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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-MAPK1 (FusionGDB2 ID:HG114799TG5594)

Fusion Gene Summary for ESCO1-MAPK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ESCO1-MAPK1
Fusion gene ID: hg114799tg5594
HgeneTgene
Gene symbol

ESCO1

MAPK1

Gene ID

114799

5594

Gene nameestablishment of sister chromatid cohesion N-acetyltransferase 1mitogen-activated protein kinase 1
SynonymsA930014I12Rik|CTF|ECO1|EFO1|ESO1ERK|ERK-2|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk|p42-MAPK
Cytomap('ESCO1')('MAPK1')

18q11.2

22q11.22

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 1hEFO1mitogen-activated protein kinase 1MAP kinase 1MAP kinase 2MAP kinase isoform p42MAPK 2extracellular signal-regulated kinase 2mitogen-activated protein kinase 2protein tyrosine kinase ERK2
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000269214, ENST00000580101, 
Fusion gene scores* DoF score15 X 9 X 10=135015 X 8 X 9=1080
# samples 1916
** MAII scorelog2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1080*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESCO1 [Title/Abstract] AND MAPK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESCO1(19111688)-MAPK1(22169640), # 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
HgeneESCO1

GO:0018394

peptidyl-lysine acetylation

27112597

TgeneMAPK1

GO:0006468

protein phosphorylation

23184662

TgeneMAPK1

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

16314496

TgeneMAPK1

GO:0018105

peptidyl-serine phosphorylation

15850461

TgeneMAPK1

GO:0034198

cellular response to amino acid starvation

11096076

TgeneMAPK1

GO:0038127

ERBB signaling pathway

15133037

TgeneMAPK1

GO:0051403

stress-activated MAPK cascade

11096076

TgeneMAPK1

GO:0070371

ERK1 and ERK2 cascade

16314496

TgeneMAPK1

GO:0070849

response to epidermal growth factor

18794356



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


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Fusion Gene ORF analysis for ESCO1-MAPK1

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

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-MAPK1


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 ESCO1-MAPK1


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/:19111688/:22169640)
- 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
..
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: 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 ESCO1-MAPK1


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-MAPK1


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-MAPK1


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-MAPK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0009171Cocaine Abuse2CTD_human
TgeneC0020429Hyperalgesia2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0236736Cocaine-Related Disorders2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0458247Allodynia2CTD_human
TgeneC0600427Cocaine Dependence2CTD_human
TgeneC0751211Hyperalgesia, Primary2CTD_human
TgeneC0751212Hyperalgesia, Secondary2CTD_human
TgeneC0751213Tactile Allodynia2CTD_human
TgeneC0751214Hyperalgesia, Thermal2CTD_human
TgeneC2936719Mechanical Allodynia2CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0017639Gliosis1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0020564Hypertrophy1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0022665Kidney Neoplasm1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0034189Pyemia1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0036690Septicemia1CTD_human
TgeneC0036920Sezary Syndrome1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0038587Substance Withdrawal Syndrome1CTD_human
TgeneC0040997Trigeminal Neuralgia1CTD_human
TgeneC0086189Drug Withdrawal Symptoms1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0087169Withdrawal Symptoms1CTD_human
TgeneC0155862Streptococcal pneumonia1CTD_human
TgeneC0178417Anhedonia1PSYGENET
TgeneC0243026Sepsis1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0393786Trigeminal Neuralgia, Idiopathic1CTD_human
TgeneC0393787Secondary Trigeminal Neuralgia1CTD_human
TgeneC0740457Malignant neoplasm of kidney1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1719672Severe Sepsis1CTD_human
TgeneC1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC3887640Astrocytosis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human