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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: 26424

FusionGeneSummary for PDE6B_INO80

check button Fusion gene summary
Fusion gene informationFusion gene name: PDE6B_INO80
Fusion gene ID: 26424
HgeneTgene
Gene symbol

PDE6B

INO80

Gene ID

5158

54617

Gene namephosphodiesterase 6BINO80 complex subunit
SynonymsCSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1INO80A|INOC1|hINO80
Cytomap

4p16.3

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionrod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaGMP-PDE betaphosphodiesterase 6B, cGMP-specific, rod, betarod cGMP-phosphodiesterase beta-subunitDNA helicase INO80INO80 complex subunit AINO80 homologhomolog of yeast INO80putative DNA helicase INO80 complex homolog 1
Modification date2018052220180523
UniProtAcc

P35913

Q9ULG1

Ensembl transtripts involved in fusion geneENST00000255622, ENST00000496514, 
ENST00000429163, 
ENST00000361937, 
ENST00000401393, ENST00000561244, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 3=108
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

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
ChiTaRS3.1BU741962PDE6Bchr4

664297

-INO80chr15

41291127

+
* 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
3UTR-intronENST00000255622ENST00000361937PDE6Bchr4

664297

-INO80chr15

41291127

+
3UTR-intronENST00000255622ENST00000401393PDE6Bchr4

664297

-INO80chr15

41291127

+
3UTR-intronENST00000255622ENST00000561244PDE6Bchr4

664297

-INO80chr15

41291127

+
3UTR-intronENST00000496514ENST00000361937PDE6Bchr4

664297

-INO80chr15

41291127

+
3UTR-intronENST00000496514ENST00000401393PDE6Bchr4

664297

-INO80chr15

41291127

+
3UTR-intronENST00000496514ENST00000561244PDE6Bchr4

664297

-INO80chr15

41291127

+
intron-intronENST00000429163ENST00000361937PDE6Bchr4

664297

-INO80chr15

41291127

+
intron-intronENST00000429163ENST00000401393PDE6Bchr4

664297

-INO80chr15

41291127

+
intron-intronENST00000429163ENST00000561244PDE6Bchr4

664297

-INO80chr15

41291127

+

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FusionProtFeatures for PDE6B_INO80


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDE6B

P35913

INO80

Q9ULG1

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}.

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 PDE6B_INO80


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 PDE6B_INO80


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


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 PDE6B_INO80


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 PDE6B_INO80


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDE6BC3151107RETINITIS PIGMENTOSA 40 (disorder)7UNIPROT
HgenePDE6BC0035304Retinal Degeneration4CTD_human
HgenePDE6BC0035334Retinitis Pigmentosa1CTD_human;HPO;ORPHANET
HgenePDE6BC0339535Night blindness, congenital stationary1CTD_human;HPO;ORPHANET
HgenePDE6BC1876182NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 21CTD_human;UNIPROT