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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:EPS15L1-ZNF568 (FusionGDB2 ID:27086)

Fusion Gene Summary for EPS15L1-ZNF568

check button Fusion gene summary
Fusion gene informationFusion gene name: EPS15L1-ZNF568
Fusion gene ID: 27086
HgeneTgene
Gene symbol

EPS15L1

ZNF568

Gene ID

58513

374900

Gene nameepidermal growth factor receptor pathway substrate 15 like 1zinc finger protein 568
SynonymsEPS15RZFP568
Cytomap

19p13.11

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related proteinzinc finger protein 568
Modification date2020031320200313
UniProtAcc

Q9UBC2

.
Ensembl transtripts involved in fusion geneENST00000248070, ENST00000455140, 
ENST00000535753, ENST00000594975, 
ENST00000597937, ENST00000602009, 
ENST00000333987, ENST00000427117, 
ENST00000415168, ENST00000455427, 
ENST00000586353, 
Fusion gene scores* DoF score23 X 17 X 14=54745 X 5 X 3=75
# samples 345
** MAII scorelog2(34/5474*10)=-4.00898878322726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPS15L1 [Title/Abstract] AND ZNF568 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPS15L1(16524584)-ZNF568(37413488), # samples:3
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 buttonFusion gene breakpoints across EPS15L1 (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 ZNF568 (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
ChimerDB4SKCMTCGA-ER-A19M-06AEPS15L1chr19

16524584

-ZNF568chr19

37413488

+


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Fusion Gene ORF analysis for EPS15L1-ZNF568

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-5UTRENST00000248070ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000248070ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000455140ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000455140ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000535753ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000535753ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000594975ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000594975ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000597937ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000597937ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000602009ENST00000333987EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-5UTRENST00000602009ENST00000427117EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000248070ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000248070ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000248070ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000455140ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000455140ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000455140ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000535753ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000535753ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000535753ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000594975ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000594975ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000594975ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000597937ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000597937ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000597937ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000602009ENST00000415168EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000602009ENST00000455427EPS15L1chr19

16524584

-ZNF568chr19

37413488

+
5CDS-intronENST00000602009ENST00000586353EPS15L1chr19

16524584

-ZNF568chr19

37413488

+

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 EPS15L1-ZNF568


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)
EPS15L1chr1916524583-ZNF568chr1937413487+0.086679060.91332096
EPS15L1chr1916524583-ZNF568chr1937413487+0.086679060.91332096

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.
genomic feature of top 1%

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Fusion Protein Features for EPS15L1-ZNF568


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/:16524584/:37413488)
- 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
EPS15L1

Q9UBC2

.
FUNCTION: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}.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 EPS15L1-ZNF568


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 EPS15L1-ZNF568


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 EPS15L1-ZNF568


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 EPS15L1-ZNF568


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