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Fusion gene ID: 4446 |
FusionGeneSummary for BRK1_POLR3C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BRK1_POLR3C | Fusion gene ID: 4446 | Hgene | Tgene | Gene symbol | BRK1 | POLR3C | Gene ID | 55845 | 10623 |
| Gene name | BRICK1, SCAR/WAVE actin nucleating complex subunit | RNA polymerase III subunit C | |
| Synonyms | C3orf10|HSPC300|MDS027|hHBrk1 | RPC3|RPC62 | |
| Cytomap | 3p25.3 | 1q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein BRICK1haematopoietic stem/progenitor cell protein 300 | DNA-directed RNA polymerase III subunit RPC3DNA-directed III 62 kDa polypeptideDNA-directed RNA polymerase III subunit CRNA polymerase III 62 kDa subunitRNA polymerase III subunit C3polymerase (RNA) III (DNA directed) polypeptide C (62kD)polymerase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8WUW1 | Q9BUI4 | |
| Ensembl transtripts involved in fusion gene | ENST00000530758, ENST00000256463, | ENST00000334163, ENST00000369294, ENST00000471254, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 3 X 4 X 2=24 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/50*10)=0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BRK1 [Title/Abstract] AND POLR3C [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 | BRK1 | GO:0016601 | Rac protein signal transduction | 21107423 |
| Hgene | BRK1 | GO:0070207 | protein homotrimerization | 18560548 |
| Hgene | BRK1 | GO:2000601 | positive regulation of Arp2/3 complex-mediated actin nucleation | 21107423 |
| 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 | W23948 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| * 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-3CDS | ENST00000530758 | ENST00000334163 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| 3UTR-3CDS | ENST00000530758 | ENST00000369294 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| 3UTR-5UTR | ENST00000530758 | ENST00000471254 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| Frame-shift | ENST00000256463 | ENST00000334163 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| Frame-shift | ENST00000256463 | ENST00000369294 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
| 5CDS-5UTR | ENST00000256463 | ENST00000471254 | BRK1 | chr3 | 10168040 | + | POLR3C | chr1 | 145606321 | - |
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FusionProtFeatures for BRK1_POLR3C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BRK1 | POLR3C |
| Involved in regulation of actin and microtubuleorganization. Part of a WAVE complex that activates the Arp2/3complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (Bysimilarity). {ECO:0000250|UniProtKB:Q91VR8,ECO:0000269|PubMed:18560548}. | DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Specific core component of RNA polymerase III whichsynthesizes small RNAs, such as 5S rRNA and tRNAs. May direct withother members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May beinvolved either in the recruitment and stabilization of thesubcomplex within RNA polymerase III, or in stimulating catalyticfunctions of other subunits during initiation. Plays a key role insensing and limiting infection by intracellular bacteria and DNAviruses. Acts as nuclear and cytosolic DNA sensor involved ininnate immune response. Can sense non-self dsDNA that serves astemplate for transcription into dsRNA. The non-self RNA polymeraseIII transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs)induce type I interferon and NF- Kappa-B through the RIG-Ipathway. Preferentially binds single-stranded DNA (ssDNA) in asequence-independent manner (PubMed:21358628).{ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370,ECO:0000269|PubMed:21358628}. |
| 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 BRK1_POLR3C |
| 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 BRK1_POLR3C |
| 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 BRK1_POLR3C |
| 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 BRK1_POLR3C |
| 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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