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Fusion gene ID: 22775 |
FusionGeneSummary for MTM1_EMG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTM1_EMG1 | Fusion gene ID: 22775 | Hgene | Tgene | Gene symbol | MTM1 | EMG1 | Gene ID | 4534 | 10436 |
| Gene name | myotubularin 1 | EMG1, N1-specific pseudouridine methyltransferase | |
| Synonyms | CNM|MTMX|XLMTM | C2F|Grcc2f|NEP1 | |
| Cytomap | Xq28 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myotubularinphosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase | ribosomal RNA small subunit methyltransferase NEP118S rRNA (pseudouridine(1248)-N1)-methyltransferase18S rRNA (pseudouridine-N1-)-methyltransferase NEP118S rRNA Psi1248 methyltransferaseEMG1 nucleolar protein homologessential for mitotic growth 1nuc | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q13496 | Q92979 | |
| Ensembl transtripts involved in fusion gene | ENST00000370396, ENST00000542741, ENST00000543350, ENST00000306167, ENST00000413012, | ENST00000261406, ENST00000546220, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 5 X 1=25 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/25*10)=1.26303440583379 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MTM1 [Title/Abstract] AND EMG1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AU125262 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000370396 | ENST00000261406 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000370396 | ENST00000546220 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000542741 | ENST00000261406 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000542741 | ENST00000546220 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000543350 | ENST00000261406 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000543350 | ENST00000546220 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000306167 | ENST00000261406 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| 3UTR-intron | ENST00000306167 | ENST00000546220 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000413012 | ENST00000261406 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
| intron-intron | ENST00000413012 | ENST00000546220 | MTM1 | chrX | 149840410 | + | EMG1 | chr12 | 7125842 | - |
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FusionProtFeatures for MTM1_EMG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTM1 | EMG1 |
| Lipid phosphatase which dephosphorylatesphosphatidylinositol 3-monophosphate (PI3P) andphosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also beenshown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation throughregulation of EGFR trafficking from the late endosome to thelysosome. Plays a role in vacuolar formation and morphology.Regulates desmin intermediate filament assembly and architecture.Plays a role in mitochondrial morphology and positioning. Requiredfor skeletal muscle maintenance but not for myogenesis.{ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925,ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070,ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:9537414}. | S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248(Psi1248) in 18S rRNA. Involved the biosynthesis of thehypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine(m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able tomethylate uridine at this position (PubMed:20047967). Has also anessential role in 40S ribosomal subunit biogenesis independent onits methyltransferase activity, facilitating the incorporation ofribosomal protein S19 during the formation of pre-ribosomes (Bysimilarity). {ECO:0000250|UniProtKB:Q06287,ECO:0000269|PubMed:20047967}. |
| 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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FusionGeneSequence for MTM1_EMG1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MTM1_EMG1 |
| 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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RelatedDrugs for MTM1_EMG1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MTM1_EMG1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTM1 | C0410203 | X-linked centronuclear myopathy | 13 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MTM1 | C0752282 | Congenital Structural Myopathy | 1 | CTD_human |
| Tgene | EMG1 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | EMG1 | C1859405 | Bowen-Conradi syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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