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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:APTX-PRSS3 (FusionGDB2 ID:5724)

Fusion Gene Summary for APTX-PRSS3

check button Fusion gene summary
Fusion gene informationFusion gene name: APTX-PRSS3
Fusion gene ID: 5724
HgeneTgene
Gene symbol

APTX

PRSS3

Gene ID

54840

5646

Gene nameaprataxinserine protease 3
SynonymsAOA|AOA1|AXA1|EAOH|EOAHA|FHA-HITMTG|PRSS4|T9|TRY3|TRY4
Cytomap

9p21.1

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionaprataxinforkhead-associated domain histidine triad-like proteintrypsin-3brain trypsinogenmesotrypsinmesotrypsinogenpancreatic trypsinogen IIIprotease, serine 3protease, serine, 4 (trypsin 4, brain)trypsin IIItrypsin IVtrypsinogen 4trypsinogen 5trypsinogen IV
Modification date2020032020200313
UniProtAcc

Q7Z2E3

.
Ensembl transtripts involved in fusion geneENST00000309615, ENST00000379813, 
ENST00000379817, ENST00000379819, 
ENST00000379825, ENST00000397172, 
ENST00000436040, ENST00000463596, 
ENST00000468275, ENST00000473270, 
ENST00000476858, 		ENST00000342836, 
ENST00000361005, ENST00000379405, 
ENST00000429677, ENST00000495682, 
Fusion gene scores* DoF score10 X 9 X 6=54012 X 6 X 9=648
# samples 1216
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/648*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APTX [Title/Abstract] AND PRSS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPTX(33024998)-PRSS3(33796641), # 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
HgeneAPTX

GO:0000012

single strand break repair

17519253

HgeneAPTX

GO:0042542

response to hydrogen peroxide

15044383

TgenePRSS3

GO:0006508

proteolysis

6698368|11827488

TgenePRSS3

GO:0031638

zymogen activation

6698368


check buttonFusion gene breakpoints across APTX (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 PRSS3 (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
ChimerDB4LUADTCGA-38-4629-01AAPTXchr9

33024998

-PRSS3chr9

33796641

+


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Fusion Gene ORF analysis for APTX-PRSS3

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-3CDSENST00000309615ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000309615ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000309615ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000309615ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379813ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379813ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379813ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379813ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379817ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379817ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379817ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379817ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379819ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379819ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379819ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379819ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379825ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379825ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379825ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000379825ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000397172ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000397172ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000397172ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000397172ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000436040ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000436040ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000436040ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000436040ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000463596ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000463596ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000463596ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000463596ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000468275ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000468275ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000468275ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000468275ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000473270ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000473270ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000473270ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000473270ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000476858ENST00000342836APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000476858ENST00000361005APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000476858ENST00000379405APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-3CDSENST00000476858ENST00000429677APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000309615ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000379813ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000379817ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000379819ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000379825ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000397172ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000436040ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000463596ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000468275ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000473270ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+
intron-intronENST00000476858ENST00000495682APTXchr9

33024998

-PRSS3chr9

33796641

+

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 APTX-PRSS3


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 APTX-PRSS3


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/:33024998/:33796641)
- 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
APTX

Q7Z2E3

.
FUNCTION: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity). {ECO:0000250|UniProtKB:O74859, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:16547001, ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982, ECO:0000269|PubMed:24362567}.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 APTX-PRSS3


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 APTX-PRSS3


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 APTX-PRSS3


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 APTX-PRSS3


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