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Fusion gene ID: 24596 |
FusionGeneSummary for NOP56_RBPMS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NOP56_RBPMS | Fusion gene ID: 24596 | Hgene | Tgene | Gene symbol | NOP56 | RBPMS | Gene ID | 10528 | 11030 |
| Gene name | NOP56 ribonucleoprotein | RNA binding protein, mRNA processing factor | |
| Synonyms | NOL5A|SCA36 | HERMES | |
| Cytomap | 20p13 | 8p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleolar protein 56NOP56 ribonucleoprotein homolognucleolar protein 5A (56kDa with KKE/D repeat) | RNA-binding protein with multiple splicingRNA binding protein with multiple splicingheart and RRM expressed sequence | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O00567 | Q93062 | |
| Ensembl transtripts involved in fusion gene | ENST00000329276, ENST00000492135, | ENST00000538486, ENST00000397323, ENST00000320203, ENST00000287771, ENST00000339877, ENST00000517860, ENST00000520161, ENST00000519647, ENST00000520191, ENST00000520916, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 7 X 7 X 4=196 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(8/196*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NOP56 [Title/Abstract] AND RBPMS [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 | RBPMS | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 17099224 |
| Tgene | RBPMS | GO:0060391 | positive regulation of SMAD protein signal transduction | 17099224 |
| 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 | AV759376 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| * 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 | ENST00000329276 | ENST00000538486 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000397323 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000320203 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000287771 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000339877 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000517860 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000520161 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000519647 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000520191 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000329276 | ENST00000520916 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000538486 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000397323 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000320203 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000287771 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000339877 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000517860 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000520161 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000519647 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000520191 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
| intron-intron | ENST00000492135 | ENST00000520916 | NOP56 | chr20 | 2637652 | + | RBPMS | chr8 | 30385662 | + |
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FusionProtFeatures for NOP56_RBPMS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NOP56 | RBPMS |
| Involved in the early to middle stages of 60S ribosomalsubunit biogenesis. Core component of box C/D small nucleolarribonucleoprotein (snoRNP) particles. Required for the biogenesisof box C/D snoRNAs such U3, U8 and U14 snoRNAs.{ECO:0000269|PubMed:12777385, ECO:0000269|PubMed:15574333}. | Acts as a coactivator of transcriptional activity.Required to increase TGFB1/Smad-mediated transactivation. Actsthrough SMAD2, SMAD3 and SMAD4 to increase transcriptionalactivity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1.Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4proteins (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224,PubMed:26347403). {ECO:0000269|PubMed:17099224,ECO:0000269|PubMed:26347403}. |
| 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 NOP56_RBPMS |
| 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 NOP56_RBPMS |
| 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 NOP56_RBPMS |
| 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 NOP56_RBPMS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NOP56 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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