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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BRE-PRKCE

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BRE-PRKCE
FusionPDB ID: 10242
FusionGDB2.0 ID: 10242
HgeneTgene
Gene symbol

BRE

PRKCE

Gene ID

9577

5581

Gene nameBRISC and BRCA1 A complex member 2protein kinase C epsilon
SynonymsBRCC4|BRCC45|BREPKCE|nPKC-epsilon
Cytomap

2p23.2

2p21

Type of geneprotein-codingprotein-coding
DescriptionBRISC and BRCA1-A complex member 2BRCA1-A complex subunit BREBRCA1/BRCA2-containing complex subunit 45BRCA1/BRCA2-containing complex, subunit 4brain and reproductive organ-expressed (TNFRSF1A modulator)brain and reproductive organ-expressed proteinprotein kinase C epsilon type
Modification date2020031320200327
UniProtAcc.

Q02156

Ensembl transtripts involved in fusion geneENST idsENST00000342045, ENST00000344773, 
ENST00000361704, ENST00000379624, 
ENST00000379632, ENST00000603461, 
ENST00000394874, ENST00000467135, 
ENST00000306156, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 9 X 8=93611 X 12 X 7=924
# samples 1512
** MAII scorelog2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/924*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BRE [Title/Abstract] AND PRKCE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BRE(28268666)-PRKCE(46313347), # samples:3
Anticipated loss of major functional domain due to fusion event.BRE-PRKCE 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.
BRE-PRKCE 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.
BRE-PRKCE 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.
BRE-PRKCE 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.
* 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
HgeneBRE

GO:0043066

negative regulation of apoptotic process

15465831

TgenePRKCE

GO:0006468

protein phosphorylation

18556656

TgenePRKCE

GO:0018105

peptidyl-serine phosphorylation

15695813


check buttonFusion gene breakpoints across BRE (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 PRKCE (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-C8-A134-01ABREchr2

28268666

-PRKCEchr2

46313347

+
ChimerDB4BRCATCGA-C8-A134-01ABREchr2

28268666

+PRKCEchr2

46313347

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000344773BREchr228268666+ENST00000306156PRKCEchr246313347+45947081381484448
ENST00000379624BREchr228268666+ENST00000306156PRKCEchr246313347+45736871171463448
ENST00000342045BREchr228268666+ENST00000306156PRKCEchr246313347+45977111411487448
ENST00000379632BREchr228268666+ENST00000306156PRKCEchr246313347+45967101401486448
ENST00000361704BREchr228268666+ENST00000306156PRKCEchr246313347+4530644741420448

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
ENST00000344773ENST00000306156BREchr228268666+PRKCEchr246313347+0.0002230380.999777
ENST00000379624ENST00000306156BREchr228268666+PRKCEchr246313347+0.0002163160.9997837
ENST00000342045ENST00000306156BREchr228268666+PRKCEchr246313347+0.0002072630.99979275
ENST00000379632ENST00000306156BREchr228268666+PRKCEchr246313347+0.0002072360.99979275
ENST00000361704ENST00000306156BREchr228268666+PRKCEchr246313347+0.0002180690.9997819

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>10242_10242_1_BRE-PRKCE_BRE_chr2_28268666_ENST00000342045_PRKCE_chr2_46313347_ENST00000306156_length(amino acids)=448AA_BP=190
MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDA
EFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQHGVIYRDLKLDNILLDAEGHCKLADFGMCKEGIL
NGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKR

--------------------------------------------------------------

>10242_10242_2_BRE-PRKCE_BRE_chr2_28268666_ENST00000344773_PRKCE_chr2_46313347_ENST00000306156_length(amino acids)=448AA_BP=190
MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDA
EFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQHGVIYRDLKLDNILLDAEGHCKLADFGMCKEGIL
NGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKR

--------------------------------------------------------------

>10242_10242_3_BRE-PRKCE_BRE_chr2_28268666_ENST00000361704_PRKCE_chr2_46313347_ENST00000306156_length(amino acids)=448AA_BP=190
MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDA
EFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQHGVIYRDLKLDNILLDAEGHCKLADFGMCKEGIL
NGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKR

--------------------------------------------------------------

>10242_10242_4_BRE-PRKCE_BRE_chr2_28268666_ENST00000379624_PRKCE_chr2_46313347_ENST00000306156_length(amino acids)=448AA_BP=190
MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDA
EFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQHGVIYRDLKLDNILLDAEGHCKLADFGMCKEGIL
NGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKR

--------------------------------------------------------------

>10242_10242_5_BRE-PRKCE_BRE_chr2_28268666_ENST00000379632_PRKCE_chr2_46313347_ENST00000306156_length(amino acids)=448AA_BP=190
MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNAQYPELPPDFIFGEDA
EFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQYGENMEIYAGKKNNWTGEFSARFLLKLPVD
FSNIPTYLLKDRLFFVMEYVNGGDLMFQIQRSRKFDEPRSRFYAAEVTSALMFLHQHGVIYRDLKLDNILLDAEGHCKLADFGMCKEGIL
NGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKR

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr2:28268666/chr2:46313347)
- 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
.PRKCE

Q02156

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. In HeLa cells, contributes to hepatocyte growth factor (HGF)-induced cell migration, and in human corneal epithelial cells, plays a critical role in wound healing after activation by HGF. During cytokinesis, forms a complex with YWHAB, which is crucial for daughter cell separation, and facilitates abscission by a mechanism which may implicate the regulation of RHOA. In cardiac myocytes, regulates myofilament function and excitation coupling at the Z-lines, where it is indirectly associated with F-actin via interaction with COPB1. During endothelin-induced cardiomyocyte hypertrophy, mediates activation of PTK2/FAK, which is critical for cardiomyocyte survival and regulation of sarcomere length. Plays a role in the pathogenesis of dilated cardiomyopathy via persistent phosphorylation of troponin I (TNNI3). Involved in nerve growth factor (NFG)-induced neurite outgrowth and neuron morphological change independently of its kinase activity, by inhibition of RHOA pathway, activation of CDC42 and cytoskeletal rearrangement. May be involved in presynaptic facilitation by mediating phorbol ester-induced synaptic potentiation. Phosphorylates gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2), which reduces the response of GABA receptors to ethanol and benzodiazepines and may mediate acute tolerance to the intoxicating effects of ethanol. Upon PMA treatment, phosphorylates the capsaicin- and heat-activated cation channel TRPV1, which is required for bradykinin-induced sensitization of the heat response in nociceptive neurons. Is able to form a complex with PDLIM5 and N-type calcium channel, and may enhance channel activities and potentiates fast synaptic transmission by phosphorylating the pore-forming alpha subunit CACNA1B (CaV2.2). In prostate cancer cells, interacts with and phosphorylates STAT3, which increases DNA-binding and transcriptional activity of STAT3 and seems to be essential for prostate cancer cell invasion. Downstream of TLR4, plays an important role in the lipopolysaccharide (LPS)-induced immune response by phosphorylating and activating TICAM2/TRAM, which in turn activates the transcription factor IRF3 and subsequent cytokines production. In differentiating erythroid progenitors, is regulated by EPO and controls the protection against the TNFSF10/TRAIL-mediated apoptosis, via BCL2. May be involved in the regulation of the insulin-induced phosphorylation and activation of AKT1. Phosphorylates NLRP5/MATER and may thereby modulate AKT pathway activation in cumulus cells (PubMed:19542546). {ECO:0000269|PubMed:11884385, ECO:0000269|PubMed:1374067, ECO:0000269|PubMed:15355962, ECO:0000269|PubMed:16757566, ECO:0000269|PubMed:17603037, ECO:0000269|PubMed:17875639, ECO:0000269|PubMed:17875724, ECO:0000269|PubMed:19542546}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBREchr2:28268666chr2:46313347ENST00000342045+71330_147190.0384.0RegionNote=UEV-like 1
HgeneBREchr2:28268666chr2:46313347ENST00000344773+61330_147190.0528.6666666666666RegionNote=UEV-like 1
HgeneBREchr2:28268666chr2:46313347ENST00000361704+61330_147190.0511.0RegionNote=UEV-like 1
HgeneBREchr2:28268666chr2:46313347ENST00000379624+61230_147190.0384.0RegionNote=UEV-like 1
HgeneBREchr2:28268666chr2:46313347ENST00000379632+71430_147190.0511.0RegionNote=UEV-like 1
TgenePRKCEchr2:28268666chr2:46313347ENST00000306156915669_737479.0738.0DomainAGC-kinase C-terminal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBREchr2:28268666chr2:46313347ENST00000342045+713275_364190.0384.0RegionNote=UEV-like 2
HgeneBREchr2:28268666chr2:46313347ENST00000344773+613275_364190.0528.6666666666666RegionNote=UEV-like 2
HgeneBREchr2:28268666chr2:46313347ENST00000361704+613275_364190.0511.0RegionNote=UEV-like 2
HgeneBREchr2:28268666chr2:46313347ENST00000379624+612275_364190.0384.0RegionNote=UEV-like 2
HgeneBREchr2:28268666chr2:46313347ENST00000379632+714275_364190.0511.0RegionNote=UEV-like 2
TgenePRKCEchr2:28268666chr2:46313347ENST000003061569151_117479.0738.0DomainC2
TgenePRKCEchr2:28268666chr2:46313347ENST00000306156915408_668479.0738.0DomainProtein kinase
TgenePRKCEchr2:28268666chr2:46313347ENST00000306156915414_422479.0738.0Nucleotide bindingATP
TgenePRKCEchr2:28268666chr2:46313347ENST00000306156915169_220479.0738.0Zinc fingerPhorbol-ester/DAG-type 1
TgenePRKCEchr2:28268666chr2:46313347ENST00000306156915242_292479.0738.0Zinc fingerPhorbol-ester/DAG-type 2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
BRE
PRKCEall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to BRE-PRKCE


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to BRE-PRKCE


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKCEC0020429Hyperalgesia3CTD_human
TgenePRKCEC0458247Allodynia3CTD_human
TgenePRKCEC0751211Hyperalgesia, Primary3CTD_human
TgenePRKCEC0751212Hyperalgesia, Secondary3CTD_human
TgenePRKCEC0751213Tactile Allodynia3CTD_human
TgenePRKCEC0751214Hyperalgesia, Thermal3CTD_human
TgenePRKCEC2936719Mechanical Allodynia3CTD_human
TgenePRKCEC0002152Alloxan Diabetes1CTD_human
TgenePRKCEC0009402Colorectal Carcinoma1CTD_human;UNIPROT
TgenePRKCEC0009404Colorectal Neoplasms1CTD_human
TgenePRKCEC0011853Diabetes Mellitus, Experimental1CTD_human
TgenePRKCEC0011881Diabetic Nephropathy1CTD_human
TgenePRKCEC0013146Drug abuse1CTD_human
TgenePRKCEC0013170Drug habituation1CTD_human
TgenePRKCEC0013222Drug Use Disorders1CTD_human
TgenePRKCEC0017667Nodular glomerulosclerosis1CTD_human
TgenePRKCEC0023903Liver neoplasms1CTD_human
TgenePRKCEC0027051Myocardial Infarction1CTD_human
TgenePRKCEC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgenePRKCEC0033141Cardiomyopathies, Primary1CTD_human
TgenePRKCEC0036529Myocardial Diseases, Secondary1CTD_human
TgenePRKCEC0038433Streptozotocin Diabetes1CTD_human
TgenePRKCEC0038580Substance Dependence1CTD_human
TgenePRKCEC0038586Substance Use Disorders1CTD_human
TgenePRKCEC0151744Myocardial Ischemia1CTD_human
TgenePRKCEC0236969Substance-Related Disorders1CTD_human
TgenePRKCEC0242231Coronary Stenosis1CTD_human
TgenePRKCEC0345904Malignant neoplasm of liver1CTD_human
TgenePRKCEC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgenePRKCEC0740858Substance abuse problem1CTD_human
TgenePRKCEC0878544Cardiomyopathies1CTD_human
TgenePRKCEC1510472Drug Dependence1CTD_human
TgenePRKCEC3241937Nonalcoholic Steatohepatitis1CTD_human
TgenePRKCEC4316881Prescription Drug Abuse1CTD_human
TgenePRKCEC4721453Peripheral Nervous System Diseases1CTD_human