|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 18525 |
FusionGeneSummary for KEAP1_EYA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KEAP1_EYA2 | Fusion gene ID: 18525 | Hgene | Tgene | Gene symbol | KEAP1 | EYA2 | Gene ID | 9817 | 2139 |
| Gene name | kelch like ECH associated protein 1 | EYA transcriptional coactivator and phosphatase 2 | |
| Synonyms | INrf2|KLHL19 | EAB1 | |
| Cytomap | 19p13.2 | 20q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch-like ECH-associated protein 1KEAP1 delta Ccytosolic inhibitor of Nrf2kelch-like family member 19kelch-like protein 19 | eyes absent homolog 2 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q14145 | O00167 | |
| Ensembl transtripts involved in fusion gene | ENST00000171111, ENST00000393623, ENST00000588024, | ENST00000357410, ENST00000327619, ENST00000497428, ENST00000317304, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 11 X 7 X 8=616 |
| # samples | 2 | 16 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(16/616*10)=-1.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KEAP1 [Title/Abstract] AND EYA2 [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 | KEAP1 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 15983046 |
| Hgene | KEAP1 | GO:0016567 | protein ubiquitination | 15983046 |
| Tgene | EYA2 | GO:0016576 | histone dephosphorylation | 19351884 |
| 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 | LD | LUAD | TCGA-49-AARE-01A | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| * 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 | ENST00000171111 | ENST00000357410 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| In-frame | ENST00000171111 | ENST00000327619 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| 5CDS-intron | ENST00000171111 | ENST00000497428 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| 5CDS-intron | ENST00000171111 | ENST00000317304 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| Frame-shift | ENST00000393623 | ENST00000357410 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| Frame-shift | ENST00000393623 | ENST00000327619 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| 5CDS-intron | ENST00000393623 | ENST00000497428 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| 5CDS-intron | ENST00000393623 | ENST00000317304 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| intron-3CDS | ENST00000588024 | ENST00000357410 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| intron-3CDS | ENST00000588024 | ENST00000327619 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| intron-intron | ENST00000588024 | ENST00000497428 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
| intron-intron | ENST00000588024 | ENST00000317304 | KEAP1 | chr19 | 10599868 | - | EYA2 | chr20 | 45797787 | + |
Top |
FusionProtFeatures for KEAP1_EYA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KEAP1 | EYA2 |