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Fusion gene ID: 40888 |
FusionGeneSummary for UQCRFS1_ANXA3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UQCRFS1_ANXA3 | Fusion gene ID: 40888 | Hgene | Tgene | Gene symbol | UQCRFS1 | ANXA3 | Gene ID | 7386 | 306 |
| Gene name | ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | annexin A3 | |
| Synonyms | RIP1|RIS1|RISP|UQCR5 | ANX3 | |
| Cytomap | 19q12 | 4q21.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytochrome b-c1 complex subunit Rieske, mitochondrialRieske iron-sulfur proteinRieske protein UQCRFS1complex III subunit 5cytochrome b-c1 complex subunit 5ubiquinol-cytochrome c reductase iron-sulfur subunit | annexin A335-alpha calcimedinAnnexin III (lipocortin III)PAP-IIIannexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)annexin-3calcimedin 35-alphainositol 1,2-cyclic p | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P47985 | P12429 | |
| Ensembl transtripts involved in fusion gene | ENST00000304863, | ENST00000264908, ENST00000512884, ENST00000503570, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: UQCRFS1 [Title/Abstract] AND ANXA3 [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 |
| Tgene | ANXA3 | GO:0006909 | phagocytosis | 9497492 |
| Tgene | ANXA3 | GO:0010595 | positive regulation of endothelial cell migration | 16236264 |
| Tgene | ANXA3 | GO:0042742 | defense response to bacterium | 9497492 |
| Tgene | ANXA3 | GO:0043312 | neutrophil degranulation | 9550422 |
| Tgene | ANXA3 | GO:0045766 | positive regulation of angiogenesis | 16236264 |
| Tgene | ANXA3 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 16236264 |
| 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 |
| ChiTaRS3.1 | BI032173 | UQCRFS1 | chr19 | 29703613 | + | ANXA3 | chr4 | 79502926 | - |
| * 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 |
| intron-intron | ENST00000304863 | ENST00000264908 | UQCRFS1 | chr19 | 29703613 | + | ANXA3 | chr4 | 79502926 | - |
| intron-intron | ENST00000304863 | ENST00000512884 | UQCRFS1 | chr19 | 29703613 | + | ANXA3 | chr4 | 79502926 | - |
| intron-intron | ENST00000304863 | ENST00000503570 | UQCRFS1 | chr19 | 29703613 | + | ANXA3 | chr4 | 79502926 | - |
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FusionProtFeatures for UQCRFS1_ANXA3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UQCRFS1 | ANXA3 |
| Cytochrome b-c1 complex subunit Rieske, mitochondrial:Component of the mitochondrial ubiquinol-cytochrome c reductasecomplex dimer (complex III dimer), which is a respiratory chainthat generates an electrochemical potential coupled to ATPsynthesis (PubMed:28673544). Incorporation of UQCRFS1 is thepenultimate step in complex III assembly (By similarity).{ECO:0000250|UniProtKB:P47985, ECO:0000269|PubMed:28673544}. Cytochrome b-c1 complex subunit 9: Possible component ofthe mitochondrial ubiquinol-cytochrome c reductase complex dimer(complex III dimer), which is a respiratory chain that generatesan electrochemical potential coupled to ATP synthesis(PubMed:28673544). UQCRFS1 undergoes proteolytic processing onceit is incorporated in the complex III dimer, including thisfragment, called subunit 9, which corresponds to the transitpeptide (PubMed:28673544). The proteolytic processing is necessaryfor the correct insertion of UQCRFS1 in the complex III dimer, butthe persistence of UQCRFS1-derived fragments may prevent newlyimported UQCRFS1 to be processed and assembled into complex IIIand is detrimental for the complex III structure and function(PubMed:28673544). It is therefore unsure whether the UQCRFS1fragments, including this fragment, are structural subunits(PubMed:28673544). {ECO:0000269|PubMed:28673544}. | Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol1,2-cyclic phosphate to form inositol 1-phosphate. |
| 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 UQCRFS1_ANXA3 |
| 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 UQCRFS1_ANXA3 |
| 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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RelatedDrugs for UQCRFS1_ANXA3 |
| 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 |
| Tgene | ANXA3 | P12429 | DB09095 | Difluocortolone | Annexin A3 | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for UQCRFS1_ANXA3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UQCRFS1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Tgene | ANXA3 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | ANXA3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ANXA3 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Tgene | ANXA3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | ANXA3 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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