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Kinase Fusion Gene:BCR_HIC2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BCR_HIC2 | KinaseFusionDB ID: KFG595 | FusionGDB2.0 ID: KFG595 | Hgene | Tgene | Gene symbol | BCR | HIC2 | Gene ID | 613 | 23119 | |
| Gene name | BCR activator of RhoGEF and GTPase | HIC ZBTB transcriptional repressor 2 | ||||||||||
| Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | HRG22|ZBTB30|ZNF907 | ||||||||||
| Cytomap | 22q11.23 | 22q11.21 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | breakpoint cluster region proteinBCR, RhoGEF and GTPase activating proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | hypermethylated in cancer 2 proteinHIC1-related gene on chromosome 22 proteinhic-2hic-3zinc finger and BTB domain-containing protein 30 | ||||||||||
| Modification date | 20240416 | 20240407 | ||||||||||
| UniProtAcc | P11274 | Q96JB3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ENST00000407464, ENST00000407598, ENST00000443632, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BCR [Title/Abstract] AND HIC2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BCR(23524426)-HIC2(21797048), # samples:2 | |||||||||||
| 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 | BCR | GO:0090630 | activation of GTPase activity | 7479768 |
| Kinase Fusion gene breakpoints across BCR (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 HIC2 (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-NA-A4QY-01A | BCR | chr22 | 23524426 | HIC2 | chr22 | 21797048 |
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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/:23524426/:21797048) - 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 |
| BCR | HIC2 |
| FUNCTION: Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768, PubMed:23940119). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119). {ECO:0000250|UniProtKB:Q6PAJ1, ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:17116687, ECO:0000269|PubMed:1903516, ECO:0000269|PubMed:23940119, ECO:0000269|PubMed:7479768}. | FUNCTION: Transcriptional repressor. |
| 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 BCR_HIC2 |
| 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 |
| BCR | P11274 | human | YWHAQ | P27348 | S232 | LTLWtsDsAGEECDA | |
| BCR | P11274 | human | YWHAZ | P63104 | T232 | LTLWtsDtQGDEAEA | |
| BCR | P11274 | human | AFDN | P55196 | T909 | VVTVAENtADELARS |
| 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 |
| BCR | ID | Description | 0.00e+00 |
| BCR | GO:0007265 | Ras protein signal transduction | 4.45e-04 |
| BCR | GO:2000404 | regulation of T cell migration | 8.95e-04 |
| BCR | GO:0007264 | small GTPase mediated signal transduction | 8.95e-04 |
| BCR | GO:0002685 | regulation of leukocyte migration | 1.08e-03 |
| BCR | GO:2000401 | regulation of lymphocyte migration | 1.11e-03 |
| BCR | GO:0072678 | T cell migration | 1.11e-03 |
| BCR | GO:0048041 | focal adhesion assembly | 1.50e-03 |
| BCR | GO:0007044 | cell-substrate junction assembly | 1.54e-03 |
| BCR | GO:0034446 | substrate adhesion-dependent cell spreading | 1.54e-03 |
| BCR | GO:0150115 | cell-substrate junction organization | 1.54e-03 |
| BCR | GO:0032956 | regulation of actin cytoskeleton organization | 1.54e-03 |
| BCR | GO:0110020 | regulation of actomyosin structure organization | 1.54e-03 |
| BCR | GO:1905244 | regulation of modification of synaptic structure | 1.54e-03 |
| BCR | GO:0031589 | cell-substrate adhesion | 1.74e-03 |
| BCR | GO:0003188 | heart valve formation | 1.81e-03 |
| BCR | GO:0032970 | regulation of actin filament-based process | 1.81e-03 |
| BCR | GO:0072676 | lymphocyte migration | 1.81e-03 |
| BCR | GO:0071675 | regulation of mononuclear cell migration | 1.81e-03 |
| BCR | GO:1902903 | regulation of supramolecular fiber organization | 1.81e-03 |
| BCR | GO:0050900 | leukocyte migration | 1.84e-03 |
| BCR | GO:0007266 | Rho protein signal transduction | 2.09e-03 |
| BCR | GO:2000377 | regulation of reactive oxygen species metabolic process | 2.47e-03 |
| BCR | GO:0034329 | cell junction assembly | 2.55e-03 |
| BCR | GO:0030010 | establishment of cell polarity | 2.70e-03 |
| BCR | GO:0006312 | mitotic recombination | 3.06e-03 |
| BCR | GO:0000724 | double-strand break repair via homologous recombination | 3.36e-03 |
| BCR | GO:1902905 | positive regulation of supramolecular fiber organization | 3.36e-03 |
| BCR | GO:0099563 | modification of synaptic structure | 3.36e-03 |
| BCR | GO:0000725 | recombinational repair | 3.36e-03 |
| BCR | GO:0051495 | positive regulation of cytoskeleton organization | 3.52e-03 |
| BCR | GO:0061138 | morphogenesis of a branching epithelium | 3.58e-03 |
| BCR | GO:0042770 | signal transduction in response to DNA damage | 3.58e-03 |
| BCR | GO:0033688 | regulation of osteoblast proliferation | 3.59e-03 |
| BCR | GO:0045907 | positive regulation of vasoconstriction | 3.71e-03 |
| BCR | GO:0001763 | morphogenesis of a branching structure | 3.90e-03 |
| BCR | GO:0050851 | antigen receptor-mediated signaling pathway | 3.90e-03 |
| BCR | GO:0071674 | mononuclear cell migration | 3.90e-03 |
| BCR | GO:2000406 | positive regulation of T cell migration | 3.90e-03 |
| BCR | GO:0031032 | actomyosin structure organization | 3.90e-03 |
| BCR | GO:0033687 | osteoblast proliferation | 4.01e-03 |
| BCR | GO:0006282 | regulation of DNA repair | 4.09e-03 |
| BCR | GO:0010810 | regulation of cell-substrate adhesion | 4.27e-03 |
| BCR | GO:0071222 | cellular response to lipopolysaccharide | 4.52e-03 |
| BCR | GO:0007163 | establishment or maintenance of cell polarity | 4.53e-03 |
| BCR | GO:0072593 | reactive oxygen species metabolic process | 4.65e-03 |
| BCR | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 4.65e-03 |
| BCR | GO:2000403 | positive regulation of lymphocyte migration | 4.65e-03 |
| BCR | GO:0007160 | cell-matrix adhesion | 4.67e-03 |
| BCR | GO:0071219 | cellular response to molecule of bacterial origin | 4.67e-03 |
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Related Drugs to BCR_HIC2 |
| 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 BCR-HIC2 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 BCR_HIC2 |
| 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 |
| Hgene | BCR | C0005586 | Bipolar Disorder | 4 | PSYGENET |
| Hgene | BCR | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;ORPHANET |
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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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