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Fusion gene ID: 24436 |
FusionGeneSummary for NKX3-1_SEC63 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NKX3-1_SEC63 | Fusion gene ID: 24436 | Hgene | Tgene | Gene symbol | NKX3-1 | SEC63 | Gene ID | 4824 | 11231 |
| Gene name | NK3 homeobox 1 | SEC63 homolog, protein translocation regulator | |
| Synonyms | BAPX2|NKX3|NKX3.1|NKX3A | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
| Cytomap | 8p21.2 | 6q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | homeobox protein Nkx-3.1NK homeobox, family 3, ANK3 transcription factor homolog ANK3 transcription factor related, locus 1homeobox protein NK-3 homolog A | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q99801 | Q9UGP8 | |
| Ensembl transtripts involved in fusion gene | ENST00000380871, ENST00000523261, | ENST00000369002, ENST00000460009, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 30 X 6 X 14=2520 |
| # samples | 2 | 33 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(33/2520*10)=-2.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NKX3-1 [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | NKX3-1 | GO:0001934 | positive regulation of protein phosphorylation | 20395202 |
| Hgene | NKX3-1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17486276|19266349 |
| Hgene | NKX3-1 | GO:0008285 | negative regulation of cell proliferation | 17486276|19266349 |
| Hgene | NKX3-1 | GO:0010628 | positive regulation of gene expression | 17486276|20599703 |
| Hgene | NKX3-1 | GO:0010629 | negative regulation of gene expression | 17486276 |
| Hgene | NKX3-1 | GO:0010942 | positive regulation of cell death | 19266349 |
| Hgene | NKX3-1 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 20395202 |
| Hgene | NKX3-1 | GO:0030521 | androgen receptor signaling pathway | 19886863 |
| Hgene | NKX3-1 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 20599703 |
| Hgene | NKX3-1 | GO:0045892 | negative regulation of transcription, DNA-templated | 18794125|19597465 |
| Hgene | NKX3-1 | GO:0045930 | negative regulation of mitotic cell cycle | 19266349 |
| Hgene | NKX3-1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19797053|20855495 |
| Hgene | NKX3-1 | GO:0071383 | cellular response to steroid hormone stimulus | 19886863 |
| Hgene | NKX3-1 | GO:0071456 | cellular response to hypoxia | 21056661 |
| Hgene | NKX3-1 | GO:0071850 | mitotic cell cycle arrest | 19266349 |
| Hgene | NKX3-1 | GO:0071899 | negative regulation of estrogen receptor binding | 18794125 |
| Hgene | NKX3-1 | GO:2000836 | positive regulation of androgen secretion | 19886863 |
| Hgene | NKX3-1 | GO:2001022 | positive regulation of response to DNA damage stimulus | 20395202 |
| Hgene | NKX3-1 | GO:2001235 | positive regulation of apoptotic signaling pathway | 20599703 |
| Hgene | NKX3-1 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 17486276 |
| 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 | PRAD | TCGA-EJ-5519-01A | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
| * 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 | ENST00000380871 | ENST00000369002 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
| 5CDS-intron | ENST00000380871 | ENST00000460009 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
| intron-3CDS | ENST00000523261 | ENST00000369002 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
| intron-intron | ENST00000523261 | ENST00000460009 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
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FusionProtFeatures for NKX3-1_SEC63 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NKX3-1 | SEC63 |