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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:RUNX1T1-E2F5 (FusionGDB2 ID:HG862TG1875)

Fusion Gene Summary for RUNX1T1-E2F5

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX1T1-E2F5
Fusion gene ID: hg862tg1875
HgeneTgene
Gene symbol

RUNX1T1

E2F5

Gene ID

862

1875

Gene nameRUNX1 partner transcriptional co-repressor 1E2F transcription factor 5
SynonymsAML1-MTG8|AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2E2F-5
Cytomap('RUNX1T1')('E2F5')

8q21.3

8q21.2

Type of geneprotein-codingprotein-coding
Descriptionprotein CBFA2T1RUNX1 translocation partner 1acute myelogenous leukemia 1 translocation 1, cyclin-D relatedcore-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-relatedeight twenty one proteinmyeloid translocation gene on 8q2transcription factor E2F5E2F transcription factor 5, p130-binding
Modification date2020031520200313
UniProtAcc

Q06455

Q15329

Ensembl transtripts involved in fusion geneENST00000523629, ENST00000265814, 
ENST00000360348, ENST00000396218, 
ENST00000422361, ENST00000436581, 
ENST00000518844, ENST00000520724, 
ENST00000521553, ENST00000522163, 
Fusion gene scores* DoF score12 X 31 X 5=18606 X 6 X 4=144
# samples 277
** MAII scorelog2(27/1860*10)=-2.78427130894456
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RUNX1T1 [Title/Abstract] AND E2F5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRUNX1T1(93115085)-E2F5(86114382), # samples:2
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
HgeneRUNX1T1

GO:0045892

negative regulation of transcription, DNA-templated

23251453



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
ChimerDB4SARCTCGA-DX-A3M1-01ARUNX1T1chr8

93115085

-E2F5chr8

86114382

+


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Fusion Gene ORF analysis for RUNX1T1-E2F5

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-3CDSENST00000523629ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
5UTR-3CDSENST00000523629ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
5UTR-3CDSENST00000523629ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
5UTR-3UTRENST00000523629ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
5UTR-5UTRENST00000523629ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
5UTR-5UTRENST00000523629ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000265814ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000265814ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000265814ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000360348ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000360348ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000360348ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000396218ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000396218ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000396218ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000422361ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000422361ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000422361ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000436581ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000436581ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000436581ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000518844ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000518844ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000518844ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000520724ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000520724ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000520724ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000521553ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000521553ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000521553ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000522163ENST00000256117RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000522163ENST00000416274RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3CDSENST00000522163ENST00000418930RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000265814ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000360348ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000396218ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000422361ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000436581ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000518844ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000520724ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000521553ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-3UTRENST00000522163ENST00000519128RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000265814ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000265814ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000360348ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000360348ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000396218ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000396218ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000422361ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000422361ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000436581ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000436581ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000518844ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000518844ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000520724ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000520724ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000521553ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000521553ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000522163ENST00000517476RUNX1T1chr8

93115085

-E2F5chr8

86114382

+
intron-5UTRENST00000522163ENST00000521429RUNX1T1chr8

93115085

-E2F5chr8

86114382

+

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 RUNX1T1-E2F5


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)
RUNX1T1chr893115084-E2F5chr886114381+0.0057922230.99420774
RUNX1T1chr893115084-E2F5chr886114381+0.0057922230.99420774


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 RUNX1T1-E2F5


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/:93115085/:86114382)
- 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
RUNX1T1

Q06455

E2F5

Q15329

FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199, PubMed:10688654). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). {ECO:0000250|UniProtKB:Q61909, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:10973986, ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23812588, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.FUNCTION: Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor-initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. {ECO:0000250|UniProtKB:Q6DE14}.

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 RUNX1T1-E2F5


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 RUNX1T1-E2F5


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 RUNX1T1-E2F5


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 RUNX1T1-E2F5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX1T1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneRUNX1T1C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneRUNX1T1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneRUNX1T1C0149925Small cell carcinoma of lung1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human