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Kinase Fusion Gene:OXSR1_CALR |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: OXSR1_CALR | KinaseFusionDB ID: KFG4374 | FusionGDB2.0 ID: KFG4374 | Hgene | Tgene | Gene symbol | OXSR1 | CALR | Gene ID | 9943 | 811 | |
Gene name | oxidative stress responsive kinase 1 | calreticulin | ||||||||||
Synonyms | OSR1 | CALR1|CRT|HEL-S-99n|RO|SSA|cC1qR | ||||||||||
Cytomap | 3p22.2 | 19p13.13 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | serine/threonine-protein kinase OSR1oxidative stress responsive 1oxidative stress-responsive 1 protein | calreticulinCRP55ERp60HACBPSicca syndrome antigen A (autoantigen Ro; calreticulin)calregulinendoplasmic reticulum resident protein 60epididymis secretory sperm binding protein Li 99ngrp60 | ||||||||||
Modification date | 20240403 | 20240416 | ||||||||||
UniProtAcc | O95747 | P27797 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000311806, ENST00000446845, ENST00000492714, | ENST00000316448, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: OXSR1 [Title/Abstract] AND CALR [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | OXSR1(38284244)-CALR(13051124), # samples:1 |
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 | OXSR1 | GO:0006468 | protein phosphorylation | 14707132 |
Hgene | OXSR1 | GO:0006884 | cell volume homeostasis | 36318922 |
Hgene | OXSR1 | GO:0018107 | peptidyl-threonine phosphorylation | 24393035 |
Hgene | OXSR1 | GO:0035556 | intracellular signal transduction | 14707132 |
Hgene | OXSR1 | GO:0046777 | protein autophosphorylation | 22052202 |
Hgene | OXSR1 | GO:0070294 | renal sodium ion absorption | 18270262 |
Hgene | OXSR1 | GO:0071474 | cellular hyperosmotic response | 36318922 |
Tgene | CALR | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8107809 |
Tgene | CALR | GO:0002502 | peptide antigen assembly with MHC class I protein complex | 35948544 |
Tgene | CALR | GO:0006611 | protein export from nucleus | 11149926 |
Tgene | CALR | GO:0017148 | negative regulation of translation | 14726956 |
Tgene | CALR | GO:0033144 | negative regulation of intracellular steroid hormone receptor signaling pathway | 8107809 |
Tgene | CALR | GO:0034504 | protein localization to nucleus | 15998798 |
Tgene | CALR | GO:0045665 | negative regulation of neuron differentiation | 8107809 |
Tgene | CALR | GO:0045892 | negative regulation of DNA-templated transcription | 8107809 |
Tgene | CALR | GO:0048387 | negative regulation of retinoic acid receptor signaling pathway | 8107809 |
Kinase Fusion gene breakpoints across OXSR1 (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 CALR (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 |
ChiTaRS5.0 | BE005287 | OXSR1 | chr3 | 38284244 | CALR | chr19 | 13051124 |
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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/chr3:38284244/chr19:13051124) - 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 |
OXSR1 | CALR |
FUNCTION: Effector serine/threonine-protein kinase component of the WNK-SPAK/OSR1 kinase cascade, which is involved in various processes, such as ion transport, response to hypertonic stress and blood pressure (PubMed:16669787, PubMed:18270262, PubMed:21321328, PubMed:34289367). Specifically recognizes and binds proteins with a RFXV motif (PubMed:16669787, PubMed:21321328, PubMed:17721439). Acts downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4): following activation by WNK kinases, catalyzes phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:17721439). Mediates regulatory volume increase in response to hyperosmotic stress by catalyzing phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1 and SLC12A6/KCC3 downstream of WNK1 and WNK3 kinases (PubMed:16669787, PubMed:21321328). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux (PubMed:16669787, PubMed:19665974, PubMed:21321328). Acts as a regulator of NaCl reabsorption in the distal nephron by mediating phosphorylation and activation of the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney downstream of WNK4 (PubMed:18270262). Also acts as a regulator of angiogenesis in endothelial cells downstream of WNK1 (PubMed:23386621, PubMed:25362046). Acts as an activator of inward rectifier potassium channels KCNJ2/Kir2.1 and KCNJ4/Kir2.3 downstream of WNK1: recognizes and binds the RXFXV/I variant motif on KCNJ2/Kir2.1 and KCNJ4/Kir2.3 and regulates their localization to the cell membrane without mediating their phosphorylation (PubMed:29581290). Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202). {ECO:0000269|PubMed:14707132, ECO:0000269|PubMed:16389068, ECO:0000269|PubMed:16669787, ECO:0000269|PubMed:17721439, ECO:0000269|PubMed:18270262, ECO:0000269|PubMed:19665974, ECO:0000269|PubMed:21321328, ECO:0000269|PubMed:22052202, ECO:0000269|PubMed:23386621, ECO:0000269|PubMed:25362046, ECO:0000269|PubMed:28688764, ECO:0000269|PubMed:29581290, ECO:0000269|PubMed:34289367}. | FUNCTION: Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER (PubMed:7876246). Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export (PubMed:11149926). Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity). Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and might participate in the block to polyspermy (By similarity). {ECO:0000250|UniProtKB:P28491, ECO:0000250|UniProtKB:Q8K3H7, ECO:0000269|PubMed:11149926, ECO:0000269|PubMed:7876246}. |
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 OXSR1_CALR |
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 |
OXSR1 | O95747 | human | SLC12A1 | Q13621 | T105 | LQtFGHNtMDAVPKI | AA_permease_N |
OXSR1 | O95747 | human | SLC12A2 | P55011 | T207 | YYDtHTNtyYLRtFG | AA_permease_N |
OXSR1 | O95747 | human | SLC12A1 | Q13621 | T118 | KIEYYRNtGsISGPK | AA_permease_N |
OXSR1 | O95747 | human | MAPT | P10636-8 | S324 | kVTskCGsLGNIHHk | Tubulin-binding |
OXSR1 | O95747 | human | SLC12A3 | P55017 | T60 | MRtFGYNtIDVVPtY | AA_permease_N |
OXSR1 | O95747 | human | SLC12A3 | P55017 | S73 | tYEHyANstQPGEPR | AA_permease_N |
OXSR1 | O95747 | human | SMAD3 | P84022 | T179 | PQSNIPEtPPPGYLS | |
OXSR1 | O95747 | human | SLC12A2 | P55011 | T212 | TNtyYLRtFGHNtMD | AA_permease_N |
OXSR1 | O95747 | human | SLC12A2 | P55011 | T230 | RIDHyRHtAAQLGEk | AA_permease_N |
OXSR1 | O95747 | human | SLC12A2 | P55011 | T203 | HQHYYYDtHTNtyYL | AA_permease_N |
OXSR1 | O95747 | human | SLC12A1 | Q13621 | S120 | EYYRNtGsISGPKVN | AA_permease_N |
OXSR1 | O95747 | human | SLC12A1 | Q13621 | T95 | AYDsHTNtYYLQtFG | AA_permease_N |
OXSR1 | O95747 | human | MAPT | P10636-8 | T30 | RKDQGGytMHQDQEG | |
OXSR1 | O95747 | human | SLC12A1 | Q13621 | T100 | TNtYYLQtFGHNtMD | AA_permease_N |
OXSR1 | O95747 | human | SLC12A3 | P55017 | T46 | SSHPSHLtHSStFCM | AA_permease_N |
OXSR1 | O95747 | human | SLC12A3 | P55017 | T55 | SStFCMRtFGYNtID | AA_permease_N |
OXSR1 | O95747 | human | SMAD2 | Q15796 | T220 | QSNYIPEtPPPGYIS | |
OXSR1 | O95747 | human | SLC12A2 | P55011 | T217 | LRtFGHNtMDAVPRI | AA_permease_N |
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 |
OXSR1 | ID | Description | 0.00e+00 |
OXSR1 | GO:0055064 | chloride ion homeostasis | 6.72e-06 |
OXSR1 | GO:0055081 | monoatomic anion homeostasis | 6.72e-06 |
OXSR1 | GO:0055075 | potassium ion homeostasis | 1.56e-05 |
OXSR1 | GO:0006884 | cell volume homeostasis | 1.56e-05 |
OXSR1 | GO:0008361 | regulation of cell size | 1.56e-05 |
OXSR1 | GO:0055078 | sodium ion homeostasis | 2.19e-05 |
OXSR1 | GO:1990573 | potassium ion import across plasma membrane | 2.19e-05 |
OXSR1 | GO:0032535 | regulation of cellular component size | 1.50e-04 |
OXSR1 | GO:0007440 | foregut morphogenesis | 1.96e-04 |
OXSR1 | GO:0048340 | paraxial mesoderm morphogenesis | 1.96e-04 |
OXSR1 | GO:1902476 | chloride transmembrane transport | 1.96e-04 |
OXSR1 | GO:0006821 | chloride transport | 2.64e-04 |
OXSR1 | GO:0098661 | inorganic anion transmembrane transport | 2.79e-04 |
OXSR1 | GO:0098659 | inorganic cation import across plasma membrane | 2.79e-04 |
OXSR1 | GO:0099587 | inorganic ion import across plasma membrane | 2.79e-04 |
OXSR1 | GO:0098656 | monoatomic anion transmembrane transport | 3.23e-04 |
OXSR1 | GO:0048339 | paraxial mesoderm development | 4.12e-04 |
OXSR1 | GO:0015698 | inorganic anion transport | 4.12e-04 |
OXSR1 | GO:0060039 | pericardium development | 4.12e-04 |
OXSR1 | GO:0006820 | monoatomic anion transport | 4.12e-04 |
OXSR1 | GO:0031053 | primary miRNA processing | 4.12e-04 |
OXSR1 | GO:0038092 | nodal signaling pathway | 4.12e-04 |
OXSR1 | GO:0035725 | sodium ion transmembrane transport | 4.12e-04 |
OXSR1 | GO:0023019 | signal transduction involved in regulation of gene expression | 4.59e-04 |
OXSR1 | GO:0098739 | import across plasma membrane | 6.19e-04 |
OXSR1 | GO:0071805 | potassium ion transmembrane transport | 6.38e-04 |
OXSR1 | GO:0030325 | adrenal gland development | 6.66e-04 |
OXSR1 | GO:0006813 | potassium ion transport | 8.10e-04 |
OXSR1 | GO:0006814 | sodium ion transport | 8.52e-04 |
OXSR1 | GO:0048701 | embryonic cranial skeleton morphogenesis | 1.57e-03 |
OXSR1 | GO:0035196 | miRNA processing | 1.66e-03 |
OXSR1 | GO:0032924 | activin receptor signaling pathway | 1.69e-03 |
OXSR1 | GO:0048546 | digestive tract morphogenesis | 1.69e-03 |
OXSR1 | GO:0072132 | mesenchyme morphogenesis | 2.23e-03 |
OXSR1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 2.32e-03 |
OXSR1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 2.99e-03 |
OXSR1 | GO:1904888 | cranial skeletal system development | 3.27e-03 |
OXSR1 | GO:0009880 | embryonic pattern specification | 3.28e-03 |
OXSR1 | GO:0001707 | mesoderm formation | 3.28e-03 |
OXSR1 | GO:0061045 | negative regulation of wound healing | 3.28e-03 |
OXSR1 | GO:0048332 | mesoderm morphogenesis | 3.37e-03 |
OXSR1 | GO:0007492 | endoderm development | 3.83e-03 |
OXSR1 | GO:0060395 | SMAD protein signal transduction | 3.83e-03 |
OXSR1 | GO:0070918 | regulatory ncRNA processing | 3.92e-03 |
OXSR1 | GO:0048704 | embryonic skeletal system morphogenesis | 4.58e-03 |
OXSR1 | GO:1903035 | negative regulation of response to wounding | 4.67e-03 |
OXSR1 | GO:0001657 | ureteric bud development | 4.67e-03 |
OXSR1 | GO:0072163 | mesonephric epithelium development | 4.67e-03 |
OXSR1 | GO:0072164 | mesonephric tubule development | 4.67e-03 |
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Related Drugs to OXSR1_CALR |
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 OXSR1-CALR 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 OXSR1_CALR |
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 |