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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:ETV6-RUNX1 (FusionGDB2 ID:27748)

Fusion Gene Summary for ETV6-RUNX1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6-RUNX1
Fusion gene ID: 27748
HgeneTgene
Gene symbol

ETV6

RUNX1

Gene ID

2120

861

Gene nameETS variant transcription factor 6RUNX family transcription factor 1
SynonymsTEL|TEL/ABL|THC5AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha
Cytomap

12p13.2

21q22.12

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)runt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2
Modification date2020031320200322
UniProtAcc

P41212

Q06455

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000486278, ENST00000300305, 
ENST00000325074, ENST00000344691, 
ENST00000358356, ENST00000399240, 
ENST00000437180, ENST00000494829, 
Fusion gene scores* DoF score59 X 37 X 25=5457536 X 59 X 13=27612
# samples 5863
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(63/27612*10)=-5.45379975055797
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETV6 [Title/Abstract] AND RUNX1 [Title/Abstract] AND fusion [Title/Abstract]

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia (pmid: 27265895)
Most frequent breakpointETV6(12022903)-RUNX1(36265263), # 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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502

TgeneRUNX1

GO:0030097

hemopoiesis

21873977

TgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

TgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977


check buttonFusion gene breakpoints across ETV6 (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 RUNX1 (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
ChimerDB4biphenotypic leukemia;acute lymphoblastic leukemia;lymphoblastic lymphomaAJ494735ETV6chr12

12035545

RUNX1chr21

36264754

ChimerKB3..ETV6chr12

12022903

+RUNX1chr21

36265260

-
ChimerKB4..ETV6chr12

12022357

+RUNX1chr21

12022357

-
ChimerKB4..ETV6chr12

12022903

+RUNX1chr21

36265260

-
ChiTaRS5.0N/AAJ494735ETV6chr12

12035545

+RUNX1chr21

36264863

-
ChiTaRS5.0N/AAJ494736ETV6chr12

12036849

+RUNX1chr21

36281179

-
ChiTaRS5.0N/ADQ100455ETV6chr12

12026182

+RUNX1chr21

36271445

-
ChiTaRS5.0N/ADQ100456ETV6chr12

12032960

+RUNX1chr21

36308426

-
ChiTaRS5.0N/ADQ100458ETV6chr12

12030685

+RUNX1chr21

36343241

-
ChiTaRS5.0N/ADQ207762ETV6chr12

12033885

+RUNX1chr21

36408887

-
ChiTaRS5.0N/ADQ207764ETV6chr12

12024122

+RUNX1chr21

36306767

-
ChiTaRS5.0N/ADQ207765ETV6chr12

12028545

+RUNX1chr21

36421029

-
ChiTaRS5.0N/ADQ207767ETV6chr12

12031402

+RUNX1chr21

36276309

-
ChiTaRS5.0N/ADQ207769ETV6chr12

12032695

+RUNX1chr21

36283062

-
ChiTaRS5.0N/ADQ224378ETV6chr12

12023073

+RUNX1chr21

36376489

-
ChiTaRS5.0N/ADQ224379ETV6chr12

12024378

+RUNX1chr21

36394967

-
ChiTaRS5.0N/ADQ224380ETV6chr12

12036826

+RUNX1chr21

36407500

-
ChiTaRS5.0N/AEU364772ETV6chr12

12022903

+RUNX1chr21

36265263

-
ChiTaRS5.0N/AMH401092ETV6chr12

12022903

+RUNX1chr21

36265263

-


Top

Fusion Gene ORF analysis for ETV6-RUNX1

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-5UTRENST00000396373ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000396373ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265260

-
5CDS-intronENST00000396373ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-5UTRENST00000544715ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-5UTRENST00000544715ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000300305ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000325074ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000344691ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000358356ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000399240ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000437180ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000486278ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000396373ENST00000494829ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000486278ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12035545

RUNX1chr21

36264754

intron-intronENST00000544715ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265260

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12022357

+RUNX1chr21

12022357

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12033885

+RUNX1chr21

36408887

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12024378

+RUNX1chr21

36394967

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265263

-

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 ETV6-RUNX1


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)

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.

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Fusion Protein Features for ETV6-RUNX1


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/:12022903/:36265263)
- 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
ETV6

P41212

RUNX1

Q06455

FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.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}.

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 ETV6-RUNX1


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 ETV6-RUNX1


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 ETV6-RUNX1


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 ETV6-RUNX1


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