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Fusion gene ID: 3853 |
FusionGeneSummary for BAZ1A_NKX2-1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAZ1A_NKX2-1 | Fusion gene ID: 3853 | 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 | 20180519 | 20180519 | |
| UniProtAcc | Q9NRL2 | P43699 | |
| Ensembl transtripts involved in fusion gene | ENST00000358716, ENST00000382422, ENST00000360310, ENST00000553853, | ENST00000354822, ENST00000498187, ENST00000518149, ENST00000522719, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BAZ1A [Title/Abstract] AND NKX2-1 [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 | 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 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 | LUAD | TCGA-L9-A444-01A | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| * 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 |
| Frame-shift | ENST00000358716 | ENST00000354822 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000358716 | ENST00000498187 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000358716 | ENST00000518149 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000358716 | ENST00000522719 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| In-frame | ENST00000382422 | ENST00000354822 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000382422 | ENST00000498187 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000382422 | ENST00000518149 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000382422 | ENST00000522719 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| Frame-shift | ENST00000360310 | ENST00000354822 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000360310 | ENST00000498187 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000360310 | ENST00000518149 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5CDS-5UTR | ENST00000360310 | ENST00000522719 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5UTR-3CDS | ENST00000553853 | ENST00000354822 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5UTR-5UTR | ENST00000553853 | ENST00000498187 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5UTR-5UTR | ENST00000553853 | ENST00000518149 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
| 5UTR-5UTR | ENST00000553853 | ENST00000522719 | BAZ1A | chr14 | 35331250 | - | NKX2-1 | chr14 | 36988575 | - |
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FusionProtFeatures for BAZ1A_NKX2-1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BAZ1A | NKX2-1 |