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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:ATP2B4-TFEB (FusionGDB2 ID:HG493TG7942) |
Fusion Gene Summary for ATP2B4-TFEB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP2B4-TFEB | Fusion gene ID: hg493tg7942 | Hgene | Tgene | Gene symbol | ATP2B4 | TFEB | Gene ID | 493 | 7942 |
| Gene name | ATPase plasma membrane Ca2+ transporting 4 | transcription factor EB | |
| Synonyms | ATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4x | ALPHATFEB|BHLHE35|TCFEB | |
| Cytomap | ('ATP2B4')('TFEB') 1q32.1 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | plasma membrane calcium-transporting ATPase 4ATPase, Ca++ transporting, plasma membrane 4matrix-remodeling-associated protein 1sarcolemmal calcium pump | transcription factor EBT-cell transcription factor EBclass E basic helix-loop-helix protein 35 | |
| Modification date | 20200327 | 20200329 | |
| UniProtAcc | . | P19484 | |
| Ensembl transtripts involved in fusion gene | ENST00000466407, ENST00000341360, ENST00000357681, ENST00000367218, ENST00000367219, ENST00000391954, | ||
| Fusion gene scores | * DoF score | 14 X 5 X 8=560 | 6 X 5 X 6=180 |
| # samples | 17 | 5 | |
| ** MAII score | log2(17/560*10)=-1.71989208080726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/180*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATP2B4 [Title/Abstract] AND TFEB [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ATP2B4(203696699)-TFEB(41658973), # samples:3 | ||
| 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 |
| Hgene | ATP2B4 | GO:0006874 | cellular calcium ion homeostasis | 19278978|25798335 |
| Hgene | ATP2B4 | GO:0010629 | negative regulation of gene expression | 25147342 |
| Hgene | ATP2B4 | GO:0010751 | negative regulation of nitric oxide mediated signal transduction | 19278978 |
| Hgene | ATP2B4 | GO:0016525 | negative regulation of angiogenesis | 25147342 |
| Hgene | ATP2B4 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19278978 |
| Hgene | ATP2B4 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 25147342 |
| Hgene | ATP2B4 | GO:0045019 | negative regulation of nitric oxide biosynthetic process | 11591728|19278978 |
| Hgene | ATP2B4 | GO:0051001 | negative regulation of nitric-oxide synthase activity | 11591728|17242280|19278978|19287093 |
| Hgene | ATP2B4 | GO:0070885 | negative regulation of calcineurin-NFAT signaling cascade | 19287093|25147342 |
| Hgene | ATP2B4 | GO:0071872 | cellular response to epinephrine stimulus | 19278978 |
| Hgene | ATP2B4 | GO:0098736 | negative regulation of the force of heart contraction | 17242280 |
| Hgene | ATP2B4 | GO:0140199 | negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process | 17242280 |
| Hgene | ATP2B4 | GO:1900082 | negative regulation of arginine catabolic process | 19278978 |
| Hgene | ATP2B4 | GO:1901660 | calcium ion export | 25798335 |
| Hgene | ATP2B4 | GO:1902548 | negative regulation of cellular response to vascular endothelial growth factor stimulus | 25147342 |
| Hgene | ATP2B4 | GO:1903078 | positive regulation of protein localization to plasma membrane | 15955804 |
| Hgene | ATP2B4 | GO:1903249 | negative regulation of citrulline biosynthetic process | 19278978 |
| Hgene | ATP2B4 | GO:2000481 | positive regulation of cAMP-dependent protein kinase activity | 19278978 |
| Tgene | TFEB | GO:0010468 | regulation of gene expression | 27278822 |
| Tgene | TFEB | GO:0045893 | positive regulation of transcription, DNA-templated | 27278822|29146937 |
| Tgene | TFEB | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19556463 |
| 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 |
| ChimerDB4 | UCEC | TCGA-AX-A3G7-01A | ATP2B4 | chr1 | 203696699 | - | TFEB | chr6 | 41658973 | - |
| ChimerDB4 | UCEC | TCGA-AX-A3G7-01A | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
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Fusion Gene ORF analysis for ATP2B4-TFEB |
| 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 |
| 3UTR-5UTR | ENST00000466407 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000373033 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000394283 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000403298 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 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 ATP2B4-TFEB |
| 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 ATP2B4-TFEB |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:203696699/:41658973) - 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 |
| . | TFEB |
| 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: Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423, PubMed:30120233, PubMed:31672913). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF (PubMed:1748288, PubMed:19556463, PubMed:29146937). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation (PubMed:21617040, PubMed:22576015, PubMed:22343943, PubMed:22692423). Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423). Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes (PubMed:19556463, PubMed:22692423). Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1 (PubMed:29146937). Acts as a positive regulator of autophagy by promoting expression of genes involved in autophagy (PubMed:21617040, PubMed:22576015, PubMed:23434374, PubMed:27278822). In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity (By similarity). Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer (PubMed:2115126). Plays a role in the signal transduction processes required for normal vascularization of the placenta (By similarity). Involved in the immune response to infection by the bacteria S.aureus or S.enterica, acting downstream of protein kinase D (PKD), probably by regulating cytokine and chemokine expression (By similarity). {ECO:0000250|UniProtKB:Q9R210, ECO:0000269|PubMed:1748288, ECO:0000269|PubMed:19556463, ECO:0000269|PubMed:2115126, ECO:0000269|PubMed:21617040, ECO:0000269|PubMed:22343943, ECO:0000269|PubMed:22576015, ECO:0000269|PubMed:22692423, ECO:0000269|PubMed:23434374, ECO:0000269|PubMed:27278822, ECO:0000269|PubMed:29146937, ECO:0000269|PubMed:30120233, ECO:0000269|PubMed:31672913}. |
| 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 ATP2B4-TFEB |
| 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 ATP2B4-TFEB |
| 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 ATP2B4-TFEB |
| 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 |
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Related Diseases for ATP2B4-TFEB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C4518356 | MiT family translocation renal cell carcinoma | 2 | ORPHANET |
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