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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:PFKFB3-ASRGL1 (FusionGDB2 ID:64427)

Fusion Gene Summary for PFKFB3-ASRGL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PFKFB3-ASRGL1
Fusion gene ID: 64427
HgeneTgene
Gene symbol

PFKFB3

ASRGL1

Gene ID

5209

80150

Gene name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3asparaginase and isoaspartyl peptidase 1
SynonymsIPFK2|PFK2|iPFK-2ALP|ALP1|CRASH
Cytomap

10p15.1

11q12.3

Type of geneprotein-codingprotein-coding
Description6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 36-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase6PF-2-K/Fru-2,6-P2ase 36PF-2-K/Fru-2,6-P2ase brain/placenta-type isozymePFK/FBPase 3fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphataseisoaspartyl peptidase/L-asparaginaseL-asparaginaseL-asparagine amidohydrolaseasparaginase like 1asparaginase-like 1 proteinasparaginase-like protein 1beta-aspartyl-peptidaseisoaspartyl dipeptidasetestis secretory sperm-binding protein Li 242mP
Modification date2020032920200313
UniProtAcc.

Q7L266

Ensembl transtripts involved in fusion geneENST00000317350, ENST00000360521, 
ENST00000379775, ENST00000379782, 
ENST00000379785, ENST00000379789, 
ENST00000536985, ENST00000540253, 
ENST00000415229, ENST00000301776, 
ENST00000528206, ENST00000535727, 
Fusion gene scores* DoF score13 X 9 X 7=8195 X 5 X 2=50
# samples 135
** MAII scorelog2(13/819*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: PFKFB3 [Title/Abstract] AND ASRGL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPFKFB3(6262523)-ASRGL1(62123796), # 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
TgeneASRGL1

GO:0033345

asparagine catabolic process via L-aspartate

19839645


check buttonFusion gene breakpoints across PFKFB3 (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 ASRGL1 (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
ChiTaRS5.0N/AAK025969PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+


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Fusion Gene ORF analysis for PFKFB3-ASRGL1

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
intron-3CDSENST00000317350ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000360521ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000379775ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000379782ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000379785ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000379789ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000536985ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-3CDSENST00000540253ENST00000415229PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000317350ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000317350ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000317350ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000360521ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000360521ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000360521ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379775ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379775ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379775ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379782ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379782ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379782ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379785ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379785ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379785ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379789ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379789ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000379789ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000536985ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000536985ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000536985ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000540253ENST00000301776PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000540253ENST00000528206PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+
intron-intronENST00000540253ENST00000535727PFKFB3chr10

6262523

+ASRGL1chr11

62123796

+

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 PFKFB3-ASRGL1


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)

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 PFKFB3-ASRGL1


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/:6262523/:62123796)
- 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
.ASRGL1

Q7L266

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: Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine. {ECO:0000269|PubMed:19839645, ECO:0000269|PubMed:27106100}.

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 PFKFB3-ASRGL1


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 PFKFB3-ASRGL1


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 PFKFB3-ASRGL1


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 PFKFB3-ASRGL1


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