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Fusion gene ID: 26226 |
FusionGeneSummary for PCGF3_PDE6B |
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Fusion gene information | Fusion gene name: PCGF3_PDE6B | Fusion gene ID: 26226 | Hgene | Tgene | Gene symbol | PCGF3 | PDE6B | Gene ID | 10336 | 5158 |
Gene name | polycomb group ring finger 3 | phosphodiesterase 6B | |
Synonyms | DONG1|RNF3|RNF3A | CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1 | |
Cytomap | 4p16.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | polycomb group RING finger protein 3RING finger protein 3Aring finger protein 3 | rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunit | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q3KNV8 | P35913 | |
Ensembl transtripts involved in fusion gene | ENST00000362003, ENST00000400151, ENST00000482726, ENST00000470161, ENST00000521023, ENST00000505655, | ENST00000255622, ENST00000496514, ENST00000429163, | |
Fusion gene scores | * DoF score | 11 X 7 X 7=539 | 3 X 3 X 3=27 |
# samples | 11 | 3 | |
** MAII score | log2(11/539*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PCGF3 [Title/Abstract] AND PDE6B [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
TCGA | LD | CESC | TCGA-DS-A1OC-01A | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000362003 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000362003 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-5UTR | ENST00000362003 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000400151 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000400151 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-5UTR | ENST00000400151 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
3UTR-3CDS | ENST00000482726 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
3UTR-3CDS | ENST00000482726 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
3UTR-5UTR | ENST00000482726 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000470161 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000470161 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-5UTR | ENST00000470161 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000521023 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-3CDS | ENST00000521023 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
5UTR-5UTR | ENST00000521023 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
intron-3CDS | ENST00000505655 | ENST00000255622 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
intron-3CDS | ENST00000505655 | ENST00000496514 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
intron-5UTR | ENST00000505655 | ENST00000429163 | PCGF3 | chr4 | 699759 | + | PDE6B | chr4 | 647641 | + |
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FusionProtFeatures for PCGF3_PDE6B |
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Hgene | Tgene |
PCGF3 | PDE6B |
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility. Within the PRC1-likecomplex, regulates RNF2 ubiquitin ligase activity(PubMed:26151332). Plays a redundant role with PCGF5 as part of aPRC1-like complex that mediates monoubiquitination of histone H2A'Lys-119' on the X chromosome and is required for normal silencingof one copy of the X chromosome in XX females (By similarity).{ECO:0000250|UniProtKB:Q8BTQ0, ECO:0000269|PubMed:26151332}. | This protein participates in processes of transmissionand amplification of the visual signal. Necessary for theformation of a functional phosphodiesterase holoenzyme. |
![]() * 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 PCGF3_PDE6B |
![]() (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 PCGF3_PDE6B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PCGF3 | RNF2, RING1, RYBP, YAF2, CBX4, MGA, BCORL1, KDM2B, USP7, AUTS2, FBRS, FBRSL1, CSNK2A1, CSNK2A2, CSNK2B, HSP90AA1, CBX8, CBX7, CBX6, BCOR, BMI1, TRIM9, DZIP3, UBE2C, PHC2, PCGF3, UBE2D3, DCAF7, UBE2E3, KIAA0430, HELZ, CREBBP, EIF4ENIF1, ARID3A, SOWAHA, PAN2, NISCH, RB1, TRIM25 | PDE6B | PPP1CC |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PCGF3_PDE6B |
![]() (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 PCGF3_PDE6B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PDE6B | C3151107 | RETINITIS PIGMENTOSA 40 (disorder) | 7 | UNIPROT |
Tgene | PDE6B | C0035304 | Retinal Degeneration | 4 | CTD_human |
Tgene | PDE6B | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;HPO;ORPHANET |
Tgene | PDE6B | C0339535 | Night blindness, congenital stationary | 1 | CTD_human;HPO;ORPHANET |
Tgene | PDE6B | C1876182 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 | 1 | CTD_human;UNIPROT |