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Fusion gene ID: 26424 |
FusionGeneSummary for PDE6B_INO80 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDE6B_INO80 | Fusion gene ID: 26424 | Hgene | Tgene | Gene symbol | PDE6B | INO80 | Gene ID | 5158 | 54617 |
| Gene name | phosphodiesterase 6B | INO80 complex subunit | |
| Synonyms | CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1 | INO80A|INOC1|hINO80 | |
| Cytomap | 4p16.3 | 15q15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunit | DNA helicase INO80INO80 complex subunit AINO80 homologhomolog of yeast INO80putative DNA helicase INO80 complex homolog 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P35913 | Q9ULG1 | |
| Ensembl transtripts involved in fusion gene | ENST00000255622, ENST00000496514, ENST00000429163, | ENST00000361937, ENST00000401393, ENST00000561244, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 3=108 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDE6B [Title/Abstract] AND INO80 [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 |
| 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 | BU741962 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| * 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-intron | ENST00000255622 | ENST00000361937 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| 3UTR-intron | ENST00000255622 | ENST00000401393 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| 3UTR-intron | ENST00000255622 | ENST00000561244 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| 3UTR-intron | ENST00000496514 | ENST00000361937 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| 3UTR-intron | ENST00000496514 | ENST00000401393 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| 3UTR-intron | ENST00000496514 | ENST00000561244 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| intron-intron | ENST00000429163 | ENST00000361937 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| intron-intron | ENST00000429163 | ENST00000401393 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
| intron-intron | ENST00000429163 | ENST00000561244 | PDE6B | chr4 | 664297 | - | INO80 | chr15 | 41291127 | + |
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FusionProtFeatures for PDE6B_INO80 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDE6B | INO80 |
| This protein participates in processes of transmissionand amplification of the visual signal. Necessary for theformation of a functional phosphodiesterase holoenzyme. | ATPase component of the chromatin remodeling INO80complex which is involved in transcriptional regulation, DNAreplication and DNA repair (PubMed:16230350, PubMed:16298340,PubMed:17721549, PubMed:20855601, PubMed:20237820). Binds DNA(PubMed:16298340, PubMed:21303910). As part of the INO80 complex,remodels chromatin by shifting nucleosomes (PubMed:16230350,PubMed:21303910). Regulates transcription upon recruitment by YY1to YY1-activated genes, where it acts as an essential coactivator(PubMed:17721549). Involved in UV-damage excision DNA repair(PubMed:20855601). The contribution to DNA double-strand breakrepair appears to be largely indirect through transcriptionalregulation (PubMed:20687897). Involved in DNA replication(PubMed:20237820). Required for microtubule assembly duringmitosis thereby regulating chromosome segregation cycle(PubMed:20237820). {ECO:0000269|PubMed:16230350,ECO:0000269|PubMed:16298340, ECO:0000269|PubMed:17721549,ECO:0000269|PubMed:20237820, ECO:0000269|PubMed:20687897,ECO:0000269|PubMed:20855601, ECO:0000269|PubMed:21303910}. |
| 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 PDE6B_INO80 |
| 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 PDE6B_INO80 |
| 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 PDE6B_INO80 |
| 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 PDE6B_INO80 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDE6B | C3151107 | RETINITIS PIGMENTOSA 40 (disorder) | 7 | UNIPROT |
| Hgene | PDE6B | C0035304 | Retinal Degeneration | 4 | CTD_human |
| Hgene | PDE6B | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;HPO;ORPHANET |
| Hgene | PDE6B | C0339535 | Night blindness, congenital stationary | 1 | CTD_human;HPO;ORPHANET |
| Hgene | PDE6B | C1876182 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 | 1 | CTD_human;UNIPROT |
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