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Kinase Fusion Gene:RCC1_STK3 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: RCC1_STK3 | KinaseFusionDB ID: KFG5331 | FusionGDB2.0 ID: KFG5331 | Hgene | Tgene | Gene symbol | RCC1 | STK3 | Gene ID | 1104 | 8428 | |
Gene name | regulator of chromosome condensation 1 | serine/threonine kinase 24 | ||||||||||
Synonyms | CHC1|RCC1-I | HEL-S-95|MST3|MST3B|STE20|STK3 | ||||||||||
Cytomap | 1p35.3 | 13q32.2 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | regulator of chromosome condensationcell cycle regulatory proteinguanine nucleotide-releasing protein | serine/threonine-protein kinase 24STE20-like kinase 3STE20-like kinase MST3epididymis secretory protein Li 95mammalian STE20-like protein kinase 3serine/threonine kinase 24 (STE20 homolog, yeast)sterile 20-like kinase 3 | ||||||||||
Modification date | 20240407 | 20240411 | ||||||||||
UniProtAcc | P18754 | Q9UEW8 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000373833, ENST00000398958, ENST00000373831, ENST00000373832, ENST00000429051, | ENST00000419617, ENST00000523601, ENST00000521768, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RCC1 [Title/Abstract] AND STK3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RCC1(28834673)-STK3(99539146), # 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 | RCC1 | GO:0007052 | mitotic spindle organization | 15014043 |
Hgene | RCC1 | GO:0007088 | regulation of mitotic nuclear division | 15014043 |
Tgene | STK3 | GO:0006468 | protein phosphorylation | 19604147 |
Tgene | STK3 | GO:0034599 | cellular response to oxidative stress | 22291017 |
Tgene | STK3 | GO:0046777 | protein autophosphorylation | 17046825|17657516 |
Kinase Fusion gene breakpoints across RCC1 (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 STK3 (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 | CN419802 | RCC1 | chr1 | 28834673 | STK3 | chr8 | 99539146 |
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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/:28834673/:99539146) - 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 |
RCC1 | STK3 |
FUNCTION: Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580). {ECO:0000269|PubMed:11336674, ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580, ECO:0000269|PubMed:1944575, ECO:0000269|PubMed:20668449, ECO:0000269|PubMed:22215983, ECO:0000269|PubMed:3678831}. | 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). 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:21321328). 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:12740379, 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). Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities (By similarity). Phosphorylates RELT (By similarity). {ECO:0000250|UniProtKB:Q9Z1W9, ECO:0000269|PubMed:12740379, ECO:0000269|PubMed:16669787, ECO:0000269|PubMed:18270262, ECO:0000269|PubMed:19665974, ECO:0000269|PubMed:21321328, ECO:0000269|PubMed:34289367}. |
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 RCC1_STK3 |
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 |
STK3 | Q13188 | human | NR3C1 | P04150 | S682 | VPkDGLksQELFDEI | Hormone_recep |
STK3 | Q13188 | human | PRKCA | P17252 | S226 | LNPQWNEsFtFkLKP | C2 |
STK3 | Q13188 | human | ABL1 | P00519 | T735 | DTEWRSVtLPRDLQS | |
STK3 | Q13188 | human | MOB1B | Q7L9L4 | T74 | QINMLYGtITDFCTE | Mob1_phocein |
STK3 | Q13188 | human | SAV1 | Q9H4B6 | S36 | LLRNLMPsFIRHGPT | |
STK3 | Q13188 | human | NR3C1 | P04150 | T562 | StWRIMTtLNMLGGR | Hormone_recep |
STK3 | Q13188 | human | MOB1A | Q9H8S9 | T35 | LLkHAEAtLGsGNLR | Mob1_phocein |
STK3 | Q13188 | human | OBSCN | Q5VST9 | T5798 | AESVVVStAIQEFYK | |
STK3 | Q13188 | human | NEK2 | P51955 | S406 | NsEsQLtsksKCKDL | |
STK3 | Q13188 | human | MOB1A | Q9H8S9 | T12 | FsSRssktFKPkkNI | |
STK3 | Q13188 | human | LATS1 | O95835 | S909 | HQRCLAHsLVGTPNY | Pkinase |
STK3 | Q13188 | human | PRKAA1 | Q13131 | T183 | sDGEFLRtsCGsPNy | Pkinase |
STK3 | Q13188 | human | PRKCA | P17252 | T228 | PQWNEsFtFkLKPsD | C2 |
STK3 | Q13188 | human | SAV1 | Q9H4B6 | S269 | YRHPCAPsVPRyDQP | |
STK3 | Q13188 | human | STK3 | Q13188 | T378 | DEEEEDGtMKRNAts | |
STK3 | Q13188 | human | SAV1 | Q9H4B6 | T26 | GKYVKKEtsPLLRNL | |
STK3 | Q13188 | human | NR3C1 | P04150 | T668 | EEYLCMKtLLLLSSV | Hormone_recep |
STK3 | Q13188 | human | LATS1 | O95835 | T967 | MKVINWQtSLHIPPQ | Pkinase |
STK3 | Q13188 | human | YAP1 | P46937 | S127 | PQHVRAHssPAsLQL | |
STK3 | Q13188 | human | SAV1 | Q9H4B6 | S27 | KYVKKEtsPLLRNLM | |
STK3 | Q13188 | human | LATS1 | O95835 | T1079 | EHAFyEFtFRRFFDD | |
STK3 | Q13188 | human | NEK2 | P51955 | S365 | LkERkFLsLASNPEL | |
STK3 | Q13188 | human | STAT3 | P40763 | T622 | kEGGVTFtWVEkDIS | SH2 |
STK3 | Q13188 | human | LATS1 | O95835 | T1060 | EEENVNDtLNGWYKN | |
STK3 | Q13188 | human | MOB1A | Q9H8S9 | T74 | QINMLYGtITEFCTE | Mob1_phocein |
STK3 | Q13188 | human | NEK2 | P51955 | S356 | ENLLkNYsLLkERkF | |
STK3 | Q13188 | human | NR3C1 | P04150 | S746 | TFLDKTMsIEFPEML | |
STK3 | Q13188 | human | MAP1LC3B | Q9GZQ8 | T50 | QLPVLDktkFLVPDH | ATG8 |
STK3 | Q13188 | human | MOB1B | Q7L9L4 | T35 | LLkHAEAtLGsGNLR | Mob1_phocein |
STK3 | Q13188 | human | STK3 | Q13188 | T180 | DtMAkRNtVIGTPFW | Pkinase |
STK3 | Q13188 | human | SIK3 | Q9Y2K2 | T221 | TPGQLLKtWCGSPPY | Pkinase |
STK3 | Q13188 | human | LATS1 | O95835 | T1012 | kAHPFFKtIDFSSDL | |
STK3 | Q13188 | human | LATS1 | O95835 | S872 | GDHPRQDsMDFSNEW | Pkinase |
STK3 | Q13188 | human | NEK2 | P51955 | S438 | EkNYQLksRQILGMR | |
STK3 | Q13188 | human | MOB1B | Q7L9L4 | T12 | FGsRssktFKPkkNI |
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 |
STK3 | ID | Description | 0.00e+00 |
STK3 | GO:0035329 | hippo signaling | 6.70e-10 |
STK3 | GO:1904019 | epithelial cell apoptotic process | 4.11e-05 |
STK3 | GO:0048638 | regulation of developmental growth | 4.65e-05 |
STK3 | GO:0035265 | organ growth | 5.76e-05 |
STK3 | GO:0046620 | regulation of organ growth | 2.25e-04 |
STK3 | GO:1904035 | regulation of epithelial cell apoptotic process | 3.18e-04 |
STK3 | GO:0050678 | regulation of epithelial cell proliferation | 1.94e-03 |
STK3 | GO:0060038 | cardiac muscle cell proliferation | 1.94e-03 |
STK3 | GO:1904036 | negative regulation of epithelial cell apoptotic process | 2.21e-03 |
STK3 | GO:0016055 | Wnt signaling pathway | 2.29e-03 |
STK3 | GO:0198738 | cell-cell signaling by wnt | 2.29e-03 |
STK3 | GO:0050673 | epithelial cell proliferation | 2.55e-03 |
STK3 | GO:2000736 | regulation of stem cell differentiation | 2.77e-03 |
STK3 | GO:0014855 | striated muscle cell proliferation | 3.10e-03 |
STK3 | GO:0048708 | astrocyte differentiation | 3.33e-03 |
STK3 | GO:0055017 | cardiac muscle tissue growth | 3.34e-03 |
STK3 | GO:0060419 | heart growth | 4.07e-03 |
STK3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 4.20e-03 |
STK3 | GO:0071559 | response to transforming growth factor beta | 4.31e-03 |
STK3 | GO:0034504 | protein localization to nucleus | 5.10e-03 |
STK3 | GO:0001824 | blastocyst development | 5.61e-03 |
STK3 | GO:0060562 | epithelial tube morphogenesis | 5.70e-03 |
STK3 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 5.70e-03 |
STK3 | GO:0002065 | columnar/cuboidal epithelial cell differentiation | 5.70e-03 |
STK3 | GO:0030111 | regulation of Wnt signaling pathway | 5.70e-03 |
STK3 | GO:0097284 | hepatocyte apoptotic process | 5.70e-03 |
STK3 | GO:0030522 | intracellular receptor signaling pathway | 6.24e-03 |
STK3 | GO:0061744 | motor behavior | 6.37e-03 |
STK3 | GO:0043401 | steroid hormone mediated signaling pathway | 6.80e-03 |
STK3 | GO:0070102 | interleukin-6-mediated signaling pathway | 7.27e-03 |
STK3 | GO:2000737 | negative regulation of stem cell differentiation | 7.27e-03 |
STK3 | GO:0045598 | regulation of fat cell differentiation | 7.27e-03 |
STK3 | GO:0001701 | in utero embryonic development | 7.39e-03 |
STK3 | GO:0060479 | lung cell differentiation | 7.39e-03 |
STK3 | GO:0060487 | lung epithelial cell differentiation | 7.39e-03 |
STK3 | GO:0060575 | intestinal epithelial cell differentiation | 7.39e-03 |
STK3 | GO:0060537 | muscle tissue development | 9.96e-03 |
STK3 | GO:0030216 | keratinocyte differentiation | 1.07e-02 |
STK3 | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway | 1.07e-02 |
STK3 | GO:0019827 | stem cell population maintenance | 1.09e-02 |
STK3 | GO:0046621 | negative regulation of organ growth | 1.09e-02 |
STK3 | GO:0045766 | positive regulation of angiogenesis | 1.09e-02 |
STK3 | GO:1904018 | positive regulation of vasculature development | 1.09e-02 |
STK3 | GO:0098727 | maintenance of cell number | 1.09e-02 |
STK3 | GO:0006109 | regulation of carbohydrate metabolic process | 1.09e-02 |
STK3 | GO:0009755 | hormone-mediated signaling pathway | 1.15e-02 |
STK3 | GO:0071354 | cellular response to interleukin-6 | 1.16e-02 |
STK3 | GO:0046777 | protein autophosphorylation | 1.20e-02 |
STK3 | GO:0071383 | cellular response to steroid hormone stimulus | 1.27e-02 |
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Related Drugs to RCC1_STK3 |
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 RCC1-STK3 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 RCC1_STK3 |
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 |