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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:MTM1-LPCAT3 (FusionGDB2 ID:55716) |
Fusion Gene Summary for MTM1-LPCAT3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTM1-LPCAT3 | Fusion gene ID: 55716 | Hgene | Tgene | Gene symbol | MTM1 | LPCAT3 | Gene ID | 4534 | 10162 |
| Gene name | myotubularin 1 | lysophosphatidylcholine acyltransferase 3 | |
| Synonyms | CNM|MTMX|XLMTM | C3F|LPCAT|LPLAT 5|LPSAT|MBOAT5|OACT5|nessy | |
| Cytomap | Xq28 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myotubularinphosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase | lysophospholipid acyltransferase 51-acylglycerophosphocholine O-acyltransferase1-acylglycerophosphoserine O-acyltransferaseO-acyltransferase (membrane bound) domain containing 5O-acyltransferase domain-containing protein 5lyso-PC acyltransferase 3ly | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | Q13496 | Q6P1A2 | |
| Ensembl transtripts involved in fusion gene | ENST00000306167, ENST00000370396, ENST00000413012, ENST00000542741, ENST00000543350, | ENST00000261407, ENST00000535021, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 7 X 6 X 3=126 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/126*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MTM1 [Title/Abstract] AND LPCAT3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MTM1(149840410)-LPCAT3(7125842), # 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 | MTM1 | GO:0006470 | protein dephosphorylation | 9537414 |
| Hgene | MTM1 | GO:0008333 | endosome to lysosome transport | 14722070 |
| Hgene | MTM1 | GO:0044088 | regulation of vacuole organization | 14722070 |
| Hgene | MTM1 | GO:0046856 | phosphatidylinositol dephosphorylation | 10900271|12646134 |
| Hgene | MTM1 | GO:0070584 | mitochondrion morphogenesis | 21135508 |
| Fusion gene breakpoints across MTM1 (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 LPCAT3 (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 | AU125262 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
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Fusion Gene ORF analysis for MTM1-LPCAT3 |
| 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-intron | ENST00000306167 | ENST00000261407 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000306167 | ENST00000535021 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000370396 | ENST00000261407 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000370396 | ENST00000535021 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000413012 | ENST00000261407 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000413012 | ENST00000535021 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000542741 | ENST00000261407 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000542741 | ENST00000535021 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000543350 | ENST00000261407 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| intron-intron | ENST00000543350 | ENST00000535021 | MTM1 | chrX | 149840410 | + | LPCAT3 | chr12 | 7125842 | - |
| 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 MTM1-LPCAT3 |
| 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 MTM1-LPCAT3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:149840410/:7125842) - 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 |
| MTM1 | LPCAT3 |
| FUNCTION: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870). {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:23818870, ECO:0000269|PubMed:9537414}. | FUNCTION: Lysophospholipid O-acyltransferase (LPLAT) that catalyzes the reacylation step of the phospholipid remodeling process also known as the Lands cycle (PubMed:18782225, PubMed:18195019, PubMed:18772128). Catalyzes transfer of the fatty acyl chain from fatty acyl-CoA to 1-acyl lysophospholipid to form various classes of phospholipids. Converts 1-acyl lysophosphatidylcholine (LPC) into phosphatidylcholine (PC) (LPCAT activity), 1-acyl lysophosphatidylserine (LPS) into phosphatidylserine (PS) (LPSAT activity) and 1-acyl lysophosphatidylethanolamine (LPE) into phosphatidylethanolamine (PE) (LPEAT activity) (PubMed:18782225, PubMed:18195019, PubMed:18772128). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs (PubMed:18195019, PubMed:18772128). Has higher activity for LPC acyl acceptors compared to LPEs and LPSs. Can also transfer the fatty acyl chain from fatty acyl-CoA to 1-O-alkyl lysophospholipid or 1-O-alkenyl lysophospholipid with lower efficiency (By similarity). Acts as a major LPC O-acyltransferase in liver and intestine. As a component of the liver X receptor/NR1H3 or NR1H2 signaling pathway, mainly catalyzes the incorporation of arachidonate into PCs of endoplasmic reticulum (ER) membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles. Promotes processing of sterol regulatory protein SREBF1 in hepatocytes, likely by facilitating the translocation of SREBF1-SCAP complex from ER to the Golgi apparatus (By similarity). Participates in mechanisms by which the liver X receptor/NR1H3 or NR1H2 signaling pathway counteracts lipid-induced ER stress response and inflammation. Downregulates hepatic inflammation by limiting arachidonic acid availability for synthesis of inflammatory eicosanoids, such as prostaglandins (By similarity). In enterocytes, acts as a component of a gut-brain feedback loop that coordinates dietary lipid absorption and food intake. Regulates the abundance of PCs containing linoleate and arachidonate in enterocyte membranes, enabling passive diffusion of fatty acids and cholesterol across the membrane for efficient chylomicron assembly (By similarity). In the intestinal crypt, acts as a component of dietary-responsive phospholipid-cholesterol axis, regulating the biosynthesis of cholesterol and its mitogenic effects on intestinal stem cells (By similarity). {ECO:0000250|UniProtKB:Q91V01, ECO:0000269|PubMed:18195019, ECO:0000269|PubMed:18772128, ECO:0000269|PubMed:18782225}. |
| 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 MTM1-LPCAT3 |
| 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 MTM1-LPCAT3 |
| 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 MTM1-LPCAT3 |
| 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 MTM1-LPCAT3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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