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Fusion Protein:BAZ1A-NKX2-1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: BAZ1A-NKX2-1 | FusionPDB ID: 9015 | FusionGDB2.0 ID: 9015 | Hgene | Tgene | Gene symbol | BAZ1A | NKX2-1 | Gene ID | 11177 | 7080 |
| Gene name | bromodomain adjacent to zinc finger domain 1A | NK2 homeobox 1 | |
| Synonyms | ACF1|WALp1|WCRF180|hACF1 | BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1 | |
| Cytomap | 14q13.1-q13.2 | 14q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor | homeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9NRL2 | P43699 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000358716, ENST00000360310, ENST00000382422, ENST00000553853, | ENST00000498187, ENST00000518149, ENST00000522719, ENST00000354822, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 12 X 9 X 5=540 | 1 X 1 X 1=1 |
| # samples | 12 | 1 | |
| ** MAII score | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: BAZ1A [Title/Abstract] AND NKX2-1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BAZ1A(35331250)-NKX2-1(36988575), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | BAZ1A-NKX2-1 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. BAZ1A-NKX2-1 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. BAZ1A-NKX2-1 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. BAZ1A-NKX2-1 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. BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. BAZ1A-NKX2-1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. | ||
| * 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 | BAZ1A | GO:0006261 | DNA-dependent DNA replication | 12434153 |
| Tgene | NKX2-1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 23143308 |
| Tgene | NKX2-1 | GO:0010628 | positive regulation of gene expression | 16960125 |
| Tgene | NKX2-1 | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 19293183 |
| Tgene | NKX2-1 | GO:0030336 | negative regulation of cell migration | 19293183 |
| Tgene | NKX2-1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19293183 |
| Tgene | NKX2-1 | GO:0045893 | positive regulation of transcription, DNA-templated | 14960358 |
| Tgene | NKX2-1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7559607|7713914|16960125 |
| Fusion gene breakpoints across BAZ1A (5'-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 breakpoints across NKX2-1 (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 |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LUAD | TCGA-L9-A444-01A | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000382422 | BAZ1A | chr14 | 35331250 | - | ENST00000354822 | NKX2-1 | chr14 | 36988575 | - | 2730 | 720 | 28 | 1848 | 606 |
| 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 |
| ENST00000382422 | ENST00000354822 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - | 0.01518999 | 0.98481005 |
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Fusion Amino Acid Sequences |
| 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 >9015_9015_1_BAZ1A-NKX2-1_BAZ1A_chr14_35331250_ENST00000382422_NKX2-1_chr14_36988575_ENST00000354822_length(amino acids)=606AA_BP=230 MPHCEAAAGREEVGRARGAGAAAAPLARHPGSGRNELGSGSGRGASVTQKAAELLPARGPAHAAAEGSPPYRLSFPSNFDREAGPARAAE GPGEPAGGREMPLLHRKPFVRQKPPADLRPDEEVFYCKVTNEIFRHYDDFFERTILCNSLVWSCAVTGRPGLTYQEALESEKKARQNLQS FPEPLIIPVLYLTSLTHRSRLHEICDDIFAYVKDRYFVEETVEVIRNNGASRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLG APLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAI SRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYK MKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAIS -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:35331250/chr14:36988575) - 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 |
| BAZ1A | NKX2-1 |
| FUNCTION: Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.; FUNCTION: Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions. | FUNCTION: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity). {ECO:0000250|UniProtKB:P23441, ECO:0000250|UniProtKB:P50220}. |
| 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. |
| - 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 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 22_128 | 130.66666666666666 | 1525.0 | Domain | WAC |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 22_128 | 130.66666666666666 | 1557.0 | Domain | WAC |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 22_128 | 130.66666666666666 | 1557.0 | Domain | WAC |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 1_128 | 130.66666666666666 | 1525.0 | Region | Note=Required for association with the CHRAC1/POLE3 complex |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 1_128 | 130.66666666666666 | 1557.0 | Region | Note=Required for association with the CHRAC1/POLE3 complex |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 1_128 | 130.66666666666666 | 1557.0 | Region | Note=Required for association with the CHRAC1/POLE3 complex |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000354822 | 0 | 3 | 234_243 | 25.666666666666668 | 402.0 | Compositional bias | Note=Poly-Gly | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000354822 | 0 | 3 | 246_253 | 25.666666666666668 | 402.0 | Compositional bias | Note=Poly-Gln | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000354822 | 0 | 3 | 294_303 | 25.666666666666668 | 402.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000498187 | 0 | 2 | 234_243 | 0 | 372.0 | Compositional bias | Note=Poly-Gly | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000498187 | 0 | 2 | 246_253 | 0 | 372.0 | Compositional bias | Note=Poly-Gln | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000498187 | 0 | 2 | 294_303 | 0 | 372.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000518149 | 0 | 3 | 234_243 | 0 | 372.0 | Compositional bias | Note=Poly-Gly | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000518149 | 0 | 3 | 246_253 | 0 | 372.0 | Compositional bias | Note=Poly-Gln | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000518149 | 0 | 3 | 294_303 | 0 | 372.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000522719 | 1 | 4 | 234_243 | 0 | 372.0 | Compositional bias | Note=Poly-Gly | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000522719 | 1 | 4 | 246_253 | 0 | 372.0 | Compositional bias | Note=Poly-Gln | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000522719 | 1 | 4 | 294_303 | 0 | 372.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000354822 | 0 | 3 | 161_220 | 25.666666666666668 | 402.0 | DNA binding | Homeobox | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000498187 | 0 | 2 | 161_220 | 0 | 372.0 | DNA binding | Homeobox | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000518149 | 0 | 3 | 161_220 | 0 | 372.0 | DNA binding | Homeobox | |
| Tgene | NKX2-1 | chr14:35331250 | chr14:36988575 | ENST00000522719 | 1 | 4 | 161_220 | 0 | 372.0 | DNA binding | Homeobox |
| - 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 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 306_397 | 130.66666666666666 | 1525.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 634_709 | 130.66666666666666 | 1525.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 306_397 | 130.66666666666666 | 1557.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 634_709 | 130.66666666666666 | 1557.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 306_397 | 130.66666666666666 | 1557.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 634_709 | 130.66666666666666 | 1557.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 1239_1257 | 130.66666666666666 | 1525.0 | Compositional bias | Note=Glu-rich |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 487_491 | 130.66666666666666 | 1525.0 | Compositional bias | Note=Poly-Glu |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 1239_1257 | 130.66666666666666 | 1557.0 | Compositional bias | Note=Glu-rich |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 487_491 | 130.66666666666666 | 1557.0 | Compositional bias | Note=Poly-Glu |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 1239_1257 | 130.66666666666666 | 1557.0 | Compositional bias | Note=Glu-rich |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 487_491 | 130.66666666666666 | 1557.0 | Compositional bias | Note=Poly-Glu |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 1446_1516 | 130.66666666666666 | 1525.0 | Domain | Bromo |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 422_487 | 130.66666666666666 | 1525.0 | Domain | DDT |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 1446_1516 | 130.66666666666666 | 1557.0 | Domain | Bromo |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 422_487 | 130.66666666666666 | 1557.0 | Domain | DDT |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 1446_1516 | 130.66666666666666 | 1557.0 | Domain | Bromo |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 422_487 | 130.66666666666666 | 1557.0 | Domain | DDT |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 1148_1198 | 130.66666666666666 | 1525.0 | Zinc finger | PHD-type |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 1148_1198 | 130.66666666666666 | 1557.0 | Zinc finger | PHD-type |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 1148_1198 | 130.66666666666666 | 1557.0 | Zinc finger | PHD-type |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| BAZ1A | |
| NKX2-1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000358716 | - | 3 | 26 | 667_933 | 130.66666666666666 | 1525.0 | SMARCA5 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000360310 | - | 3 | 27 | 667_933 | 130.66666666666666 | 1557.0 | SMARCA5 |
| Hgene | BAZ1A | chr14:35331250 | chr14:36988575 | ENST00000382422 | - | 2 | 26 | 667_933 | 130.66666666666666 | 1557.0 | SMARCA5 |
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Related Drugs to BAZ1A-NKX2-1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to BAZ1A-NKX2-1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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