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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:CBFB-ATP13A3 (FusionGDB2 ID:HG865TG79572)

Fusion Gene Summary for CBFB-ATP13A3

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFB-ATP13A3
Fusion gene ID: hg865tg79572
HgeneTgene
Gene symbol

CBFB

ATP13A3

Gene ID

865

79572

Gene namecore-binding factor subunit betaATPase 13A3
SynonymsPEBP2BAFURS1
Cytomap('CBFB')('ATP13A3')

16q22.1

3q29

Type of geneprotein-codingprotein-coding
Descriptioncore-binding factor subunit betaCBF-betaPEA2-betaPEBP2-betaSL3-3 enhancer factor 1 beta subunitSL3-3 enhancer factor 1 subunit betaSL3/AKV core-binding factor beta subunitcore-binding factor beta subunitpolyomavirus enhancer binding protein 2, betprobable cation-transporting ATPase 13A3ATPase family homolog up-regulated in senescence cells 1ATPase type 13A3
Modification date2020032020200313
UniProtAcc

Q13951

.
Ensembl transtripts involved in fusion geneENST00000290858, ENST00000412916, 
ENST00000561924, ENST00000568858, 
Fusion gene scores* DoF score17 X 18 X 12=36727 X 9 X 5=315
# samples 3311
** MAII scorelog2(33/3672*10)=-3.47602812916799
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBFB [Title/Abstract] AND ATP13A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBFB(67063716)-ATP13A3(194182965), # samples:1
CBFB(67070658)-ATP13A3(194182965), # 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


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
ChimerDB4HNSCTCGA-CR-7388-01ACBFBchr16

67063716

+ATP13A3chr3

194182965

-
ChimerDB4HNSCTCGA-CR-7388-01ACBFBchr16

67070658

-ATP13A3chr3

194182965

-


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Fusion Gene ORF analysis for CBFB-ATP13A3

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-5UTRENST00000290858ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000256031CBFBchr16

67070658

-ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000439040CBFBchr16

67070658

-ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000256031CBFBchr16

67070658

-ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000439040CBFBchr16

67070658

-ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000256031CBFBchr16

67070658

-ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000439040CBFBchr16

67070658

-ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000256031CBFBchr16

67070658

-ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000439040CBFBchr16

67070658

-ATP13A3chr3

194182965

-

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 CBFB-ATP13A3


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 CBFB-ATP13A3


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/:67063716/:194182965)
- 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
CBFB

Q13951

.
FUNCTION: Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. {ECO:0000250|UniProtKB:Q08024}.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 CBFB-ATP13A3


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 CBFB-ATP13A3


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 CBFB-ATP13A3


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 CBFB-ATP13A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBFBC0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneCBFBC0023479Acute myelomonocytic leukemia2CTD_human;ORPHANET
HgeneCBFBC0026998Acute Myeloid Leukemia, M12CTD_human
HgeneCBFBC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneCBFBC0005941Bone Diseases, Developmental1CTD_human
HgeneCBFBC0008925Cleft Palate1CTD_human
HgeneCBFBC0018798Congenital Heart Defects1CTD_human
HgeneCBFBC0029396Heterotopic Ossification1CTD_human
HgeneCBFBC1837218Cleft palate, isolated1CTD_human
TgeneC0340543Familial primary pulmonary hypertension1GENOMICS_ENGLAND
TgeneC11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND