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Kinase Fusion Gene:KLC1_BTK |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: KLC1_BTK | KinaseFusionDB ID: KFG3050 | FusionGDB2.0 ID: KFG3050 | Hgene | Tgene | Gene symbol | KLC1 | BTK | Gene ID | 3831 | 695 | |
| Gene name | kinesin light chain 1 | Bruton tyrosine kinase | ||||||||||
| Synonyms | KLC|KNS2|KNS2A | AGMX1|AT|ATK|BPK|IGHD3|IMD1|PSCTK1|XLA | ||||||||||
| Cytomap | 14q32.33 | Xq22.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | kinesin light chain 1kinesin 2 60/70kDamedulloblastoma antigen MU-MB-2.50 | tyrosine-protein kinase BTKB-cell progenitor kinaseBruton agammaglobulinemia tyrosine kinaseBruton's tyrosine kinaseagammaglobulinaemia tyrosine kinasedominant-negative kinase-deficient Brutons tyrosine kinase | ||||||||||
| Modification date | 20240305 | 20240310 | ||||||||||
| UniProtAcc | Q07866 | Q06187 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000246489, ENST00000334553, ENST00000347839, ENST00000348520, ENST00000380038, ENST00000389744, ENST00000445352, ENST00000452929, ENST00000553286, ENST00000554280, ENST00000555836, ENST00000557450, ENST00000557575, | ENST00000464567, ENST00000308731, ENST00000372880, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: KLC1 [Title/Abstract] AND BTK [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KLC1(104129264)-BTK(100604944), # 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 |
| Tgene | BTK | GO:0018108 | peptidyl-tyrosine phosphorylation | 11606584|15509800 |
| Tgene | BTK | GO:0035556 | intracellular signal transduction | 11606584|15509800 |
| Tgene | BTK | GO:0050853 | B cell receptor signaling pathway | 15509800 |
| Tgene | BTK | GO:1900227 | positive regulation of NLRP3 inflammasome complex assembly | 34554188 |
| Kinase Fusion gene breakpoints across KLC1 (5'-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 breakpoints across BTK (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-KK-A59Z | KLC1 | chr14 | 104129264 | BTK | chrX | 100604944 |
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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/chr14:104129264/chrX:100604944) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLC1 | BTK |
| FUNCTION: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport (PubMed:21385839). The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity). {ECO:0000250|UniProtKB:P37285, ECO:0000269|PubMed:21385839}. | FUNCTION: Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling (PubMed:19290921). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (PubMed:19290921). After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members (PubMed:11606584). PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker protein BLNK (PubMed:11606584). BTK acts as a platform to bring together a diverse array of signaling proteins and is implicated in cytokine receptor signaling pathways (PubMed:16517732, PubMed:17932028). Plays an important role in the function of immune cells of innate as well as adaptive immunity, as a component of the Toll-like receptors (TLR) pathway (PubMed:16517732). The TLR pathway acts as a primary surveillance system for the detection of pathogens and are crucial to the activation of host defense (PubMed:16517732). Especially, is a critical molecule in regulating TLR9 activation in splenic B-cells (PubMed:16517732, PubMed:17932028). Within the TLR pathway, induces tyrosine phosphorylation of TIRAP which leads to TIRAP degradation (PubMed:16415872). BTK also plays a critical role in transcription regulation (PubMed:19290921). Induces the activity of NF-kappa-B, which is involved in regulating the expression of hundreds of genes (PubMed:19290921). BTK is involved on the signaling pathway linking TLR8 and TLR9 to NF-kappa-B (PubMed:19290921). Acts as an activator of NLRP3 inflammasome assembly by mediating phosphorylation of NLRP3 (PubMed:34554188). Transiently phosphorylates transcription factor GTF2I on tyrosine residues in response to BCR (PubMed:9012831). GTF2I then translocates to the nucleus to bind regulatory enhancer elements to modulate gene expression (PubMed:9012831). ARID3A and NFAT are other transcriptional target of BTK (PubMed:16738337). BTK is required for the formation of functional ARID3A DNA-binding complexes (PubMed:16738337). There is however no evidence that BTK itself binds directly to DNA (PubMed:16738337). BTK has a dual role in the regulation of apoptosis (PubMed:9751072). {ECO:0000269|PubMed:11606584, ECO:0000269|PubMed:16415872, ECO:0000269|PubMed:16517732, ECO:0000269|PubMed:16738337, ECO:0000269|PubMed:17932028, ECO:0000269|PubMed:34554188, ECO:0000269|PubMed:9012831, ECO:0000303|PubMed:19290921, ECO:0000303|PubMed:9751072}. |
| 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 KLC1_BTK |
| 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 |
| BTK | Q06187 | human | GTF2I | P78347-2 | Y248 | EESEDPDyyQyNIQG | |
| BTK | Q06187 | human | PLCG2 | P16885 | Y753 | ERDINSLyDVsRMyV | |
| BTK | Q06187 | human | TIRAP | P58753 | Y106 | AAQDLVSyLEGSTAS | TIR_2 |
| BTK | Q06187 | human | BMX | P51813 | Y216 | SSTSLAQyDSNSKKI | |
| BTK | Q06187 | human | IKZF1 | Q13422 | S214 | GRSYKQRssLEEHkE | zf-C2H2 |
| BTK | Q06187 | human | IKZF1 | Q13422 | S215 | RSYKQRssLEEHkER | zf-C2H2 |
| BTK | Q06187 | human | TIRAP | P58753 | Y86 | SSRWSKDyDVCVCHS | |
| BTK | Q06187 | human | TEC | P42680 | Y206 | RLERGQEyLILEKND | SH3_1 |
| BTK | Q06187 | human | GTF2I | P78347-2 | Y357 | QSHVEDLyVEGLPEG | GTF2I |
| BTK | Q06187 | human | NFKBIA | P25963 | Y305 | FtEDELPyDDCVFGG | |
| BTK | Q06187 | human | BTK | Q06187 | Y223 | LKKVVALyDyMPMNA | SH3_1 |
| BTK | Q06187 | human | ITK | Q08881 | Y180 | ETVVIALyDyQtNDP | SH3_1 |
| BTK | Q06187 | human | TIRAP | P58753 | Y187 | SGLSRAAyPPELRFM | TIR_2 |
| BTK | Q06187 | human | PLCG2 | P16885 | Y759 | LyDVsRMyVDPsEIN | |
| BTK | Q06187 | human | G3BP1 | Q13283 | Y40 | FYGkNSSyVHGGLDs | NTF2 |
| BTK | Q06187 | human | NFKBIA | P25963 | Y289 | EsEDEEsyDtEsEFT | |
| BTK | Q06187 | human | DDX41 | Q9UJV9 | Y414 | DVIQEVEyVkEEAKM | |
| BTK | Q06187 | human | GTF2I | P78347-2 | Y462 | EAHPNDLyVEGLPEN | GTF2I |
| BTK | Q06187 | human | BTK | Q06187 | Y551 | RYVLDDEytsSVGSk | PK_Tyr_Ser-Thr |
| BTK | Q06187 | human | TP53 | P04637 | S15 | PsVEPPLsQEtFsDL | P53_TAD |
| BTK | Q06187 | human | PLCG2 | P16885 | Y1217 | LNNQLFLyDtHQNLR |
| 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 |
| BTK | ID | Description | 0.00e+00 |
| BTK | GO:0050853 | B cell receptor signaling pathway | 2.87e-09 |
| BTK | GO:0002429 | immune response-activating cell surface receptor signaling pathway | 1.11e-07 |
| BTK | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 1.34e-07 |
| BTK | GO:0050851 | antigen receptor-mediated signaling pathway | 2.79e-07 |
| BTK | GO:0002757 | immune response-activating signaling pathway | 7.07e-07 |
| BTK | GO:0002764 | immune response-regulating signaling pathway | 8.65e-07 |
| BTK | GO:0071216 | cellular response to biotic stimulus | 4.59e-05 |
| BTK | GO:0050852 | T cell receptor signaling pathway | 1.51e-04 |
| BTK | GO:0002753 | cytosolic pattern recognition receptor signaling pathway | 1.51e-04 |
| BTK | GO:0030098 | lymphocyte differentiation | 3.44e-04 |
| BTK | GO:0031334 | positive regulation of protein-containing complex assembly | 4.14e-04 |
| BTK | GO:1903131 | mononuclear cell differentiation | 5.02e-04 |
| BTK | GO:0062208 | positive regulation of pattern recognition receptor signaling pathway | 5.14e-04 |
| BTK | GO:0001819 | positive regulation of cytokine production | 5.14e-04 |
| BTK | GO:0002221 | pattern recognition receptor signaling pathway | 6.08e-04 |
| BTK | GO:0002224 | toll-like receptor signaling pathway | 6.49e-04 |
| BTK | GO:0002758 | innate immune response-activating signaling pathway | 7.28e-04 |
| BTK | GO:0002218 | activation of innate immune response | 9.15e-04 |
| BTK | GO:0042113 | B cell activation | 9.15e-04 |
| BTK | GO:0002220 | innate immune response activating cell surface receptor signaling pathway | 9.67e-04 |
| BTK | GO:0039531 | regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway | 9.83e-04 |
| BTK | GO:0007249 | canonical NF-kappaB signal transduction | 1.07e-03 |
| BTK | GO:0032755 | positive regulation of interleukin-6 production | 1.15e-03 |
| BTK | GO:0032760 | positive regulation of tumor necrosis factor production | 1.27e-03 |
| BTK | GO:1903557 | positive regulation of tumor necrosis factor superfamily cytokine production | 1.36e-03 |
| BTK | GO:0045089 | positive regulation of innate immune response | 1.52e-03 |
| BTK | GO:0032496 | response to lipopolysaccharide | 1.55e-03 |
| BTK | GO:0030522 | intracellular receptor signaling pathway | 1.58e-03 |
| BTK | GO:0032479 | regulation of type I interferon production | 1.59e-03 |
| BTK | GO:0032606 | type I interferon production | 1.59e-03 |
| BTK | GO:0002237 | response to molecule of bacterial origin | 1.64e-03 |
| BTK | GO:0002833 | positive regulation of response to biotic stimulus | 1.64e-03 |
| BTK | GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | 1.72e-03 |
| BTK | GO:1900227 | positive regulation of NLRP3 inflammasome complex assembly | 1.72e-03 |
| BTK | GO:0007498 | mesoderm development | 1.80e-03 |
| BTK | GO:0141087 | positive regulation of inflammasome-mediated signaling pathway | 1.80e-03 |
| BTK | GO:0051090 | regulation of DNA-binding transcription factor activity | 2.04e-03 |
| BTK | GO:0062207 | regulation of pattern recognition receptor signaling pathway | 2.04e-03 |
| BTK | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 2.10e-03 |
| BTK | GO:0043254 | regulation of protein-containing complex assembly | 2.10e-03 |
| BTK | GO:0050729 | positive regulation of inflammatory response | 2.10e-03 |
| BTK | GO:0045088 | regulation of innate immune response | 2.10e-03 |
| BTK | GO:0030183 | B cell differentiation | 2.10e-03 |
| BTK | GO:0038095 | Fc-epsilon receptor signaling pathway | 2.10e-03 |
| BTK | GO:0032635 | interleukin-6 production | 3.05e-03 |
| BTK | GO:0032675 | regulation of interleukin-6 production | 3.05e-03 |
| BTK | GO:0031349 | positive regulation of defense response | 3.09e-03 |
| BTK | GO:0032640 | tumor necrosis factor production | 3.31e-03 |
| BTK | GO:0032680 | regulation of tumor necrosis factor production | 3.31e-03 |
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Related Drugs to KLC1_BTK |
| 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 KLC1-BTK 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 KLC1_BTK |
| 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 |
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