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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:BUB1B-EIF2AK4 (FusionGDB2 ID:10570)

Fusion Gene Summary for BUB1B-EIF2AK4

check button Fusion gene summary
Fusion gene informationFusion gene name: BUB1B-EIF2AK4
Fusion gene ID: 10570
HgeneTgene
Gene symbol

BUB1B

EIF2AK4

Gene ID

701

440275

Gene nameBUB1 mitotic checkpoint serine/threonine kinase Beukaryotic translation initiation factor 2 alpha kinase 4
SynonymsBUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1GCN2|PVOD2
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionmitotic checkpoint serine/threonine-protein kinase BUB1 betaBUB1B, mitotic checkpoint serine/threonine kinaseMAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3LeIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2
Modification date2020031320200313
UniProtAcc

O60566

Q9P2K8

Ensembl transtripts involved in fusion geneENST00000560120, ENST00000287598, 
ENST00000412359, 		ENST00000263791, 
ENST00000382727, ENST00000559311, 
ENST00000559624, ENST00000560648, 
Fusion gene scores* DoF score5 X 6 X 5=1506 X 13 X 5=390
# samples 1213
** MAII scorelog2(12/150*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/390*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BUB1B [Title/Abstract] AND EIF2AK4 [Title/Abstract] AND fusion [Title/Abstract]

Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers (pmid: 27856756)
Most frequent breakpointEIF2AK4(40309443)-BUB1B(40504700), # samples:2
EIF2AK4(40309443)-BUB1B(40504699), # samples:2
BUB1B(40453456)-EIF2AK4(40314720), # samples:2
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 buttonFusion gene breakpoints across BUB1B (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 EIF2AK4 (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
ChimerDB4BRCATCGA-AO-A128-01ABUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
ChimerDB4BRCATCGA-D8-A1XT-01ABUB1Bchr15

40453456

-EIF2AK4chr15

40314720

+
ChimerDB4BRCATCGA-D8-A1XT-01ABUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
ChimerDB4BRCATCGA-OL-A66I-01ABUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
ChimerDB4OVTCGA-36-1575-01ABUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
ChimerDB4OVTCGA-36-1575BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
ChimerDB4UCSTCGA-N8-A56S-01ABUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+


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Fusion Gene ORF analysis for BUB1B-EIF2AK4

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-intronENST00000560120ENST00000263791BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
3UTR-intronENST00000560120ENST00000263791BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
3UTR-intronENST00000560120ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
3UTR-intronENST00000560120ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
3UTR-intronENST00000560120ENST00000382727BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
3UTR-intronENST00000560120ENST00000382727BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
3UTR-intronENST00000560120ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
3UTR-intronENST00000560120ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
3UTR-intronENST00000560120ENST00000559311BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
3UTR-intronENST00000560120ENST00000559311BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
3UTR-intronENST00000560120ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
3UTR-intronENST00000560120ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
3UTR-intronENST00000560120ENST00000559624BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
3UTR-intronENST00000560120ENST00000559624BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
3UTR-intronENST00000560120ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
3UTR-intronENST00000560120ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
3UTR-intronENST00000560120ENST00000560648BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
3UTR-intronENST00000560120ENST00000560648BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
3UTR-intronENST00000560120ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
3UTR-intronENST00000560120ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000263791BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000382727BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000559311BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000559624BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000287598ENST00000560648BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000412359ENST00000263791BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000412359ENST00000382727BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000412359ENST00000559311BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000412359ENST00000559624BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40453456

+EIF2AK4chr15

40314720

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40453456

-EIF2AK4chr15

40321607

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284376

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40462882

+EIF2AK4chr15

40284375

+
5CDS-intronENST00000412359ENST00000560648BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000263791BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000263791BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000382727BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000382727BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000559311BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000559311BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000559624BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000559624BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+
intron-intronENST00000560120ENST00000560648BUB1Bchr15

40468874

-EIF2AK4chr15

40301815

+
intron-intronENST00000560120ENST00000560648BUB1Bchr15

40510763

-EIF2AK4chr15

40278006

+

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 BUB1B-EIF2AK4


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)
BUB1Bchr1540462882+EIF2AK4chr1540284375+0.0053699930.99463
BUB1Bchr1540462882+EIF2AK4chr1540284375+0.0053699930.99463
BUB1Bchr1540453456+EIF2AK4chr1540314719+4.75E-050.99995244
BUB1Bchr1540462882+EIF2AK4chr1540284375+0.0053699930.99463
BUB1Bchr1540462882+EIF2AK4chr1540284375+0.0053699930.99463
BUB1Bchr1540453456+EIF2AK4chr1540314719+4.75E-050.99995244

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.
genomic feature of top 1%

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Fusion Protein Features for BUB1B-EIF2AK4


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/:40309443/:40504700)
- 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
BUB1B

O60566

EIF2AK4

Q9P2K8

FUNCTION: Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression. {ECO:0000269|PubMed:10477750, ECO:0000269|PubMed:11702782, ECO:0000269|PubMed:14706340, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:19411850, ECO:0000269|PubMed:19503101}.FUNCTION: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adaptation to amino acid starvation (By similarity). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, and thus to a reduced overall utilization of amino acids, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion (By similarity). Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory (By similarity). Plays a role in neurite outgrowth inhibition (By similarity). Plays a proapoptotic role in response to glucose deprivation (By similarity). Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity). {ECO:0000250|UniProtKB:P15442, ECO:0000250|UniProtKB:Q9QZ05, ECO:0000269|PubMed:25329545, ECO:0000269|PubMed:26102367}.; FUNCTION: (Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610). {ECO:0000269|PubMed:24310610}.

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 BUB1B-EIF2AK4


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 BUB1B-EIF2AK4


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 BUB1B-EIF2AK4


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 BUB1B-EIF2AK4


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