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Fusion gene ID: 6553 |
FusionGeneSummary for CDK2_UBE3A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDK2_UBE3A | Fusion gene ID: 6553 | Hgene | Tgene | Gene symbol | CDK2 | UBE3A | Gene ID | 1017 | 7337 |
| Gene name | cyclin dependent kinase 2 | ubiquitin protein ligase E3A | |
| Synonyms | CDKN2|p33(CDK2) | ANCR|AS|E6-AP|EPVE6AP|HPVE6A | |
| Cytomap | 12q13.2 | 15q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 2cdc2-related protein kinasecell division protein kinase 2p33 protein kinase | ubiquitin-protein ligase E3ACTCL tumor antigen se37-2E6AP ubiquitin-protein ligaseHECT-type ubiquitin transferase E3Ahuman papilloma virus E6-associated proteinhuman papillomavirus E6-associated proteinoncogenic protein-associated protein E6-APrena | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P24941 | Q05086 | |
| Ensembl transtripts involved in fusion gene | ENST00000266970, ENST00000553376, ENST00000440311, ENST00000354056, ENST00000556656, | ENST00000232165, ENST00000438097, ENST00000566215, ENST00000428984, ENST00000397954, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CDK2 [Title/Abstract] AND UBE3A [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 | CDK2 | GO:0006468 | protein phosphorylation | 12944431|28666995 |
| Hgene | CDK2 | GO:0008284 | positive regulation of cell proliferation | 10767298 |
| Hgene | CDK2 | GO:0016572 | histone phosphorylation | 11746698 |
| Hgene | CDK2 | GO:0018105 | peptidyl-serine phosphorylation | 23184662 |
| Hgene | CDK2 | GO:0060968 | regulation of gene silencing | 20935635 |
| Tgene | UBE3A | GO:0031398 | positive regulation of protein ubiquitination | 17108031 |
| Tgene | UBE3A | GO:0032570 | response to progesterone | 16772533 |
| Tgene | UBE3A | GO:0050847 | progesterone receptor signaling pathway | 16772533 |
| Tgene | UBE3A | GO:0051865 | protein autoubiquitination | 24105792 |
| Tgene | UBE3A | GO:0070936 | protein K48-linked ubiquitination | 12890688 |
| 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 | SKCM | TCGA-EE-A2ML-06A | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| * 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 | ENST00000266970 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| 5CDS-intron | ENST00000266970 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| 5CDS-5UTR | ENST00000266970 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| 5CDS-intron | ENST00000266970 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| 5CDS-intron | ENST00000266970 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000553376 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000553376 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000553376 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000553376 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000553376 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000440311 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000440311 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000440311 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000440311 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000440311 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000354056 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000354056 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000354056 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000354056 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000354056 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000556656 | ENST00000232165 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000556656 | ENST00000438097 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-5UTR | ENST00000556656 | ENST00000566215 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000556656 | ENST00000428984 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
| intron-intron | ENST00000556656 | ENST00000397954 | CDK2 | chr12 | 56366568 | + | UBE3A | chr15 | 25657118 | - |
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FusionProtFeatures for CDK2_UBE3A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDK2 | UBE3A |