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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ABCD4-PRKCE (FusionGDB2 ID:HG5826TG5581) |
Fusion Gene Summary for ABCD4-PRKCE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABCD4-PRKCE | Fusion gene ID: hg5826tg5581 | Hgene | Tgene | Gene symbol | ABCD4 | PRKCE | Gene ID | 5826 | 5581 |
| Gene name | ATP binding cassette subfamily D member 4 | protein kinase C epsilon | |
| Synonyms | ABC41|EST352188|MAHCJ|P70R|P79R|PMP69|PXMP1L | PKCE|nPKC-epsilon | |
| Cytomap | ('ABCD4')('PRKCE') 14q24.3 | 2p21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-binding cassette sub-family D member 469 kDa peroxisomal ABC-transporterATP-binding cassette, sub-family D (ALD), member 4PMP70-related proteinPXMP1-Lperoxisomal membrane protein 69 | protein kinase C epsilon type | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | . | Q02156 | |
| Ensembl transtripts involved in fusion gene | ENST00000298816, ENST00000356924, ENST00000557554, ENST00000557588, | ||
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 11 X 12 X 7=924 |
| # samples | 4 | 12 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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 | PubMed: ABCD4 [Title/Abstract] AND PRKCE [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ABCD4(74766227)-PRKCE(45921237), # samples:1 | ||
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PRKCE | GO:0006468 | protein phosphorylation | 18556656 |
| Tgene | PRKCE | GO:0018105 | peptidyl-serine phosphorylation | 15695813 |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for ABCD4-PRKCE |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ABCD4-PRKCE |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ABCD4-PRKCE |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74766227/:45921237) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | PRKCE |
| 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}. | 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}. |
| Retention 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 * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for ABCD4-PRKCE |
| 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 ABCD4-PRKCE |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ABCD4-PRKCE |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | PRKCE | Q02156 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | PRKCE | Q02156 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for ABCD4-PRKCE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ABCD4 | C3553915 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | ABCD4 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
| Hgene | ABCD4 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ABCD4 | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Hgene | ABCD4 | C0042847 | Vitamin B 12 Deficiency | 1 | CTD_human |
| Hgene | ABCD4 | C0235874 | Disease Exacerbation | 1 | CTD_human |
| Tgene | C0020429 | Hyperalgesia | 3 | CTD_human | |
| Tgene | C0458247 | Allodynia | 3 | CTD_human | |
| Tgene | C0751211 | Hyperalgesia, Primary | 3 | CTD_human | |
| Tgene | C0751212 | Hyperalgesia, Secondary | 3 | CTD_human | |
| Tgene | C0751213 | Tactile Allodynia | 3 | CTD_human | |
| Tgene | C0751214 | Hyperalgesia, Thermal | 3 | CTD_human | |
| Tgene | C2936719 | Mechanical Allodynia | 3 | CTD_human | |
| Tgene | C0002152 | Alloxan Diabetes | 1 | CTD_human | |
| Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human;UNIPROT | |
| Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
| Tgene | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human | |
| Tgene | C0011881 | Diabetic Nephropathy | 1 | CTD_human | |
| Tgene | C0013146 | Drug abuse | 1 | CTD_human | |
| Tgene | C0013170 | Drug habituation | 1 | CTD_human | |
| Tgene | C0013222 | Drug Use Disorders | 1 | CTD_human | |
| Tgene | C0017667 | Nodular glomerulosclerosis | 1 | CTD_human | |
| Tgene | C0023903 | Liver neoplasms | 1 | CTD_human | |
| Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
| Tgene | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human | |
| Tgene | C0033141 | Cardiomyopathies, Primary | 1 | CTD_human | |
| Tgene | C0036529 | Myocardial Diseases, Secondary | 1 | CTD_human | |
| Tgene | C0038433 | Streptozotocin Diabetes | 1 | CTD_human | |
| Tgene | C0038580 | Substance Dependence | 1 | CTD_human | |
| Tgene | C0038586 | Substance Use Disorders | 1 | CTD_human | |
| Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
| Tgene | C0236969 | Substance-Related Disorders | 1 | CTD_human | |
| Tgene | C0242231 | Coronary Stenosis | 1 | CTD_human | |
| Tgene | C0345904 | Malignant neoplasm of liver | 1 | CTD_human | |
| Tgene | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human | |
| Tgene | C0740858 | Substance abuse problem | 1 | CTD_human | |
| Tgene | C0878544 | Cardiomyopathies | 1 | CTD_human | |
| Tgene | C1510472 | Drug Dependence | 1 | CTD_human | |
| Tgene | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human | |
| Tgene | C4316881 | Prescription Drug Abuse | 1 | CTD_human | |
| Tgene | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |
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