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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: 20520

FusionGeneSummary for MACROD1_PDE2A

check button Fusion gene summary
Fusion gene informationFusion gene name: MACROD1_PDE2A
Fusion gene ID: 20520
HgeneTgene
Gene symbol

MACROD1

PDE2A

Gene ID

28992

5138

Gene nameMACRO domain containing 1phosphodiesterase 2A
SynonymsLRP16CGS-PDE|PDE2A1|PED2A4|cGSPDE
Cytomap

11q13.1

11q13.4

Type of geneprotein-codingprotein-coding
DescriptionO-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolasecGMP-dependent 3',5'-cyclic phosphodiesterasecGMP-stimulated phosphodiesterase 1cGMP-stimulated phosphodiesterase 2cGMP-stimulated phosphodiesterase 4cyclic GMP-stimulated phosphodiesterasephosphodiesterase 2A, cGMP-stimulated
Modification date2018051920180519
UniProtAcc

Q9BQ69

O00408

Ensembl transtripts involved in fusion geneENST00000255681, ENST00000538595, 
ENST00000334456, ENST00000376450, 
ENST00000444035, ENST00000544570, 
ENST00000418754, ENST00000540345, 
ENST00000540380, 
Fusion gene scores* DoF score11 X 2 X 11=2429 X 5 X 6=270
# samples 139
** MAII scorelog2(13/242*10)=-0.89649542424614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MACROD1 [Title/Abstract] AND PDE2A [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
HgeneMACROD1

GO:0042278

purine nucleoside metabolic process

21257746

HgeneMACROD1

GO:0051725

protein de-ADP-ribosylation

23474712

TgenePDE2A

GO:0000122

negative regulation of transcription by RNA polymerase II

17329248

TgenePDE2A

GO:0006198

cAMP catabolic process

15938621|17704206

TgenePDE2A

GO:0033159

negative regulation of protein import into nucleus, translocation

17329248

TgenePDE2A

GO:0036006

cellular response to macrophage colony-stimulating factor stimulus

14687666

TgenePDE2A

GO:0043951

negative regulation of cAMP-mediated signaling

17329248

TgenePDE2A

GO:0046069

cGMP catabolic process

15938621|19828435

TgenePDE2A

GO:0071320

cellular response to cAMP

17329248

TgenePDE2A

GO:0071321

cellular response to cGMP

17704206|19828435

TgenePDE2A

GO:1904613

cellular response to 2,3,7,8-tetrachlorodibenzodioxine

17329248


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
TCGALDLIHCTCGA-DD-AADY-01AMACROD1chr11

63918711

-PDE2Achr11

72342183

-
* 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
5CDS-intronENST00000255681ENST00000334456MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000376450MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000444035MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000544570MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000418754MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000540345MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5CDS-intronENST00000255681ENST00000540380MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000334456MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000376450MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000444035MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000544570MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000418754MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000540345MACROD1chr11

63918711

-PDE2Achr11

72342183

-
5UTR-intronENST00000538595ENST00000540380MACROD1chr11

63918711

-PDE2Achr11

72342183

-

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FusionProtFeatures for MACROD1_PDE2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MACROD1

Q9BQ69

PDE2A

O00408

Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins. Plays a role inestrogen signaling. Binds to androgen receptor (AR) and amplifiesthe transactivation function of AR in response to androgen. Mayplay an important role in carcinogenesis and/or progression ofhormone-dependent cancers by feed-forward mechanism that activatesESR1 transactivation. Could be an ESR1 coactivator, providing apositive feedback regulatory loop for ESR1 signal transduction.Could be involved in invasive growth by down-regulating CDH1 inendometrial cancer cells. Enhances ESR1-mediated transcriptionactivity. {ECO:0000269|PubMed:17893710,ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849,ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746,ECO:0000269|PubMed:23474712}.

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 MACROD1_PDE2A


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 MACROD1_PDE2A


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
MACROD1BAG3, PARP1, IKBKG, XRCC6, XRCC5, IKBKB, ERC1, EIF2AK2, HNRNPU, CSTF3, YBX1, DHX9, DDX21, PPP2R1A, PTP4A1, H2AFX, PARP2, SUPT16H, HIST2H3PS2, XPC, SSRP1, HBA2, EXOC3, CETN2, LIG3, HBE1, RPA1, PTPN6, PTPN7, DLDPDE2AMOV10, NXF1, NUFIP1


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 MACROD1_PDE2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePDE2AO00408DB08811TofisopamcGMP-dependent 3',5'-cyclic phosphodiesterasesmall moleculeapproved

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RelatedDiseases for MACROD1_PDE2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDE2AC1458155Mammary Neoplasms1CTD_human