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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:MECOM-BCR (FusionGDB2 ID:HG2122TG613) |
Fusion Gene Summary for MECOM-BCR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MECOM-BCR | Fusion gene ID: hg2122tg613 | Hgene | Tgene | Gene symbol | MECOM | BCR | Gene ID | 2122 | 613 |
| Gene name | MDS1 and EVI1 complex locus | BCR activator of RhoGEF and GTPase | |
| Synonyms | AML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2 | ALL|BCR1|CML|D22S11|D22S662|PHL | |
| Cytomap | ('MECOM')('BCR') 3q26.2 | 22q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase MECOMAML1-EVI-1 fusion proteinMDS1 and EVI1 complex locus protein EVI1MDS1 and EVI1 complex locus protein MDS1PR domain 3ecotropic virus integration site 1 protein homologmyelodysplasia syndrome-associated protein | breakpoint cluster region proteinBCR, RhoGEF and GTPase activating proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q03112 | P11274 | |
| Ensembl transtripts involved in fusion gene | ENST00000264674, ENST00000392736, ENST00000433243, ENST00000460814, ENST00000464456, ENST00000468789, ENST00000472280, ENST00000485957, ENST00000494292, | ||
| Fusion gene scores | * DoF score | 33 X 21 X 11=7623 | 15 X 58 X 7=6090 |
| # samples | 43 | 61 | |
| ** MAII score | log2(43/7623*10)=-4.14795031118505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(61/6090*10)=-3.31956108034345 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MECOM [Title/Abstract] AND BCR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MECOM(169200986)-BCR(23575980), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | MECOM | GO:0045892 | negative regulation of transcription, DNA-templated | 10856240|11568182 |
| Hgene | MECOM | GO:0045893 | positive regulation of transcription, DNA-templated | 11568182|19767769 |
| Hgene | MECOM | GO:0051726 | regulation of cell cycle | 11568182 |
| Tgene | 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 |
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Fusion Gene ORF analysis for MECOM-BCR |
| 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 |
| 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 MECOM-BCR |
| 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 MECOM-BCR |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:169200986/:23575980) - 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 |
| MECOM | BCR |
| FUNCTION: [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis. {ECO:0000269|PubMed:10856240, ECO:0000269|PubMed:11568182, ECO:0000269|PubMed:15897867, ECO:0000269|PubMed:16462766, ECO:0000269|PubMed:19767769, ECO:0000269|PubMed:9665135}.; FUNCTION: [Isoform 7]: Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation. {ECO:0000250|UniProtKB:P14404}. | 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}. |
| 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 MECOM-BCR |
| 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 MECOM-BCR |
| 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 MECOM-BCR |
| 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 |
| Tgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Tgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Tgene | BCR | P11274 | DB01254 | Dasatinib | Small molecule | Approved|Investigational | |
| Tgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | BCR | P11274 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for MECOM-BCR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MECOM | C4225221 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
| Hgene | MECOM | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Hgene | MECOM | C0007102 | Malignant tumor of colon | 1 | CTD_human |
| Hgene | MECOM | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | MECOM | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| Hgene | MECOM | C0023466 | Leukemia, Monocytic, Chronic | 1 | CTD_human |
| Hgene | MECOM | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Hgene | MECOM | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| Hgene | MECOM | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
| Hgene | MECOM | C0027022 | Myeloproliferative disease | 1 | CTD_human |
| Hgene | MECOM | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
| Hgene | MECOM | C0030312 | Pancytopenia | 1 | CTD_human |
| Hgene | MECOM | C0038002 | Splenomegaly | 1 | CTD_human |
| Hgene | MECOM | C0238301 | Cancer of Nasopharynx | 1 | CTD_human |
| Hgene | MECOM | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Hgene | MECOM | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | MECOM | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
| Hgene | MECOM | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Hgene | MECOM | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | MECOM | C1854273 | Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | 1 | GENOMICS_ENGLAND;ORPHANET |
| Hgene | MECOM | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
| Hgene | MECOM | C2931456 | Prostate cancer, familial | 1 | CTD_human |
| Hgene | MECOM | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
| Hgene | MECOM | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |
| Tgene | C0005586 | Bipolar Disorder | 4 | PSYGENET | |
| Tgene | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;ORPHANET | |
| Tgene | C0005699 | Blast Phase | 1 | CTD_human | |
| Tgene | C0006413 | Burkitt Lymphoma | 1 | ORPHANET | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0027022 | Myeloproliferative disease | 1 | CTD_human | |
| Tgene | C0027540 | Necrosis | 1 | CTD_human | |
| Tgene | C0027659 | Neoplasms, Experimental | 1 | CTD_human | |
| Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
| Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
| Tgene | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
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