2 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | JAK2 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Hgene | JAK2 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | JAK2 | C0019207 | Hepatoma, Morris | 1 | CTD_human |
| Hgene | JAK2 | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
| Hgene | JAK2 | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | JAK2 | C0023418 | leukemia | 1 | CTD_human |
| Hgene | JAK2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CGI;CTD_human;UNIPROT |
| Hgene | JAK2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | JAK2 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Hgene | JAK2 | C0025472 | Mesenteric Vascular Occlusion | 1 | CTD_human |
| Hgene | JAK2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
| Hgene | JAK2 | C0032461 | Polycythemia | 1 | CTD_human |
| Hgene | JAK2 | C0032962 | Pregnancy Complications | 1 | CTD_human |
| Hgene | JAK2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | JAK2 | C0040038 | Thromboembolism | 1 | CTD_human |
| Hgene | JAK2 | C0042487 | Venous Thrombosis | 1 | CTD_human |
| Hgene | JAK2 | C0086404 | Experimental Hepatoma | 1 | CTD_human |
| Hgene | JAK2 | C0149871 | Deep Vein Thrombosis | 1 | CTD_human |
| Hgene | JAK2 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
| Hgene | JAK2 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| Hgene | JAK2 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| Hgene | JAK2 | C0521174 | Microcalcification | 1 | CTD_human |
| Hgene | JAK2 | C1527405 | Erythrocytosis | 1 | CTD_human |
| Hgene | JAK2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
| Hgene | JAK2 | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
| Hgene | JAK2 | C3495676 | Anorectal Malformations | 1 | GENOMICS_ENGLAND |
| Hgene | JAK2 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
| Hgene | JAK2 | C4048328 | cervical cancer | 1 | CTD_human |
| Hgene | JAK2 | C4303761 | Familial thrombocytosis | 1 | ORPHANET |
| Hgene | JAK2 | C4552766 | Miscarriage | 1 | CTD_human |
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