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Fusion gene ID: 27168 |
FusionGeneSummary for PIGU_UQCC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIGU_UQCC1 | Fusion gene ID: 27168 | Hgene | Tgene | Gene symbol | PIGU | UQCC1 | Gene ID | 128869 | 55245 |
| Gene name | phosphatidylinositol glycan anchor biosynthesis class U | ubiquinol-cytochrome c reductase complex assembly factor 1 | |
| Synonyms | CDC91L1|GAB1 | BFZB|C20orf44|CBP3|UQCC | |
| Cytomap | 20q11.22 | 20q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-li | ubiquinol-cytochrome-c reductase complex assembly factor 1bFGF-repressed Zic-binding proteinbasic FGF-repressed Zic-binding proteincytochrome B protein synthesis 3 homologubiquinol-cytochrome c reductase complex chaperone CBP3 homolog | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9H490 | Q9NVA1 | |
| Ensembl transtripts involved in fusion gene | ENST00000374820, ENST00000452740, ENST00000480175, | ENST00000349714, ENST00000359226, ENST00000374384, ENST00000374380, ENST00000374385, ENST00000374377, ENST00000397556, ENST00000407996, ENST00000540457, ENST00000542501, ENST00000397554, ENST00000491125, | |
| Fusion gene scores | * DoF score | 13 X 8 X 8=832 | 4 X 3 X 3=36 |
| # samples | 13 | 4 | |
| ** MAII score | log2(13/832*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PIGU [Title/Abstract] AND UQCC1 [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 | PIGU | GO:0006506 | GPI anchor biosynthetic process | 15034568 |
| Hgene | PIGU | GO:0046425 | regulation of JAK-STAT cascade | 15034568 |
| Tgene | UQCC1 | GO:0034551 | mitochondrial respiratory chain complex III assembly | 24385928 |
| Tgene | UQCC1 | GO:0070131 | positive regulation of mitochondrial translation | 24385928 |
| 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-BH-A0AU-01A | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| * 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 | ENST00000374820 | ENST00000349714 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000359226 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000374384 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000374380 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000374385 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000374377 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000397556 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000407996 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000540457 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000542501 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000374820 | ENST00000397554 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-5UTR | ENST00000374820 | ENST00000491125 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| In-frame | ENST00000452740 | ENST00000349714 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000359226 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000374384 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000374380 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000374385 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000374377 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000397556 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000407996 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000540457 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000542501 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-intron | ENST00000452740 | ENST00000397554 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| 5CDS-5UTR | ENST00000452740 | ENST00000491125 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-3CDS | ENST00000480175 | ENST00000349714 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000359226 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000374384 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000374380 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000374385 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000374377 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000397556 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000407996 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000540457 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000542501 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-intron | ENST00000480175 | ENST00000397554 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
| intron-5UTR | ENST00000480175 | ENST00000491125 | PIGU | chr20 | 33203846 | - | UQCC1 | chr20 | 33954417 | - |
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FusionProtFeatures for PIGU_UQCC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIGU | UQCC1 |
| Component of the GPI transamidase complex. May beinvolved in the recognition of either the GPI attachment signal orthe lipid portion of GPI. {ECO:0000269|PubMed:12802054}. |
| 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 PIGU_UQCC1 |
| 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. |
| >In-frame_PIGU_ENST00000452740_chr20_33203846_-_UQCC1_ENST00000349714_chr20_33954417_-_373aa MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRVVEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDAL TAIALYFAIQDFNKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTCAINNTLIAFFILTTIKGSAF LSAIFLALATYQSLYPLTLFVPGLLYLLQGVRCLIHSIHGFLXPYSTSGCVXSEXSRKAGVGSTCVVSXFILCGRMFSSAAESWGLIPIS XRRTXSSXQIISMQRSWDMMRGSFQMIMGWPLPSGEPSSTGNVKTLDILNCWXSMXGNRYSTWTPXTGRICFXQGRXAGALXWRRILRAS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PIGU_ENST00000452740_chr20_33203846_-_UQCC1_ENST00000349714_chr20_33954417_-_1121nt ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGGGT GTCAGATGCCTGATACATTCAATTCATGGTTTCTTATAACCCTACTCCACGTCTGGATGTGTCTAGTCCGAATGAAGCAGGAAGGCCGGA GTGGGAAGTACATGTGTCGTATCATAGTTCATTTTATGTGGGAGGATGTTCAGCAGCGCGGCAGAGTCATGGGGGTTAATCCCTATATCC TGAAGAAGAACATGATCCTCATGACAAATCATTTCTATGCAGCGATCTTGGGATATGATGAGGGGATCCTTTCAGATGATCATGGGCTGG CCGCTGCCCTCTGGAGAACCTTCTTCAACCGGAAATGTGAAGACCCTCGACATCTTGAATTGCTGGTAGAGTATGTGAGGAAACAGATAC AGTACCTGGACTCCATGAACGGGGAGGATCTGCTTCTGACAGGGGAGGTGAGCTGGCGCCCTCTAGTGGAGAAGAATCCTCAGAGCATCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PIGU_ENST00000452740_chr20_33203846_-_UQCC1_ENST00000349714_chr20_33954417_-_2490nt ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTCCGCTCCAGTCTGGCCGAGTTCATTTCCGAG CGGGTGGAGGTGGTGTCCCCACTGAGCTCTTGGAAGAGAGTGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA GCAGTATTTCATGAAACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCTGAATTGGTGTTTATGATAACTGATGCACTC ACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGTTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTGGCCCTGTTCTATCTCTTAAATCCTTACACG ATTTTGTCTTGTGTTGCCAAGTCTACCTGTGCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAGGCAGTGCTTTC CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTTGTCCCAGGACTCCTCTATCTCCTCCAGGGT GTCAGATGCCTGATACATTCAATTCATGGTTTCTTATAACCCTACTCCACGTCTGGATGTGTCTAGTCCGAATGAAGCAGGAAGGCCGGA GTGGGAAGTACATGTGTCGTATCATAGTTCATTTTATGTGGGAGGATGTTCAGCAGCGCGGCAGAGTCATGGGGGTTAATCCCTATATCC TGAAGAAGAACATGATCCTCATGACAAATCATTTCTATGCAGCGATCTTGGGATATGATGAGGGGATCCTTTCAGATGATCATGGGCTGG CCGCTGCCCTCTGGAGAACCTTCTTCAACCGGAAATGTGAAGACCCTCGACATCTTGAATTGCTGGTAGAGTATGTGAGGAAACAGATAC AGTACCTGGACTCCATGAACGGGGAGGATCTGCTTCTGACAGGGGAGGTGAGCTGGCGCCCTCTAGTGGAGAAGAATCCTCAGAGCATCC TGAAGCCCCATTCTCCGACTTACAACGACGAGGGACTTTGATGGGCTGGGCCCTCCGCACGGCCCGCCAGCTGGCTTCGAGGAACCTCCA GGAGAGAAGTGCCTGTTGGTCCAGGACCCTGCAGAAAGTGGCCTGAACTGACCTCTGAACAGCATCTGTCAAATACCTGGCCCCATTTGT GTTGAGTTTCCTCTTAGTGTGCCCAGGAGTCTGATCTGCTGGGGTACAGGGCTGGGAGAACCCCTAGCTCTCCCGGGGTGTCCTCTCCCT TAGGGGAAGCCCCGAGTGAGAGTCCCCCAGCACACACTCCCCAACCCCCTCCAGCAACTACATGTGACTGATAGCTTTTCCCAAAGGCCA AGGAAGGGATGGTGTAGGTTCAAAAGGGAAACCCCCCAGGGCCTGCTGTGGCCTAGGAGCAGATTGTAATGCTGCCGAGTCCGGTCGGTG ACCACGCGTTGTCCCTCGGCTTTCAGCCATGGGGTTGAGTTGGCCATTAAAAGAAACAGAGACTTCTCTCTGCCATGGCCCTTCTTTATT CCAGGGACTTAGAAACTTGCCTGAGATGGTGGACGCAGTAATGAGGGCACCGCGCAGCTCAGTTAGAGACGGAGAAAGGGAAGAGGCTGG GATGGTCTCTGCTGCTCTTGCCTCTAGTTCATGGAGATGTGTCTCTGTTCAGGCCAAGATACAGCCAGCCAGGCCTGTCGTCTGGGACCC AGGAGGCCTCTGATGACCAAGGGCTTTCACATCCTAAGTCATTTGGAAGGAGGCCTTGAGAACAAAGTCACCTTTGTCACTCCCAGTGAA CTGAATGAGGAACATGCTGTCTCCTGTCTTGGCCTCCCCTTTCATGAGATACTGGGGAGAAGAGAACATTCCTCCTGGCTTAGTTGTAGC AGACCCAGACCTGTGCCCAGCTTTGGTCCCCCTTCCCAACTTCTGAAGCACGTGCTGCAGAGCCACCTTGGTCTGAGCACCTGAGGACCA GCCCCTCCTCCCTCAGTGCGGGTCATCTCTTGGGGGATTTTCTTAAAGTGAAGAAAGGGGGTGGGGAACCATATTGCCCCTCCCTCCCCC ATCAAACTTCCTTCATTTAACTTGCTATAAAATGAGTCATATAAAGAAACTCTATATGGGTGAGGTATATCCCACTTCTGTGAAAACATT ACAAATCAAACCGCTTCTCTCAGTTTATTTAAGATGCTTTTGTTGCGAGCGGAGCTCTAGAGTGAAGCCTCCTGTGTGTGTGTGAGATAA TAACACCTTGTAACTCATTACAGCTGGGCACTATTTACATAAACCAGAGCTGAGCCAGGCAGGAATTTGCTGATTAATTTATTTTTAATG |
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FusionGenePPI for PIGU_UQCC1 |
| 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 |
| PIGU | GPAA1, PIGS, PIGK, PIGT, HS2ST1, KITLG, NRG1, AGTR1, TXNDC15, B3GNT3, LYPD3, PRSS50, ERGIC3, GAL3ST1, FNDC4, LPAR1, GLRA2, PVRL4, CLEC5A, TCTN2, TCTN3, TMEM17, VNN2, SPPL2B, YIPF3, SLC6A15, CDH13, STOM | UQCC1 | BRCA2, UQCC2, ECHDC2, LRRC46, MRM1, COX20, LPAR1, OXLD1, TRUB2, NDUFA4, SBF1, TM2D2, P3H1, CSNK1E, FADS1, MRPL10, CDH13, YARS2, FECH, CLPP, NDUFA13, CDIPT, SLX1A, C3AR1, CDR2, 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 PIGU_UQCC1 |
| 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 PIGU_UQCC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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