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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:PRDX6-EML4 (FusionGDB2 ID:HG9588TG27436)

Fusion Gene Summary for PRDX6-EML4

check button Fusion gene summary
Fusion gene informationFusion gene name: PRDX6-EML4
Fusion gene ID: hg9588tg27436
HgeneTgene
Gene symbol

PRDX6

EML4

Gene ID

9588

27436

Gene nameperoxiredoxin 6EMAP like 4
Synonyms1-Cys|AOP2|HEL-S-128m|NSGPx|PRX|aiPLA2|p29C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120
Cytomap('PRDX6')('EML4')

1q25.1

2p21

Type of geneprotein-codingprotein-coding
Descriptionperoxiredoxin-61-Cys PRX1-Cys peroxiredoxin24 kDa proteinacidic calcium-independent phospholipase A2antioxidant protein 2epididymis secretory sperm binding protein Li 128mliver 2D page spot 40non-selenium glutathione peroxidasered blood cells pagechinoderm microtubule-associated protein-like 4echinoderm microtubule associated protein like 4restrictedly overexpressed proliferation-associated proteinropp 120
Modification date2020031320200313
UniProtAcc.

Q9HC35

Ensembl transtripts involved in fusion geneENST00000340385, ENST00000470017, 
Fusion gene scores* DoF score8 X 8 X 6=3849 X 10 X 6=540
# samples 910
** MAII scorelog2(9/384*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/540*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRDX6 [Title/Abstract] AND EML4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRDX6(173457934)-EML4(42488627), # 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


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
ChimerDB4STADTCGA-HU-A4GY-01APRDX6chr1

173457934

+EML4chr2

42488627

+


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Fusion Gene ORF analysis for PRDX6-EML4

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-intronENST00000340385ENST00000318522PRDX6chr1

173457934

+EML4chr2

42488627

+
3UTR-intronENST00000340385ENST00000401738PRDX6chr1

173457934

+EML4chr2

42488627

+
3UTR-intronENST00000340385ENST00000402711PRDX6chr1

173457934

+EML4chr2

42488627

+
3UTR-intronENST00000340385ENST00000453191PRDX6chr1

173457934

+EML4chr2

42488627

+
3UTR-intronENST00000340385ENST00000482660PRDX6chr1

173457934

+EML4chr2

42488627

+
intron-intronENST00000470017ENST00000318522PRDX6chr1

173457934

+EML4chr2

42488627

+
intron-intronENST00000470017ENST00000401738PRDX6chr1

173457934

+EML4chr2

42488627

+
intron-intronENST00000470017ENST00000402711PRDX6chr1

173457934

+EML4chr2

42488627

+
intron-intronENST00000470017ENST00000453191PRDX6chr1

173457934

+EML4chr2

42488627

+
intron-intronENST00000470017ENST00000482660PRDX6chr1

173457934

+EML4chr2

42488627

+

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 PRDX6-EML4


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 PRDX6-EML4


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/:173457934/:42488627)
- 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
.EML4

Q9HC35

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: Essential for the formation and stability of microtubules (MTs) (PubMed:16890222, PubMed:31409757). Required for the organization of the mitotic spindle and for the proper attachment of kinetochores to MTs (PubMed:25789526). Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression (PubMed:25789526). {ECO:0000269|PubMed:16890222, ECO:0000269|PubMed:25789526, ECO:0000269|PubMed:31409757}.

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 PRDX6-EML4


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 PRDX6-EML4


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 PRDX6-EML4


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 PRDX6-EML4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRDX6C0011616Contact Dermatitis1CTD_human
HgenePRDX6C0013080Down Syndrome1CTD_human
HgenePRDX6C0024121Lung Neoplasms1CTD_human
HgenePRDX6C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgenePRDX6C0036341Schizophrenia1PSYGENET
HgenePRDX6C0151744Myocardial Ischemia1CTD_human
HgenePRDX6C0162351Contact hypersensitivity1CTD_human
HgenePRDX6C0242379Malignant neoplasm of lung1CTD_human
HgenePRDX6C0432416Down Syndrome, Partial Trisomy 211CTD_human
HgenePRDX6C0432417Trisomy 21, Meiotic Nondisjunction1CTD_human
HgenePRDX6C0751081Trisomy 21, Mitotic Nondisjunction1CTD_human
HgenePRDX6C2239176Liver carcinoma1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma6CTD_human
TgeneC0027627Neoplasm Metastasis2CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human