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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:NUCB1-BAX (FusionGDB2 ID:60754)

Fusion Gene Summary for NUCB1-BAX

check button Fusion gene summary
Fusion gene informationFusion gene name: NUCB1-BAX
Fusion gene ID: 60754
HgeneTgene
Gene symbol

NUCB1

BAX

Gene ID

4924

581

Gene namenucleobindin 1BCL2 associated X, apoptosis regulator
SynonymsCALNUC|NUCBCL2L4
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionnucleobindin-1apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4
Modification date2020031320200322
UniProtAcc.

TMBIM6

Ensembl transtripts involved in fusion geneENST00000485798, ENST00000263273, 
ENST00000405315, ENST00000407032, 
ENST00000345358, ENST00000539787, 
ENST00000293288, ENST00000354470, 
ENST00000391871, ENST00000415969, 
Fusion gene scores* DoF score9 X 11 X 6=5944 X 3 X 3=36
# samples 146
** MAII scorelog2(14/594*10)=-2.0850361038558
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NUCB1 [Title/Abstract] AND BAX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNUCB1(49404188)-BAX(49464066), # samples:2
Anticipated loss of major functional domain due to fusion event.NUCB1-BAX seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NUCB1-BAX seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
NUCB1-BAX seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneBAX

GO:0001783

B cell apoptotic process

15214043|16424160

TgeneBAX

GO:0001836

release of cytochrome c from mitochondria

9843949|16199525|17052454

TgeneBAX

GO:0006915

apoptotic process

9660918

TgeneBAX

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

11912183

TgeneBAX

GO:0008053

mitochondrial fusion

14769861

TgeneBAX

GO:0008635

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

15214043

TgeneBAX

GO:0008637

apoptotic mitochondrial changes

9843949

TgeneBAX

GO:0009636

response to toxic substance

16307838

TgeneBAX

GO:0010248

establishment or maintenance of transmembrane electrochemical gradient

9843949

TgeneBAX

GO:0010917

negative regulation of mitochondrial membrane potential

16751333

TgeneBAX

GO:0031334

positive regulation of protein complex assembly

9111042|19805544

TgeneBAX

GO:0032091

negative regulation of protein binding

9388232

TgeneBAX

GO:0032976

release of matrix enzymes from mitochondria

9843949

TgeneBAX

GO:0043065

positive regulation of apoptotic process

16751333|17464193

TgeneBAX

GO:0043525

positive regulation of neuron apoptotic process

15637643

TgeneBAX

GO:0043653

mitochondrial fragmentation involved in apoptotic process

12499352

TgeneBAX

GO:0051881

regulation of mitochondrial membrane potential

9843949

TgeneBAX

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

TgeneBAX

GO:0097190

apoptotic signaling pathway

16424160

TgeneBAX

GO:0097191

extrinsic apoptotic signaling pathway

15214043

TgeneBAX

GO:0097193

intrinsic apoptotic signaling pathway

9219694|16462759

TgeneBAX

GO:1990117

B cell receptor apoptotic signaling pathway

15214043


check buttonFusion gene breakpoints across NUCB1 (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 BAX (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 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
ChimerDB4OVTCGA-13-0726NUCB1chr19

49403629

+BAXchr19

49459454

+
ChimerDB4PRADTCGA-HC-A76WNUCB1chr19

49404188

+BAXchr19

49464066

+


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Fusion Gene ORF analysis for NUCB1-BAX

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-3CDSENST00000485798ENST00000345358NUCB1chr19

49403629

+BAXchr19

49459454

+
3UTR-3CDSENST00000485798ENST00000539787NUCB1chr19

49403629

+BAXchr19

49459454

+
3UTR-3UTRENST00000485798ENST00000293288NUCB1chr19

49403629

+BAXchr19

49459454

+
3UTR-3UTRENST00000485798ENST00000354470NUCB1chr19

49403629

+BAXchr19

49459454

+
3UTR-3UTRENST00000485798ENST00000391871NUCB1chr19

49403629

+BAXchr19

49459454

+
3UTR-3UTRENST00000485798ENST00000415969NUCB1chr19

49403629

+BAXchr19

49459454

+
5CDS-3UTRENST00000263273ENST00000293288NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000263273ENST00000354470NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000263273ENST00000391871NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000263273ENST00000415969NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000405315ENST00000293288NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000405315ENST00000354470NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000405315ENST00000391871NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000405315ENST00000415969NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000407032ENST00000293288NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000407032ENST00000354470NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000407032ENST00000391871NUCB1chr19

49404188

+BAXchr19

49464066

+
5CDS-3UTRENST00000407032ENST00000415969NUCB1chr19

49404188

+BAXchr19

49464066

+
5UTR-3CDSENST00000405315ENST00000345358NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3CDSENST00000405315ENST00000539787NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3CDSENST00000407032ENST00000345358NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3CDSENST00000407032ENST00000539787NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000405315ENST00000293288NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000405315ENST00000354470NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000405315ENST00000391871NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000405315ENST00000415969NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000407032ENST00000293288NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000407032ENST00000354470NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000407032ENST00000391871NUCB1chr19

49403629

+BAXchr19

49459454

+
5UTR-3UTRENST00000407032ENST00000415969NUCB1chr19

49403629

+BAXchr19

49459454

+
Frame-shiftENST00000263273ENST00000539787NUCB1chr19

49404188

+BAXchr19

49464066

+
Frame-shiftENST00000405315ENST00000539787NUCB1chr19

49404188

+BAXchr19

49464066

+
Frame-shiftENST00000407032ENST00000539787NUCB1chr19

49404188

+BAXchr19

49464066

+
In-frameENST00000263273ENST00000345358NUCB1chr19

49404188

+BAXchr19

49464066

+
In-frameENST00000405315ENST00000345358NUCB1chr19

49404188

+BAXchr19

49464066

+
In-frameENST00000407032ENST00000345358NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3CDSENST00000263273ENST00000345358NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3CDSENST00000263273ENST00000539787NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3CDSENST00000485798ENST00000345358NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3CDSENST00000485798ENST00000539787NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3UTRENST00000263273ENST00000293288NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3UTRENST00000263273ENST00000354470NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3UTRENST00000263273ENST00000391871NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3UTRENST00000263273ENST00000415969NUCB1chr19

49403629

+BAXchr19

49459454

+
intron-3UTRENST00000485798ENST00000293288NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3UTRENST00000485798ENST00000354470NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3UTRENST00000485798ENST00000391871NUCB1chr19

49404188

+BAXchr19

49464066

+
intron-3UTRENST00000485798ENST00000415969NUCB1chr19

49404188

+BAXchr19

49464066

+

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 NUCB1-BAX


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)
NUCB1chr1949403629+BAXchr1949459454+0.0141942940.9858057
NUCB1chr1949404188+BAXchr1949464066+2.73E-091
NUCB1chr1949403629+BAXchr1949459454+0.0141942940.9858057
NUCB1chr1949404188+BAXchr1949464066+2.73E-091

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

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 NUCB1-BAX


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/chr19:49404188/chr19:49464066)
- 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
.BAX

TMBIM6

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}.237

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
TgeneBAXchr19:49404188chr19:49464066ENST0000029328835150_165123219.0MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST0000034535836150_165123193.0MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST0000035447025150_16574144.0MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST000003544702598_11874144.0MotifNote=BH1
TgeneBAXchr19:49404188chr19:49464066ENST0000039187125150_16510588.33333333333333MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST0000041596936150_165123180.0MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST0000029328835172_192123219.0TransmembraneHelical
TgeneBAXchr19:49404188chr19:49464066ENST0000034535836172_192123193.0TransmembraneHelical
TgeneBAXchr19:49404188chr19:49464066ENST0000035447025172_19274144.0TransmembraneHelical
TgeneBAXchr19:49404188chr19:49464066ENST0000039187125172_19210588.33333333333333TransmembraneHelical
TgeneBAXchr19:49404188chr19:49464066ENST0000041596936172_192123180.0TransmembraneHelical
TgeneBAXchr19:49404188chr19:49464066ENST0000053978747172_192155205.66666666666666TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112253_26445462.0Calcium binding1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112305_31645462.0Calcium binding2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213253_26445462.0Calcium binding1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213305_31645462.0Calcium binding2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214253_26445666.6666666666666Calcium binding1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214305_31645666.6666666666666Calcium binding2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112150_21845462.0Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112341_40745462.0Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213150_21845462.0Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213341_40745462.0Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214150_21845666.6666666666666Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214341_40745666.6666666666666Coiled coilOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112401_40745462.0Compositional biasNote=Poly-Gln
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213401_40745462.0Compositional biasNote=Poly-Gln
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214401_40745666.6666666666666Compositional biasNote=Poly-Gln
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112172_21845462.0DNA bindingOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213172_21845462.0DNA bindingOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214172_21845666.6666666666666DNA bindingOntology_term=ECO:0000255
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112240_27545462.0DomainEF-hand 1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112292_32745462.0DomainEF-hand 2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213240_27545462.0DomainEF-hand 1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213292_32745462.0DomainEF-hand 2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214240_27545666.6666666666666DomainEF-hand 1
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214292_32745666.6666666666666DomainEF-hand 2
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112303_33345462.0MotifGBA
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213303_33345462.0MotifGBA
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214303_33345666.6666666666666MotifGBA
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+112228_32145462.0RegionBinds to GNAI2 and GNAI3
HgeneNUCB1chr19:49404188chr19:49464066ENST00000263273+11242_5145462.0RegionNote=O-glycosylated at one site
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+213228_32145462.0RegionBinds to GNAI2 and GNAI3
HgeneNUCB1chr19:49404188chr19:49464066ENST00000405315+21342_5145462.0RegionNote=O-glycosylated at one site
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+214228_32145666.6666666666666RegionBinds to GNAI2 and GNAI3
HgeneNUCB1chr19:49404188chr19:49464066ENST00000407032+21442_5145666.6666666666666RegionNote=O-glycosylated at one site
TgeneBAXchr19:49404188chr19:49464066ENST000002932883559_73123219.0MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000002932883598_118123219.0MotifNote=BH1
TgeneBAXchr19:49404188chr19:49464066ENST000003453583659_73123193.0MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000003453583698_118123193.0MotifNote=BH1
TgeneBAXchr19:49404188chr19:49464066ENST000003544702559_7374144.0MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000003918712559_7310588.33333333333333MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000003918712598_11810588.33333333333333MotifNote=BH1
TgeneBAXchr19:49404188chr19:49464066ENST000004159693659_73123180.0MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000004159693698_118123180.0MotifNote=BH1
TgeneBAXchr19:49404188chr19:49464066ENST0000053978747150_165155205.66666666666666MotifNote=BH2
TgeneBAXchr19:49404188chr19:49464066ENST000005397874759_73155205.66666666666666MotifNote=BH3
TgeneBAXchr19:49404188chr19:49464066ENST000005397874798_118155205.66666666666666MotifNote=BH1


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Fusion Gene Sequence for NUCB1-BAX


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 NUCB1-BAX


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 NUCB1-BAX


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 NUCB1-BAX


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