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Fusion gene ID: 29271 |
FusionGeneSummary for PTBP2_ZNF609 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTBP2_ZNF609 | Fusion gene ID: 29271 | Hgene | Tgene | Gene symbol | PTBP2 | ZNF609 | Gene ID | 58155 | 23060 |
| Gene name | polypyrimidine tract binding protein 2 | zinc finger protein 609 | |
| Synonyms | PTBLP|brPTB|nPTB | - | |
| Cytomap | 1p21.3 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polypyrimidine tract-binding protein 2PTB-like proteinneural polypyrimidine tract binding proteinneurally-enriched homolog of PTB | zinc finger protein 609 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9UKA9 | O15014 | |
| Ensembl transtripts involved in fusion gene | ENST00000482253, ENST00000609116, ENST00000370197, ENST00000370198, ENST00000426398, ENST00000394184, ENST00000541987, | ENST00000326648, ENST00000416172, ENST00000559364, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 7 X 9 X 3=189 |
| # samples | 4 | 10 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/189*10)=-0.918386234446348 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PTBP2 [Title/Abstract] AND ZNF609 [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 | PTBP2 | GO:0033119 | negative regulation of RNA splicing | 18335065 |
| Tgene | ZNF609 | GO:2000291 | regulation of myoblast proliferation | 28344082 |
| 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 | BF742982 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| * 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-3UTR | ENST00000482253 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000482253 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000482253 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000609116 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000609116 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000609116 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000370197 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000370197 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000370197 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000370198 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000370198 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000370198 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000426398 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000426398 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000426398 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000394184 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000394184 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000394184 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-3UTR | ENST00000541987 | ENST00000326648 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000541987 | ENST00000416172 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
| intron-intron | ENST00000541987 | ENST00000559364 | PTBP2 | chr1 | 97232474 | - | ZNF609 | chr15 | 64978180 | - |
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FusionProtFeatures for PTBP2_ZNF609 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTBP2 | ZNF609 |
| RNA-binding protein which binds to intronicpolypyrimidine tracts and mediates negative regulation of exonssplicing. May antagonize in a tissue-specific manner the abilityof NOVA1 to activate exon selection. In addition to its functionin pre-mRNA splicing, plays also a role in the regulation oftranslation. Isoform 5 has a reduced affinity for RNA.{ECO:0000269|PubMed:11003644, ECO:0000269|PubMed:12667457}. | Transcription factor, which activates RAG1, and possiblyRAG2, transcription. Through the regulation of RAG1/2 expression,may regulate thymocyte maturation. Along with NIPBL and themultiprotein complex Integrator, promotes cortical neuronmigration during brain development by regulating the transcriptionof crucial genes in this process. Preferentially binds promoterscontaining paused RNA polymerase II. Up-regulates the expressionof SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.{ECO:0000250|UniProtKB:Q8BZ47}. Isoform 2: Involved in the regulation of myoblastproliferation during myogenesis. {ECO:0000269|PubMed:28344082}. |
| 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 PTBP2_ZNF609 |
| 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 PTBP2_ZNF609 |
| 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 PTBP2_ZNF609 |
| 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 PTBP2_ZNF609 |
| 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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