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Fusion Protein:JAK2-GLDC |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: JAK2-GLDC | FusionPDB ID: 40854 | FusionGDB2.0 ID: 40854 | Hgene | Tgene | Gene symbol | JAK2 | GLDC | Gene ID | 3717 | 2731 |
Gene name | Janus kinase 2 | glycine decarboxylase | |
Synonyms | JTK10|THCYT3 | GCE|GCSP|HYGN1 | |
Cytomap | 9p24.1 | 9p24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | glycine dehydrogenase (decarboxylating), mitochondrialglycine cleavage system protein Pglycine decarboxylase P-proteinglycine dehydrogenase (aminomethyl-transferring)glycine dehydrogenase [decarboxylating], mitochondrialnonketotic hyperglycinemia | |
Modification date | 20200329 | 20200320 | |
UniProtAcc | O60674 | P23378 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000381652, ENST00000539801, ENST00000487310, ENST00000544510, | ENST00000460457, ENST00000321612, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 10 X 8=1040 | 2 X 1 X 2=4 |
# samples | 11 | 3 | |
** MAII score | log2(11/1040*10)=-3.24100809950379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/4*10)=2.90689059560852 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: JAK2 [Title/Abstract] AND GLDC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | JAK2(5029906)-GLDC(6565429), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | JAK2-GLDC 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-GLDC 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. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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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 | GLDC | GO:0006546 | glycine catabolic process | 28244183 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 Sample Information |
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![]() * 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 | HNSC | TCGA-HD-7229-01A | JAK2 | chr9 | 5029906 | - | GLDC | chr9 | 6565429 | - |
ChimerDB4 | HNSC | TCGA-HD-7229-01A | JAK2 | chr9 | 5029906 | + | GLDC | chr9 | 6565429 | - |
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Fusion ORF Analysis |
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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 | 5029906 | + | ENST00000321612 | GLDC | chr9 | 6565429 | - | 2229 | 463 | 113 | 1675 | 520 |
ENST00000381652 | JAK2 | chr9 | 5029906 | + | ENST00000321612 | GLDC | chr9 | 6565429 | - | 2610 | 844 | 494 | 2056 | 520 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000539801 | ENST00000321612 | JAK2 | chr9 | 5029906 | + | GLDC | chr9 | 6565429 | - | 0.000805238 | 0.9991948 |
ENST00000381652 | ENST00000321612 | JAK2 | chr9 | 5029906 | + | GLDC | chr9 | 6565429 | - | 0.001198609 | 0.99880135 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >40854_40854_1_JAK2-GLDC_JAK2_chr9_5029906_ENST00000381652_GLDC_chr9_6565429_ENST00000321612_length(amino acids)=520AA_BP=116 MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSGEYVAEEICIAASKACGITPVYHNMFALMSE TERIWYPPNHVFHIDESTRHNVLYRISGAQGEYAGLATIRAYLNQKGEGHRTVCLIPKSAHGTNPASAHMAGMKIQPVEVDKYGNIDAVH LKAMVDKHKENLAAIMITYPSTNGVFEENISDVCDLIHQHGGQVYLDGANMNAQVGICRPGDFGSDVSHLNLHKTFCIPHGGGGPGMGPI GVKKHLAPFLPNHPVISLKRNEDACPVGTVSAAPWGSSSILPISWAYIKMMGGKGLKQATETAILNANYMAKRLETHYRILFRGARGYVG HEFILDTRPFKKSANIEAVDVAKRLQDYGFHAPTMSWPVAGTLMVEPTESEDKAELDRFCDAMISIRQEIADIEEGRIDPRVNPLKMSPH -------------------------------------------------------------- >40854_40854_2_JAK2-GLDC_JAK2_chr9_5029906_ENST00000539801_GLDC_chr9_6565429_ENST00000321612_length(amino acids)=520AA_BP=116 MGMACLTMTEMEGTSTSSIYQNGDISGNANSMKQIDPVLQVYLYHSLGKSEADYLTFPSGEYVAEEICIAASKACGITPVYHNMFALMSE TERIWYPPNHVFHIDESTRHNVLYRISGAQGEYAGLATIRAYLNQKGEGHRTVCLIPKSAHGTNPASAHMAGMKIQPVEVDKYGNIDAVH LKAMVDKHKENLAAIMITYPSTNGVFEENISDVCDLIHQHGGQVYLDGANMNAQVGICRPGDFGSDVSHLNLHKTFCIPHGGGGPGMGPI GVKKHLAPFLPNHPVISLKRNEDACPVGTVSAAPWGSSSILPISWAYIKMMGGKGLKQATETAILNANYMAKRLETHYRILFRGARGYVG HEFILDTRPFKKSANIEAVDVAKRLQDYGFHAPTMSWPVAGTLMVEPTESEDKAELDRFCDAMISIRQEIADIEEGRIDPRVNPLKMSPH -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:5029906/chr9:6565429) - 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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Hgene | Tgene |
JAK2 | GLDC |
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}. | FUNCTION: The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH). {ECO:0000269|PubMed:1993704, ECO:0000269|PubMed:1996985, ECO:0000269|PubMed:28244183}. |
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- 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 |
- 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 |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 37_380 | 116.66666666666667 | 1133.0 | Domain | FERM |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 401_482 | 116.66666666666667 | 1133.0 | Domain | SH2%3B atypical |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 545_809 | 116.66666666666667 | 1133.0 | Domain | Protein kinase 1 |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 849_1124 | 116.66666666666667 | 1133.0 | Domain | Protein kinase 2 |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 37_380 | 116.66666666666667 | 1133.0 | Domain | FERM |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 401_482 | 116.66666666666667 | 1133.0 | Domain | SH2%3B atypical |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 545_809 | 116.66666666666667 | 1133.0 | Domain | Protein kinase 1 |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 849_1124 | 116.66666666666667 | 1133.0 | Domain | Protein kinase 2 |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 855_863 | 116.66666666666667 | 1133.0 | Nucleotide binding | ATP |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 855_863 | 116.66666666666667 | 1133.0 | Nucleotide binding | ATP |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
JAK2 | PRMT5, SOCS1, PPIA, IL12RB2, EPOR, FYN, STAT5A, STAT5B, SH2B2, CXCR4, DNAJA3, HSPA8, TEC, PTPN12, PTK2, CSF2RB, GHR, VAV1, SIRPA, IRS1, BRCA1, GRB2, EGFR, PTK2B, PTPN11, TNFRSF1A, SOCS3, PTPN6, LYN, HTR2A, ERBB2, ELP2, KIT, RAF1, SH2B1, IL5RA, PPP2R1B, IFNGR1, IFNGR2, CCR5, PRLR, IL6ST, SHC1, GRB10, TUB, TSHR, STAT3, INSR, STAM, PTPN1, STAM2, IL2RB, CTLA4, ALK, IKBKG, FGFR1, STAT1, HSP90AA1, HSP90AB1, ASB2, SKP2, GTF2I, HIST3H3, HIST2H3C, CDKN1B, VHL, PIK3R1, MAP3K5, AGTR1, PTAFR, JAK2, IL4R, IL2RG, PPP1CC, ERBB3, CALM1, SRC, JAK3, PLCG1, HES1, HES5, Ifngr1, ASS1, RBMX, TRAF6, EZH2, DTX3L, EMD, KPNB1, NAP1L1, RCN1, SLC2A1, UBP1, ARL11, HSFY1, HDAC6, HNRNPL, CBL, RNF123, Lmo4, GOLPH3, IGF1R, PARP9, LNX1, LDOC1, CSK, MPL, CUL4A, CUL4B, M, JAK1, AMY1C, BPIFA2, ARHGAP18, BACH1, IGHA2, HMMR, MUC7, CST2, IGJ, PBK, MUC5B, SPRR3, ZG16B, VCP, |
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Gene | STRING network |
JAK2 | ![]() |
GLDC |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000381652 | + | 4 | 25 | 1_239 | 116.66666666666667 | 1133.0 | cytokine/interferon/growth hormone receptors |
Hgene | JAK2 | chr9:5029906 | chr9:6565429 | ENST00000539801 | + | 3 | 24 | 1_239 | 116.66666666666667 | 1133.0 | cytokine/interferon/growth hormone receptors |
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Related Drugs to JAK2-GLDC |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to JAK2-GLDC |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (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 |