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Fusion gene ID: 8161 |
FusionGeneSummary for COX18_TBCD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COX18_TBCD | Fusion gene ID: 8161 | Hgene | Tgene | Gene symbol | COX18 | TBCD | Gene ID | 285521 | 6904 |
| Gene name | COX18, cytochrome c oxidase assembly factor | tubulin folding cofactor D | |
| Synonyms | COX18HS | PEBAT|SSD-1|tfcD | |
| Cytomap | 4q13.3 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytochrome c oxidase assembly protein COX18, mitochondrialcytochrome c oxidase assembly homolog 18cytochrome c oxidase assembly protein 18mitochondrial inner membrane protein COX18 | tubulin-specific chaperone Dbeta-tubulin cofactor D | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8N8Q8 | Q9BTW9 | |
| Ensembl transtripts involved in fusion gene | ENST00000295890, ENST00000507544, ENST00000421792, | ENST00000355528, ENST00000397466, ENST00000539345, ENST00000576691, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 8 X 7 X 8=448 |
| # samples | 2 | 9 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(9/448*10)=-2.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COX18 [Title/Abstract] AND TBCD [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 | COX18 | GO:0032979 | protein insertion into mitochondrial membrane from inner side | 28330871 |
| Tgene | TBCD | GO:0006457 | protein folding | 20740604 |
| Tgene | TBCD | GO:0007021 | tubulin complex assembly | 28158450 |
| Tgene | TBCD | GO:0007023 | post-chaperonin tubulin folding pathway | 11847227 |
| Tgene | TBCD | GO:0031115 | negative regulation of microtubule polymerization | 10831612|20740604 |
| 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-A2-A0T1-01A | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| * 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 |
| Frame-shift | ENST00000295890 | ENST00000355528 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| Frame-shift | ENST00000295890 | ENST00000397466 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| Frame-shift | ENST00000295890 | ENST00000539345 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| 5CDS-intron | ENST00000295890 | ENST00000576691 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| Frame-shift | ENST00000507544 | ENST00000355528 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| Frame-shift | ENST00000507544 | ENST00000397466 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| Frame-shift | ENST00000507544 | ENST00000539345 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| 5CDS-intron | ENST00000507544 | ENST00000576691 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| intron-3CDS | ENST00000421792 | ENST00000355528 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| intron-3CDS | ENST00000421792 | ENST00000397466 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| intron-3CDS | ENST00000421792 | ENST00000539345 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
| intron-intron | ENST00000421792 | ENST00000576691 | COX18 | chr4 | 73927530 | - | TBCD | chr17 | 80861281 | + |
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FusionProtFeatures for COX18_TBCD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COX18 | TBCD |
| Mitochondrial membrane insertase required for thetranslocation of the C-terminus of cytochrome c oxidase subunit II(MT-CO2/COX2) across the mitochondrial inner membrane. Plays arole in MT-CO2/COX2 maturation following the COX20-mediatedstabilization of newly synthesized MT-CO2/COX2 protein and beforethe action of the metallochaperones SCO1/2. Essential for theassembly and stability of the mitochondrial respiratory chaincomplex IV (also known as cytochrome c oxidase).{ECO:0000269|PubMed:16911509, ECO:0000269|PubMed:28330871}. |
| 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 COX18_TBCD |
| 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 COX18_TBCD |
| 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 |
| COX18 | VNN2 | TBCD | PPP2CA, ARL2, XRCC6, TERF1, ACD, POT1, APP, SMAD9, POLR2I, APEH, HIST1H1C, NASP, NMI, SNX2, STAT3, ACBD3, ATG7, CUL3, GORASP2, GTF2A1, ME1, RPUSD2, SARS, SH3GLB2, STAT1, VPS25, TOM1, TSN, VPS29, WDR12, ABCE1, BSG, TUBB2A, TUBB2B, SCN2B, HTR6, PSMD5, TPM3, TPM4, NTRK1, KRAS, FAF2, TUBB, LRRC4, NCR3LG1, VSIG1, CRYL1, IL1R2, IL17RA, TCP11L1, ZNF146, ZNF836, MTNR1B, TRIM25 |
| - 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 COX18_TBCD |
| 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 COX18_TBCD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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