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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:ZDHHC5-ASPSCR1 (FusionGDB2 ID:100830)

Fusion Gene Summary for ZDHHC5-ASPSCR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZDHHC5-ASPSCR1
Fusion gene ID: 100830
HgeneTgene
Gene symbol

ZDHHC5

ASPSCR1

Gene ID

25921

79058

Gene namezinc finger DHHC-type palmitoyltransferase 5ASPSCR1 tether for SLC2A4, UBX domain containing
SynonymsDHHC5|ZNF375ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9
Cytomap

11q12.1

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionpalmitoyltransferase ZDHHC5DHHC-5membrane-associated DHHC5 zinc finger proteinprobable palmitoyltransferase ZDHHC5zinc finger DHHC domain-containing protein 5zinc finger DHHC-type containing 5zinc finger protein 375zinc finger, DHHC domain containitether containing UBX domain for GLUT4ASPSCR1, UBX domain containing tether for SLC2A4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome regio
Modification date2020032120200313
UniProtAcc.

Q9BZE9

Ensembl transtripts involved in fusion geneENST00000287169, ENST00000527985, 
ENST00000527090, 
ENST00000306729, 
ENST00000306739, ENST00000580534, 
ENST00000581647, ENST00000582404, 
Fusion gene scores* DoF score8 X 7 X 6=33616 X 16 X 12=3072
# samples 1019
** MAII scorelog2(10/336*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/3072*10)=-4.01510689239021
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZDHHC5 [Title/Abstract] AND ASPSCR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZDHHC5(57435659)-ASPSCR1(79966912), # samples:2
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
HgeneZDHHC5

GO:0018345

protein palmitoylation

22325201|23034182


check buttonFusion gene breakpoints across ZDHHC5 (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 ASPSCR1 (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
ChimerDB4ESCATCGA-L5-A4OIZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+


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Fusion Gene ORF analysis for ZDHHC5-ASPSCR1

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
5UTR-3CDSENST00000287169ENST00000306729ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-3CDSENST00000287169ENST00000306739ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-3CDSENST00000287169ENST00000580534ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-3CDSENST00000527985ENST00000306729ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-3CDSENST00000527985ENST00000306739ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-3CDSENST00000527985ENST00000580534ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-intronENST00000287169ENST00000581647ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-intronENST00000287169ENST00000582404ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-intronENST00000527985ENST00000581647ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
5UTR-intronENST00000527985ENST00000582404ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
intron-3CDSENST00000527090ENST00000306729ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
intron-3CDSENST00000527090ENST00000306739ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
intron-3CDSENST00000527090ENST00000580534ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
intron-intronENST00000527090ENST00000581647ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+
intron-intronENST00000527090ENST00000582404ZDHHC5chr11

57435659

+ASPSCR1chr17

79966912

+

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 ZDHHC5-ASPSCR1


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)
ZDHHC5chr1157435659+ASPSCR1chr1779966912+1.01E-070.9999999
ZDHHC5chr1157435659+ASPSCR1chr1779966912+1.01E-070.9999999

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 ZDHHC5-ASPSCR1


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/:57435659/:79966912)
- 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
.ASPSCR1

Q9BZE9

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: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269|PubMed:23349634}.

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 ZDHHC5-ASPSCR1


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 ZDHHC5-ASPSCR1


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 ZDHHC5-ASPSCR1


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 ZDHHC5-ASPSCR1


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