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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:ASPSCR1-COL5A3 (FusionGDB2 ID:HG79058TG50509)

Fusion Gene Summary for ASPSCR1-COL5A3

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPSCR1-COL5A3
Fusion gene ID: hg79058tg50509
HgeneTgene
Gene symbol

ASPSCR1

COL5A3

Gene ID

79058

50509

Gene nameASPSCR1 tether for SLC2A4, UBX domain containingcollagen type V alpha 3 chain
SynonymsASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9-
Cytomap('ASPSCR1')('COL5A3')

17q25.3

19p13.2

Type of geneprotein-codingprotein-coding
Descriptiontether 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 regiocollagen alpha-3(V) chaincollagen, type V, alpha 3pro-(alpha)3(V) collagen
Modification date2020031320200313
UniProtAcc

Q9BZE9

P25940

Ensembl transtripts involved in fusion geneENST00000306729, ENST00000306739, 
ENST00000581647, ENST00000580534, 
ENST00000582404, 
Fusion gene scores* DoF score9 X 6 X 8=4326 X 5 X 6=180
# samples 127
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASPSCR1 [Title/Abstract] AND COL5A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASPSCR1(79939176)-COL5A3(10114821), # samples:2
ASPSCR1(79937115)-COL5A3(10114821), # samples:2
Anticipated loss of major functional domain due to fusion event.ASPSCR1-COL5A3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ASPSCR1-COL5A3 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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


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
ChimerDB4BRCATCGA-D8-A140-01AASPSCR1chr17

79937115

-COL5A3chr19

10114821

-
ChimerDB4BRCATCGA-D8-A140-01AASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
ChimerDB4BRCATCGA-D8-A140-01AASPSCR1chr17

79939176

+COL5A3chr19

10114821

-


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Fusion Gene ORF analysis for ASPSCR1-COL5A3

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-shiftENST00000306729ENST00000264828ASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
Frame-shiftENST00000306739ENST00000264828ASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
Frame-shiftENST00000581647ENST00000264828ASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
intron-3CDSENST00000306729ENST00000264828ASPSCR1chr17

79939176

+COL5A3chr19

10114821

-
intron-3CDSENST00000306739ENST00000264828ASPSCR1chr17

79939176

+COL5A3chr19

10114821

-
intron-3CDSENST00000580534ENST00000264828ASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
intron-3CDSENST00000580534ENST00000264828ASPSCR1chr17

79939176

+COL5A3chr19

10114821

-
intron-3CDSENST00000581647ENST00000264828ASPSCR1chr17

79939176

+COL5A3chr19

10114821

-
intron-3CDSENST00000582404ENST00000264828ASPSCR1chr17

79937115

+COL5A3chr19

10114821

-
intron-3CDSENST00000582404ENST00000264828ASPSCR1chr17

79939176

+COL5A3chr19

10114821

-

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 ASPSCR1-COL5A3


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)


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Fusion Protein Features for ASPSCR1-COL5A3


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/:79939176/:10114821)
- 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

COL5A3

P25940

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}.FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

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 ASPSCR1-COL5A3


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 ASPSCR1-COL5A3


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 ASPSCR1-COL5A3


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 ASPSCR1-COL5A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASPSCR1C4518356MiT family translocation renal cell carcinoma3ORPHANET
HgeneASPSCR1C0206657Alveolar Soft Part Sarcoma1CTD_human;ORPHANET
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human