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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PDE9A-SLC37A1 (FusionGDB2 ID:63823)

Fusion Gene Summary for PDE9A-SLC37A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PDE9A-SLC37A1
Fusion gene ID: 63823
HgeneTgene
Gene symbol

PDE9A

SLC37A1

Gene ID

5152

54020

Gene namephosphodiesterase 9Asolute carrier family 37 member 1
SynonymsHSPDE9A2G3PP
Cytomap

21q22.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionhigh affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9ACGMP-specific 3',5'-cyclic phosphodiesterase type 9phosphodiesterase PDE9A21glucose-6-phosphate exchanger SLC37A1G-3-P permeaseG-3-P transporterglycerol-3-phosphate permeaseglycerol-3-phosphate transportersolute carrier family 37 (glucose-6-phosphate transporter), member 1solute carrier family 37 (glycerol-3-phosphate trans
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000470987, ENST00000291539, 
ENST00000328862, ENST00000335440, 
ENST00000335512, ENST00000349112, 
ENST00000380328, ENST00000398224, 
ENST00000398225, ENST00000398227, 
ENST00000398229, ENST00000398232, 
ENST00000398234, ENST00000398236, 
ENST00000539837, 		ENST00000398341, 
ENST00000352133, ENST00000454800, 
Fusion gene scores* DoF score11 X 7 X 6=4623 X 3 X 3=27
# samples 113
** MAII scorelog2(11/462*10)=-2.0703893278914
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: PDE9A [Title/Abstract] AND SLC37A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPDE9A(44174174)-SLC37A1(43922406), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePDE9A

GO:0046068

cGMP metabolic process

9624146

HgenePDE9A

GO:0046069

cGMP catabolic process

25799991

TgeneSLC37A1

GO:0015760

glucose-6-phosphate transport

21949678

TgeneSLC37A1

GO:0035435

phosphate ion transmembrane transport

21949678


check buttonFusion gene breakpoints across PDE9A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SLC37A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-KK-A8ID-01APDE9Achr21

44174174

-SLC37A1chr21

43922406

+
ChimerDB4PRADTCGA-KK-A8ID-01APDE9Achr21

44174174

+SLC37A1chr21

43922406

+
ChimerDB4PRADTCGA-KK-A8IDPDE9Achr21

44174174

+SLC37A1chr21

43922406

+


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Fusion Gene ORF analysis for PDE9A-SLC37A1

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-5UTRENST00000470987ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
3UTR-intronENST00000470987ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
3UTR-intronENST00000470987ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000291539ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000328862ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000335440ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000335512ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000349112ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000380328ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398224ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398225ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398227ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398229ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398232ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398234ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000398236ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-5UTRENST00000539837ENST00000398341PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000291539ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000291539ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000328862ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000328862ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000335440ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000335440ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000335512ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000335512ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000349112ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000349112ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000380328ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000380328ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398224ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398224ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398225ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398225ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398227ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398227ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398229ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398229ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398232ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398232ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398234ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398234ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398236ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000398236ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000539837ENST00000352133PDE9Achr21

44174174

+SLC37A1chr21

43922406

+
5CDS-intronENST00000539837ENST00000454800PDE9Achr21

44174174

+SLC37A1chr21

43922406

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PDE9A-SLC37A1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PDE9Achr2144174174+SLC37A1chr2143922405+2.87E-101
PDE9Achr2144174174+SLC37A1chr2143922405+2.87E-101
PDE9Achr2144174174+SLC37A1chr2143922405+2.87E-101
PDE9Achr2144174174+SLC37A1chr2143922405+2.87E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PDE9A-SLC37A1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:44174174/:43922406)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for PDE9A-SLC37A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PDE9A-SLC37A1


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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Related Drugs for PDE9A-SLC37A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PDE9A-SLC37A1


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