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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:ESCO1-ARHGAP28 (FusionGDB2 ID:27502)

Fusion Gene Summary for ESCO1-ARHGAP28

check button Fusion gene summary
Fusion gene informationFusion gene name: ESCO1-ARHGAP28
Fusion gene ID: 27502
HgeneTgene
Gene symbol

ESCO1

ARHGAP28

Gene ID

114799

79822

Gene nameestablishment of sister chromatid cohesion N-acetyltransferase 1Rho GTPase activating protein 28
SynonymsA930014I12Rik|CTF|ECO1|EFO1|ESO1-
Cytomap

18q11.2

18p11.31

Type of geneprotein-codingprotein-coding
DescriptionN-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1rho GTPase-activating protein 28rho-type GTPase-activating protein 28
Modification date2020031320200313
UniProtAcc

Q5FWF5

Q9P2N2

Ensembl transtripts involved in fusion geneENST00000269214, ENST00000580101, 
ENST00000383472, ENST00000400091, 
ENST00000262227, ENST00000314319, 
ENST00000418986, ENST00000419673, 
ENST00000531294, ENST00000532996, 
Fusion gene scores* DoF score15 X 9 X 10=13503 X 4 X 3=36
# samples 194
** MAII scorelog2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ESCO1 [Title/Abstract] AND ARHGAP28 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESCO1(19180584)-ARHGAP28(6824761), # 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
HgeneESCO1

GO:0018394

peptidyl-lysine acetylation

27112597


check buttonFusion gene breakpoints across ESCO1 (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 ARHGAP28 (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
ChimerDB4STADTCGA-VQ-AA6A-01AESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
ChimerDB4STADTCGA-VQ-AA6A-01AESCO1chr18

19180584

-ARHGAP28chr18

6824761

+


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Fusion Gene ORF analysis for ESCO1-ARHGAP28

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
5UTR-3CDSENST00000269214ENST00000383472ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-3CDSENST00000269214ENST00000400091ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-3CDSENST00000580101ENST00000383472ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-3CDSENST00000580101ENST00000400091ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-5UTRENST00000269214ENST00000262227ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-5UTRENST00000580101ENST00000262227ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000269214ENST00000262227ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000314319ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000314319ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000269214ENST00000383472ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000400091ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000418986ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000418986ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000269214ENST00000419673ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000419673ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000269214ENST00000531294ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000531294ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000269214ENST00000532996ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000269214ENST00000532996ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000580101ENST00000262227ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000314319ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000314319ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000580101ENST00000383472ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000400091ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000418986ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000418986ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000580101ENST00000419673ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000419673ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000580101ENST00000531294ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000531294ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+
5UTR-intronENST00000580101ENST00000532996ESCO1chr18

19180584

-ARHGAP28chr18

6778945

+
5UTR-intronENST00000580101ENST00000532996ESCO1chr18

19180584

-ARHGAP28chr18

6824761

+

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 ESCO1-ARHGAP28


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)
ESCO1chr1819180583-ARHGAP28chr186824760+0.0001941030.99980587
ESCO1chr1819180583-ARHGAP28chr186824760+0.0001941030.99980587

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 ESCO1-ARHGAP28


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/:19180584/:6824761)
- 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
ESCO1

Q5FWF5

ARHGAP28

Q9P2N2

FUNCTION: Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15958495, PubMed:18614053). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during S phase. Acts by mediating the acetylation of cohesin component SMC3 (PubMed:18614053). {ECO:0000269|PubMed:14576321, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:18614053, ECO:0000269|PubMed:19907496, ECO:0000269|PubMed:27112597, ECO:0000269|PubMed:27803161}.FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {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 ESCO1-ARHGAP28


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 ESCO1-ARHGAP28


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 ESCO1-ARHGAP28


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 ESCO1-ARHGAP28


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