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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:ERCC6-MICU1 (FusionGDB2 ID:27327) |
Fusion Gene Summary for ERCC6-MICU1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERCC6-MICU1 | Fusion gene ID: 27327 | Hgene | Tgene | Gene symbol | ERCC6 | MICU1 | Gene ID | 2074 | 10367 |
| Gene name | ERCC excision repair 6, chromatin remodeling factor | mitochondrial calcium uptake 1 | |
| Synonyms | ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1 | CALC|CBARA1|EFHA3|MPXPS|ara CALC | |
| Cytomap | 10q11.23 | 10q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA excision repair protein ERCC-6ERCC6-PGBD3 fusion proteinATP-dependent helicase ERCC6Chimeric CSB-PGBD3 proteinChimeric ERCC6-PGBD3 proteinCockayne syndrome group B proteincockayne syndrome protein CSBexcision repair cross-complementation group | calcium uptake protein 1, mitochondrialatopy-related autoantigen CALCcalcium-binding atopy-related autoantigen 1 | |
| Modification date | 20200322 | 20200313 | |
| UniProtAcc | Q03468 | Q9BPX6 | |
| Ensembl transtripts involved in fusion gene | ENST00000355832, ENST00000465653, ENST00000542458, | ENST00000361114, ENST00000398761, ENST00000398763, ENST00000401998, ENST00000418483, ENST00000604025, | |
| Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 22 X 15 X 11=3630 |
| # samples | 7 | 30 | |
| ** MAII score | log2(7/126*10)=-0.84799690655495 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 | PubMed: ERCC6 [Title/Abstract] AND MICU1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ERCC6(50747007)-MICU1(74183129), # 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 | ERCC6 | GO:0000012 | single strand break repair | 29545921 |
| Hgene | ERCC6 | GO:0006979 | response to oxidative stress | 16107709 |
| Hgene | ERCC6 | GO:0009411 | response to UV | 16916636 |
| Hgene | ERCC6 | GO:0032784 | regulation of DNA-templated transcription, elongation | 9326587 |
| Hgene | ERCC6 | GO:0032786 | positive regulation of DNA-templated transcription, elongation | 9326587 |
| Hgene | ERCC6 | GO:0097680 | double-strand break repair via classical nonhomologous end joining | 29545921 |
| 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 ERCC6 (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 MICU1 (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 |
| ChimerDB4 | UCEC | TCGA-AP-A052 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
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Fusion Gene ORF analysis for ERCC6-MICU1 |
| 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 |
| 5UTR-3CDS | ENST00000355832 | ENST00000361114 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 5UTR-3CDS | ENST00000355832 | ENST00000398761 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 5UTR-3CDS | ENST00000355832 | ENST00000398763 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 5UTR-3CDS | ENST00000355832 | ENST00000401998 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 5UTR-3CDS | ENST00000355832 | ENST00000418483 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 5UTR-intron | ENST00000355832 | ENST00000604025 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000465653 | ENST00000361114 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000465653 | ENST00000398761 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000465653 | ENST00000398763 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000465653 | ENST00000401998 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000465653 | ENST00000418483 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000542458 | ENST00000361114 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000542458 | ENST00000398761 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000542458 | ENST00000398763 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000542458 | ENST00000401998 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-3CDS | ENST00000542458 | ENST00000418483 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-intron | ENST00000465653 | ENST00000604025 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| intron-intron | ENST00000542458 | ENST00000604025 | ERCC6 | chr10 | 50747007 | - | MICU1 | chr10 | 74183129 | - |
| 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 ERCC6-MICU1 |
| 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 ERCC6-MICU1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:50747007/:74183129) - 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 |
| ERCC6 | MICU1 |
| FUNCTION: Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:20541997, PubMed:26620705). Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA (PubMed:15548521). It is required for transcription-coupled repair complex formation (PubMed:16916636). It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the sites of RNA polymerase II-blocking lesions (PubMed:16916636). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740). {ECO:0000269|PubMed:15548521, ECO:0000269|PubMed:16916636, ECO:0000269|PubMed:20541997, ECO:0000269|PubMed:22483866, ECO:0000269|PubMed:24874740, ECO:0000269|PubMed:25820262, ECO:0000269|PubMed:26620705, ECO:0000269|PubMed:28292928, ECO:0000269|PubMed:29203878}. | 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. |
| - 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 ERCC6-MICU1 |
| 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 ERCC6-MICU1 |
| 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 ERCC6-MICU1 |
| 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 ERCC6-MICU1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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