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Kinase Fusion Gene:SPAG9_JAK2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: SPAG9_JAK2 | KinaseFusionDB ID: KFG5996 | FusionGDB2.0 ID: KFG5996 | Hgene | Tgene | Gene symbol | SPAG9 | JAK2 | Gene ID | 9043 | 3717 | |
Gene name | sperm associated antigen 9 | Janus kinase 2 | ||||||||||
Synonyms | CT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6 | JTK10 | ||||||||||
Cytomap | 17q21.33 | 9p24.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | C-Jun-amino-terminal kinase-interacting protein 4C-Jun N-terminal kinase protein-associated leucine-zipper proteinJNK interacting proteinJNK/SAPK-associated proteinMax-binding proteinc-Jun NH2-terminal kinase-associated leucine zipper proteincancer/ | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | ||||||||||
Modification date | 20240411 | 20240411 | ||||||||||
UniProtAcc | O60271 | O60674 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000262013, ENST00000357122, ENST00000505279, ENST00000509724, ENST00000510283, | ENST00000381652, ENST00000487310, ENST00000539801, ENST00000544510, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SPAG9 [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) |
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 | SPAG9 | GO:0042147 | retrograde transport, endosome to Golgi | 19056739 |
Tgene | JAK2 | GO:0007259 | cell surface receptor signaling pathway via JAK-STAT | 18692472|31145836 |
Tgene | JAK2 | GO:0010572 | positive regulation of platelet activation | 31145836 |
Tgene | JAK2 | GO:0010811 | positive regulation of cell-substrate adhesion | 10925297 |
Tgene | JAK2 | GO:0019221 | cytokine-mediated signaling pathway | 8609418 |
Tgene | JAK2 | GO:0032729 | positive regulation of type II interferon production | 12023369|19088061 |
Tgene | JAK2 | GO:0032819 | positive regulation of natural killer cell proliferation | 19088061 |
Tgene | JAK2 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 8609418 |
Tgene | JAK2 | GO:0034612 | response to tumor necrosis factor | 8609418 |
Tgene | JAK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
Tgene | JAK2 | GO:0038043 | interleukin-5-mediated signaling pathway | 7613138 |
Tgene | JAK2 | GO:0038156 | interleukin-3-mediated signaling pathway | 8007942 |
Tgene | JAK2 | GO:0038157 | granulocyte-macrophage colony-stimulating factor signaling pathway | 18692472 |
Tgene | JAK2 | GO:0042102 | positive regulation of T cell proliferation | 11114383 |
Tgene | JAK2 | GO:0043687 | post-translational protein modification | 19783980 |
Tgene | JAK2 | GO:0046427 | positive regulation of receptor signaling pathway via JAK-STAT | 7638186|12023369 |
Tgene | JAK2 | GO:0046677 | response to antibiotic | 16280321 |
Tgene | JAK2 | GO:0050727 | regulation of inflammatory response | 10925297 |
Tgene | JAK2 | GO:0051142 | positive regulation of NK T cell proliferation | 19088061 |
Tgene | JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
Tgene | JAK2 | GO:0070665 | positive regulation of leukocyte proliferation | 18692472 |
Tgene | JAK2 | GO:0070671 | response to interleukin-12 | 7528775 |
Tgene | JAK2 | GO:1901731 | positive regulation of platelet aggregation | 31145836 |
Kinase Fusion gene breakpoints across SPAG9 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Kinase Fusion gene breakpoints across JAK2 (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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Kinase Fusion Gene Sample Information |
Kinase Fusion gene information. |
Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
ChimerKB4 | . | SPAG9 | chr17 | 49060033 | JAK2 | chr9 | 49060033 |
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Kinase Fusion ORF Analysis |
Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - 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 |
SPAG9 | JAK2 |
FUNCTION: The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:14743216). Regulates lysosomal positioning by acting as an adapter protein which links PIP4P1-positive lysosomes to the dynein-dynactin complex (PubMed:29146937). Assists PIKFYVE selective functionality in microtubule-based endosome-to-TGN trafficking (By similarity). {ECO:0000250|UniProtKB:Q58A65, ECO:0000269|PubMed:14743216, ECO:0000269|PubMed:29146937}. | 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}. |
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. |
- Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
- Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of SPAG9_JAK2 |
Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
JAK2 | O60674 | human | GTF2I | P78347-2 | Y248 | EESEDPDyyQyNIQG | |
JAK2 | O60674 | human | BECN1 | Q14457 | Y333 | QRYRLVPyGNHsYLE | APG6 |
JAK2 | O60674 | human | PAK1 | Q13153 | Y285 | QGASGTVyTAMDVAT | Pkinase |
JAK2 | O60674 | human | PRMT5 | O14744 | Y307 | FAKGyEDyLQsPLQP | PRMT5 |
JAK2 | O60674 | human | STAP2 | Q9UGK3 | Y250 | PFLLDEDyEKVLGyV | |
JAK2 | O60674 | human | GRB2 | P62993 | Y209 | TGMFPRNyVtPVNrN | |
JAK2 | O60674 | human | PRLR | P16471 | S349 | YLDPDTDsGRGSCDs | |
JAK2 | O60674 | human | EZH2 | Q15910 | Y641 | kNEFISEyCGEIISQ | SET |
JAK2 | O60674 | human | STAT5A | P42229 | Y694 | LAkAVDGyVkPQIkQ | |
JAK2 | O60674 | human | PPDPF | Q9H3Y8 | Y17 | LVATHDyyRRRLGst | |
JAK2 | O60674 | human | CCR2 | P41597 | Y139 | ILLTIDRyLAIVHAV | 7tm_1 |
JAK2 | O60674 | human | KDM3A | Q9Y4C1 | Y1101 | PDLGPKMyNAyGLIT | |
JAK2 | O60674 | human | BRD4 | O60885 | Y98 | kLNLPDyykIIKtPM | Bromodomain |
JAK2 | O60674 | human | JAK2 | O60674 | Y570 | VRREVGDyGQLHETE | PK_Tyr_Ser-Thr |
JAK2 | O60674 | human | PAK1 | Q13153 | Y153 | tDksAEDyNssNALN | |
JAK2 | O60674 | human | GRB2 | P62993 | Y52 | DGFIPkNyIEMkPHP | |
JAK2 | O60674 | human | SOCS3 | O14543 | Y221 | IREFLDQyDAPL___ | |
JAK2 | O60674 | human | STAT3 | P40763 | Y705 | DPGsAAPyLktKFIC | |
JAK2 | O60674 | human | PRMT5 | O14744 | Y304 | yELFAKGyEDyLQsP | PRMT5 |
JAK2 | O60674 | human | STAP2 | Q9UGK3 | Y22 | GVLPSHYyESFLEKK | PH |
JAK2 | O60674 | human | GAB2 | Q9UQC2 | Y643 | tsDEKVDyVQVDKEK | |
JAK2 | O60674 | human | MAP3K5 | Q99683 | Y718 | IPERDSRySQPLHEE | Pkinase |
JAK2 | O60674 | human | ARHGEF1 | Q92888 | Y738 | WDQEAQIyELVAQTV | PH_16 |
JAK2 | O60674 | human | H3C1 | P68431 | Y41 | GVkkPHryrPGtVAL | Histone |
JAK2 | O60674 | human | GRB2 | P62993 | Y37 | EECDQNWykAELNGk | SH3_1 |
JAK2 | O60674 | human | GRB2 | P62993 | Y7 | _MEAIAkyDFkATAD | SH3_1 |
JAK2 | O60674 | human | JAK2 | O60674 | S523 | GVsDVPtsPTLQRPT | |
JAK2 | O60674 | human | PPDPF | Q9H3Y8 | Y16 | sLVATHDyyRRRLGs | |
JAK2 | O60674 | human | STAP2 | Q9UGK3 | Y322 | GDGPAVDyENQDVAS | |
JAK2 | O60674 | human | TET2 | Q6N021 | Y1964 | HETSEPTyLRFIKSL | |
JAK2 | O60674 | human | CHEK2 | O96017 | Y156 | EVGPKNSyIAYIEDH | FHA |
JAK2 | O60674 | human | PBK | Q96KB5 | Y74 | NPICNDHyRsVyQkR | Pkinase |
JAK2 | O60674 | human | STAP2 | Q9UGK3 | Y310 | LPNQEENyVTPIGDG | |
JAK2 | O60674 | human | PRMT5 | O14744 | Y297 | NRPPPNAyELFAKGy | PRMT5 |
JAK2 | O60674 | human | MAPK1 | P28482 | Y187 | HtGFLtEyVAtRWyr | Pkinase |
JAK2 | O60674 | human | JAK2 | O60674 | Y119 | VLYRIRFyFPRWYCS | FERM_F1 |
JAK2 | O60674 | human | PDHA1 | P08559 | Y301 | MsDPGVsyRtREEIQ | E1_dh |
JAK2 | O60674 | human | SOCS3 | O14543 | Y204 | VNGHLDSyEkVTQLP | |
JAK2 | O60674 | human | PDK1 | Q15118 | Y243 | ARRLCDLyyINSPEL | |
JAK2 | O60674 | human | BRD4 | O60885 | Y97 | VkLNLPDyykIIKtP | Bromodomain |
JAK2 | O60674 | human | MAPK3 | P27361 | Y204 | HtGFLtEyVAtRWyr | Pkinase |
JAK2 | O60674 | human | PAK1 | Q13153 | Y201 | PEHtKsVyTRsVIEP | |
JAK2 | O60674 | human | TET2 | Q6N021 | Y1939 | CEKYGPDyVPQKSHG | |
JAK2 | O60674 | human | STAT1 | P42224 | Y701 | DGPkGtGyIktELIs |
Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
Enriched GO biological processes of the phosphorylation target genes of the kinase |
Kinase | GOID | GO term | P.adjust |
JAK2 | ID | Description | 0.00e+00 |
JAK2 | GO:0007259 | receptor signaling pathway via JAK-STAT | 3.87e-06 |
JAK2 | GO:0097696 | receptor signaling pathway via STAT | 3.87e-06 |
JAK2 | GO:0071375 | cellular response to peptide hormone stimulus | 3.87e-06 |
JAK2 | GO:1901653 | cellular response to peptide | 1.25e-05 |
JAK2 | GO:0043434 | response to peptide hormone | 2.93e-05 |
JAK2 | GO:0060397 | growth hormone receptor signaling pathway via JAK-STAT | 7.35e-05 |
JAK2 | GO:0000302 | response to reactive oxygen species | 7.56e-05 |
JAK2 | GO:0034198 | cellular response to amino acid starvation | 1.40e-04 |
JAK2 | GO:1990928 | response to amino acid starvation | 1.57e-04 |
JAK2 | GO:0006979 | response to oxidative stress | 1.59e-04 |
JAK2 | GO:0051347 | positive regulation of transferase activity | 1.82e-04 |
JAK2 | GO:0048732 | gland development | 2.58e-04 |
JAK2 | GO:0034614 | cellular response to reactive oxygen species | 2.58e-04 |
JAK2 | GO:0070665 | positive regulation of leukocyte proliferation | 3.46e-04 |
JAK2 | GO:0001659 | temperature homeostasis | 5.21e-04 |
JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 5.21e-04 |
JAK2 | GO:0071378 | cellular response to growth hormone stimulus | 5.32e-04 |
JAK2 | GO:0042063 | gliogenesis | 5.32e-04 |
JAK2 | GO:0009755 | hormone-mediated signaling pathway | 5.32e-04 |
JAK2 | GO:0046777 | protein autophosphorylation | 5.87e-04 |
JAK2 | GO:0030522 | intracellular receptor signaling pathway | 5.88e-04 |
JAK2 | GO:0032869 | cellular response to insulin stimulus | 6.31e-04 |
JAK2 | GO:0042542 | response to hydrogen peroxide | 7.28e-04 |
JAK2 | GO:0120162 | positive regulation of cold-induced thermogenesis | 7.28e-04 |
JAK2 | GO:0071356 | cellular response to tumor necrosis factor | 1.12e-03 |
JAK2 | GO:0060416 | response to growth hormone | 1.16e-03 |
JAK2 | GO:0048863 | stem cell differentiation | 1.21e-03 |
JAK2 | GO:0050727 | regulation of inflammatory response | 1.25e-03 |
JAK2 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 1.25e-03 |
JAK2 | GO:0030099 | myeloid cell differentiation | 1.25e-03 |
JAK2 | GO:0034599 | cellular response to oxidative stress | 1.25e-03 |
JAK2 | GO:0008286 | insulin receptor signaling pathway | 1.27e-03 |
JAK2 | GO:0034612 | response to tumor necrosis factor | 1.27e-03 |
JAK2 | GO:0045022 | early endosome to late endosome transport | 1.35e-03 |
JAK2 | GO:0070663 | regulation of leukocyte proliferation | 1.35e-03 |
JAK2 | GO:0032868 | response to insulin | 1.35e-03 |
JAK2 | GO:1905521 | regulation of macrophage migration | 1.35e-03 |
JAK2 | GO:0030879 | mammary gland development | 1.35e-03 |
JAK2 | GO:0060711 | labyrinthine layer development | 1.35e-03 |
JAK2 | GO:0070849 | response to epidermal growth factor | 1.35e-03 |
JAK2 | GO:0072538 | T-helper 17 type immune response | 1.40e-03 |
JAK2 | GO:0043401 | steroid hormone mediated signaling pathway | 1.42e-03 |
JAK2 | GO:0045860 | positive regulation of protein kinase activity | 1.46e-03 |
JAK2 | GO:0098927 | vesicle-mediated transport between endosomal compartments | 1.48e-03 |
JAK2 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 1.73e-03 |
JAK2 | GO:0120161 | regulation of cold-induced thermogenesis | 1.80e-03 |
JAK2 | GO:0106106 | cold-induced thermogenesis | 1.81e-03 |
JAK2 | GO:0048872 | homeostasis of number of cells | 2.23e-03 |
JAK2 | GO:0062197 | cellular response to chemical stress | 2.23e-03 |
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Related Drugs to SPAG9_JAK2 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
Distribution of the number of studies mentioning SPAG9-JAK2 and kinase inhibitors the PubMed Abstract (04-01-2024) |
Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to SPAG9_JAK2 |
Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
MeSH ID | MeSH term |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | JAK2 | C0032463 | Polycythemia Vera | 12 | CTD_human;ORPHANET;UNIPROT |
Tgene | JAK2 | C0040028 | Thrombocythemia, Essential | 10 | CTD_human;ORPHANET |
Tgene | JAK2 | C0001815 | Primary Myelofibrosis | 9 | CGI;CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | JAK2 | C3489628 | Thrombocytosis, Autosomal Dominant | 8 | CTD_human |
Tgene | JAK2 | C0019154 | Hepatic Vein Thrombosis | 3 | CTD_human;ORPHANET |
Tgene | JAK2 | C0856761 | Budd-Chiari Syndrome | 3 | CTD_human;ORPHANET |
Tgene | JAK2 | C0009324 | Ulcerative Colitis | 2 | CTD_human |
Tgene | JAK2 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
Tgene | JAK2 | C0151744 | Myocardial Ischemia | 2 | CTD_human |
Tgene | JAK2 | C0836924 | Thrombocytosis | 2 | CTD_human |
Tgene | JAK2 | C3281125 | THROMBOCYTHEMIA 3 | 2 | UNIPROT |
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Clinical Trials of the Found Drugs/Small Molecules |
Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
Clinical Trials from clinicaltrials.gov (06-17-2024) |
Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |