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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: 5662

FusionGeneSummary for CBFA2T2_TOX2

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFA2T2_TOX2
Fusion gene ID: 5662
HgeneTgene
Gene symbol

CBFA2T2

TOX2

Gene ID

9139

84969

Gene nameCBFA2/RUNX1 translocation partner 2TOX high mobility group box family member 2
SynonymsEHT|MTGR1|ZMYND3|p85C20orf100|GCX-1|GCX1|dJ1108D11.2|dJ495O3.1
Cytomap

20q11.21-q11.22

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionprotein CBFA2T2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-related protein 1myeloid translocation-TOX high mobility group box family member 2granulosa cell HMG box 1
Modification date2018052320180522
UniProtAcc

O43439

Q96NM4

Ensembl transtripts involved in fusion geneENST00000342704, ENST00000375279, 
ENST00000344201, ENST00000397798, 
ENST00000346541, ENST00000397800, 
ENST00000492345, ENST00000359606, 
ENST00000491618, ENST00000543126, 
ENST00000341197, ENST00000423191, 
ENST00000372999, ENST00000358131, 
ENST00000435864, 
Fusion gene scores* DoF score11 X 4 X 6=26410 X 6 X 8=480
# samples 1210
** MAII scorelog2(12/264*10)=-1.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBFA2T2 [Title/Abstract] AND TOX2 [Title/Abstract] AND fusion [Title/Abstract]

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
HgeneCBFA2T2

GO:0010976

positive regulation of neuron projection development

19026687

HgeneCBFA2T2

GO:0045892

negative regulation of transcription, DNA-templated

23251453

TgeneTOX2

GO:0045944

positive regulation of transcription by RNA polymerase II

25352127


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
TCGALDOVTCGA-20-0991-01ACBFA2T2chr20

32078107

+TOX2chr20

42679946

+
* 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
Frame-shiftENST00000342704ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
Frame-shiftENST00000342704ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
Frame-shiftENST00000342704ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
Frame-shiftENST00000342704ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5CDS-3UTRENST00000342704ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5UTR-3CDSENST00000375279ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5UTR-3CDSENST00000375279ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5UTR-3CDSENST00000375279ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5UTR-3CDSENST00000375279ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
5UTR-3UTRENST00000375279ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000344201ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000344201ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000344201ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000344201ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000344201ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397798ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397798ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397798ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397798ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000397798ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000346541ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000346541ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000346541ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000346541ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000346541ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397800ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397800ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397800ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000397800ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000397800ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000492345ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000492345ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000492345ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000492345ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000492345ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000359606ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000359606ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000359606ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000359606ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000359606ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000491618ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000491618ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000491618ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000491618ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000491618ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000543126ENST00000341197CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000543126ENST00000423191CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000543126ENST00000372999CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3CDSENST00000543126ENST00000358131CBFA2T2chr20

32078107

+TOX2chr20

42679946

+
intron-3UTRENST00000543126ENST00000435864CBFA2T2chr20

32078107

+TOX2chr20

42679946

+

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FusionProtFeatures for CBFA2T2_TOX2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBFA2T2

O43439

TOX2

Q96NM4


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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FusionGeneSequence for CBFA2T2_TOX2


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).

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FusionGenePPI for CBFA2T2_TOX2


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
CBFA2T2WDYHV1, MDFI, RUNX1T1, CBFA2T3, TAL1, RUNX1, GTF2E1, ID3, NEUROG1, TAL2, FBXL19, PRDM14, SIN3A, NCOR1, HDAC3, ATN1, ATXN1L, RERE, APP, LBP, TCP1, CBFA2T2, PDP1, NOTCH3, PRDM6, TCF4TOX2APP, TOX, TOX4, AKT3, GINS4


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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RelatedDrugs for CBFA2T2_TOX2


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

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RelatedDiseases for CBFA2T2_TOX2


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