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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:MYL12B-EMP2 (FusionGDB2 ID:56436) |
Fusion Gene Summary for MYL12B-EMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYL12B-EMP2 | Fusion gene ID: 56436 | Hgene | Tgene | Gene symbol | MYL12B | EMP2 | Gene ID | 103910 | 2013 |
| Gene name | myosin light chain 12B | epithelial membrane protein 2 | |
| Synonyms | MLC-B|MRLC2 | XMP | |
| Cytomap | 18p11.31 | 16p13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myosin regulatory light chain 12BMLC-2MLC-2AMLC20SHUJUN-1myosin regulatory light chain 2myosin regulatory light chain 2-B, smooth muscle isoformmyosin regulatory light chain 20 kDamyosin regulatory light chain MRLC2myosin, light chain 12B, regula | epithelial membrane protein 2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O14950 | P54851 | |
| Ensembl transtripts involved in fusion gene | ENST00000237500, ENST00000400175, ENST00000581193, ENST00000584539, | ENST00000359543, ENST00000536829, ENST00000566033, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 4 X 5 X 1=20 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/20*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MYL12B [Title/Abstract] AND EMP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MYL12B(3278186)-EMP2(10626649), # 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 |
| Tgene | EMP2 | GO:0001954 | positive regulation of cell-matrix adhesion | 16216233 |
| Tgene | EMP2 | GO:0003093 | regulation of glomerular filtration | 24814193 |
| Tgene | EMP2 | GO:0007015 | actin filament organization | 19494199 |
| Tgene | EMP2 | GO:0007155 | cell adhesion | 19494199 |
| Tgene | EMP2 | GO:0007160 | cell-matrix adhesion | 19494199 |
| Tgene | EMP2 | GO:0008219 | cell death | 12107182 |
| Tgene | EMP2 | GO:0008283 | cell proliferation | 21637765 |
| Tgene | EMP2 | GO:0010594 | regulation of endothelial cell migration | 23334331 |
| Tgene | EMP2 | GO:0016477 | cell migration | 21637765 |
| Tgene | EMP2 | GO:0032060 | bleb assembly | 12107182 |
| Tgene | EMP2 | GO:0032147 | activation of protein kinase activity | 21637765 |
| Tgene | EMP2 | GO:0043534 | blood vessel endothelial cell migration | 23439602 |
| Tgene | EMP2 | GO:0043549 | regulation of kinase activity | 18469192 |
| Tgene | EMP2 | GO:0045765 | regulation of angiogenesis | 23334331 |
| Tgene | EMP2 | GO:0070252 | actin-mediated cell contraction | 18469192|22728127 |
| Tgene | EMP2 | GO:2001046 | positive regulation of integrin-mediated signaling pathway | 16216233 |
| Tgene | EMP2 | GO:2001212 | regulation of vasculogenesis | 23334331 |
| Fusion gene breakpoints across MYL12B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across EMP2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
| ChiTaRS5.0 | N/A | AI557061 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
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Fusion Gene ORF analysis for MYL12B-EMP2 |
| 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 |
| 3UTR-3UTR | ENST00000237500 | ENST00000359543 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-3UTR | ENST00000400175 | ENST00000359543 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-3UTR | ENST00000581193 | ENST00000359543 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-3UTR | ENST00000584539 | ENST00000359543 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000237500 | ENST00000536829 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000237500 | ENST00000566033 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000400175 | ENST00000536829 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000400175 | ENST00000566033 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000581193 | ENST00000536829 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000581193 | ENST00000566033 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000584539 | ENST00000536829 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 3UTR-intron | ENST00000584539 | ENST00000566033 | MYL12B | chr18 | 3278186 | + | EMP2 | chr16 | 10626649 | - |
| 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 MYL12B-EMP2 |
| 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) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MYL12B-EMP2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:3278186/:10626649) - 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 |
| MYL12B | EMP2 |
| FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion. {ECO:0000269|PubMed:10965042}. | FUNCTION: Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation (PubMed:24814193). Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cytotoxicity (By similarity). Regulates the plasma membrane expression of the integrin heterodimers ITGA6-ITGB1, ITGA5-ITGB3 and ITGA5-ITGB1 resulting in modulation of cell-matrix adhesion (PubMed:16216233). Also regulates many processes through PTK2. Regulates blood vessel endothelial cell migration and angiogenesis by regulating VEGF protein expression through PTK2 activation (PubMed:23439602). Regulates cell migration and cell contraction through PTK2 and SRC activation (PubMed:21637765, PubMed:22728127). Regulates focal adhesion density, F-actin conformation and cell adhesion capacity through interaction with PTK2 (PubMed:19494199). Positively regulates cell proliferation (PubMed:24814193). Plays a role during cell death and cell blebbing (PubMed:12107182). Promotes angiogenesis and vasculogenesis through induction of VEGFA via a HIF1A-dependent pathway (PubMed:23334331). Also plays a role in embryo implantation by regulating surface trafficking of integrin heterodimer ITGA5-ITGB3 (PubMed:16487956). May play a role in glomerular filtration (By similarity). {ECO:0000250|UniProtKB:F1QIK8, ECO:0000250|UniProtKB:O88662, ECO:0000269|PubMed:12107182, ECO:0000269|PubMed:16216233, ECO:0000269|PubMed:16487956, ECO:0000269|PubMed:19494199, ECO:0000269|PubMed:21637765, ECO:0000269|PubMed:22728127, ECO:0000269|PubMed:23334331, ECO:0000269|PubMed:23439602, ECO:0000269|PubMed:24814193}. |
| 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 MYL12B-EMP2 |
| 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 MYL12B-EMP2 |
| 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 MYL12B-EMP2 |
| 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 |
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Related Diseases for MYL12B-EMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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