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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-KANK1 (FusionGDB2 ID:HG114799TG23189)

Fusion Gene Summary for ESCO1-KANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ESCO1-KANK1
Fusion gene ID: hg114799tg23189
HgeneTgene
Gene symbol

ESCO1

KANK1

Gene ID

114799

23189

Gene nameestablishment of sister chromatid cohesion N-acetyltransferase 1KN motif and ankyrin repeat domains 1
SynonymsA930014I12Rik|CTF|ECO1|EFO1|ESO1ANKRD15|CPSQ2|KANK
Cytomap('ESCO1')('KANK1')

18q11.2

9p24.3

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 1hEFO1KN motif and ankyrin repeat domain-containing protein 1ankyrin repeat domain-containing protein 15kidney ankyrin repeat-containing protein
Modification date2020031320200313
UniProtAcc.

Q14678

Ensembl transtripts involved in fusion geneENST00000269214, ENST00000580101, 
Fusion gene scores* DoF score15 X 9 X 10=135011 X 9 X 8=792
# samples 1912
** MAII scorelog2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/792*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESCO1 [Title/Abstract] AND KANK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESCO1(19180584)-KANK1(710804), # 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

TgeneKANK1

GO:0010977

negative regulation of neuron projection development

19171758

TgeneKANK1

GO:0030177

positive regulation of Wnt signaling pathway

16968744

TgeneKANK1

GO:0030837

negative regulation of actin filament polymerization

17996375|18458160

TgeneKANK1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

19171758

TgeneKANK1

GO:1900028

negative regulation of ruffle assembly

19171758

TgeneKANK1

GO:2000393

negative regulation of lamellipodium morphogenesis

19171758



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-AN-A0AR-01AESCO1chr18

19180584

-KANK1chr9

710804

+


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Fusion Gene ORF analysis for ESCO1-KANK1

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-3CDSENST00000269214ENST00000382303ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-3CDSENST00000580101ENST00000382303ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-3UTRENST00000269214ENST00000382297ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-3UTRENST00000269214ENST00000489369ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-3UTRENST00000580101ENST00000382297ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-3UTRENST00000580101ENST00000489369ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-5UTRENST00000269214ENST00000382293ESCO1chr18

19180584

-KANK1chr9

710804

+
5UTR-5UTRENST00000580101ENST00000382293ESCO1chr18

19180584

-KANK1chr9

710804

+

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-KANK1


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-KANK1chr9710803+7.66E-060.9999924
ESCO1chr1819180583-KANK1chr9710803+7.66E-060.9999924


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-KANK1


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/:710804)
- 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
.KANK1

Q14678

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: Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457). {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160, ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092, ECO:0000269|PubMed:25961457}.

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-KANK1


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-KANK1


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-KANK1


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-KANK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0008370Cholestasis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027726Nephrotic Syndrome1GENOMICS_ENGLAND
TgeneC2751938Cerebral Palsy, Spastic Quadriplegic, 11ORPHANET
TgeneC2752061Cerebral Palsy, Spastic Quadriplegic, 21CTD_human;GENOMICS_ENGLAND