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Fusion Protein:MGLL-MICU1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: MGLL-MICU1 | FusionPDB ID: 53400 | FusionGDB2.0 ID: 53400 | Hgene | Tgene | Gene symbol | MGLL | MICU1 | Gene ID | 11343 | 10367 |
| Gene name | monoglyceride lipase | mitochondrial calcium uptake 1 | |
| Synonyms | HU-K5|HUK5|MAGL|MGL | CALC|CBARA1|EFHA3|MPXPS|ara CALC | |
| Cytomap | 3q21.3 | 10q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | monoglyceride lipaselysophospholipase homologmonoacylglycerol lipase | calcium uptake protein 1, mitochondrialatopy-related autoantigen CALCcalcium-binding atopy-related autoantigen 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q99685 | Q9BPX6 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265052, ENST00000398101, ENST00000398104, ENST00000434178, ENST00000476682, ENST00000453507, | ENST00000604025, ENST00000361114, ENST00000398761, ENST00000398763, ENST00000401998, ENST00000418483, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 7 X 4=196 | 22 X 15 X 11=3630 |
| # samples | 8 | 30 | |
| ** MAII score | log2(8/196*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(30/3630*10)=-3.59693514238723 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: MGLL [Title/Abstract] AND MICU1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MGLL(127429418)-MICU1(74237014), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MGLL-MICU1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. MGLL-MICU1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | MGLL | GO:0046464 | acylglycerol catabolic process | 22969151 |
| Tgene | MICU1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 24560927 |
| Tgene | MICU1 | GO:0051260 | protein homooligomerization | 24514027 |
| Tgene | MICU1 | GO:0051561 | positive regulation of mitochondrial calcium ion concentration | 24560927 |
| Tgene | MICU1 | GO:0070509 | calcium ion import | 20693986 |
| Fusion gene breakpoints across MGLL (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across MICU1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 |
| ChimerDB4 | STAD | TCGA-IN-8663 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000434178 | MGLL | chr3 | 127429418 | - | ENST00000401998 | MICU1 | chr10 | 74237014 | - | 3101 | 1467 | 1499 | 2245 | 248 |
| ENST00000434178 | MGLL | chr3 | 127429418 | - | ENST00000361114 | MICU1 | chr10 | 74237014 | - | 3101 | 1467 | 1499 | 2245 | 248 |
| ENST00000434178 | MGLL | chr3 | 127429418 | - | ENST00000398761 | MICU1 | chr10 | 74237014 | - | 3101 | 1467 | 1499 | 2245 | 248 |
| ENST00000434178 | MGLL | chr3 | 127429418 | - | ENST00000418483 | MICU1 | chr10 | 74237014 | - | 2527 | 1467 | 1499 | 2245 | 248 |
| ENST00000434178 | MGLL | chr3 | 127429418 | - | ENST00000398763 | MICU1 | chr10 | 74237014 | - | 2330 | 1467 | 1499 | 2245 | 248 |
| 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 |
| ENST00000434178 | ENST00000401998 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - | 0.00595825 | 0.99404174 |
| ENST00000434178 | ENST00000361114 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - | 0.006219483 | 0.99378055 |
| ENST00000434178 | ENST00000398761 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - | 0.00595825 | 0.99404174 |
| ENST00000434178 | ENST00000418483 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - | 0.00720231 | 0.9927977 |
| ENST00000434178 | ENST00000398763 | MGLL | chr3 | 127429418 | - | MICU1 | chr10 | 74237014 | - | 0.007455166 | 0.99254483 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >53400_53400_1_MGLL-MICU1_MGLL_chr3_127429418_ENST00000434178_MICU1_chr10_74237014_ENST00000361114_length(amino acids)=248AA_BP= MFDLNGDGEVDMEEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPV DGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVEL -------------------------------------------------------------- >53400_53400_2_MGLL-MICU1_MGLL_chr3_127429418_ENST00000434178_MICU1_chr10_74237014_ENST00000398761_length(amino acids)=248AA_BP= MFDLNGDGEVDMEEFEQAISIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPV DGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVEL -------------------------------------------------------------- >53400_53400_3_MGLL-MICU1_MGLL_chr3_127429418_ENST00000434178_MICU1_chr10_74237014_ENST00000398763_length(amino acids)=248AA_BP= MFDLNGDGEVDMEEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPV DGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVEL -------------------------------------------------------------- >53400_53400_4_MGLL-MICU1_MGLL_chr3_127429418_ENST00000434178_MICU1_chr10_74237014_ENST00000401998_length(amino acids)=248AA_BP= MFDLNGDGEVDMEEFEQAISIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPV DGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVEL -------------------------------------------------------------- >53400_53400_5_MGLL-MICU1_MGLL_chr3_127429418_ENST00000434178_MICU1_chr10_74237014_ENST00000418483_length(amino acids)=248AA_BP= MFDLNGDGEVDMEEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCSALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPV DGRITERQFGGMLLAYSGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLDKVTMQQVARTVAKVEL -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:127429418/chr10:74237014) - 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 |
| MGLL | MICU1 |
| FUNCTION: Converts monoacylglycerides to free fatty acids and glycerol (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth (PubMed:20079333). {ECO:0000269|PubMed:19029917, ECO:0000269|PubMed:20079333, ECO:0000269|PubMed:21049984, ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:24368842}. | FUNCTION: Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains (PubMed:20693986, PubMed:23101630, PubMed:23747253, PubMed:24313810, PubMed:24332854, PubMed:24503055, PubMed:24560927, PubMed:26341627, PubMed:26903221, PubMed:27099988). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake (PubMed:26903221). Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening (PubMed:26903221). Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm (PubMed:24560927, PubMed:26903221). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319). Induces T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG (PubMed:16002733). {ECO:0000269|PubMed:16002733, ECO:0000269|PubMed:20693986, ECO:0000269|PubMed:22904319, ECO:0000269|PubMed:23101630, ECO:0000269|PubMed:23747253, ECO:0000269|PubMed:24313810, ECO:0000269|PubMed:24332854, ECO:0000269|PubMed:24503055, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:26341627, ECO:0000269|PubMed:26903221, ECO:0000269|PubMed:27099988}. |
| 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. |
| - 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 |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 231_242 | 217.33333333333334 | 477.0 | Calcium binding | 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 421_432 | 217.33333333333334 | 477.0 | Calcium binding | 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 231_242 | 19.333333333333332 | 279.0 | Calcium binding | 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 421_432 | 19.333333333333332 | 279.0 | Calcium binding | 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 231_242 | 19.333333333333332 | 279.0 | Calcium binding | 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 421_432 | 19.333333333333332 | 279.0 | Calcium binding | 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 218_253 | 217.33333333333334 | 477.0 | Domain | EF-hand 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 408_443 | 217.33333333333334 | 477.0 | Domain | EF-hand 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 218_253 | 19.333333333333332 | 279.0 | Domain | EF-hand 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 408_443 | 19.333333333333332 | 279.0 | Domain | EF-hand 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 218_253 | 19.333333333333332 | 279.0 | Domain | EF-hand 1 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 408_443 | 19.333333333333332 | 279.0 | Domain | EF-hand 2 | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 455_465 | 217.33333333333334 | 477.0 | Region | C-helix region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 455_465 | 19.333333333333332 | 279.0 | Region | C-helix region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 99_110 | 19.333333333333332 | 279.0 | Region | Polybasic region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 455_465 | 19.333333333333332 | 279.0 | Region | C-helix region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 99_110 | 19.333333333333332 | 279.0 | Region | Polybasic region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 53_476 | 19.333333333333332 | 279.0 | Topological domain | Mitochondrial intermembrane | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 53_476 | 19.333333333333332 | 279.0 | Topological domain | Mitochondrial intermembrane | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000398763 | 2 | 9 | 34_52 | 19.333333333333332 | 279.0 | Transmembrane | Helical | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000418483 | 0 | 7 | 34_52 | 19.333333333333332 | 279.0 | Transmembrane | Helical |
| - 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 |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 99_110 | 217.33333333333334 | 477.0 | Region | Polybasic region | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 53_476 | 217.33333333333334 | 477.0 | Topological domain | Mitochondrial intermembrane | |
| Tgene | MICU1 | chr3:127429418 | chr10:74237014 | ENST00000361114 | 5 | 12 | 34_52 | 217.33333333333334 | 477.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| MGLL | |
| MICU1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MGLL-MICU1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MGLL-MICU1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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