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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:SYNJ1-PDE9A (FusionGDB2 ID:87848)

Fusion Gene Summary for SYNJ1-PDE9A

check button Fusion gene summary
Fusion gene informationFusion gene name: SYNJ1-PDE9A
Fusion gene ID: 87848
HgeneTgene
Gene symbol

SYNJ1

PDE9A

Gene ID

8867

5152

Gene namesynaptojanin 1phosphodiesterase 9A
SynonymsEIEE53|INPP5G|PARK20HSPDE9A2
Cytomap

21q22.11

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionsynaptojanin-1inositol 5'-phosphatase (synaptojanin 1)inositol polyphosphate-5-phosphatase Gphosphoinositide 5-phosphatasesynaptic inositol 1,4,5-trisphosphate 5-phosphatase 1synaptojanin-1, polyphosphoinositide phosphatasehigh affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9ACGMP-specific 3',5'-cyclic phosphodiesterase type 9phosphodiesterase PDE9A21
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000382491, ENST00000357345, 
ENST00000382499, ENST00000433931, 
ENST00000322229, ENST00000464778, 
ENST00000335512, ENST00000539837, 
ENST00000470987, ENST00000291539, 
ENST00000398236, ENST00000398229, 
ENST00000398234, ENST00000398232, 
ENST00000398227, ENST00000398225, 
ENST00000380328, ENST00000328862, 
ENST00000335440, ENST00000398224, 
ENST00000349112, 
Fusion gene scores* DoF score5 X 5 X 3=7513 X 13 X 6=1014
# samples 514
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1014*10)=-2.85655892005837
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SYNJ1 [Title/Abstract] AND PDE9A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSYNJ1(34099083)-PDE9A(44163886), # samples:3
Anticipated loss of major functional domain due to fusion event.SYNJ1-PDE9A seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SYNJ1-PDE9A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SYNJ1-PDE9A seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SYNJ1-PDE9A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneSYNJ1

GO:0046856

phosphatidylinositol dephosphorylation

18093523

TgenePDE9A

GO:0046068

cGMP metabolic process

9624146

TgenePDE9A

GO:0046069

cGMP catabolic process

25799991


check buttonFusion gene breakpoints across SYNJ1 (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 PDE9A (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
ChimerDB4LGGTCGA-HT-7603-01ASYNJ1chr21

34099083

-PDE9Achr21

44163886

+
ChimerDB4LGGTCGA-HT-7603SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
ChimerDB4LGGTCGA-HT-7603-01ASYNJ1chr21

34099083

-PDE9Achr21

44163886

+


Top

Fusion Gene ORF analysis for SYNJ1-PDE9A

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
Frame-shiftENST00000382491ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000382491ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382491ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000357345ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000357345ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000357345ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000382499ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000382499ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000382499ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
In-frameENST00000433931ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
In-frameENST00000433931ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000433931ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000322229ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
Frame-shiftENST00000322229ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
5CDS-3UTRENST00000322229ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3CDSENST00000464778ENST00000335512SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3CDSENST00000464778ENST00000539837SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000470987SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000291539SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398236SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398229SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398234SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398232SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398227SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398225SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000380328SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000328862SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000335440SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000398224SYNJ1chr21

34099083

-PDE9Achr21

44163886

+
intron-3UTRENST00000464778ENST00000349112SYNJ1chr21

34099083

-PDE9Achr21

44163886

+

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)
ENST00000433931SYNJ1chr2134099083-ENST00000335512PDE9Achr2144163886+167924981462484
ENST00000433931SYNJ1chr2134099083-ENST00000539837PDE9Achr2144163886+167624981462484

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
ENST00000433931ENST00000335512SYNJ1chr2134099083-PDE9Achr2144163886+0.002852950.997147
ENST00000433931ENST00000539837SYNJ1chr2134099083-PDE9Achr2144163886+0.0028675350.9971324

Top

Fusion Genomic Features for SYNJ1-PDE9A


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)
SYNJ1chr2134099082-PDE9Achr2144163885+0.0024912320.99750876
SYNJ1chr2134099082-PDE9Achr2144163885+0.0024912320.99750876
SYNJ1chr2134099082-PDE9Achr2144163885+0.0024912320.99750876
SYNJ1chr2134099082-PDE9Achr2144163885+0.0024912320.99750876

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 SYNJ1-PDE9A


check button Go to

FGviewer for the breakpoints of chr21:34099083-chr21:44163886

.
- 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
..
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: 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.

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
TgenePDE9Achr21:34099083chr21:44163886ENST00000291539620236_557189.33333333333334594.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000328862519236_557163.33333333333334568.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000335440317236_55787.33333333333333492.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000335512519236_557129.33333333333334534.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000349112216236_55761.333333333333336466.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000380328519236_557136.33333333333334541.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398224317236_55762.333333333333336467.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398225519236_557148.33333333333334553.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398227115236_55729.333333333333332434.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398229216236_55755.333333333333336460.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398232418236_557122.33333333333333527.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398234418236_55788.33333333333333493.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000398236418236_557103.33333333333333508.0DomainPDEase
TgenePDE9Achr21:34099083chr21:44163886ENST00000291539620312_316189.33333333333334594.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000291539620512_513189.33333333333334594.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000328862519312_316163.33333333333334568.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000328862519512_513163.33333333333334568.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000335440317312_31687.33333333333333492.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000335440317512_51387.33333333333333492.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000335512519312_316129.33333333333334534.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000335512519512_513129.33333333333334534.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000349112216312_31661.333333333333336466.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000349112216512_51361.333333333333336466.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000380328519312_316136.33333333333334541.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000380328519512_513136.33333333333334541.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398224317312_31662.333333333333336467.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398224317512_51362.333333333333336467.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398225519312_316148.33333333333334553.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398225519512_513148.33333333333334553.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398227115312_31629.333333333333332434.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398227115512_51329.333333333333332434.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398229216312_31655.333333333333336460.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398229216512_51355.333333333333336460.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398232418312_316122.33333333333333527.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398232418512_513122.33333333333333527.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398234418312_31688.33333333333333493.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398234418512_51388.33333333333333493.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398236418312_316103.33333333333333508.0Nucleotide binding3'%2C5'-cGMP
TgenePDE9Achr21:34099083chr21:44163886ENST00000398236418512_513103.33333333333333508.0Nucleotide binding3'%2C5'-cGMP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311033_103641.3333333333333361574.0Compositional biasNote=Poly-Ser
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311108_111341.3333333333333361574.0Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311126_112941.3333333333333361574.0Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311485_148841.3333333333333361574.0Compositional biasNote=Poly-Glu
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311538_154441.3333333333333361574.0Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-131900_157341.3333333333333361574.0Compositional biasNote=Pro-rich
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321033_103641.3333333333333362235.3333333333335Compositional biasNote=Poly-Ser
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321108_111341.3333333333333362235.3333333333335Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321126_112941.3333333333333362235.3333333333335Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321485_148841.3333333333333362235.3333333333335Compositional biasNote=Poly-Glu
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321538_154441.3333333333333362235.3333333333335Compositional biasNote=Poly-Pro
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-232900_157341.3333333333333362235.3333333333335Compositional biasNote=Pro-rich
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-131119_44241.3333333333333361574.0DomainSAC
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-131902_97141.3333333333333361574.0DomainRRM
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-232119_44241.3333333333333362235.3333333333335DomainSAC
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-232902_97141.3333333333333362235.3333333333335DomainRRM
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311396_141941.3333333333333361574.0RegionNote=3 X 3 AA repeats of N-P-F
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-131500_89941.3333333333333361574.0RegionCatalytic
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321396_141941.3333333333333362235.3333333333335RegionNote=3 X 3 AA repeats of N-P-F
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-232500_89941.3333333333333362235.3333333333335RegionCatalytic
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311396_139841.3333333333333361574.0RepeatNote=1
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311406_140841.3333333333333361574.0RepeatNote=2
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000322229-1311417_141941.3333333333333361574.0RepeatNote=3
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321396_139841.3333333333333362235.3333333333335RepeatNote=1
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321406_140841.3333333333333362235.3333333333335RepeatNote=2
HgeneSYNJ1chr21:34099083chr21:44163886ENST00000357345-2321417_141941.3333333333333362235.3333333333335RepeatNote=3


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Fusion Gene Sequence for SYNJ1-PDE9A


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.
>In-frame_ENST00000433931_ENST00000335512_TCGA-HT-7603-01A_SYNJ1_chr21_34099083_-_PDE9A_chr21_44163886_length(transcript)=1679nt_BP=249nt
GCGGCGCAATGCGGAAGAGATGGGCCTGCTGGAGCGGAAGTGACGCTCCCGGCGGCTGTGGCGGCGGCTGCGGGAGAAGGAGGAGGAGGA
GCCGGAGGAAGAGGGCTGCCTCCGAAGAAAGGAGAATGGCGTTCAGTAAAGGATTCCGGATCTATCACAAATTGGATCCCCCACCTTTCA
GCCTCATAGTGGAAACTAGGCATAAGGAAGAATGTCTCATGTTCGAGTCTGGGGCTGTCGCTGTGCTCTTGGAAGGACTAAAAGTGGTGG
AGATTGAGAAATGCAAGAGTGACATTAAGAAGATGAGGGAGGAGCTGGCGGCCAGAAGCAGCAGGACCAACTGCCCCTGTAAGTACAGTT
TTTTGGATAACCACAAGAAGTTGACTCCTCGACGCGATGTTCCCACTTACCCCAAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGC
GGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGG
ACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGTTCTGCGTCCACGACAACTACAGAAACAACCCCTTCCACAACTTCCGGCACT
GCTTCTGCGTGGCCCAGATGATGTACAGCATGGTCTGGCTCTGCAGTCTCCAGGAGAAGTTCTCACAAACGGATATCCTGATCCTAATGA
CAGCGGCCATCTGCCACGATCTGGACCATCCCGGCTACAACAACACGTACCAGATCAATGCCCGCACAGAGCTGGCGGTCCGCTACAATG
ACATCTCACCGCTGGAGAACCACCACTGCGCCGTGGCCTTCCAGATCCTCGCCGAGCCTGAGTGCAACATCTTCTCCAACATCCCACCTG
ATGGGTTCAAGCAGATCCGACAGGGAATGATCACATTAATCTTGGCCACTGACATGGCAAGACATGCAGAAATTATGGATTCTTTCAAAG
AGAAAATGGAGAATTTTGACTACAGCAACGAGGAGCACATGACCCTGCTGAAGATGATTTTGATAAAATGCTGTGATATCTCTAACGAGG
TCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGTGAGAAGTCAGAAGGCCTTC
CTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTCCTGATCCCAATGTTTGAAA
CAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAG
ATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAGAGAAGCAGAGATGTGAAAA
ACAGTGAAGGAGACTGTGCCTGAGGAAAGCGGGGGGCGTGGCTGCAGTTCTGGACGGGCTGGCCGAGCTGCGCGGGATCCTTGTGCAGGG
AAGAGCTGCCCTGGGCACCTGGCACCACAAGACCATGTTTTCTAAGAACCATTTTGTTCACTGATACAAAAAAAAAAAAAGGAATTCATG

>In-frame_ENST00000433931_ENST00000335512_TCGA-HT-7603-01A_SYNJ1_chr21_34099083_-_PDE9A_chr21_44163886_length(amino acids)=484AA_start in transcript=8_stop in transcript=1462
MRKRWACWSGSDAPGGCGGGCGRRRRRSRRKRAASEERRMAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLLEGLKVVEIE
KCKSDIKKMREELAARSSRTNCPCKYSFLDNHKKLTPRRDVPTYPKYLLSPETIEALRKPTFDVWLWEPNEMLSCLEHMYHDLGLVRDFS
INPVTLRRWLFCVHDNYRNNPFHNFRHCFCVAQMMYSMVWLCSLQEKFSQTDILILMTAAICHDLDHPGYNNTYQINARTELAVRYNDIS
PLENHHCAVAFQILAEPECNIFSNIPPDGFKQIRQGMITLILATDMARHAEIMDSFKEKMENFDYSNEEHMTLLKMILIKCCDISNEVRP
MEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFVLIPMFETVTKLFPMVEEIMLQPLWESRDRYEELKRIDDA

--------------------------------------------------------------
>In-frame_ENST00000433931_ENST00000539837_TCGA-HT-7603-01A_SYNJ1_chr21_34099083_-_PDE9A_chr21_44163886_length(transcript)=1676nt_BP=249nt
GCGGCGCAATGCGGAAGAGATGGGCCTGCTGGAGCGGAAGTGACGCTCCCGGCGGCTGTGGCGGCGGCTGCGGGAGAAGGAGGAGGAGGA
GCCGGAGGAAGAGGGCTGCCTCCGAAGAAAGGAGAATGGCGTTCAGTAAAGGATTCCGGATCTATCACAAATTGGATCCCCCACCTTTCA
GCCTCATAGTGGAAACTAGGCATAAGGAAGAATGTCTCATGTTCGAGTCTGGGGCTGTCGCTGTGCTCTTGGAAGGACTAAAAGTGGTGG
AGATTGAGAAATGCAAGAGTGACATTAAGAAGATGAGGGAGGAGCTGGCGGCCAGAAGCAGCAGGACCAACTGCCCCTGTAAGTACAGTT
TTTTGGATAACCACAAGAAGTTGACTCCTCGACGCGATGTTCCCACTTACCCCAAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGC
GGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGG
ACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGTTCTGCGTCCACGACAACTACAGAAACAACCCCTTCCACAACTTCCGGCACT
GCTTCTGCGTGGCCCAGATGATGTACAGCATGGTCTGGCTCTGCAGTCTCCAGGAGAAGTTCTCACAAACGGATATCCTGATCCTAATGA
CAGCGGCCATCTGCCACGATCTGGACCATCCCGGCTACAACAACACGTACCAGATCAATGCCCGCACAGAGCTGGCGGTCCGCTACAATG
ACATCTCACCGCTGGAGAACCACCACTGCGCCGTGGCCTTCCAGATCCTCGCCGAGCCTGAGTGCAACATCTTCTCCAACATCCCACCTG
ATGGGTTCAAGCAGATCCGACAGGGAATGATCACATTAATCTTGGCCACTGACATGGCAAGACATGCAGAAATTATGGATTCTTTCAAAG
AGAAAATGGAGAATTTTGACTACAGCAACGAGGAGCACATGACCCTGCTGAAGATGATTTTGATAAAATGCTGTGATATCTCTAACGAGG
TCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGTGAGAAGTCAGAAGGCCTTC
CTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTCCTGATCCCAATGTTTGAAA
CAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAG
ATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAGAGAAGCAGAGATGTGAAAA
ACAGTGAAGGAGACTGTGCCTGAGGAAAGCGGGGGGCGTGGCTGCAGTTCTGGACGGGCTGGCCGAGCTGCGCGGGATCCTTGTGCAGGG
AAGAGCTGCCCTGGGCACCTGGCACCACAAGACCATGTTTTCTAAGAACCATTTTGTTCACTGATACAAAAAAAAAAAAAGGAATTCATG

>In-frame_ENST00000433931_ENST00000539837_TCGA-HT-7603-01A_SYNJ1_chr21_34099083_-_PDE9A_chr21_44163886_length(amino acids)=484AA_start in transcript=8_stop in transcript=1462
MRKRWACWSGSDAPGGCGGGCGRRRRRSRRKRAASEERRMAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLLEGLKVVEIE
KCKSDIKKMREELAARSSRTNCPCKYSFLDNHKKLTPRRDVPTYPKYLLSPETIEALRKPTFDVWLWEPNEMLSCLEHMYHDLGLVRDFS
INPVTLRRWLFCVHDNYRNNPFHNFRHCFCVAQMMYSMVWLCSLQEKFSQTDILILMTAAICHDLDHPGYNNTYQINARTELAVRYNDIS
PLENHHCAVAFQILAEPECNIFSNIPPDGFKQIRQGMITLILATDMARHAEIMDSFKEKMENFDYSNEEHMTLLKMILIKCCDISNEVRP
MEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFVLIPMFETVTKLFPMVEEIMLQPLWESRDRYEELKRIDDA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for SYNJ1-PDE9A


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 SYNJ1-PDE9A


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 SYNJ1-PDE9A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSYNJ1C0752105Parkinsonism, Juvenile4GENOMICS_ENGLAND
HgeneSYNJ1C3809824PARKINSON DISEASE 20, EARLY-ONSET4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSYNJ1C4510873Atypical juvenile parkinsonism2ORPHANET
HgeneSYNJ1C4479313EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 531CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePDE9AC0005586Bipolar Disorder1PSYGENET