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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:GPX3-S100A8 (FusionGDB2 ID:34427)

Fusion Gene Summary for GPX3-S100A8

check button Fusion gene summary
Fusion gene informationFusion gene name: GPX3-S100A8
Fusion gene ID: 34427
HgeneTgene
Gene symbol

GPX3

S100A8

Gene ID

2878

6279

Gene nameglutathione peroxidase 3S100 calcium binding protein A8
SynonymsGPx-P|GSHPx-3|GSHPx-P60B8AG|CAGA|CFAG|CGLA|CP-10|L1Ag|MA387|MIF|MRP8|NIF|P8
Cytomap

5q33.1

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionglutathione peroxidase 3GPx-3extracellular glutathione peroxidaseglutathione peroxidase 3 (plasma)plasma glutathione peroxidaseprotein S100-A8calgranulin Acalprotectin L1L subunitcystic fibrosis antigenleukocyte L1 complex light chainmigration inhibitory factor-related protein 8urinary stone protein band A
Modification date2020031320200329
UniProtAcc

P22352

.
Ensembl transtripts involved in fusion geneENST00000388825, ENST00000521722, 
ENST00000517973, 
ENST00000368732, 
ENST00000368733, ENST00000477801, 
Fusion gene scores* DoF score14 X 16 X 5=11209 X 9 X 4=324
# samples 1810
** MAII scorelog2(18/1120*10)=-2.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GPX3 [Title/Abstract] AND S100A8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGPX3(150407982)-S100A8(153362669), # 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
TgeneS100A8

GO:0002523

leukocyte migration involved in inflammatory response

12626582

TgeneS100A8

GO:0006914

autophagy

19935772

TgeneS100A8

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

19935772

TgeneS100A8

GO:0030593

neutrophil chemotaxis

12626582

TgeneS100A8

GO:0050729

positive regulation of inflammatory response

12626582

TgeneS100A8

GO:0070488

neutrophil aggregation

12626582

TgeneS100A8

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

19935772


check buttonFusion gene breakpoints across GPX3 (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 S100A8 (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/AAW794509GPX3chr5

150407982

+S100A8chr1

153362669

+


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Fusion Gene ORF analysis for GPX3-S100A8

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
3UTR-3CDSENST00000388825ENST00000368732GPX3chr5

150407982

+S100A8chr1

153362669

+
3UTR-3CDSENST00000388825ENST00000368733GPX3chr5

150407982

+S100A8chr1

153362669

+
3UTR-intronENST00000388825ENST00000477801GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-3CDSENST00000521722ENST00000368732GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-3CDSENST00000521722ENST00000368733GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-intronENST00000521722ENST00000477801GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-3CDSENST00000517973ENST00000368732GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-3CDSENST00000517973ENST00000368733GPX3chr5

150407982

+S100A8chr1

153362669

+
intron-intronENST00000517973ENST00000477801GPX3chr5

150407982

+S100A8chr1

153362669

+

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 GPX3-S100A8


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 GPX3-S100A8


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GPX3

P22352

.
FUNCTION: Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 GPX3-S100A8


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 GPX3-S100A8


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 GPX3-S100A8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGPX3P22352DB00143GlutathioneCofactorSmall moleculeApproved|Investigational|Nutraceutical
HgeneGPX3P22352DB00143GlutathioneCofactorSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for GPX3-S100A8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPX3C0014175Endometriosis2CTD_human
HgeneGPX3C0024121Lung Neoplasms2CTD_human
HgeneGPX3C0028754Obesity2CTD_human
HgeneGPX3C0242379Malignant neoplasm of lung2CTD_human
HgeneGPX3C0269102Endometrioma2CTD_human
HgeneGPX3C0001418Adenocarcinoma1CTD_human
HgeneGPX3C0006826Malignant Neoplasms1CTD_human
HgeneGPX3C0015624Fanconi Syndrome1CTD_human
HgeneGPX3C0021655Insulin Resistance1CTD_human
HgeneGPX3C0023903Liver neoplasms1CTD_human
HgeneGPX3C0027651Neoplasms1CTD_human
HgeneGPX3C0033578Prostatic Neoplasms1CTD_human
HgeneGPX3C0086692Benign Neoplasm1CTD_human
HgeneGPX3C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneGPX3C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneGPX3C0205643Carcinoma, Cribriform1CTD_human
HgeneGPX3C0205644Carcinoma, Granular Cell1CTD_human
HgeneGPX3C0205645Adenocarcinoma, Tubular1CTD_human
HgeneGPX3C0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneGPX3C0341703Adult Fanconi syndrome1CTD_human
HgeneGPX3C0345904Malignant neoplasm of liver1CTD_human
HgeneGPX3C0376358Malignant neoplasm of prostate1CTD_human
HgeneGPX3C0524851Neurodegenerative Disorders1CTD_human
HgeneGPX3C0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneGPX3C0920563Insulin Sensitivity1CTD_human
HgeneGPX3C1857395De Toni-Debre-Fanconi Syndrome1CTD_human
HgeneGPX3C3495427Fanconi-Bickel Syndrome1CTD_human
TgeneS100A8C0011615Dermatitis, Atopic1CTD_human
TgeneS100A8C0011616Contact Dermatitis1CTD_human
TgeneS100A8C0022548Keloid1CTD_human
TgeneS100A8C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneS100A8C0024667Animal Mammary Neoplasms1CTD_human
TgeneS100A8C0026998Acute Myeloid Leukemia, M11CTD_human
TgeneS100A8C0086196Eczema, Infantile1CTD_human
TgeneS100A8C0162351Contact hypersensitivity1CTD_human
TgeneS100A8C1257925Mammary Carcinoma, Animal1CTD_human
TgeneS100A8C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human