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Center for Computational Systems Medicine level3
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Potential Active Site Information

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Potentially Interacting Small Molecules through Virtual Screening

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Biochemical Features of Small Molecules with ADME

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Drug Toxicity Information

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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:MBOAT2-PRKCE

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MBOAT2-PRKCE
FusionPDB ID: 52054
FusionGDB2.0 ID: 52054
HgeneTgene
Gene symbol

MBOAT2

PRKCE

Gene ID

129642

5581

Gene namemembrane bound O-acyltransferase domain containing 2protein kinase C epsilon
SynonymsLPAAT|LPCAT4|LPEAT|LPLAT 2|OACT2PKCE|nPKC-epsilon
Cytomap

2p25.1

2p21

Type of geneprotein-codingprotein-coding
Descriptionlysophospholipid acyltransferase 21-acylglycerophosphate O-acyltransferase1-acylglycerophosphoethanolamine O-acyltransferaseO-acyltransferase (membrane bound) domain containing 2lyso-PA acyltransferaselyso-PE acyltransferaselysophosphatidic acid acyprotein kinase C epsilon type
Modification date2020032020200327
UniProtAcc

Q6ZWT7

Q02156

Ensembl transtripts involved in fusion geneENST idsENST00000305997, ENST00000486484, 
ENST00000394874, ENST00000467135, 
ENST00000306156, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 7 X 9=69311 X 12 X 7=924
# samples 1312
** MAII scorelog2(13/693*10)=-2.41434372910876
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: MBOAT2 [Title/Abstract] AND PRKCE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)
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
TgenePRKCE

GO:0006468

protein phosphorylation

18556656

TgenePRKCE

GO:0018105

peptidyl-serine phosphorylation

15695813


check buttonFusion gene breakpoints across MBOAT2 (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 PRKCE (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.


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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
ChimerKB3..MBOAT2chr2

9022640

-PRKCEchr2

46372231

+


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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)
ENST00000305997MBOAT2chr29022640-ENST00000306156PRKCEchr246372231+44367051991326375

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 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

>52054_52054_1_MBOAT2-PRKCE_MBOAT2_chr2_9022640_ENST00000305997_PRKCE_chr2_46372231_ENST00000306156_length(amino acids)=375AA_BP=168
MATTSTTGSTLLQPLSNAVQLPIDQVNFVVCQLFALLAAIWFRTYLHSSKTSSFIRHVVATLLGLYLALFCFGWYALHFLVQSGISYCIM
IIIGVENMHNYCFVFALGYLTVCQVTRVYIFDYGQYSADFSGPMMIITQKITSLACEIHDGMFRKDEELTSSQRDLAVRDLKLDNILLDA
EGHCKLADFGMCKEGILNGVTTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNEDDLFESILHDDVLYPVWLSK
EAVSILKAFMTKNPHKRLGCVASQNGEDAIKQHPFFKEIDWVLLEQKKIKPPFKPRIKTKRDVNNFDQDFTREEPVLTLVDEAIVKQINQ

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

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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:/chr2:)
- 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
MBOAT2

Q6ZWT7

PRKCE

Q02156

FUNCTION: Acyltransferase which catalyzes the transfert of an acyl group from an acyl-CoA to a lysophospholipid leading to the production of a phospholipid and participates in the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle (PubMed:18772128). Catalyzes preferentially the acylation of lysophosphatidylethanolamine (1-acyl-sn-glycero-3-phosphoethanolamine or LPE) and lysophosphatidic acid (LPA) and to a lesser extend lysophosphatidylcholine (LPC) and lysophosphatidylserine (LPS) (PubMed:18772128). Prefers oleoyl-CoA as the acyl donor (PubMed:18772128). May be involved in chondrocyte differentiation (By similarity). {ECO:0000250|UniProtKB:Q8R3I2, ECO:0000269|PubMed:18772128}.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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (132) >>>132.pdbFusion protein BP residue: 168
CIF file (132) >>>132.cif
MBOAT2chr29022640-PRKCEchr246372231+
MATTSTTGSTLLQPLSNAVQLPIDQVNFVVCQLFALLAAIWFRTYLHSSK
TSSFIRHVVATLLGLYLALFCFGWYALHFLVQSGISYCIMIIIGVENMHN
YCFVFALGYLTVCQVTRVYIFDYGQYSADFSGPMMIITQKITSLACEIHD
GMFRKDEELTSSQRDLAVRDLKLDNILLDAEGHCKLADFGMCKEGILNGV
TTTTFCGTPDYIAPEILQELEYGPSVDWWALGVLMYEMMAGQPPFEADNE
DDLFESILHDDVLYPVWLSKEAVSILKAFMTKNPHKRLGCVASQNGEDAI
KQHPFFKEIDWVLLEQKKIKPPFKPRIKTKRDVNNFDQDFTREEPVLTLV
375
3D view using mol* of 132 (AA BP:168)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
MBOAT2_pLDDT.png
all structure
all structure
PRKCE_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
MBOAT2_PRKCE_132_PAE.png (AA BP:168)
all structure
MBOAT2_PRKCE_132_pLDDT.png (AA BP:168)
all structure
MBOAT2_PRKCE_132_pLDDT_and_active_sites.png (AA BP:168)
all structure
MBOAT2_PRKCE_132_violinplot.png (AA BP:168)
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots
MBOAT2_PRKCE_132.png
all structure

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Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
1321.0692431.148778.2670.6760.6760.7951.0980.6051.8151.115Chain A: 6,7,8,24,25,27,28,31,32,35,61,64,65,67,68
,71,72,75,79,80,103,107,110,114,117,120,121,126,12
7,128,129,130,131,132,133,135,136,137,138,139,142,
355,356,358,359,360,363,364,365,366,367,368,369,37
0,371,372,373,374,375

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Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore

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check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group

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Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three


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Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity


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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
MBOAT2TCTN2, TCTN3, CA9, FAM105A, PLEKHA4, ORF7b, ORF7a, E, nsp6, nsp4, ST7, ADRB2, ATP2A1, BCAP31, EMD, HSD17B11, HSD3B7, KIAA1715, METTL7A, REEP5, RPN1, RPN2, SEC61B, SEC62, SLC22A2, LAMP5,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MBOAT2all structure
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 MBOAT2-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 MBOAT2-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
HgeneMBOAT2C0019209Hepatomegaly1CTD_human
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