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Kinase Fusion Gene:JAK1_HSD11B1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: JAK1_HSD11B1 | KinaseFusionDB ID: KFG2934 | FusionGDB2.0 ID: KFG2934 | Hgene | Tgene | Gene symbol | JAK1 | HSD11B1 | Gene ID | 3716 | 3290 | |
Gene name | Janus kinase 1 | hydroxysteroid 11-beta dehydrogenase 1 | ||||||||||
Synonyms | AIIDE|JAK1A|JAK1B|JTK3 | 11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1 | ||||||||||
Cytomap | 1p31.3 | 1q32.2 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | tyrosine-protein kinase JAK1 | 11-beta-hydroxysteroid dehydrogenase 17-oxosteroid reductasecorticosteroid 11-beta-dehydrogenase isozyme 1short chain dehydrogenase/reductase family 26C member 1 | ||||||||||
Modification date | 20240411 | 20240411 | ||||||||||
UniProtAcc | P23458 | P28845 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000342505, ENST00000465376, | ENST00000261465, ENST00000367027, ENST00000367028, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: JAK1 [Title/Abstract] AND HSD11B1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | JAK1(65432016)-HSD11B1(209878262), # samples:3 |
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 | JAK1 | GO:0007259 | cell surface receptor signaling pathway via JAK-STAT | 7657660|8232552|8272873 |
Hgene | JAK1 | GO:0035723 | interleukin-15-mediated signaling pathway | 7568001 |
Hgene | JAK1 | GO:0035771 | interleukin-4-mediated signaling pathway | 7929391 |
Hgene | JAK1 | GO:0038110 | interleukin-2-mediated signaling pathway | 7973659|11909529 |
Hgene | JAK1 | GO:0038113 | interleukin-9-mediated signaling pathway | 8756628 |
Hgene | JAK1 | GO:0038154 | interleukin-11-mediated signaling pathway | 8272872 |
Hgene | JAK1 | GO:0046677 | response to antibiotic | 16280321 |
Hgene | JAK1 | GO:0060333 | type II interferon-mediated signaling pathway | 8232552 |
Hgene | JAK1 | GO:0060337 | type I interferon-mediated signaling pathway | 7532278|8232552 |
Hgene | JAK1 | GO:0070102 | interleukin-6-mediated signaling pathway | 8272873 |
Hgene | JAK1 | GO:1900182 | positive regulation of protein localization to nucleus | 26479788 |
Kinase Fusion gene breakpoints across JAK1 (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 HSD11B1 (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 |
ChimerDB4 | TCGA-09-1667-01C | JAK1 | chr1 | 65432016 | HSD11B1 | chr1 | 209878262 |
ChimerDB4 | TCGA-09-1667 | JAK1 | chr1 | 65432015 | HSD11B1 | chr1 | 209878261 |
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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/:65432016/:209878262) - 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 |
JAK1 | HSD11B1 |
FUNCTION: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:8232552, PubMed:7615558, PubMed:28111307, PubMed:32750333, PubMed:16239216). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529) as well as interleukin (IL)-10 receptor (PubMed:12133952). Kinase partner for the type I interferon receptor IFNAR2 (PubMed:8232552, PubMed:7615558, PubMed:28111307, PubMed:32750333, PubMed:16239216). In response to interferon-binding to IFNAR1-IFNAR2 heterodimer, phosphorylates and activates its binding partner IFNAR2, creating docking sites for STAT proteins (PubMed:7759950). Directly phosphorylates STAT proteins but also activates STAT signaling through the transactivation of other JAK kinases associated with signaling receptors (PubMed:8232552, PubMed:16239216, PubMed:32750333). {ECO:0000269|PubMed:11909529, ECO:0000269|PubMed:12133952, ECO:0000269|PubMed:16239216, ECO:0000269|PubMed:28111307, ECO:0000269|PubMed:32750333, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:7657660, ECO:0000269|PubMed:8232552}. | FUNCTION: Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:15152005, PubMed:15280030, PubMed:17593962, PubMed:21453287, PubMed:27927697, PubMed:30902677). Participates in the corticosteroid receptor-mediated anti-inflammatory response, as well as metabolic and homeostatic processes (PubMed:12414862, PubMed:10497248, PubMed:15152005, PubMed:21453287). Plays a role in the secretion of aqueous humor in the eye, maintaining a normotensive, intraocular environment (PubMed:11481269). Bidirectional in vitro, predominantly functions as a reductase in vivo, thereby increasing the concentration of active glucocorticoids (PubMed:12414862, PubMed:10497248, PubMed:11481269, PubMed:12460758). It has broad substrate specificity, besides glucocorticoids, it accepts other steroid and sterol substrates (PubMed:15095019, PubMed:15152005, PubMed:17593962, PubMed:21453287). Interconverts 7-oxo- and 7-hydroxy-neurosteroids such as 7-oxopregnenolone and 7beta-hydroxypregnenolone, 7-oxodehydroepiandrosterone (3beta-hydroxy-5-androstene-7,17-dione) and 7beta-hydroxydehydroepiandrosterone (3beta,7beta-dihydroxyandrost-5-en-17-one), among others (PubMed:17593962). Catalyzes the stereo-specific conversion of the major dietary oxysterol, 7-ketocholesterol (7-oxocholesterol), into the more polar 7-beta-hydroxycholesterol metabolite (PubMed:15095019, PubMed:15152005). 7-oxocholesterol is one of the most important oxysterols, it participates in several events such as induction of apoptosis, accumulation in atherosclerotic lesions, lipid peroxidation, and induction of foam cell formation (PubMed:15095019). Mediates the 7-oxo reduction of 7-oxolithocholate mainly to chenodeoxycholate, and to a lesser extent to ursodeoxycholate, both in its free form and when conjugated to glycine or taurine, providing a link between glucocorticoid activation and bile acid metabolism (PubMed:21453287). Catalyzes the synthesis of 7-beta-25-dihydroxycholesterol from 7-oxo-25-hydroxycholesterol in vitro, which acts as a ligand for the G-protein-coupled receptor (GPCR) Epstein-Barr virus-induced gene 2 (EBI2) and may thereby regulate immune cell migration (PubMed:30902677). {ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:12460758, ECO:0000269|PubMed:14973125, ECO:0000269|PubMed:15095019, ECO:0000269|PubMed:15152005, ECO:0000269|PubMed:17593962, ECO:0000269|PubMed:21453287, ECO:0000269|PubMed:27927697, ECO:0000269|PubMed:30902677, ECO:0000303|PubMed:10497248, ECO:0000303|PubMed:11481269, ECO:0000303|PubMed:12414862, ECO:0000303|PubMed:12460758, ECO:0000303|PubMed:15095019, ECO:0000303|PubMed:15152005, ECO:0000303|PubMed:21453287}. |
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 JAK1_HSD11B1 |
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 |
JAK1 | P23458 | human | SIRT1 | Q96EB6 | Y280 | FRSRDGIyARLAVDF | SIR2 |
JAK1 | P23458 | human | EIF2AK3 | Q9NZJ5 | Y585 | NDIkNSGyISRYLTD | |
JAK1 | P23458 | human | STAT5A | P42229 | Y694 | LAkAVDGyVkPQIkQ | |
JAK1 | P23458 | human | RIPK1 | Q13546 | Y384 | kLQDEANyHLyGsRM | |
JAK1 | P23458 | human | SNX8 | Q9Y5X2 | Y126 | MLLHkFPyRMVPALP | PX |
JAK1 | P23458 | human | MAP3K5 | Q99683 | Y718 | IPERDSRySQPLHEE | Pkinase |
JAK1 | P23458 | human | H3C1 | P68431 | Y41 | GVkkPHryrPGtVAL | Histone |
JAK1 | P23458 | human | EIF2AK3 | Q9NZJ5 | Y619 | NKVDDCNyAIkRIRL | Pkinase |
JAK1 | P23458 | human | SIRT1 | Q96EB6 | Y301 | QAMFDIEyFRKDPRP | SIR2 |
JAK1 | P23458 | human | SNX8 | Q9Y5X2 | Y95 | LFLKHVEyEVSSQRF | |
JAK1 | P23458 | human | CD274 | Q9NZQ7 | Y112 | KLQDAGVyRCMISYG | V-set |
JAK1 | P23458 | 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 |
JAK1 | ID | Description | 0.00e+00 |
JAK1 | GO:0042542 | response to hydrogen peroxide | 7.47e-05 |
JAK1 | GO:0001819 | positive regulation of cytokine production | 3.40e-04 |
JAK1 | GO:0000302 | response to reactive oxygen species | 3.40e-04 |
JAK1 | GO:0043124 | negative regulation of canonical NF-kappaB signal transduction | 3.40e-04 |
JAK1 | GO:0071356 | cellular response to tumor necrosis factor | 3.96e-04 |
JAK1 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 3.96e-04 |
JAK1 | GO:0070301 | cellular response to hydrogen peroxide | 3.96e-04 |
JAK1 | GO:0034612 | response to tumor necrosis factor | 4.05e-04 |
JAK1 | GO:0062197 | cellular response to chemical stress | 8.02e-04 |
JAK1 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 1.27e-03 |
JAK1 | GO:0071887 | leukocyte apoptotic process | 1.50e-03 |
JAK1 | GO:0006979 | response to oxidative stress | 1.50e-03 |
JAK1 | GO:2001056 | positive regulation of cysteine-type endopeptidase activity | 1.53e-03 |
JAK1 | GO:0030099 | myeloid cell differentiation | 1.71e-03 |
JAK1 | GO:0034614 | cellular response to reactive oxygen species | 2.20e-03 |
JAK1 | GO:0010950 | positive regulation of endopeptidase activity | 2.20e-03 |
JAK1 | GO:0043281 | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 2.31e-03 |
JAK1 | GO:0031667 | response to nutrient levels | 2.31e-03 |
JAK1 | GO:0010952 | positive regulation of peptidase activity | 2.39e-03 |
JAK1 | GO:0009267 | cellular response to starvation | 2.61e-03 |
JAK1 | GO:0001936 | regulation of endothelial cell proliferation | 2.61e-03 |
JAK1 | GO:2000108 | positive regulation of leukocyte apoptotic process | 2.70e-03 |
JAK1 | GO:2000116 | regulation of cysteine-type endopeptidase activity | 2.97e-03 |
JAK1 | GO:0001935 | endothelial cell proliferation | 3.16e-03 |
JAK1 | GO:1902235 | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 3.32e-03 |
JAK1 | GO:0042594 | response to starvation | 3.65e-03 |
JAK1 | GO:0002573 | myeloid leukocyte differentiation | 4.40e-03 |
JAK1 | GO:0031669 | cellular response to nutrient levels | 5.15e-03 |
JAK1 | GO:0034599 | cellular response to oxidative stress | 5.21e-03 |
JAK1 | GO:0043122 | regulation of canonical NF-kappaB signal transduction | 5.52e-03 |
JAK1 | GO:0034976 | response to endoplasmic reticulum stress | 5.52e-03 |
JAK1 | GO:0042149 | cellular response to glucose starvation | 5.74e-03 |
JAK1 | GO:0051402 | neuron apoptotic process | 5.74e-03 |
JAK1 | GO:0034198 | cellular response to amino acid starvation | 5.74e-03 |
JAK1 | GO:0031668 | cellular response to extracellular stimulus | 5.74e-03 |
JAK1 | GO:0052548 | regulation of endopeptidase activity | 6.00e-03 |
JAK1 | GO:1990928 | response to amino acid starvation | 6.05e-03 |
JAK1 | GO:0007249 | canonical NF-kappaB signal transduction | 6.41e-03 |
JAK1 | GO:0070231 | T cell apoptotic process | 6.58e-03 |
JAK1 | GO:0071375 | cellular response to peptide hormone stimulus | 6.58e-03 |
JAK1 | GO:0052547 | regulation of peptidase activity | 6.58e-03 |
JAK1 | GO:0097300 | programmed necrotic cell death | 6.58e-03 |
JAK1 | GO:0097193 | intrinsic apoptotic signaling pathway | 6.79e-03 |
JAK1 | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 6.92e-03 |
JAK1 | GO:0030225 | macrophage differentiation | 6.99e-03 |
JAK1 | GO:0071496 | cellular response to external stimulus | 8.05e-03 |
JAK1 | GO:0045862 | positive regulation of proteolysis | 8.15e-03 |
JAK1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 9.23e-03 |
JAK1 | GO:1901653 | cellular response to peptide | 9.49e-03 |
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Related Drugs to JAK1_HSD11B1 |
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 JAK1-HSD11B1 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 JAK1_HSD11B1 |
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 |
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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 |