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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-PLEKHG4 (FusionGDB2 ID:HG865TG25894)

Fusion Gene Summary for CBFB-PLEKHG4

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFB-PLEKHG4
Fusion gene ID: hg865tg25894
HgeneTgene
Gene symbol

CBFB

PLEKHG4

Gene ID

865

25894

Gene namecore-binding factor subunit betapleckstrin homology and RhoGEF domain containing G4
SynonymsPEBP2BARHGEF44|PRTPHN1|SCA4
Cytomap('CBFB')('PLEKHG4')

16q22.1

16q22.1

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, betpuratrophin-1PH domain-containing family G member 4Purkinje cell atrophy associated protein 1pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Modification date2020032020200313
UniProtAcc

Q13951

.
Ensembl transtripts involved in fusion geneENST00000290858, ENST00000412916, 
ENST00000561924, ENST00000568858, 
Fusion gene scores* DoF score17 X 18 X 12=36722 X 4 X 2=16
# samples 332
** MAII scorelog2(33/3672*10)=-3.47602812916799
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/16*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBFB [Title/Abstract] AND PLEKHG4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBFB(67116211)-PLEKHG4(67312644), # samples:2
Anticipated loss of major functional domain due to fusion event.CBFB-PLEKHG4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CBFB-PLEKHG4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CBFB-PLEKHG4 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CBFB-PLEKHG4 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across CBFB (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PLEKHG4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4OVTCGA-13-1407-01ACBFBchr16

67116211

+PLEKHG4chr16

67311680

+
ChimerDB4OVTCGA-13-1407-01ACBFBchr16

67116211

+PLEKHG4chr16

67312644

+
ChimerDB4OVTCGA-13-1407-01ACBFBchr16

67116211

+PLEKHG4chr16

67314028

+


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Fusion Gene ORF analysis for CBFB-PLEKHG4

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-5UTRENST00000290858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-5UTRENST00000290858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-5UTRENST00000412916ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-5UTRENST00000412916ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-5UTRENST00000561924ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-5UTRENST00000561924ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000290858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000290858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000290858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000290858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000290858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000290858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000412916ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000412916ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000412916ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000412916ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000412916ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000412916ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000561924ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000561924ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000561924ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000561924ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
5CDS-intronENST00000561924ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
5CDS-intronENST00000561924ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
Frame-shiftENST00000290858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000290858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000290858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000290858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000412916ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000412916ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000561924ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000561924ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000561924ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
Frame-shiftENST00000561924ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
In-frameENST00000412916ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
In-frameENST00000412916ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
intron-3CDSENST00000568858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
intron-3CDSENST00000568858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
intron-3CDSENST00000568858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
intron-3CDSENST00000568858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67314028

+
intron-5UTRENST00000568858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
intron-5UTRENST00000568858ENST00000360461CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
intron-intronENST00000568858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
intron-intronENST00000568858ENST00000379344CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
intron-intronENST00000568858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
intron-intronENST00000568858ENST00000427155CBFBchr16

67116211

+PLEKHG4chr16

67312644

+
intron-intronENST00000568858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67311680

+
intron-intronENST00000568858ENST00000450733CBFBchr16

67116211

+PLEKHG4chr16

67312644

+

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)
ENST00000412916CBFBchr1667116211+ENST00000360461PLEKHG4chr1667314028+482465816341521329
ENST00000412916CBFBchr1667116211+ENST00000450733PLEKHG4chr1667314028+460165816339091248

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
ENST00000412916ENST00000360461CBFBchr1667116211+PLEKHG4chr1667314028+0.0052883780.99471164
ENST00000412916ENST00000450733CBFBchr1667116211+PLEKHG4chr1667314028+0.0054794750.99452055

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Fusion Genomic Features for CBFB-PLEKHG4


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.
genomic feature

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Fusion Protein Features for CBFB-PLEKHG4


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/chr16:67116211/chr16:67312644)
- 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
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000360461021732_90801192.0DomainDH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000360461021920_102701192.0DomainPH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000379344022732_90801192.0DomainDH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000379344022920_102701192.0DomainPH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000427155022732_90801192.0DomainDH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000427155022920_102701192.0DomainPH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000450733020732_90801111.0DomainDH
TgenePLEKHG4chr16:67116211chr16:67314028ENST00000450733020920_102701111.0DomainPH

- 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-PLEKHG4


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.
>13376_13376_1_CBFB-PLEKHG4_CBFB_chr16_67116211_ENST00000412916_PLEKHG4_chr16_67314028_ENST00000360461_length(transcript)=4824nt_BP=658nt
AGACTCCCCGGAACGGGAGCCCACGCGGGCGGGCGCCTGAAACAAAGGGAAGCGGGCGTCCGGGCGCCGCGGGTGGGCGGTCAGTCGGTC
AGCGCGGAGCCAGCCAGCGGGTGCCCGCGCAAGCCCCGAGCGCGGCCGGCCGGCGCGGCCTCAGGGCGGGAAGATGCCGCGCGTCGTGCC
CGACCAGAGAAGCAAGTTCGAGAACGAGGAGTTTTTTAGGAAGCTGAGCCGCGAGTGTGAGATTAAGTACACGGGCTTCAGGGACCGGCC
CCACGAGGAACGCCAGGCACGCTTCCAGAACGCCTGCCGCGACGGCCGCTCGGAAATCGCTTTTGTGGCCACAGGAACCAATCTGTCTCT
CCAGTTTTTTCCGGCCAGCTGGCAGGGAGAACAGCGACAAACACCTAGCCGAGAGTATGTCGACTTAGAAAGAGAAGCAGGCAAGGTATA
TTTGAAGGCTCCCATGATTCTGAATGGAGTCTGTGTTATCTGGAAAGGCTGGATTGATCTCCAAAGACTGGATGGTATGGGCTGTCTGGA
GTTTGATGAGGAGCGAGCCCAGCAGGAGGATGCATTAGCACAACAGGCCTTTGAAGAGGCTCGGAGAAGGACACGCGAATTTGAAGATAG
AGACAGGTCTCATCGGGAGGAAATGGAGTTCAGGGATGCCTGGGAAGAGGAGGAACCTGCTTCCCAGATGCACGTTAAGGACCCAGGTCC
TCCAAGACCACCAGCCGGGGCCACCCAGGATGAGGAGCTACAGGGCAGCCCCTTGTCCAGGAAATTCCAGTTACCCCCAGCTGCAGATGA
GTCGGGGGATGCCCAGAGGGGCACAGTAGAAAGCTCCTCAGTCCTGTCAGAAGGGCCAGGCCCCTCTGGAGTGGAGAGTCTCCTATGCCC
CATGTCCTCCCACCTCAGCTTGGCACAGGGTGAGAGTGACACCCCAGGGGTAGGGTTGGTAGGGGACCCAGGTCCAAGCAGGGCGATGCC
ATCTGGCTTGAGCCCTGGGGCATTGGACAGCGACCCTGTGGGCCTTGGAGACCCTTTATCAGAAATATCAAAGCTGCTGGAGGCAGCCCC
CAGTGGATCCGGCCTCCCTAAGCCTGCTGACTGCCTCCTGGCCCAAGACCTCTGTTGGGAGCTGCTGGCCAGTGGTATGGCCACCTTGCC
AGGGACTCGGGATGTCCAAGGCCGGGCAGTGCTGCTTCTGTGTGCCCACAGCCCAGCCTGGCTTCAGTCTGAGTGCAGCAGCCAGGAACT
CATCCGCCTCCTGCTGTACCTGCGAAGCATCCCCAGGCCCGAAGTACAGGCACTGGGACTGACAGTGCTAGTTGATGCCCGAATTTGTGC
TCCAAGTTCTTCCCTCTTCTCTGGGCTCAGCCAACTACAAGAAGCAGCCCCAGGGGCCGTGTACCAGGTGCTGCTAGTGGGAAGCACGCT
GCTGAAGGAAGTGCCTTCCGGGCTGCAGCTGGAGCAGTTGCCTTCTCAGAGCCTGCTGACCCACATCCCAACGGCGGGGCTGCCCACTTC
GCTAGGAGGAGGCCTGCCTTACTGCCACCAGGCCTGGCTGGATTTCCGAAGGCGGCTGGAAGCTCTACTACAGAACTGCCAGGCAGCTTG
TGCCCTGCTCCAGGGGGCCATCGAAAGTGTGAAGGCTGTGCCCCAGCCCATGGAGCCTGGGGAGGTCGGTCAGCTGCTACAGCAGACAGA
GGTCCTGATGCAGCAGGTGCTAGACTCGCCATGGCTGGCATGGCTACAATGCCAGGGGGGCCGGGAGCTGACATGGCTGAAGCAAGAGGT
CCCAGAGGTGACCCTGAGCCCAGACTACAGGACGGCAATGGACAAGGCTGACGAGCTATATGACCGGGTGGATGGATTGCTGCACCAACT
GACCCTGCAGAGCAACCAGCGAATACAGGCCCTAGAGTTGGTCCAAACACTGGAGGCCCGGGAAAGCGGACTGCACCAGATTGAAGTGTG
GCTGCAGCAGGTGGGCTGGCCAGCACTGGAGGAGGCTGGGGAGCCCTCGCTGGACATGCTGCTCCAGGCCCAAGGCTCTTTTCAGGAGCT
GTACCAGGTTGCCCAGGAGCAGGTCAGGCAAGGGGAGAAGTTTCTGCAGCCGCTGACTGGCTGGGAGGCGGCTGAACTGGACCCCCCTGG
GGCACGCTTTCTGGCCCTGCGAGCCCAGCTGACTGAATTCTCTAGGGCTTTGGCCCAGCGGTGCCAGCGGCTGGCGGATGCTGAGAGGCT
GTTTCAGCTCTTCAGGGAGGCCTTGACGTGGGCTGAGGAGGGGCAGCGAGTGTTGGCAGAGCTGGAGCAGGAACGCCCGGGGGTTGTGTT
GCAGCAGCTGCAGCTGCACTGGACCAGGCACCCTGACTTGCCTCCTGCCCACTTCCGAAAGATGTGGGCTCTGGCCACGGGGCTGGGCTC
AGAGGCCATCCGCCAGGAGTGCCGCTGGGCCTGGGCGCGGTGCCAGGACACCTGGCTGGCCCTGGACCAAAAGCTTGAGGCTTCACTGAA
GCTACCACCGGTGGGCAGCACAGCTAGCCTGTGTGTCAGCCAGGTCCCCGCTGCACCTGCCCACCCTCCCCTGAGGAAGGCCTACAGCTT
CGATCGGAATCTGGGGCAGAGTCTCAGTGAACCTGCCTGCCACTGCCACCATGCGGCCACTATTGCTGCCTGCCGCAGACCAGAGGCTGG
AGGAGGTGCCCTGCCCCAGGCATCCCCTACTGTGCCTCCACCAGGCAGCTCTGACCCCAGGAGCCTCAACAGGCTACAGCTGGTGCTGGC
AGAGATGGTGGCCACGGAGCGGGAGTATGTCCGGGCTCTAGAGTACACTATGGAGAACTATTTCCCCGAGCTGGATCGCCCCGATGTGCC
CCAGGGCCTCCGCGGTCAGCGTGCCCACCTCTTTGGCAACCTGGAGAAGCTGCGGGACTTCCACTGCCACTTCTTCCTGCGTGAGCTGGA
GGCTTGCACCCGGCACCCACCACGAGTGGCCTATGCCTTCCTGCGCCATAGGGTGCAGTTTGGGATGTACGCGCTCTACAGCAAGAATAA
GCCTCGCTCCGATGCCCTGATGTCAAGCTATGGGCACACCTTCTTCAAGGACAAGCAGCAAGCACTGGGGGACCACCTGGACCTGGCCTC
CTACCTGCTAAAGCCCATCCAGCGCATGGGCAAGTACGCACTGCTGCTGCAGGAGCTGGCACGGGCCTGCGGGGGCCCCACGCAGGAGCT
CAGTGCGCTGCGGGAGGCCCAGAGCCTTGTGCACTTCCAGCTGCGGCACGGAAACGACCTGCTGGCCATGGACGCCATCCAGGGCTGTGA
TGTTAACCTCAAGGAACAGGGGCAGCTGGTGCGACAGGATGAGTTTGTGGTGCGCACTGGGCGCCACAAGTCCGTGCGCCGCATCTTCCT
TTTTGAGGAGCTGCTGCTCTTCAGCAAGCCTCGCCATGGGCCCACAGGGGTTGACACATTTGCCTACAAGCGCTCCTTCAAGATGGCAGA
CCTTGGTCTCACTGAGTGCTGTGGGAACAGCAACCTGCGCTTCGAGATCTGGTTCCGCCGCCGCAAGGCCAGGGACACCTTTGTGCTGCA
GGCCTCCAGCCTGGCTATCAAGCAGGCCTGGACAGCTGACATCTCCCACCTGCTTTGGAGGCAGGCCGTCCACAACAAGGAGGTGCGCAT
GGCTGAGATGGTGTCCATGGGTGTGGGGAACAAGGCCTTCCGAGACATTGCTCCCAGCGAGGAAGCCATCAACGACCGCACCGTCAACTA
TGTCCTGAAGTGCCGAGAAGTTCGCTCTCGGGCGTCCATTGCCGTAGCCCCGTTTGACCATGACAGCCTCTACCTGGGGGCCTCGAACTC
CCTTCCTGGAGACCCTGCCTCTTGCTCTGTTCTGGGGTCCCTCAACCTGCACCTGTACAGAGACCCAGCTCTTCTGGGTCTCCGCTGTCC
CCTGTATCCCAGCTTCCCAGAGGAAGCAGCACTGGAGGCTGAGGCAGAGCTGGGCGGCCAGCCCTCTTTGACTGCTGAGGACTCAGAGAT
CTCGTCCCAATGCCCATCAGCCAGTGGCTCCAGTGGCTCTGACAGCAGCTGTGTGTCAGGGCAGGCCCTGGGTAGGGGCCTGGAGGACTT
ACCCTGTGTCTGAGCCCGGGACTGGACGAGCAGTAGATCCAGCAGCCTGCAGCTCCAAGGAACATTGCCTCTCTGGATCTGCTGTGACCA
GGGTGTGGCTGACACCTGGGCTACCTCCAACCTACATGTGCAACGCTGTTGACTACCCTTTCTGATGTGTGTGGCCATTGGACTAACTGG
CACGGGGCCTCTCTAGGGAAGTCTGGTTGTAGAGCCTGAATAGGCTCCTGGCCCCATGACCCCTTCTCCTGTCCCCAGCTCCCATCCCAG
TTGTGGGTTAAGAATAGGCTAGAGCAGACATTGGGTGTTTCCATGCTGTAGGCTGGTGGGGGACCATGTGCCTCTAGGCAGTGACTAGGG
TGCCCCCACCCCTCAGGAAGAACACAGGTGGGCTCCTAGCAGCTGATCCCCAATGCCTGGCCTTAAAGCCGAGCTCAGTTACCATAGGGA
CAGGTCCACCTCTACTGGGCCCTCATGCTTGCCTTTCCTGGCCCCCAGGCCCAGCCCCTTTTTACTGGGGCAGTTTCGTTATTTTGACTT
GATGCCTTTTGAATAACTTTCAATAGAATTGTCTAAAATTATCTTACTGGTTGTTAGGCCTTTGGTGTCTCAGAGAAGGAGTCTAGGTCT

>13376_13376_1_CBFB-PLEKHG4_CBFB_chr16_67116211_ENST00000412916_PLEKHG4_chr16_67314028_ENST00000360461_length(amino acids)=1329AA_BP=0
MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER
EAGKVYLKAPMILNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRTREFEDRDRSHREEMEFRDAWEEEEPASQMH
VKDPGPPRPPAGATQDEELQGSPLSRKFQLPPAADESGDAQRGTVESSSVLSEGPGPSGVESLLCPMSSHLSLAQGESDTPGVGLVGDPG
PSRAMPSGLSPGALDSDPVGLGDPLSEISKLLEAAPSGSGLPKPADCLLAQDLCWELLASGMATLPGTRDVQGRAVLLLCAHSPAWLQSE
CSSQELIRLLLYLRSIPRPEVQALGLTVLVDARICAPSSSLFSGLSQLQEAAPGAVYQVLLVGSTLLKEVPSGLQLEQLPSQSLLTHIPT
AGLPTSLGGGLPYCHQAWLDFRRRLEALLQNCQAACALLQGAIESVKAVPQPMEPGEVGQLLQQTEVLMQQVLDSPWLAWLQCQGGRELT
WLKQEVPEVTLSPDYRTAMDKADELYDRVDGLLHQLTLQSNQRIQALELVQTLEARESGLHQIEVWLQQVGWPALEEAGEPSLDMLLQAQ
GSFQELYQVAQEQVRQGEKFLQPLTGWEAAELDPPGARFLALRAQLTEFSRALAQRCQRLADAERLFQLFREALTWAEEGQRVLAELEQE
RPGVVLQQLQLHWTRHPDLPPAHFRKMWALATGLGSEAIRQECRWAWARCQDTWLALDQKLEASLKLPPVGSTASLCVSQVPAAPAHPPL
RKAYSFDRNLGQSLSEPACHCHHAATIAACRRPEAGGGALPQASPTVPPPGSSDPRSLNRLQLVLAEMVATEREYVRALEYTMENYFPEL
DRPDVPQGLRGQRAHLFGNLEKLRDFHCHFFLRELEACTRHPPRVAYAFLRHRVQFGMYALYSKNKPRSDALMSSYGHTFFKDKQQALGD
HLDLASYLLKPIQRMGKYALLLQELARACGGPTQELSALREAQSLVHFQLRHGNDLLAMDAIQGCDVNLKEQGQLVRQDEFVVRTGRHKS
VRRIFLFEELLLFSKPRHGPTGVDTFAYKRSFKMADLGLTECCGNSNLRFEIWFRRRKARDTFVLQASSLAIKQAWTADISHLLWRQAVH
NKEVRMAEMVSMGVGNKAFRDIAPSEEAINDRTVNYVLKCREVRSRASIAVAPFDHDSLYLGASNSLPGDPASCSVLGSLNLHLYRDPAL

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>13376_13376_2_CBFB-PLEKHG4_CBFB_chr16_67116211_ENST00000412916_PLEKHG4_chr16_67314028_ENST00000450733_length(transcript)=4601nt_BP=658nt
AGACTCCCCGGAACGGGAGCCCACGCGGGCGGGCGCCTGAAACAAAGGGAAGCGGGCGTCCGGGCGCCGCGGGTGGGCGGTCAGTCGGTC
AGCGCGGAGCCAGCCAGCGGGTGCCCGCGCAAGCCCCGAGCGCGGCCGGCCGGCGCGGCCTCAGGGCGGGAAGATGCCGCGCGTCGTGCC
CGACCAGAGAAGCAAGTTCGAGAACGAGGAGTTTTTTAGGAAGCTGAGCCGCGAGTGTGAGATTAAGTACACGGGCTTCAGGGACCGGCC
CCACGAGGAACGCCAGGCACGCTTCCAGAACGCCTGCCGCGACGGCCGCTCGGAAATCGCTTTTGTGGCCACAGGAACCAATCTGTCTCT
CCAGTTTTTTCCGGCCAGCTGGCAGGGAGAACAGCGACAAACACCTAGCCGAGAGTATGTCGACTTAGAAAGAGAAGCAGGCAAGGTATA
TTTGAAGGCTCCCATGATTCTGAATGGAGTCTGTGTTATCTGGAAAGGCTGGATTGATCTCCAAAGACTGGATGGTATGGGCTGTCTGGA
GTTTGATGAGGAGCGAGCCCAGCAGGAGGATGCATTAGCACAACAGGCCTTTGAAGAGGCTCGGAGAAGGACACGCGAATTTGAAGATAG
AGACAGGTCTCATCGGGAGGAAATGGAGTTCAGGGATGCCTGGGAAGAGGAGGAACCTGCTTCCCAGATGCACGTTAAGGACCCAGGTCC
TCCAAGACCACCAGCCGGGGCCACCCAGGATGAGGAGCTACAGGGCAGCCCCTTGTCCAGGAAATTCCAGTTACCCCCAGCTGCAGATGA
GTCGGGGGATGCCCAGAGGGGCACAGTAGAAAGCTCCTCAGTCCTGTCAGAAGGGCCAGGCCCCTCTGGAGTGGAGAGTCTCCTATGCCC
CATGTCCTCCCACCTCAGCTTGGCACAGGGGACTCGGGATGTCCAAGGCCGGGCAGTGCTGCTTCTGTGTGCCCACAGCCCAGCCTGGCT
TCAGTCTGAGTGCAGCAGCCAGGAACTCATCCGCCTCCTGCTGTACCTGCGAAGCATCCCCAGGCCCGAAGTACAGGCACTGGGACTGAC
AGTGCTAGTTGATGCCCGAATTTGTGCTCCAAGTTCTTCCCTCTTCTCTGGGCTCAGCCAACTACAAGAAGCAGCCCCAGGGGCCGTGTA
CCAGGTGCTGCTAGTGGGAAGCACGCTGCTGAAGGAAGTGCCTTCCGGGCTGCAGCTGGAGCAGTTGCCTTCTCAGAGCCTGCTGACCCA
CATCCCAACGGCGGGGCTGCCCACTTCGCTAGGAGGAGGCCTGCCTTACTGCCACCAGGCCTGGCTGGATTTCCGAAGGCGGCTGGAAGC
TCTACTACAGAACTGCCAGGCAGCTTGTGCCCTGCTCCAGGGGGCCATCGAAAGTGTGAAGGCTGTGCCCCAGCCCATGGAGCCTGGGGA
GGTCGGTCAGCTGCTACAGCAGACAGAGGTCCTGATGCAGCAGGTGCTAGACTCGCCATGGCTGGCATGGCTACAATGCCAGGGGGGCCG
GGAGCTGACATGGCTGAAGCAAGAGGTCCCAGAGGTGACCCTGAGCCCAGACTACAGGACGGCAATGGACAAGGCTGACGAGCTATATGA
CCGGGTGGATGGATTGCTGCACCAACTGACCCTGCAGAGCAACCAGCGAATACAGGCCCTAGAGTTGGTCCAAACACTGGAGGCCCGGGA
AAGCGGACTGCACCAGATTGAAGTGTGGCTGCAGCAGGTGGGCTGGCCAGCACTGGAGGAGGCTGGGGAGCCCTCGCTGGACATGCTGCT
CCAGGCCCAAGGCTCTTTTCAGGAGCTGTACCAGGTTGCCCAGGAGCAGGTCAGGCAAGGGGAGAAGTTTCTGCAGCCGCTGACTGGCTG
GGAGGCGGCTGAACTGGACCCCCCTGGGGCACGCTTTCTGGCCCTGCGAGCCCAGCTGACTGAATTCTCTAGGGCTTTGGCCCAGCGGTG
CCAGCGGCTGGCGGATGCTGAGAGGCTGTTTCAGCTCTTCAGGGAGGCCTTGACGTGGGCTGAGGAGGGGCAGCGAGTGTTGGCAGAGCT
GGAGCAGGAACGCCCGGGGGTTGTGTTGCAGCAGCTGCAGCTGCACTGGACCAGGCACCCTGACTTGCCTCCTGCCCACTTCCGAAAGAT
GTGGGCTCTGGCCACGGGGCTGGGCTCAGAGGCCATCCGCCAGGAGTGCCGCTGGGCCTGGGCGCGGTGCCAGGACACCTGGCTGGCCCT
GGACCAAAAGCTTGAGGCTTCACTGAAGCTACCACCGGTGGGCAGCACAGCTAGCCTGTGTGTCAGCCAGGTCCCCGCTGCACCTGCCCA
CCCTCCCCTGAGGAAGGCCTACAGCTTCGATCGGAATCTGGGGCAGAGTCTCAGTGAACCTGCCTGCCACTGCCACCATGCGGCCACTAT
TGCTGCCTGCCGCAGACCAGAGGCTGGAGGAGGTGCCCTGCCCCAGGCATCCCCTACTGTGCCTCCACCAGGCAGCTCTGACCCCAGGAG
CCTCAACAGGCTACAGCTGGTGCTGGCAGAGATGGTGGCCACGGAGCGGGAGTATGTCCGGGCTCTAGAGTACACTATGGAGAACTATTT
CCCCGAGCTGGATCGCCCCGATGTGCCCCAGGGCCTCCGCGGTCAGCGTGCCCACCTCTTTGGCAACCTGGAGAAGCTGCGGGACTTCCA
CTGCCACTTCTTCCTGCGTGAGCTGGAGGCTTGCACCCGGCACCCACCACGAGTGGCCTATGCCTTCCTGCGCCATAGGGTGCAGTTTGG
GATGTACGCGCTCTACAGCAAGAATAAGCCTCGCTCCGATGCCCTGATGTCAAGCTATGGGCACACCTTCTTCAAGGACAAGCAGCAAGC
ACTGGGGGACCACCTGGACCTGGCCTCCTACCTGCTAAAGCCCATCCAGCGCATGGGCAAGTACGCACTGCTGCTGCAGGAGCTGGCACG
GGCCTGCGGGGGCCCCACGCAGGAGCTCAGTGCGCTGCGGGAGGCCCAGAGCCTTGTGCACTTCCAGCTGCGGCACGGAAACGACCTGCT
GGCCATGGACGCCATCCAGGGCTGTGATGTTAACCTCAAGGAACAGGGGCAGCTGGTGCGACAGGATGAGTTTGTGGTGCGCACTGGGCG
CCACAAGTCCGTGCGCCGCATCTTCCTTTTTGAGGAGCTGCTGCTCTTCAGCAAGCCTCGCCATGGGCCCACAGGGGTTGACACATTTGC
CTACAAGCGCTCCTTCAAGATGGCAGACCTTGGTCTCACTGAGTGCTGTGGGAACAGCAACCTGCGCTTCGAGATCTGGTTCCGCCGCCG
CAAGGCCAGGGACACCTTTGTGCTGCAGGCCTCCAGCCTGGCTATCAAGCAGGCCTGGACAGCTGACATCTCCCACCTGCTTTGGAGGCA
GGCCGTCCACAACAAGGAGGTGCGCATGGCTGAGATGGTGTCCATGGGTGTGGGGAACAAGGCCTTCCGAGACATTGCTCCCAGCGAGGA
AGCCATCAACGACCGCACCGTCAACTATGTCCTGAAGTGCCGAGAAGTTCGCTCTCGGGCGTCCATTGCCGTAGCCCCGTTTGACCATGA
CAGCCTCTACCTGGGGGCCTCGAACTCCCTTCCTGGAGACCCTGCCTCTTGCTCTGTTCTGGGGTCCCTCAACCTGCACCTGTACAGAGA
CCCAGCTCTTCTGGGTCTCCGCTGTCCCCTGTATCCCAGCTTCCCAGAGGAAGCAGCACTGGAGGCTGAGGCAGAGCTGGGCGGCCAGCC
CTCTTTGACTGCTGAGGACTCAGAGATCTCGTCCCAATGCCCATCAGCCAGTGGCTCCAGTGGCTCTGACAGCAGCTGTGTGTCAGGGCA
GGCCCTGGGTAGGGGCCTGGAGGACTTACCCTGTGTCTGAGCCCGGGACTGGACGAGCAGTAGATCCAGCAGCCTGCAGCTCCAAGGAAC
ATTGCCTCTCTGGATCTGCTGTGACCAGGGTGTGGCTGACACCTGGGCTACCTCCAACCTACATGTGCAACGCTGTTGACTACCCTTTCT
GATGTGTGTGGCCATTGGACTAACTGGCACGGGGCCTCTCTAGGGAAGTCTGGTTGTAGAGCCTGAATAGGCTCCTGGCCCCATGACCCC
TTCTCCTGTCCCCAGCTCCCATCCCAGTTGTGGGTTAAGAATAGGCTAGAGCAGACATTGGGTGTTTCCATGCTGTAGGCTGGTGGGGGA
CCATGTGCCTCTAGGCAGTGACTAGGGTGCCCCCACCCCTCAGGAAGAACACAGGTGGGCTCCTAGCAGCTGATCCCCAATGCCTGGCCT
TAAAGCCGAGCTCAGTTACCATAGGGACAGGTCCACCTCTACTGGGCCCTCATGCTTGCCTTTCCTGGCCCCCAGGCCCAGCCCCTTTTT
ACTGGGGCAGTTTCGTTATTTTGACTTGATGCCTTTTGAATAACTTTCAATAGAATTGTCTAAAATTATCTTACTGGTTGTTAGGCCTTT
GGTGTCTCAGAGAAGGAGTCTAGGTCTTTGATGTGTGATTTAATCTTTTATTTGTTTATAATAAAAAATAGACTGATATGTACCCTCTGA

>13376_13376_2_CBFB-PLEKHG4_CBFB_chr16_67116211_ENST00000412916_PLEKHG4_chr16_67314028_ENST00000450733_length(amino acids)=1248AA_BP=0
MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER
EAGKVYLKAPMILNGVCVIWKGWIDLQRLDGMGCLEFDEERAQQEDALAQQAFEEARRRTREFEDRDRSHREEMEFRDAWEEEEPASQMH
VKDPGPPRPPAGATQDEELQGSPLSRKFQLPPAADESGDAQRGTVESSSVLSEGPGPSGVESLLCPMSSHLSLAQGTRDVQGRAVLLLCA
HSPAWLQSECSSQELIRLLLYLRSIPRPEVQALGLTVLVDARICAPSSSLFSGLSQLQEAAPGAVYQVLLVGSTLLKEVPSGLQLEQLPS
QSLLTHIPTAGLPTSLGGGLPYCHQAWLDFRRRLEALLQNCQAACALLQGAIESVKAVPQPMEPGEVGQLLQQTEVLMQQVLDSPWLAWL
QCQGGRELTWLKQEVPEVTLSPDYRTAMDKADELYDRVDGLLHQLTLQSNQRIQALELVQTLEARESGLHQIEVWLQQVGWPALEEAGEP
SLDMLLQAQGSFQELYQVAQEQVRQGEKFLQPLTGWEAAELDPPGARFLALRAQLTEFSRALAQRCQRLADAERLFQLFREALTWAEEGQ
RVLAELEQERPGVVLQQLQLHWTRHPDLPPAHFRKMWALATGLGSEAIRQECRWAWARCQDTWLALDQKLEASLKLPPVGSTASLCVSQV
PAAPAHPPLRKAYSFDRNLGQSLSEPACHCHHAATIAACRRPEAGGGALPQASPTVPPPGSSDPRSLNRLQLVLAEMVATEREYVRALEY
TMENYFPELDRPDVPQGLRGQRAHLFGNLEKLRDFHCHFFLRELEACTRHPPRVAYAFLRHRVQFGMYALYSKNKPRSDALMSSYGHTFF
KDKQQALGDHLDLASYLLKPIQRMGKYALLLQELARACGGPTQELSALREAQSLVHFQLRHGNDLLAMDAIQGCDVNLKEQGQLVRQDEF
VVRTGRHKSVRRIFLFEELLLFSKPRHGPTGVDTFAYKRSFKMADLGLTECCGNSNLRFEIWFRRRKARDTFVLQASSLAIKQAWTADIS
HLLWRQAVHNKEVRMAEMVSMGVGNKAFRDIAPSEEAINDRTVNYVLKCREVRSRASIAVAPFDHDSLYLGASNSLPGDPASCSVLGSLN

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Fusion Gene PPI Analysis for CBFB-PLEKHG4


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-PLEKHG4


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-PLEKHG4


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
TgeneC0752122Spinocerebellar Ataxia Type 42ORPHANET