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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: 26422

FusionGeneSummary for PDE5A_EHBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PDE5A_EHBP1
Fusion gene ID: 26422
HgeneTgene
Gene symbol

PDE5A

EHBP1

Gene ID

8654

23301

Gene namephosphodiesterase 5AEH domain binding protein 1
SynonymsCGB-PDE|CN5A|PDE5HPC12|NACSIN
Cytomap

4q26

2p15

Type of geneprotein-codingprotein-coding
DescriptioncGMP-specific 3',5'-cyclic phosphodiesterasecGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterasecGMP-specific phosphodiesterase PDE5A2cGMP-specific phosphodiesterase type 5Aphosphodiesterase 5A, cGMP-specificphosphodiesterase isozyme EH domain-binding protein 1NPF calponin-like proteintestis tissue sperm-binding protein Li 50e
Modification date2018051920180519
UniProtAcc

O76074

Q8NDI1

Ensembl transtripts involved in fusion geneENST00000354960, ENST00000394439, 
ENST00000264805, ENST00000512739, 
ENST00000405015, ENST00000431489, 
ENST00000354487, ENST00000263991, 
ENST00000405289, ENST00000496857, 
Fusion gene scores* DoF score3 X 3 X 2=187 X 7 X 5=245
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDE5A [Title/Abstract] AND EHBP1 [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
HgenePDE5A

GO:0046069

cGMP catabolic process

14687666


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
ChiTaRS3.1AW102720PDE5Achr4

120420968

-EHBP1chr2

63251232

-
* 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
intron-intronENST00000354960ENST00000405015PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000354960ENST00000431489PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000354960ENST00000354487PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000354960ENST00000263991PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000354960ENST00000405289PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000354960ENST00000496857PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000405015PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000431489PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000354487PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000263991PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000405289PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000394439ENST00000496857PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000405015PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000431489PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000354487PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000263991PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000405289PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000264805ENST00000496857PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000405015PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000431489PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000354487PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000263991PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000405289PDE5Achr4

120420968

-EHBP1chr2

63251232

-
intron-intronENST00000512739ENST00000496857PDE5Achr4

120420968

-EHBP1chr2

63251232

-

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FusionProtFeatures for PDE5A_EHBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDE5A

O76074

EHBP1

Q8NDI1

Plays a role in signal transduction by regulating theintracellular concentration of cyclic nucleotides. Thisphosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:9714779, PubMed:15489334). Specifically regulatesnitric-oxide-generated cGMP (PubMed:15489334).{ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9714779}.

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 PDE5A_EHBP1


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 PDE5A_EHBP1


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 PDE5A_EHBP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDE5AO76074DB00277TheophyllinecGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved
HgenePDE5AO76074DB00862VardenafilcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved
HgenePDE5AO76074DB00975DipyridamolecGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved
HgenePDE5AO76074DB06237AvanafilcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved
HgenePDE5AO76074DB00203SildenafilcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved|investigational
HgenePDE5AO76074DB00806PentoxifyllinecGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved|investigational
HgenePDE5AO76074DB00820TadalafilcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved|investigational
HgenePDE5AO76074DB06267UdenafilcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved|investigational
HgenePDE5AO76074DB04272Citric AcidcGMP-specific 3',5'-cyclic phosphodiesterasesmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for PDE5A_EHBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDE5AC0027627Neoplasm Metastasis1CTD_human
TgeneEHBP1C0033578Prostatic Neoplasms1CTD_human