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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:ZNF84-CBFA2T2 (FusionGDB2 ID:102359)

Fusion Gene Summary for ZNF84-CBFA2T2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF84-CBFA2T2
Fusion gene ID: 102359
HgeneTgene
Gene symbol

ZNF84

CBFA2T2

Gene ID

7637

9139

Gene namezinc finger protein 84CBFA2/RUNX1 partner transcriptional co-repressor 2
SynonymsHPF2EHT|MTGR1|ZMYND3|p85
Cytomap

12q24.33|map from Rosati ref via FISH [AFS]

20q11.21-q11.22

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 84zinc finger protein HPF2protein CBFA2T2CBFA2/RUNX1 translocation partner 2ETO 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-rela
Modification date2020031320200313
UniProtAcc.

O43439

Ensembl transtripts involved in fusion geneENST00000392319, ENST00000543758, 
ENST00000539354, ENST00000327668, 
ENST00000538726, ENST00000535439, 
ENST00000451927, 		ENST00000342704, 
ENST00000375279, ENST00000344201, 
ENST00000397798, ENST00000346541, 
ENST00000397800, ENST00000492345, 
ENST00000359606, ENST00000491618, 
ENST00000543126, 
Fusion gene scores* DoF score3 X 3 X 2=1817 X 18 X 9=2754
# samples 325
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(25/2754*10)=-3.46152855947288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF84 [Title/Abstract] AND CBFA2T2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF84(133636185)-CBFA2T2(32085376), # 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
TgeneCBFA2T2

GO:0010976

positive regulation of neuron projection development

19026687

TgeneCBFA2T2

GO:0045892

negative regulation of transcription, DNA-templated

23251453


check buttonFusion gene breakpoints across ZNF84 (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 CBFA2T2 (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
ChiTaRS5.0N/ABF344479ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-


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Fusion Gene ORF analysis for ZNF84-CBFA2T2

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
3UTR-intronENST00000392319ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000392319ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000543758ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000539354ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
3UTR-intronENST00000327668ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000538726ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000535439ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000342704ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000375279ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000344201ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000397798ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000346541ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000397800ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000492345ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000359606ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000491618ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-
intron-intronENST00000451927ENST00000543126ZNF84chr12

133636185

+CBFA2T2chr20

32085376

-

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 ZNF84-CBFA2T2


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 ZNF84-CBFA2T2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

O43439

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity). {ECO:0000250|UniProtKB:O70374, ECO:0000269|PubMed:23251453, 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 ZNF84-CBFA2T2


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 ZNF84-CBFA2T2


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 ZNF84-CBFA2T2


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 ZNF84-CBFA2T2


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