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Fusion gene ID: 3362 |
FusionGeneSummary for ATP2B4_TFEB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP2B4_TFEB | Fusion gene ID: 3362 | 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 | 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 | 20180523 | 20180522 | |
| UniProtAcc | P23634 | P19484 | |
| Ensembl transtripts involved in fusion gene | ENST00000357681, ENST00000391954, ENST00000367218, ENST00000367219, ENST00000341360, ENST00000466407, | ENST00000230323, ENST00000358871, ENST00000420312, ENST00000403298, ENST00000373033, ENST00000394283, | |
| Fusion gene scores | * DoF score | 8 X 4 X 6=192 | 3 X 2 X 3=18 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ATP2B4 [Title/Abstract] AND TFEB [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Hgene | ATP2B4 | GO:0010751 | negative regulation of nitric oxide mediated signal transduction | 19278978 |
| Hgene | ATP2B4 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19278978 |
| 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 |
| 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:1903249 | negative regulation of citrulline biosynthetic process | 19278978 |
| Hgene | ATP2B4 | GO:2000481 | positive regulation of cAMP-dependent protein kinase activity | 19278978 |
| Tgene | TFEB | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19556463 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | UCEC | TCGA-AX-A3G7-01A | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-5UTR | ENST00000357681 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000357681 | ENST00000403298 | 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 | ENST00000391954 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000391954 | ENST00000403298 | 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 | ENST00000367218 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367218 | ENST00000403298 | 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 | ENST00000367219 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000367219 | ENST00000403298 | 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 | ENST00000341360 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 5CDS-5UTR | ENST00000341360 | ENST00000403298 | 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 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000230323 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000358871 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000420312 | ATP2B4 | chr1 | 203696699 | + | TFEB | chr6 | 41658973 | - |
| 3UTR-5UTR | ENST00000466407 | ENST00000403298 | 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 | - |
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FusionProtFeatures for ATP2B4_TFEB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP2B4 | TFEB |
| Calcium/calmodulin-regulated and magnesium-dependentenzyme that catalyzes the hydrolysis of ATP coupled with thetransport of calcium out of the cell (PubMed:8530416). Byregulating sperm cell calcium homeostasis, may play a role insperm motility (By similarity). {ECO:0000250|UniProtKB:Q6Q477,ECO:0000269|PubMed:8530416}. | Transcription factor that specifically recognizes andbinds E-box sequences (5'-CANNTG-3'). Efficient DNA-bindingrequires dimerization with itself or with another MiT/TFE familymember such as TFE3 or MITF. In association with TFE3, activatesthe expression of CD40L in T-cells, thereby playing a role in T-cell-dependent antibody responses in activated CD4(+) T-cells andthymus-dependent humoral immunity. Specifically recognizes andbinds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in theregulatory region of many lysosomal genes, leading to activatetheir expression. It thereby plays a central role in expression oflysosomal genes. Acts as a positive regulator of autophagy bypromoting expression of genes involved in autophagy. Specificallyrecognizes the gamma-E3 box, a subset of E-boxes, present in theheavy-chain immunoglobulin enhancer. Plays a role in the signaltransduction processes required for normal vascularization of theplacenta. {ECO:0000269|PubMed:19556463,ECO:0000269|PubMed:23434374}. |
| 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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FusionGeneSequence for ATP2B4_TFEB |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI 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 |
| ATP2B4 | DLG1, CASK, DLG2, DLG3, ERBB2IP, ADRB2, CDK7, LGALS3, BSG, LGALS8, TAS2R7, EDA2R, HSD17B6, LGALS9, AGTR1, LGALS9C, SLC39A4, LYPD3, DLK1, WBP1, PTGER3, TMEM52B, ATP1A1, ATP9A, HM13, ATP5J, CANX, CLGN, TMEM17, EGFR, CDH1, CTDSPL, ATP2B2, TMEM5, LPAR1, LILRB4, FPR2, IPPK, FAM174A, C3AR1, GPC1, CYP2B6, PCDHGB1, APLNR, KCNA5, NMUR2, HTR3A, VAC14, TRIM25 | TFEB | YWHAQ, SRPK1, XPO1, ATP5J, IFIT1, STT3A, MAPT, MITF, PPM1G, TFE3, BAG2, C10orf12, MCAT, EML4, TBC1D14, HDAC5, TFEC, TAF9, YWHAG, YWHAZ, YWHAE, YWHAB, GPNMB, TRIM16 |
| - 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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RelatedDrugs for ATP2B4_TFEB |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ATP2B4_TFEB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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