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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-ALDOA (FusionGDB2 ID:HG79058TG226)

Fusion Gene Summary for ASPSCR1-ALDOA

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPSCR1-ALDOA
Fusion gene ID: hg79058tg226
HgeneTgene
Gene symbol

ASPSCR1

ALDOA

Gene ID

79058

226

Gene nameASPSCR1 tether for SLC2A4, UBX domain containingaldolase, fructose-bisphosphate A
SynonymsASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9ALDA|GSD12|HEL-S-87p
Cytomap('ASPSCR1')('ALDOA')

17q25.3

16p11.2

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 regiofructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolase
Modification date2020031320200313
UniProtAcc

Q9BZE9

.
Ensembl transtripts involved in fusion geneENST00000306729, ENST00000306739, 
ENST00000580534, ENST00000581647, 
ENST00000582404, 
Fusion gene scores* DoF score9 X 6 X 8=43216 X 16 X 6=1536
# samples 1218
** MAII scorelog2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1536*10)=-3.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointASPSCR1(79954722)-ALDOA(30078554), # 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
TgeneALDOA

GO:0008360

regulation of cell shape

9244396

TgeneALDOA

GO:0030388

fructose 1,6-bisphosphate metabolic process

9244396|14766013



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
ChimerDB4Non-Cancer61NASPSCR1chr17

79954722

+ALDOAchr16

30078554

+


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Fusion Gene ORF analysis for ASPSCR1-ALDOA

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-5UTRENST00000306729ENST00000338110ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000395240ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000395248ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000412304ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000563060ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000564546ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000564595ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000566897ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000569545ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306729ENST00000569798ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000338110ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000395240ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000395248ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000412304ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000563060ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000564546ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000564595ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000566897ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000569545ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000306739ENST00000569798ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000338110ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000395240ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000395248ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000412304ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000563060ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000564546ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000564595ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000566897ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000569545ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-5UTRENST00000580534ENST00000569798ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-intronENST00000306729ENST00000575627ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-intronENST00000306739ENST00000575627ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
5CDS-intronENST00000580534ENST00000575627ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000338110ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000395240ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000395248ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000412304ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000563060ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000564546ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000564595ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000566897ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000569545ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000581647ENST00000569798ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000338110ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000395240ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000395248ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000412304ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000563060ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000564546ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000564595ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000566897ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000569545ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-5UTRENST00000582404ENST00000569798ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-intronENST00000581647ENST00000575627ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+
intron-intronENST00000582404ENST00000575627ASPSCR1chr17

79954722

+ALDOAchr16

30078554

+

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-ALDOA


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)
ASPSCR1chr1779954722+ALDOAchr1630078554+4.75E-050.99995255
ASPSCR1chr1779954722+ALDOAchr1630078554+4.75E-050.99995255


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 ASPSCR1-ALDOA


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/:79954722/:30078554)
- 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: 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: 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}.

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-ALDOA


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-ALDOA


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-ALDOA


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-ALDOA


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
TgeneC0272066Glycogen Storage Disease XII7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0017919Glycogen Storage Disease3GENOMICS_ENGLAND
TgeneC0520572Enzymopathy2GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human