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Fusion gene ID: 26113 |
FusionGeneSummary for PBX1_COPG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PBX1_COPG2 | Fusion gene ID: 26113 | Hgene | Tgene | Gene symbol | PBX1 | COPG2 | Gene ID | 5087 | 26958 |
| Gene name | PBX homeobox 1 | coatomer protein complex subunit gamma 2 | |
| Synonyms | CAKUHED | 2-COP|gamma-2-COP | |
| Cytomap | 1q23.3 | 7q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1 | coatomer subunit gamma-2coat protein, nonclathrin, gamma-2-copgamma-2-coat proteintesticular secretory protein Li 12 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P40424 | Q9UBF2 | |
| Ensembl transtripts involved in fusion gene | ENST00000420696, ENST00000401534, ENST00000559240, ENST00000367897, ENST00000540236, ENST00000560641, ENST00000474046, ENST00000485769, ENST00000540246, | ENST00000445977, | |
| Fusion gene scores | * DoF score | 13 X 6 X 3=234 | 1 X 1 X 1=1 |
| # samples | 15 | 1 | |
| ** MAII score | log2(15/234*10)=-0.641546029087524 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PBX1 [Title/Abstract] AND COPG2 [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 | COPG2 | GO:0006891 | intra-Golgi vesicle-mediated transport | 11056392 |
| 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 | RV | BRCA | TCGA-A2-A1FW-01A | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| * 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-intron | ENST00000420696 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| 5CDS-intron | ENST00000401534 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| 5CDS-intron | ENST00000559240 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| 5CDS-intron | ENST00000367897 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| 5CDS-intron | ENST00000540236 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| intron-intron | ENST00000560641 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| intron-intron | ENST00000474046 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| intron-intron | ENST00000485769 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
| intron-intron | ENST00000540246 | ENST00000445977 | PBX1 | chr1 | 164532548 | + | COPG2 | chr7 | 130148500 | - |
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FusionProtFeatures for PBX1_COPG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PBX1 | COPG2 |
| Binds the sequence 5'-ATCAATCAA-3'. Acts as atranscriptional activator of PF4 in complex with MEIS1. Convertedinto a potent transcriptional activator by the (1;19)translocation. May have a role in steroidogenesis and,subsequently, sexual development and differentiation. IsoformPBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinarcells is involved in the transcriptional activation of the ELA1enhancer; the complex binds to the enhancer B element andcooperates with the transcription factor 1 complex (PTF1) bound tothe enhancer A element. Probably in complex with MEIS2, isinvolved in transcriptional regulation by KLF4. Acts as atranscriptional activator of NKX2-5 and a transcriptionalrepressor of CDKN2B. Together with NKX2-5, it is required forspleen development through a mechanism that involves CDKN2Brepression (By similarity). {ECO:0000250,ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:21746878}. | The coatomer is a cytosolic protein complex that bindsto dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosyntheticprotein transport from the ER, via the Golgi up to the trans Golginetwork. Coatomer complex is required for budding from Golgimembranes, and is essential for the retrograde Golgi-to-ERtransport of dilysine-tagged proteins. In mammals, the coatomercan only be recruited by membranes associated to ADP-ribosylationfactors (ARFs), which are small GTP-binding proteins; the complexalso influences the Golgi structural integrity, as well as theprocessing, activity, and endocytic recycling of LDL receptors (Bysimilarity). {ECO:0000250}. |
| 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 PBX1_COPG2 |
| 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 PBX1_COPG2 |
| 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 |
| PBX1 | MYH10, HOXB7, MEIS1, HOXA9, HOXD4, HOXD9, PKNOX1, HOXB1, HOXB8, NR3C1, MYOD1, MEIS2, HOXA10, SMARCA4, HDAC1, HDAC3, SIN3B, POU2F1, CREBBP, PDX1, ELAVL1, NEDD4L, HOXC8, KAT2A, MDM2, UCHL3, SMARCD3, LMX1B, MAGEA1, MAB21L1, MAB21L2, RBPJ, FOXA1, FOXC1, FOXE1, FOXQ1, TRAF1, FAM222A, VWA5A, C5orf24, CCDC120, C16orf71, ESR1 | COPG2 | COPB1, COPG1, MAGED1, DRD1, PMS2, MYC, ELAVL1, SIRT7, COPB2, COPA, COPG2, ARCN1, COPE, COPZ1, NDUFB8, ECT2, HES4, FBXO6, NUDCD1, STAU1, SHMT2, CD74, ATP1B2, HTR6, NTRK1, TMED10, HERC2, XPO1, MCM2, SNW1, CDC5L, SENP3, CDH1, PTPRD, TES |
| - 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 PBX1_COPG2 |
| 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 PBX1_COPG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PBX1 | C0006413 | Burkitt Lymphoma | 2 | CTD_human |
| Hgene | PBX1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | COPG2 | C0043094 | Weight Gain | 1 | CTD_human |
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