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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:STRA13-ASPSCR1 (FusionGDB2 ID:HG201254TG79058)

Fusion Gene Summary for STRA13-ASPSCR1

check button Fusion gene summary
Fusion gene informationFusion gene name: STRA13-ASPSCR1
Fusion gene ID: hg201254tg79058
HgeneTgene
Gene symbol

STRA13

ASPSCR1

Gene ID

201254

79058

Gene namecentromere protein XASPSCR1 tether for SLC2A4, UBX domain containing
SynonymsCENP-X|D9|FAAP10|MHF2|STRA13ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9
Cytomap('STRA13')('ASPSCR1')

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncentromere protein XFANCM associated histone fold protein 2FANCM-interacting histone fold protein 2Fanconi anemia-associated polypeptide of 10 kDaretinoic acid-inducible gene D9 protein homologstimulated by retinoic acid 13 homologstimulated by retitether 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 date2020031320200313
UniProtAcc.

Q9BZE9

Ensembl transtripts involved in fusion geneENST00000306704, ENST00000392359, 
ENST00000580435, ENST00000584347, 
ENST00000583767, 
Fusion gene scores* DoF score1 X 1 X 1=116 X 16 X 12=3072
# samples 119
** MAII scorelog2(1/1*10)=3.32192809488736log2(19/3072*10)=-4.01510689239021
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STRA13 [Title/Abstract] AND ASPSCR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSTRA13(79980701)-ASPSCR1(79974351), # samples:2
Anticipated loss of major functional domain due to fusion event.STRA13-ASPSCR1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
STRA13-ASPSCR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across STRA13 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
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.
all structure

check button Fusion gene information
* 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-LN-A8HZSTRA13chr17

79980701

-ASPSCR1chr17

79974351

+
ChimerDB4ESCATCGA-VR-A8EYSTRA13chr17

79980701

-ASPSCR1chr17

79974351

+


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Fusion Gene ORF analysis for STRA13-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
5CDS-3UTRENST00000306704ENST00000582404STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-3UTRENST00000392359ENST00000582404STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-3UTRENST00000580435ENST00000582404STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-3UTRENST00000584347ENST00000582404STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-intronENST00000306704ENST00000581647STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-intronENST00000392359ENST00000581647STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-intronENST00000580435ENST00000581647STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
5CDS-intronENST00000584347ENST00000581647STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000306704ENST00000306729STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000306704ENST00000306739STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000306704ENST00000580534STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000392359ENST00000306729STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000392359ENST00000306739STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000392359ENST00000580534STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000580435ENST00000306729STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000580435ENST00000306739STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000580435ENST00000580534STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000584347ENST00000306729STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000584347ENST00000306739STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
In-frameENST00000584347ENST00000580534STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
intron-3CDSENST00000583767ENST00000306729STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
intron-3CDSENST00000583767ENST00000306739STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
intron-3CDSENST00000583767ENST00000580534STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
intron-3UTRENST00000583767ENST00000582404STRA13chr17

79980701

-ASPSCR1chr17

79974351

+
intron-intronENST00000583767ENST00000581647STRA13chr17

79980701

-ASPSCR1chr17

79974351

+

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 STRA13-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)
STRA13chr1779980701-ASPSCR1chr1779974351+0.0575087030.9424913
STRA13chr1779980701-ASPSCR1chr1779974351+0.0575087030.9424913
STRA13chr1779980701-ASPSCR1chr1779974351+0.0575087030.9424913
STRA13chr1779980701-ASPSCR1chr1779974351+0.0575087030.9424913

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.
genomic feature

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 STRA13-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/chr17:79980701/chr17:79974351)
- 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
TgeneASPSCR1chr17:79980701chr17:79974351ENST000003067291217386_462545648.0DomainUBX
TgeneASPSCR1chr17:79980701chr17:79974351ENST000003067391116386_462451554.0DomainUBX
TgeneASPSCR1chr17:79980701chr17:79974351ENST000005805341015386_462399502.0DomainUBX


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Fusion Gene Sequence for STRA13-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 STRA13-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
TgeneASPSCR1chr17:79980701chr17:79974351ENST000003067291217317_380545.0648.0GLUT4
TgeneASPSCR1chr17:79980701chr17:79974351ENST000003067391116317_380451.0554.0GLUT4
TgeneASPSCR1chr17:79980701chr17:79974351ENST000005805341015317_380399.0502.0GLUT4


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 STRA13-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 STRA13-ASPSCR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4518356MiT family translocation renal cell carcinoma3ORPHANET
TgeneC0206657Alveolar Soft Part Sarcoma1CTD_human;ORPHANET