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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 26226

FusionGeneSummary for PCGF3_PDE6B

check button Fusion gene summary
Fusion gene informationFusion gene name: PCGF3_PDE6B
Fusion gene ID: 26226
HgeneTgene
Gene symbol

PCGF3

PDE6B

Gene ID

10336

5158

Gene namepolycomb group ring finger 3phosphodiesterase 6B
SynonymsDONG1|RNF3|RNF3ACSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionpolycomb group RING finger protein 3RING finger protein 3Aring finger protein 3rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunit
Modification date2018052320180522
UniProtAcc

Q3KNV8

P35913

Ensembl transtripts involved in fusion geneENST00000362003, ENST00000400151, 
ENST00000482726, ENST00000470161, 
ENST00000521023, ENST00000505655, 
ENST00000255622, ENST00000496514, 
ENST00000429163, 
Fusion gene scores* DoF score11 X 7 X 7=5393 X 3 X 3=27
# samples 113
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDCESCTCGA-DS-A1OC-01APCGF3chr4

699759

+PDE6Bchr4

647641

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000362003ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000362003ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-5UTRENST00000362003ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000400151ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000400151ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-5UTRENST00000400151ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+
3UTR-3CDSENST00000482726ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
3UTR-3CDSENST00000482726ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
3UTR-5UTRENST00000482726ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000470161ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000470161ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-5UTRENST00000470161ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000521023ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-3CDSENST00000521023ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
5UTR-5UTRENST00000521023ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+
intron-3CDSENST00000505655ENST00000255622PCGF3chr4

699759

+PDE6Bchr4

647641

+
intron-3CDSENST00000505655ENST00000496514PCGF3chr4

699759

+PDE6Bchr4

647641

+
intron-5UTRENST00000505655ENST00000429163PCGF3chr4

699759

+PDE6Bchr4

647641

+

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FusionProtFeatures for PCGF3_PDE6B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCGF3

Q3KNV8

PDE6B

P35913

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PCGF3_PDE6B


check button 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 PCGF3_PDE6B


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PCGF3RNF2, 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, TRIM25PDE6BPPP1CC


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PCGF3_PDE6B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PCGF3_PDE6B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDE6BC3151107RETINITIS PIGMENTOSA 40 (disorder)7UNIPROT
TgenePDE6BC0035304Retinal Degeneration4CTD_human
TgenePDE6BC0035334Retinitis Pigmentosa1CTD_human;HPO;ORPHANET
TgenePDE6BC0339535Night blindness, congenital stationary1CTD_human;HPO;ORPHANET
TgenePDE6BC1876182NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 21CTD_human;UNIPROT