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Fusion gene ID: 21345 |
FusionGeneSummary for MCU_CHCHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MCU_CHCHD1 | Fusion gene ID: 21345 | Hgene | Tgene | Gene symbol | MCU | CHCHD1 | Gene ID | 90550 | 118487 |
| Gene name | mitochondrial calcium uniporter | coiled-coil-helix-coiled-coil-helix domain containing 1 | |
| Synonyms | C10orf42|CCDC109A|HsMCU | C10orf34|C2360|MRP-S37 | |
| Cytomap | 10q22.1 | 10q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calcium uniporter protein, mitochondrialcoiled-coil domain-containing protein 109A | coiled-coil-helix-coiled-coil-helix domain-containing protein 128S ribosomal protein S37, mitochondrialmitochondrial small ribosomal subunit protein mS37nuclear protein C2360 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8NE86 | Q96BP2 | |
| Ensembl transtripts involved in fusion gene | ENST00000373053, ENST00000357157, ENST00000536019, ENST00000605416, | ENST00000372837, ENST00000372833, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: MCU [Title/Abstract] AND CHCHD1 [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 | MCU | GO:0006851 | mitochondrial calcium ion transmembrane transport | 21685888|24560927 |
| Hgene | MCU | GO:0019722 | calcium-mediated signaling | 21685886|21685888 |
| Hgene | MCU | GO:0036444 | calcium import into the mitochondrion | 22925203 |
| Hgene | MCU | GO:0051259 | protein complex oligomerization | 21685886 |
| Hgene | MCU | GO:0051561 | positive regulation of mitochondrial calcium ion concentration | 21685888|24560927 |
| 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 |
| TCGA | LD | BRCA | TCGA-AR-A24L-01A | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| * 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 |
| 5CDS-3UTR | ENST00000373053 | ENST00000372837 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| 5CDS-3UTR | ENST00000373053 | ENST00000372833 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| 5CDS-3UTR | ENST00000357157 | ENST00000372837 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| 5CDS-3UTR | ENST00000357157 | ENST00000372833 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| 5CDS-3UTR | ENST00000536019 | ENST00000372837 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| 5CDS-3UTR | ENST00000536019 | ENST00000372833 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| intron-3UTR | ENST00000605416 | ENST00000372837 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
| intron-3UTR | ENST00000605416 | ENST00000372833 | MCU | chr10 | 74594186 | + | CHCHD1 | chr10 | 75542832 | + |
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FusionProtFeatures for MCU_CHCHD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MCU | CHCHD1 |
| Mitochondrial inner membrane calcium uniporter thatmediates calcium uptake into mitochondria (PubMed:21685888,PubMed:21685886, PubMed:23101630, PubMed:22904319,PubMed:23178883, PubMed:22829870, PubMed:22822213,PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutesthe pore-forming and calcium-conducting subunit of the uniportercomplex (uniplex) (PubMed:23755363). Activity is regulated byMICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1increases MCU activity (PubMed:24560927, PubMed:26903221).Mitochondrial calcium homeostasis plays key roles in cellularphysiology and regulates cell bioenergetics, cytoplasmic calciumsignals and activation of cell death pathways. Involved inbuffering the amplitude of systolic calcium rises incardiomyocytes (PubMed:22822213). While dispensable for baselinehomeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a 'fight-or-flight'response during acute stress: acts by mediating a rapid increaseof mitochondrial calcium in pacemaker cells (PubMed:25603276).participates in mitochondrial permeability transition duringischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulatingmitochondrial calcium uptake (PubMed:22904319, PubMed:22829870).Mitochondrial calcium uptake in skeletal muscle cells is involvedin muscle size in adults (By similarity). Regulates synapticvesicle endocytosis kinetics in central nerve terminal (Bysimilarity). Involved in antigen processing and presentation (Bysimilarity). {ECO:0000250|UniProtKB:Q3UMR5,ECO:0000269|PubMed:21685886, ECO:0000269|PubMed:21685888,ECO:0000269|PubMed:22822213, ECO:0000269|PubMed:22829870,ECO:0000269|PubMed:22904319, ECO:0000269|PubMed:23101630,ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:23755363,ECO:0000269|PubMed:24332854, ECO:0000269|PubMed:24560927,ECO:0000269|PubMed:25603276, ECO:0000269|PubMed:26341627,ECO:0000269|PubMed:26903221}. |
| 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 MCU_CHCHD1 |
| 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 MCU_CHCHD1 |
| 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 |
| MCU | ICT1, ELAVL1, ABCC1, SLC38A2, SLC1A5, ERLIN2, COLEC10, GNAI2, NYX, NDUFA9, MYC, RAB7A, VAPA, GOLT1B, ZNF526, NDUFA4, ASPH, TOR1AIP2, EDEM2, SLC5A8, APLNR, SLC22A6, IRGC, PDCD1, SLC15A1, ARMC6, IL13RA2, SMDT1, EIF2B1, EIF2B2, EIF2B4, TRIM25 | CHCHD1 | ICT1, NEDD1, CHCHD1, PPM1K, NRD1, IDE, CHCHD4, PMPCA, CBY1 |
| - 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 MCU_CHCHD1 |
| 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 MCU_CHCHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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