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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12191

FusionGeneSummary for ETV6_RUNX1

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_RUNX1
Fusion gene ID: 12191
HgeneTgene
Gene symbol

ETV6

RUNX1

Gene ID

2120

861

Gene nameETS variant 6runt related 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-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 date2018052320180527
UniProtAcc

P41212

Q01196

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000344691, ENST00000325074, 
ENST00000437180, ENST00000300305, 
ENST00000399240, ENST00000486278, 
ENST00000494829, ENST00000358356, 
Fusion gene scores* DoF score23 X 26 X 11=657817 X 29 X 7=3451
# samples 4733
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/3451*10)=-3.3864765441897
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]

Clonal variation of the immunogenotype in relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia indicates subclone formation during early stages of leukemia development. (pmid: 14695996)
Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1EU364772ETV6chr12

12022903

+RUNX1chr21

36265263

-
ChiTaRS3.1DQ451147ETV6chr12

12268261

+RUNX1chr21

36265262

-
ChiTaRS3.1DQ100458ETV6chr12

12030685

+RUNX1chr21

36343241

-
ChiTaRS3.1DQ207765ETV6chr12

12028545

+RUNX1chr21

36421029

-
ChiTaRS3.1DQ100456ETV6chr12

12032960

+RUNX1chr21

36308426

-
ChiTaRS3.1DQ207767ETV6chr12

12031402

+RUNX1chr21

36276309

-
ChiTaRS3.1DQ207762ETV6chr12

12033885

+RUNX1chr21

36408483

-
ChiTaRS3.1DQ207769ETV6chr12

12032695

+RUNX1chr21

36283062

-
ChiTaRS3.1DQ224378ETV6chr12

12023073

+RUNX1chr21

36376489

-
ChiTaRS3.1DQ207764ETV6chr12

12024122

+RUNX1chr21

36306767

-
ChiTaRS3.1DQ224380ETV6chr12

12036826

+RUNX1chr21

36407500

-
ChiTaRS3.1DQ100455ETV6chr12

12026182

+RUNX1chr21

36271445

-
ChiTaRS3.1AJ494735ETV6chr12

12035545

+RUNX1chr21

36264863

-
ChiTaRS3.1AJ494736ETV6chr12

12036849

+RUNX1chr21

36281179

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000396373ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-5UTRENST00000396373ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265263

-
5CDS-intronENST00000396373ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-5UTRENST00000544715ENST00000486278ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12022903

+RUNX1chr21

36265263

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-5UTRENST00000396373ENST00000486278ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-5UTRENST00000544715ENST00000486278ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12268261

+RUNX1chr21

36265262

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12030685

+RUNX1chr21

36343241

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12028545

+RUNX1chr21

36421029

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12032960

+RUNX1chr21

36308426

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12031402

+RUNX1chr21

36276309

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12033885

+RUNX1chr21

36408483

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12032695

+RUNX1chr21

36283062

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12023073

+RUNX1chr21

36376489

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12024122

+RUNX1chr21

36306767

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12036826

+RUNX1chr21

36407500

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12026182

+RUNX1chr21

36271445

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12035545

+RUNX1chr21

36264863

-
intron-intronENST00000396373ENST00000344691ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000325074ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000437180ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000300305ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000399240ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000486278ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000494829ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000396373ENST00000358356ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000344691ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000325074ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000437180ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000300305ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000399240ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000486278ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000494829ETV6chr12

12036849

+RUNX1chr21

36281179

-
intron-intronENST00000544715ENST00000358356ETV6chr12

12036849

+RUNX1chr21

36281179

-

Top

FusionProtFeatures for ETV6_RUNX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

RUNX1

Q01196

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

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


Top

FusionGeneSequence for ETV6_RUNX1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI 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
ETV6KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2RUNX1SUV39H1, KAT6B, CBFB, AES, PAX5, YAP1, JUN, FOS, SMAD3, SMAD1, SMAD2, SMAD5, VDR, ELF4, ELF2, CEBPB, TLE1, CBFA2T2, TRAF6, FHL2, MYOD1, HIPK2, EP300, HDAC1, HDAC3, KAT6A, TCF12, TCF3, RUNX1T1, NCOR1, SIAH1, UBE2L6, RUNX1, PML, RARA, HDAC2, SIN3A, NR4A2, TRIM33, STUB1, SMARCA4, SMARCB1, SMARCC1, CDK1, TAL1, COPRS, KMT2A, RBM14, SPEN, DNMT1, ELAVL1, CBFA2T3, PRMT1, HLA-DMA, CREBBP, UXT, CTBP2, NOTCH1, MYC, NCOR2, FOXP3, SOX2, CTBP1, HDAC11, RAG1, SPI1, ELF1, CDK6, KLF6, NFATC1, NFATC2, ZNF131, BRCA1, CDK9, FANCD2


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


Top

RelatedDrugs for ETV6_RUNX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ETV6_RUNX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT
TgeneRUNX1C0023467Leukemia, Myelocytic, Acute2CTD_human;HPO
TgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
TgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
TgeneRUNX1C0017636Glioblastoma1CTD_human
TgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
TgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1CTD_human;ORPHANET;UNIPROT
TgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human