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Fusion gene ID: 18011 |
FusionGeneSummary for JAK2_B2M |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JAK2_B2M | Fusion gene ID: 18011 | Hgene | Tgene | Gene symbol | JAK2 | B2M | Gene ID | 3717 | 567 |
| Gene name | Janus kinase 2 | beta-2-microglobulin | |
| Synonyms | JTK10|THCYT3 | IMD43 | |
| Cytomap | 9p24.1 | 15q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O60674 | P61769 | |
| Ensembl transtripts involved in fusion gene | ENST00000539801, ENST00000381652, ENST00000544510, ENST00000487310, | ENST00000558401, ENST00000559916, ENST00000544417, ENST00000559220, | |
| Fusion gene scores | * DoF score | 8 X 8 X 6=384 | 14 X 19 X 3=798 |
| # samples | 10 | 23 | |
| ** MAII score | log2(10/384*10)=-1.94110631094643 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/798*10)=-1.79475488527797 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: JAK2 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | B2M | GO:0002726 | positive regulation of T cell cytokine production | 24643698 |
| Tgene | B2M | GO:1900121 | negative regulation of receptor binding | 9465039 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF819555 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-3UTR | ENST00000539801 | ENST00000558401 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000539801 | ENST00000559916 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000539801 | ENST00000544417 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-3UTR | ENST00000539801 | ENST00000559220 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-3UTR | ENST00000381652 | ENST00000558401 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000381652 | ENST00000559916 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000381652 | ENST00000544417 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-3UTR | ENST00000381652 | ENST00000559220 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-3UTR | ENST00000544510 | ENST00000558401 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000544510 | ENST00000559916 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-intron | ENST00000544510 | ENST00000544417 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| 5CDS-3UTR | ENST00000544510 | ENST00000559220 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| intron-3UTR | ENST00000487310 | ENST00000558401 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| intron-intron | ENST00000487310 | ENST00000559916 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| intron-intron | ENST00000487310 | ENST00000544417 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
| intron-3UTR | ENST00000487310 | ENST00000559220 | JAK2 | chr9 | 5044501 | + | B2M | chr15 | 45010234 | + |
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FusionProtFeatures for JAK2_B2M |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JAK2 | B2M |
| Non-receptor tyrosine kinase involved in variousprocesses such as cell growth, development, differentiation orhistone modifications. Mediates essential signaling events in bothinnate and adaptive immunity. In the cytoplasm, plays a pivotalrole in signal transduction via its association with type Ireceptors such as growth hormone (GHR), prolactin (PRLR), leptin(LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type IIreceptors including IFN-alpha, IFN-beta, IFN-gamma and multipleinterleukins (PubMed:7615558). Following ligand-binding to cellsurface receptors, phosphorylates specific tyrosine residues onthe cytoplasmic tails of the receptor, creating docking sites forSTATs proteins (PubMed:9618263). Subsequently, phosphorylates theSTATs proteins once they are recruited to the receptor.Phosphorylated STATs then form homodimer or heterodimers andtranslocate to the nucleus to activate gene transcription. Forexample, cell stimulation with erythropoietin (EPO) duringerythropoiesis leads to JAK2 autophosphorylation, activation, andits association with erythropoietin receptor (EPOR) that becomesphosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A orSTAT5B) is recruited, phosphorylated and activated by JAK2. Onceactivated, dimerized STAT5 translocates into the nucleus andpromotes the transcription of several essential genes involved inthe modulation of erythropoiesis. Part of a signaling cascade thatis activated by increased cellular retinol and that leads to theactivation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). Inaddition, JAK2 mediates angiotensin-2-induced ARHGEF1phosphorylation (PubMed:20098430). Plays a role in cell cycle byphosphorylating CDKN1B (PubMed:21423214). Cooperates with TECthrough reciprocal phosphorylation to mediate cytokine-drivenactivation of FOS transcription. In the nucleus, plays a key rolein chromatin by specifically mediating phosphorylation of 'Tyr-41'of histone H3 (H3Y41ph), a specific tag that promotes exclusion ofCBX5 (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}. | Component of the class I major histocompatibilitycomplex (MHC). Involved in the presentation of peptide antigens tothe immune system. Exogenously applied M.tuberculosis EsxA orEsxA-EsxB (or EsxA expressed in host) binds B2M and decreases itsexport to the cell surface (total protein levels do not change),probably leading to defects in class I antigen presentation(PubMed:25356553). {ECO:0000269|PubMed:25356553}. |
| 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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FusionGeneSequence for JAK2_B2M |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for JAK2_B2M |
| 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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RelatedDrugs for JAK2_B2M |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | JAK2 | O60674 | DB08877 | Ruxolitinib | Tyrosine-protein kinase JAK2 | small molecule | approved |
| Hgene | JAK2 | O60674 | DB08895 | Tofacitinib | Tyrosine-protein kinase JAK2 | small molecule | approved|investigational |
| Tgene | B2M | P61769 | DB00254 | Doxycycline | Beta-2-microglobulin | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for JAK2_B2M |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JAK2 | C0032463 | Polycythemia Vera | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | JAK2 | C0001815 | Primary Myelofibrosis | 9 | CTD_human |
| Hgene | JAK2 | C0040028 | Thrombocythemia, Essential | 8 | CTD_human;ORPHANET |
| Hgene | JAK2 | C0009324 | Ulcerative Colitis | 2 | CTD_human |
| Hgene | JAK2 | C0151744 | Myocardial Ischemia | 2 | CTD_human |
| Hgene | JAK2 | C0836924 | Thrombocytosis | 2 | CTD_human;HPO |
| Hgene | JAK2 | C0856761 | Budd-Chiari Syndrome | 2 | CTD_human;HPO;ORPHANET |
| Hgene | JAK2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | JAK2 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | JAK2 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | JAK2 | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | JAK2 | C0023418 | leukemia | 1 | CTD_human |
| Hgene | JAK2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human;UNIPROT |
| Hgene | JAK2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | JAK2 | C0025472 | Mesenteric Vascular Occlusion | 1 | CTD_human |
| Hgene | JAK2 | C0027022 | Myeloproliferative disease | 1 | CTD_human;HPO |
| 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;HPO |
| Hgene | JAK2 | C0042487 | Venous Thrombosis | 1 | CTD_human;HPO |
| Hgene | JAK2 | C3281125 | THROMBOCYTHEMIA 3 | 1 | ORPHANET;UNIPROT |
| Tgene | B2M | C0022658 | Kidney Diseases | 3 | CTD_human;HPO |
| Tgene | B2M | C2609414 | Acute kidney injury | 2 | CTD_human |
| Tgene | B2M | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | B2M | C0018799 | Heart Diseases | 1 | CTD_human |
| Tgene | B2M | C0020455 | Hypergammaglobulinemia | 1 | CTD_human |
| Tgene | B2M | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | B2M | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | B2M | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | B2M | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human |
| Tgene | B2M | C0268389 | Amyloidosis, familial visceral | 1 | UNIPROT |
| Tgene | B2M | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | B2M | C1855796 | Hypoproteinemia, Hypercatabolic | 1 | CTD_human;UNIPROT |
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