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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:PIEZO1-CBFA2T3 (FusionGDB2 ID:HG9780TG863)

Fusion Gene Summary for PIEZO1-CBFA2T3

check button Fusion gene summary
Fusion gene informationFusion gene name: PIEZO1-CBFA2T3
Fusion gene ID: hg9780tg863
HgeneTgene
Gene symbol

PIEZO1

CBFA2T3

Gene ID

9780

863

Gene namepiezo type mechanosensitive ion channel component 1CBFA2/RUNX1 partner transcriptional co-repressor 3
SynonymsDHS|FAM38A|LMPH3|LMPHM6|MibETO2|MTG16|MTGR2|RUNX1T3|ZMYND4
Cytomap('FAM38A','PIEZO1')('CBFA2T3','CBFA2T3')

16q24.3

16q24.3

Type of geneprotein-codingprotein-coding
Descriptionpiezo-type mechanosensitive ion channel component 1family with sequence similarity 38, member Amembrane protein induced by beta-amyloid treatmentprotein CBFA2T3CBFA2/RUNX1 translocation partner 3MTG8-related gene 2MTG8-related protein 2core-binding factor, runt domain, alpha subunit 2; translocated to, 3myeloid translocation gene 8 and 16bmyeloid translocation gene on chromosome 16 proteinz
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000301015, ENST00000327397, 
Fusion gene scores* DoF score15 X 14 X 10=21006 X 6 X 4=144
# samples 216
** MAII scorelog2(21/2100*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIEZO1 [Title/Abstract] AND CBFA2T3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIEZO1(88815791)-CBFA2T3(88968064), # samples:3
FAM38A(88798114)-CBFA2T3(88968064), # samples:1
FAM38A(88815792)-CBFA2T3(88949169), # samples:1
FAM38A(88815792)-CBFA2T3(88968064), # samples:1
FAM38A(88851309)-CBFA2T3(88958893), # 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
TgeneCBFA2T3

GO:0001666

response to hypoxia

23840896

TgeneCBFA2T3

GO:0008285

negative regulation of cell proliferation

23840896

TgeneCBFA2T3

GO:0030851

granulocyte differentiation

15231665

TgeneCBFA2T3

GO:0045820

negative regulation of glycolytic process

23840896

TgeneCBFA2T3

GO:0045892

negative regulation of transcription, DNA-templated

23840896|25974097

TgeneCBFA2T3

GO:1903715

regulation of aerobic respiration

23840896



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CESCTCGA-DS-A1O9-01AFAM38Achr16

88815792

-CBFA2T3chr16

88949169

-
ChimerDB4ESCATCGA-2H-A9GGPIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
ChimerDB4ESCATCGA-L5-A4OQ-01AFAM38Achr16

88815792

-CBFA2T3chr16

88968064

-
ChimerDB4ESCATCGA-L5-A4OQPIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
ChimerDB4OVTCGA-57-1586-01AFAM38Achr16

88798114

-CBFA2T3chr16

88968064

-
ChimerDB4OVTCGA-57-1586-01APIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
ChimerDB4SKCMTCGA-Z2-AA3V-06AFAM38Achr16

88851309

-CBFA2T3chr16

88958893

-


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Fusion Gene ORF analysis for PIEZO1-CBFA2T3

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-5UTRENST00000301015ENST00000268679PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000268679PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000327483PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000327483PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000360302PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000360302PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000436887PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
5CDS-5UTRENST00000301015ENST00000436887PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
5CDS-intronENST00000301015ENST00000448839PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
5CDS-intronENST00000301015ENST00000448839PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000268679PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000268679PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000327483PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000327483PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000360302PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000360302PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000436887PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
intron-5UTRENST00000327397ENST00000436887PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-
intron-intronENST00000327397ENST00000448839PIEZO1chr16

88815791

-CBFA2T3chr16

88968064

-
intron-intronENST00000327397ENST00000448839PIEZO1chr16

88798114

-CBFA2T3chr16

88968064

-

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 PIEZO1-CBFA2T3


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)


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Fusion Protein Features for PIEZO1-CBFA2T3


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/:88815791/:88968064)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 PIEZO1-CBFA2T3


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 PIEZO1-CBFA2T3


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 PIEZO1-CBFA2T3


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 PIEZO1-CBFA2T3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIEZO1C4551512DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA7GENOMICS_ENGLAND;UNIPROT
HgenePIEZO1C4225184LYMPHATIC MALFORMATION 64CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePIEZO1C0272051Xerocytosis3GENOMICS_ENGLAND;ORPHANET
HgenePIEZO1C0272048stomatocytic anemia2GENOMICS_ENGLAND
HgenePIEZO1C0677598Stomatocytosis Result2GENOMICS_ENGLAND