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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:BCR-MYH11 (FusionGDB2 ID:HG613TG4629) |
Fusion Gene Summary for BCR-MYH11 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCR-MYH11 | Fusion gene ID: hg613tg4629 | Hgene | Tgene | Gene symbol | BCR | MYH11 | Gene ID | 613 | 4629 |
| Gene name | BCR activator of RhoGEF and GTPase | myosin heavy chain 11 | |
| Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | AAT4|FAA4|SMHC|SMMHC | |
| Cytomap | ('BCR')('MYH11') 22q11.23 | 16p13.11 | |
| 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 | myosin-11epididymis secretory sperm binding proteinmyosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscle | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | P11274 | P35749 | |
| Ensembl transtripts involved in fusion gene | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ||
| Fusion gene scores | * DoF score | 22 X 142 X 16=49984 | 44 X 55 X 10=24200 |
| # samples | 163 | 62 | |
| ** MAII score | log2(163/49984*10)=-4.93852248902354 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(62/24200*10)=-5.28659502177508 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCR [Title/Abstract] AND MYH11 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BCR(23637342)-MYH11(15880589), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | BCR-MYH11 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BCR-MYH11 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. BCR-MYH11 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. BCR-MYH11 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. BCR-MYH11 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 |
| Fusion gene information * 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 | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LUSC | TCGA-22-A5C4-01A | BCR | chr22 | 23637342 | - | MYH11 | chr16 | 15880589 | - |
| ChimerDB4 | LUSC | TCGA-22-A5C4-01A | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| ChimerDB4 | LUSC | TCGA-22-A5C4 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
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Fusion Gene ORF analysis for BCR-MYH11 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000305877 | ENST00000573908 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| Frame-shift | ENST00000305877 | ENST00000300036 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| Frame-shift | ENST00000305877 | ENST00000396324 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| Frame-shift | ENST00000305877 | ENST00000452625 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| Frame-shift | ENST00000305877 | ENST00000576790 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000359540 | ENST00000300036 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000359540 | ENST00000396324 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000359540 | ENST00000452625 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000359540 | ENST00000576790 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000398512 | ENST00000300036 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000398512 | ENST00000396324 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000398512 | ENST00000452625 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000398512 | ENST00000576790 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000436990 | ENST00000300036 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000436990 | ENST00000396324 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000436990 | ENST00000452625 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-3CDS | ENST00000436990 | ENST00000576790 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-intron | ENST00000359540 | ENST00000573908 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-intron | ENST00000398512 | ENST00000573908 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| intron-intron | ENST00000436990 | ENST00000573908 | BCR | chr22 | 23637342 | + | MYH11 | chr16 | 15880589 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BCR-MYH11 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BCR-MYH11 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:23637342/:15880589) - 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 | MYH11 |
| 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: Muscle contraction. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for BCR-MYH11 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for BCR-MYH11 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BCR-MYH11 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Hgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for BCR-MYH11 |
| 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 |
| Hgene | BCR | C0005699 | Blast Phase | 1 | CTD_human |
| Hgene | BCR | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
| Hgene | BCR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | BCR | C0027022 | Myeloproliferative disease | 1 | CTD_human |
| Hgene | BCR | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | BCR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | BCR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | BCR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | BCR | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
| Tgene | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 10 | CLINGEN;GENOMICS_ENGLAND | |
| Tgene | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human | |
| Tgene | C0023479 | Acute myelomonocytic leukemia | 2 | CTD_human;ORPHANET | |
| Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human | |
| Tgene | C1851504 | Aortic aneurysm, familial thoracic 4 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human | |
| Tgene | C1608393 | Megacystis microcolon intestinal hypoperistalsis syndrome | 1 | GENOMICS_ENGLAND;ORPHANET |
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