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Kinase Fusion Gene:BLK_CD99 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BLK_CD99 | KinaseFusionDB ID: KFG622 | FusionGDB2.0 ID: KFG622 | Hgene | Tgene | Gene symbol | BLK | CD99 | Gene ID | 640 | 4267 | |
| Gene name | BLK proto-oncogene, Src family tyrosine kinase | CD99 molecule (Xg blood group) | ||||||||||
| Synonyms | MODY11 | HBA71|MIC2|MIC2X|MIC2Y|MSK5X | ||||||||||
| Cytomap | 8p23.1 | X;Y | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | tyrosine-protein kinase BlkB lymphoid tyrosine kinaseBLK nonreceptor tyrosine kinaseb lymphocyte kinasep55-Blk | CD99 antigenE2 antigenMIC2 (monoclonal antibody 12E7)T-cell surface glycoprotein E2antigen identified by monoclonal 12E7, Y homologantigen identified by monoclonal antibodies 12E7, F21 and O13cell surface antigen 12E7cell surface antigen HBA-71cel | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | P51451 | Q8TCZ2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000259089, ENST00000529894, ENST00000525389, | ENST00000381192, ENST00000381187, ENST00000381184, ENST00000482405, ENST00000381180, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BLK [Title/Abstract] AND CD99 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | BLK | GO:0018108 | peptidyl-tyrosine phosphorylation | 30356214 |
| Hgene | BLK | GO:0050853 | B cell receptor signaling pathway | 876631 |
| Kinase Fusion gene breakpoints across BLK (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 CD99 (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 |
| CCLE | WSU-DLCL2 | BLK | chr8 | 11421665 | CD99 | chrX | 2638404 |
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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/:/:) - 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 |
| BLK | CD99 |
| FUNCTION: Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor (By similarity). Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207' (By similarity). Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C (PubMed:8756631). With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation (By similarity). Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation (By similarity). In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose (PubMed:19667185). Phosphorylates CGAS, promoting retention of CGAS in the cytosol (PubMed:30356214). {ECO:0000250|UniProtKB:P16277, ECO:0000269|PubMed:19667185, ECO:0000269|PubMed:30356214, ECO:0000269|PubMed:8756631}. | FUNCTION: Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity). {ECO:0000250}. |
| 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 BLK_CD99 |
| 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 |
| BLK | P51451 | human | FAM83A | Q86UY5 | Y138 | EKssAtVyFQtVKHN | FAM83 |
| BLK | P51451 | human | FCGR2A | P12318 | Y304 | tDDDKNIyLTLPPND | |
| BLK | P51451 | human | FCGR2B | P31994 | Y292 | GAENTITysLLMHPD | |
| BLK | P51451 | human | FCGR2A | P12318 | Y288 | yEtADGGyMtLNPRA | |
| BLK | P51451 | human | SOCS1 | O15524 | Y80 | LLDACGFyWGPLSVH | SH2 |
| BLK | P51451 | human | CGAS | Q8N884 | Y215 | LLNTGSYyEHVKIsA | Mab-21 |
| BLK | P51451 | human | FCGR2C | P31995 | Y310 | tDDDKNIyLTLPPND |
| 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 |
| BLK | ID | Description | 0.00e+00 |
| BLK | GO:0050863 | regulation of T cell activation | 4.05e-02 |
| BLK | GO:0002637 | regulation of immunoglobulin production | 4.05e-02 |
| BLK | GO:1902106 | negative regulation of leukocyte differentiation | 4.08e-02 |
| BLK | GO:1903707 | negative regulation of hemopoiesis | 4.08e-02 |
| BLK | GO:0050868 | negative regulation of T cell activation | 4.08e-02 |
| BLK | GO:1903038 | negative regulation of leukocyte cell-cell adhesion | 4.08e-02 |
| BLK | GO:0051250 | negative regulation of lymphocyte activation | 4.08e-02 |
| BLK | GO:0002700 | regulation of production of molecular mediator of immune response | 4.08e-02 |
| BLK | GO:0002377 | immunoglobulin production | 4.08e-02 |
| BLK | GO:0002695 | negative regulation of leukocyte activation | 4.08e-02 |
| BLK | GO:0022408 | negative regulation of cell-cell adhesion | 4.08e-02 |
| BLK | GO:0050777 | negative regulation of immune response | 4.08e-02 |
| BLK | GO:0050866 | negative regulation of cell activation | 4.08e-02 |
| BLK | GO:0001915 | negative regulation of T cell mediated cytotoxicity | 4.08e-02 |
| BLK | GO:0002883 | regulation of hypersensitivity | 4.08e-02 |
| BLK | GO:0010721 | negative regulation of cell development | 4.08e-02 |
| BLK | GO:0002604 | regulation of dendritic cell antigen processing and presentation | 4.08e-02 |
| BLK | GO:0002887 | negative regulation of myeloid leukocyte mediated immunity | 4.08e-02 |
| BLK | GO:0002924 | negative regulation of humoral immune response mediated by circulating immunoglobulin | 4.08e-02 |
| BLK | GO:0042532 | negative regulation of tyrosine phosphorylation of STAT protein | 4.08e-02 |
| BLK | GO:0007162 | negative regulation of cell adhesion | 4.08e-02 |
| BLK | GO:0002440 | production of molecular mediator of immune response | 4.08e-02 |
| BLK | GO:0002638 | negative regulation of immunoglobulin production | 4.08e-02 |
| BLK | GO:0002674 | negative regulation of acute inflammatory response | 4.08e-02 |
| BLK | GO:0043301 | negative regulation of leukocyte degranulation | 4.08e-02 |
| BLK | GO:1902950 | regulation of dendritic spine maintenance | 4.08e-02 |
| BLK | GO:2001198 | regulation of dendritic cell differentiation | 4.08e-02 |
| BLK | GO:0031348 | negative regulation of defense response | 4.08e-02 |
| BLK | GO:1902105 | regulation of leukocyte differentiation | 4.08e-02 |
| BLK | GO:0002524 | hypersensitivity | 4.08e-02 |
| BLK | GO:0002468 | dendritic cell antigen processing and presentation | 4.08e-02 |
| BLK | GO:0043374 | CD8-positiv | 4.76e-03 |
| BLK | GO:0002713 | negative regulation of B cell mediated immunity | 4.08e-02 |
| BLK | GO:0002864 | regulation of acute inflammatory response to antigenic stimulus | 4.08e-02 |
| BLK | GO:0002890 | negative regulation of immunoglobulin mediated immune response | 4.08e-02 |
| BLK | GO:0002921 | negative regulation of humoral immune response | 4.08e-02 |
| BLK | GO:0030889 | negative regulation of B cell proliferation | 4.08e-02 |
| BLK | GO:0071360 | cellular response to exogenous dsRNA | 4.08e-02 |
| BLK | GO:1901653 | cellular response to peptide | 4.08e-02 |
| BLK | GO:0002923 | regulation of humoral immune response mediated by circulating immunoglobulin | 4.08e-02 |
| BLK | GO:1903037 | regulation of leukocyte cell-cell adhesion | 4.08e-02 |
| BLK | GO:0002697 | regulation of immune effector process | 4.08e-02 |
| BLK | GO:0043031 | negative regulation of macrophage activation | 4.08e-02 |
| BLK | GO:2000774 | positive regulation of cellular senescence | 4.08e-02 |
| BLK | GO:0002577 | regulation of antigen processing and presentation | 4.08e-02 |
| BLK | GO:0050765 | negative regulation of phagocytosis | 4.08e-02 |
| BLK | GO:2001185 | regulation of CD8-positiv | 6.66e-03 |
| BLK | GO:0007159 | leukocyte cell-cell adhesion | 4.08e-02 |
| BLK | GO:0097062 | dendritic spine maintenance | 4.08e-02 |
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Related Drugs to BLK_CD99 |
| 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 BLK-CD99 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 BLK_CD99 |
| 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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