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Fusion gene ID: 6814 |
FusionGeneSummary for CEP250_POLR2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CEP250_POLR2A | Fusion gene ID: 6814 | Hgene | Tgene | Gene symbol | CEP250 | POLR2A | Gene ID | 11190 | 5430 |
| Gene name | centrosomal protein 250 | RNA polymerase II subunit A | |
| Synonyms | C-NAP1|CEP2|CNAP1 | POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1 | |
| Cytomap | 20q11.22 | 17p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | centrosome-associated protein CEP250250 kDa centrosomal proteincentrosomal Nek2-associated protein 1 | DNA-directed RNA polymerase II subunit RPB1DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunitDNA-directed RNA polymerase II subunit ADNA-directed RNA polymerase III largest subunitRNA polymerase II subunit B1RNA-directed | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BV73 | P24928 | |
| Ensembl transtripts involved in fusion gene | ENST00000397527, ENST00000342580, ENST00000476146, ENST00000397524, | ENST00000322644, ENST00000572844, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 7 X 1=49 |
| # samples | 2 | 10 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(10/49*10)=1.02914634565952 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CEP250 [Title/Abstract] AND POLR2A [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 | CEP250 | GO:0000278 | mitotic cell cycle | 12140259 |
| Hgene | CEP250 | GO:0030997 | regulation of centriole-centriole cohesion | 9647649 |
| Tgene | POLR2A | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Tgene | POLR2A | GO:0033120 | positive regulation of RNA splicing | 21536736 |
| 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 | BF805544 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| * 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 | ENST00000397527 | ENST00000322644 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| 5CDS-intron | ENST00000397527 | ENST00000572844 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| Frame-shift | ENST00000342580 | ENST00000322644 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| 5CDS-intron | ENST00000342580 | ENST00000572844 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| intron-3CDS | ENST00000476146 | ENST00000322644 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| intron-intron | ENST00000476146 | ENST00000572844 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| intron-3CDS | ENST00000397524 | ENST00000322644 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
| intron-intron | ENST00000397524 | ENST00000572844 | CEP250 | chr20 | 34095612 | + | POLR2A | chr17 | 7416611 | + |
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FusionProtFeatures for CEP250_POLR2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CEP250 | POLR2A |
| Probably plays an important role in centrosome cohesionduring interphase. | DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic component of RNA polymerase IIwhich synthesizes mRNA precursors and many functional non-codingRNAs. Forms the polymerase active center together with the secondlargest subunit. Pol II is the central component of the basal RNApolymerase II transcription machinery. It is composed of mobileelements that move relative to each other. RPB1 is part of thecore element with the central large cleft, the clamp element thatmoves to open and close the cleft and the jaws that are thought tograb the incoming DNA template. At the start of transcription, asingle-stranded DNA template strand of the promoter is positionedwithin the central active site cleft of Pol II. A bridging helixemanates from RPB1 and crosses the cleft near the catalytic siteand is thought to promote translocation of Pol II by acting as aratchet that moves the RNA-DNA hybrid through the active site byswitching from straight to bent conformations at each step ofnucleotide addition. During transcription elongation, Pol II moveson the template as the transcript elongates. Elongation isinfluenced by the phosphorylation status of the C-terminal domain(CTD) of Pol II largest subunit (RPB1), which serves as a platformfor assembly of factors that regulate transcription initiation,elongation, termination and mRNA processing. Regulation of geneexpression levels depends on the balance between methylation andacetylation levels of tha CTD-lysines (By similarity). Initiationor early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylationstatus of the CTD (PubMed:24207025). Methylation and dimethylationhave a repressive effect on target genes expression (Bysimilarity). {ECO:0000250|UniProtKB:P08775,ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:23748380,ECO:0000269|PubMed:24207025, ECO:0000269|PubMed:9852112}. (Microbial infection) Acts as an RNA-dependent RNApolymerase when associated with small delta antigen of Hepatitisdelta virus, acting both as a replicate and transcriptase for theviral RNA circular genome. {ECO:0000269|PubMed:18032511}. |
| 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 CEP250_POLR2A |
| 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 CEP250_POLR2A |
| 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 CEP250_POLR2A |
| 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 CEP250_POLR2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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