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Fusion gene ID: 8165 |
FusionGeneSummary for COX20_SMR3B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COX20_SMR3B | Fusion gene ID: 8165 | Hgene | Tgene | Gene symbol | COX20 | SMR3B | Gene ID | 116228 | 10879 |
| Gene name | COX20, cytochrome c oxidase assembly factor | submaxillary gland androgen regulated protein 3B | |
| Synonyms | FAM36A | P-B|PBII|PRL3|PROL3|SMR1B | |
| Cytomap | 1q44 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytochrome c oxidase assembly protein COX20, mitochondrialCOX20 Cox2 chaperone homologcytochrome c oxidase protein 20 homologfamily with sequence similarity 36, member A | submaxillary gland androgen-regulated protein 3Bproline rich 3proline-rich peptide P-Bproline-rich protein 3salivary proline-rich proteinsubmaxillary gland androgen regulated protein 3 homolog B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q5RI15 | P02814 | |
| Ensembl transtripts involved in fusion gene | ENST00000411948, ENST00000366528, ENST00000498262, | ENST00000504825, ENST00000304915, | |
| Fusion gene scores | * DoF score | 3 X 5 X 2=30 | 9 X 8 X 2=144 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/144*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COX20 [Title/Abstract] AND SMR3B [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 |
| 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-AN-A0G0-01A | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| * 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-3UTR | ENST00000411948 | ENST00000504825 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| 3UTR-3UTR | ENST00000411948 | ENST00000304915 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| intron-3UTR | ENST00000366528 | ENST00000504825 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| intron-3UTR | ENST00000366528 | ENST00000304915 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| 3UTR-3UTR | ENST00000498262 | ENST00000504825 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
| 3UTR-3UTR | ENST00000498262 | ENST00000304915 | COX20 | chr1 | 245008030 | + | SMR3B | chr4 | 71255573 | + |
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FusionProtFeatures for COX20_SMR3B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COX20 | SMR3B |
| Essential for the assembly of the mitochondrialrespiratory chain complex IV (CIV), also known as cytochrome coxidase (PubMed:23125284). Acts as a chaperone in the early stepsof cytochrome c oxidase subunit II (MT-CO2/COX2) maturation,stabilizing the newly synthesized protein and presenting it tometallochaperones SCO1/2 which in turn facilitates theincorporation of the mature MT-CO2/COX2 into the assembling CIVholoenzyme (PubMed:24403053). {ECO:0000269|PubMed:23125284,ECO:0000269|PubMed:24403053}. |
| 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 COX20_SMR3B |
| 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 COX20_SMR3B |
| 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 |
| COX20 | COX2, CBWD1, COMMD4, UQCC1, UQCC2, GK, MED12, NDUFA4, COQ9, C15orf48, C16orf91, ECM1 | SMR3B | RAD21, UBQLN1, UBTD2, RASSF10, BCHE, TNFRSF19, SNRPF |
| - 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 COX20_SMR3B |
| 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 COX20_SMR3B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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