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Fusion gene ID: 26714 |
FusionGeneSummary for PEX1_CDK6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PEX1_CDK6 | Fusion gene ID: 26714 | Hgene | Tgene | Gene symbol | PEX1 | CDK6 | Gene ID | 339324 | 1021 |
| Gene name | zinc finger protein 260 | cyclin dependent kinase 6 | |
| Synonyms | OZRF1|PEX1|ZFP260 | MCPH12|PLSTIRE | |
| Cytomap | 19q13.12 | 7q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein 260zfp-260 | cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | O43933 | Q00534 | |
| Ensembl transtripts involved in fusion gene | ENST00000438045, ENST00000248633, ENST00000428214, ENST00000541751, | ENST00000265734, ENST00000424848, ENST00000491250, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 7 X 7 X 4=196 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/196*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PEX1 [Title/Abstract] AND CDK6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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 |
| Tgene | CDK6 | GO:0001954 | positive regulation of cell-matrix adhesion | 10205165 |
| Tgene | CDK6 | GO:0003323 | type B pancreatic cell development | 20668294 |
| Tgene | CDK6 | GO:0006468 | protein phosphorylation | 8114739 |
| Tgene | CDK6 | GO:0010468 | regulation of gene expression | 15254224 |
| Tgene | CDK6 | GO:0045638 | negative regulation of myeloid cell differentiation | 17431401 |
| Tgene | CDK6 | GO:0045656 | negative regulation of monocyte differentiation | 26542173 |
| Tgene | CDK6 | GO:0045668 | negative regulation of osteoblast differentiation | 15254224 |
| Tgene | CDK6 | GO:0045786 | negative regulation of cell cycle | 14985467 |
| Tgene | CDK6 | GO:2000773 | negative regulation of cellular senescence | 17420273 |
| 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 | COAD | TCGA-AA-3697-01A | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| * 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 |
| In-frame | ENST00000438045 | ENST00000265734 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| In-frame | ENST00000438045 | ENST00000424848 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| 5CDS-intron | ENST00000438045 | ENST00000491250 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| In-frame | ENST00000248633 | ENST00000265734 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| In-frame | ENST00000248633 | ENST00000424848 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| 5CDS-intron | ENST00000248633 | ENST00000491250 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| In-frame | ENST00000428214 | ENST00000265734 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| In-frame | ENST00000428214 | ENST00000424848 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| 5CDS-intron | ENST00000428214 | ENST00000491250 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| intron-3CDS | ENST00000541751 | ENST00000265734 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| intron-3CDS | ENST00000541751 | ENST00000424848 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
| intron-intron | ENST00000541751 | ENST00000491250 | PEX1 | chr7 | 92157621 | - | CDK6 | chr7 | 92355107 | - |
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FusionProtFeatures for PEX1_CDK6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PEX1 | CDK6 |