|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 30730 |
FusionGeneSummary for RBM28_KMT2C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBM28_KMT2C | Fusion gene ID: 30730 | Hgene | Tgene | Gene symbol | RBM28 | KMT2C | Gene ID | 55131 | 58508 |
| Gene name | RNA binding motif protein 28 | lysine methyltransferase 2C | |
| Synonyms | ANES | HALR|KLEFS2|MLL3 | |
| Cytomap | 7q32.1 | 7q36.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RNA-binding protein 282810480G15Rik | histone-lysine N-methyltransferase 2CALR-like proteinhistone-lysine N-methyltransferase MLL3histone-lysine N-methyltransferase, H3 lysine-4 specifichomologous to ALR proteinlysine (K)-specific methyltransferase 2Cmyeloid/lymphoid or mixed-lineage le | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NW13 | Q8NEZ4 | |
| Ensembl transtripts involved in fusion gene | ENST00000223073, ENST00000481788, ENST00000415472, | ENST00000262189, ENST00000355193, ENST00000485655, ENST00000485241, | |
| Fusion gene scores | * DoF score | 2 X 3 X 3=18 | 9 X 13 X 6=702 |
| # samples | 3 | 15 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/702*10)=-2.22650852980868 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RBM28 [Title/Abstract] AND KMT2C [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | 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 |
| 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 | BRCA | TCGA-C8-A26X-01A | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| TCGA | LD | UCEC | TCGA-AX-A3FV-01A | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| * 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 | ENST00000223073 | ENST00000262189 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| Frame-shift | ENST00000223073 | ENST00000355193 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000223073 | ENST00000485655 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000223073 | ENST00000485241 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5UTR-3CDS | ENST00000481788 | ENST00000262189 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5UTR-3CDS | ENST00000481788 | ENST00000355193 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5UTR-intron | ENST00000481788 | ENST00000485655 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5UTR-intron | ENST00000481788 | ENST00000485241 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| Frame-shift | ENST00000415472 | ENST00000262189 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| Frame-shift | ENST00000415472 | ENST00000355193 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000415472 | ENST00000485655 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000415472 | ENST00000485241 | RBM28 | chr7 | 127961319 | - | KMT2C | chr7 | 151882716 | - |
| In-frame | ENST00000223073 | ENST00000262189 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| In-frame | ENST00000223073 | ENST00000355193 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000223073 | ENST00000485655 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000223073 | ENST00000485241 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| intron-3CDS | ENST00000481788 | ENST00000262189 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| intron-3CDS | ENST00000481788 | ENST00000355193 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| intron-intron | ENST00000481788 | ENST00000485655 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| intron-intron | ENST00000481788 | ENST00000485241 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| In-frame | ENST00000415472 | ENST00000262189 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| In-frame | ENST00000415472 | ENST00000355193 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000415472 | ENST00000485655 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
| 5CDS-intron | ENST00000415472 | ENST00000485241 | RBM28 | chr7 | 127970872 | - | KMT2C | chr7 | 151882716 | - |
Top |
FusionProtFeatures for RBM28_KMT2C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBM28 | KMT2C |