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Fusion gene ID: 4580 |
FusionGeneSummary for BUB1_RGS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BUB1_RGS2 | Fusion gene ID: 4580 | Hgene | Tgene | Gene symbol | BUB1 | RGS2 | Gene ID | 699 | 5997 |
| Gene name | BUB1 mitotic checkpoint serine/threonine kinase | regulator of G protein signaling 2 | |
| Synonyms | BUB1A|BUB1L|hBUB1 | G0S8 | |
| Cytomap | 2q13 | 1q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitotic checkpoint serine/threonine-protein kinase BUB1BUB1 budding uninhibited by benzimidazoles 1 homologbudding uninhibited by benzimidazoles 1 homologmitotic spindle checkpoint kinaseputative serine/threonine-protein kinase | regulator of G-protein signaling 2G0 to G1 switch regulatory 8, 24kDG0/G1 switch regulatory protein 8cell growth-inhibiting gene 31 proteincell growth-inhibiting protein 31regulator of G-protein signaling 2, 24kDa | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O43683 | P41220 | |
| Ensembl transtripts involved in fusion gene | ENST00000535254, ENST00000409311, ENST00000302759, ENST00000478175, | ENST00000483295, ENST00000235382, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: BUB1 [Title/Abstract] AND RGS2 [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 | BUB1 | GO:0007063 | regulation of sister chromatid cohesion | 15723797 |
| 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 | AU119852 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| * 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 | ENST00000535254 | ENST00000483295 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000535254 | ENST00000235382 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000409311 | ENST00000483295 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000409311 | ENST00000235382 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000302759 | ENST00000483295 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000302759 | ENST00000235382 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000478175 | ENST00000483295 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
| intron-intron | ENST00000478175 | ENST00000235382 | BUB1 | chr2 | 111425124 | - | RGS2 | chr1 | 192780565 | + |
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FusionProtFeatures for BUB1_RGS2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BUB1 | RGS2 |
| Serine/threonine-protein kinase that performs 2 crucialfunctions during mitosis: it is essential for spindle-assemblycheckpoint signaling and for correct chromosome alignment. Has akey role in the assembly of checkpoint proteins at thekinetochore, being required for the subsequent localization ofCENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochorelocalization of PLK1. Required for centromeric enrichment of AUKRBin prometaphase. Plays an important role in defining SGO1localization and thereby affects sister chromatid cohesion. Actsas a substrate for anaphase-promoting complex or cyclosome (APC/C)in complex with its activator CDH1 (APC/C-Cdh1). Necessary forensuring proper chromosome segregation and binding to BUB3 isessential for this function. Can regulate chromosome segregationin a kinetochore-independent manner. Can phosphorylate BUB3. TheBUB1-BUB3 complex plays a role in the inhibition of APC/C whenspindle-assembly checkpoint is activated and inhibits theubiquitin ligase activity of APC/C by phosphorylating itsactivator CDC20. This complex can also phosphorylate MAD1L1.Kinase activity is essential for inhibition of APC/CCDC20 and forchromosome alignment but does not play a major role in thespindle-assembly checkpoint activity. Mediates cell death inresponse to chromosome missegregation and acts to suppressspontaneous tumorigenesis. {ECO:0000269|PubMed:10198256,ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:15525512,ECO:0000269|PubMed:15723797, ECO:0000269|PubMed:16760428,ECO:0000269|PubMed:17158872, ECO:0000269|PubMed:19487456,ECO:0000269|PubMed:20739936}. | Regulates G protein-coupled receptor signaling cascades.Inhibits signal transduction by increasing the GTPase activity ofG protein alpha subunits, thereby driving them into their inactiveGDP-bound form (PubMed:11063746, PubMed:19478087). It is involvedin the negative regulation of the angiotensin-activated signalingpathway (PubMed:28784619). Plays a role in the regulation of bloodpressure in response to signaling via G protein-coupled receptorsand GNAQ. Plays a role in regulating the constriction andrelaxation of vascular smooth muscle (By similarity). Binds EIF2B5and blocks its activity, thereby inhibiting the translation ofmRNA into protein (PubMed:19736320).{ECO:0000250|UniProtKB:O08849, ECO:0000269|PubMed:11063746,ECO:0000269|PubMed:11278586, ECO:0000269|PubMed:17901199,ECO:0000269|PubMed:19736320, ECO:0000269|PubMed:28784619,ECO:0000305|PubMed:7643615}. |
| 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 BUB1_RGS2 |
| 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 BUB1_RGS2 |
| 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 BUB1_RGS2 |
| 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 BUB1_RGS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RGS2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | RGS2 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | RGS2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Tgene | RGS2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | RGS2 | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
| Tgene | RGS2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | RGS2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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