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Fusion gene ID: 28503 |
FusionGeneSummary for PPP4R2_CTPS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP4R2_CTPS1 | Fusion gene ID: 28503 | Hgene | Tgene | Gene symbol | PPP4R2 | CTPS1 | Gene ID | 151987 | 1503 |
| Gene name | protein phosphatase 4 regulatory subunit 2 | CTP synthase 1 | |
| Synonyms | PP4R2 | CTPS|GATD5|IMD24 | |
| Cytomap | 3p13 | 1p34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 4 regulatory subunit 2 | CTP synthase 1CTP synthetase 1UTP--ammonia ligase 1cytidine 5'-triphosphate synthetasecytidine 5-prime triphosphate synthetase | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9NY27 | P17812 | |
| Ensembl transtripts involved in fusion gene | ENST00000356692, ENST00000295862, ENST00000394284, ENST00000495566, | ENST00000372621, ENST00000541520, ENST00000475060, ENST00000543104, ENST00000372616, | |
| Fusion gene scores | * DoF score | 5 X 2 X 5=50 | 5 X 5 X 4=100 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/50*10)=0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPP4R2 [Title/Abstract] AND CTPS1 [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 | CTPS1 | GO:0006241 | CTP biosynthetic process | 16179339 |
| 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 | BF876536 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| * 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-3CDS | ENST00000356692 | ENST00000372621 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000356692 | ENST00000541520 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000356692 | ENST00000475060 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000356692 | ENST00000543104 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000356692 | ENST00000372616 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000295862 | ENST00000372621 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000295862 | ENST00000541520 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000295862 | ENST00000475060 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000295862 | ENST00000543104 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000295862 | ENST00000372616 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000394284 | ENST00000372621 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000394284 | ENST00000541520 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000394284 | ENST00000475060 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000394284 | ENST00000543104 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000394284 | ENST00000372616 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000495566 | ENST00000372621 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-3CDS | ENST00000495566 | ENST00000541520 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000495566 | ENST00000475060 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000495566 | ENST00000543104 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
| intron-intron | ENST00000495566 | ENST00000372616 | PPP4R2 | chr3 | 73063651 | - | CTPS1 | chr1 | 41475144 | + |
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FusionProtFeatures for PPP4R2_CTPS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP4R2 | CTPS1 |
| Regulatory subunit of serine/threonine-proteinphosphatase 4 (PP4). May regulate the activity of PPP4C atcentrosomal microtubule organizing centers. Its interaction withthe SMN complex leads to enhance the temporal localization ofsnRNPs, suggesting a role of PPP4C in maturation of spliceosomalsnRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specificallydephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX)generated during DNA replication and required for DNA doublestrand break repair. Mediates RPA2 dephosphorylation by recruitingPPP4C to RPA2 in a DNA damage-dependent manner. RPA2dephosphorylation is required for the efficient RPA2-mediatedrecruitment of RAD51 to chromatin following double strand breaks,an essential step for DNA repair. {ECO:0000269|PubMed:10769191,ECO:0000269|PubMed:12668731, ECO:0000269|PubMed:18614045,ECO:0000269|PubMed:20154705}. | This enzyme is involved in the de novo synthesis of CTP,a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine orammonia as a source of nitrogen. This enzyme and its product, CTP,play a crucial role in the proliferation of activated lymphocytesand therefore in immunity. {ECO:0000269|PubMed:16179339,ECO:0000269|PubMed:24870241}. |
| 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 PPP4R2_CTPS1 |
| 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 PPP4R2_CTPS1 |
| 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 PPP4R2_CTPS1 |
| 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 |
| Tgene | CTPS1 | P17812 | DB00130 | L-Glutamine | CTP synthase 1 {ECO:0000305} | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for PPP4R2_CTPS1 |
| 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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