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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:PDE4D-KIAA1217 (FusionGDB2 ID:63325)

Fusion Gene Summary for PDE4D-KIAA1217

check button Fusion gene summary
Fusion gene informationFusion gene name: PDE4D-KIAA1217
Fusion gene ID: 63325
HgeneTgene
Gene symbol

PDE4D

KIAA1217

Gene ID

5144

56243

Gene namephosphodiesterase 4DKIAA1217
SynonymsACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1ETL4|SKT
Cytomap

5q11.2-q12.1

10p12.2-p12.1

Type of geneprotein-codingprotein-coding
DescriptioncAMP-specific 3',5'-cyclic phosphodiesterase 4DcAMP-specific phosphodiesterase PDE4D6phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)testicular tissue protein Li 136sickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4
Modification date2020031320200313
UniProtAcc.

Q5T5P2

Ensembl transtripts involved in fusion geneENST00000340635, ENST00000360047, 
ENST00000507116, ENST00000502484, 
ENST00000546160, ENST00000502575, 
ENST00000358923, ENST00000503258, 
ENST00000405755, ENST00000317118, 
ENST00000503947, 
ENST00000376462, 
ENST00000481700, ENST00000458595, 
ENST00000376454, ENST00000376452, 
ENST00000430453, ENST00000307544, 
ENST00000396446, ENST00000396445, 
ENST00000376451, 
Fusion gene scores* DoF score40 X 32 X 12=1536015 X 16 X 7=1680
# samples 5617
** MAII scorelog2(56/15360*10)=-4.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDE4D [Title/Abstract] AND KIAA1217 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPDE4D(58445976)-KIAA1217(24835095), # samples:1
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

check buttonFusion gene breakpoints across PDE4D (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 KIAA1217 (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
ChiTaRS5.0N/ABF917173PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+


Top

Fusion Gene ORF analysis for PDE4D-KIAA1217

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-3CDSENST00000340635ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000340635ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000340635ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000340635ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000360047ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000360047ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000360047ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000360047ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000507116ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000507116ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000507116ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000507116ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000502484ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502484ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000502484ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000502484ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000546160ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000546160ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000546160ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000546160ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000502575ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000502575ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000502575ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000502575ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000358923ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000358923ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000358923ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000358923ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000503258ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503258ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000503258ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000503258ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000405755ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000405755ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000405755ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000405755ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000317118ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000317118ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000317118ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000317118ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3CDSENST00000503947ENST00000376462PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000481700PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000458595PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000376454PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000376452PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000430453PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000307544PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-intronENST00000503947ENST00000396446PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000503947ENST00000396445PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+
intron-3UTRENST00000503947ENST00000376451PDE4Dchr5

58445976

-KIAA1217chr10

24835095

+

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 PDE4D-KIAA1217


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)

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.

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Fusion Protein Features for PDE4D-KIAA1217


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KIAA1217

Q5T5P2

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Required for normal development of intervertebral disks. {ECO:0000250|UniProtKB:A2AQ25}.

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 PDE4D-KIAA1217


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 PDE4D-KIAA1217


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


Top

Related Drugs for PDE4D-KIAA1217


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 PDE4D-KIAA1217


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDE4DC3553250ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePDE4DC0011581Depressive disorder3PSYGENET
HgenePDE4DC0004096Asthma2CTD_human
HgenePDE4DC0011570Mental Depression2PSYGENET
HgenePDE4DC0033578Prostatic Neoplasms2CTD_human
HgenePDE4DC0220659Acrodysostosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePDE4DC0376358Malignant neoplasm of prostate2CTD_human
HgenePDE4DC0036341Schizophrenia1PSYGENET
HgenePDE4DC0236733Amphetamine-Related Disorders1CTD_human
HgenePDE4DC0236804Amphetamine Addiction1CTD_human
HgenePDE4DC0236807Amphetamine Abuse1CTD_human
HgenePDE4DC3276228ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE1CTD_human;GENOMICS_ENGLAND