|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 4296 |
FusionGeneSummary for BOLA2_DMPK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BOLA2_DMPK | Fusion gene ID: 4296 | Hgene | Tgene | Gene symbol | BOLA2 | DMPK | Gene ID | 654483 | 1760 |
| Gene name | bolA family member 2B | DM1 protein kinase | |
| Synonyms | BOLA2 | DM|DM1|DM1PK|DMK|MDPK|MT-PK | |
| Cytomap | 16p11.2 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | myotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9H3K6 | Q09013 | |
| Ensembl transtripts involved in fusion gene | ENST00000330978, | ENST00000291270, ENST00000600757, ENST00000343373, ENST00000447742, ENST00000458663, ENST00000354227, ENST00000595361, | |
| Fusion gene scores | * DoF score | 24 X 31 X 3=2232 | 3 X 3 X 1=9 |
| # samples | 31 | 3 | |
| ** MAII score | log2(31/2232*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BOLA2 [Title/Abstract] AND DMPK [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 | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
| Hgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
| Tgene | DMPK | GO:0006468 | protein phosphorylation | 10913253|11287000 |
| Tgene | DMPK | GO:0008016 | regulation of heart contraction | 15598648 |
| Tgene | DMPK | GO:0010657 | muscle cell apoptotic process | 18729234 |
| 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 |
| ChiTaRS3.1 | BG992769 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| * 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 |
| intron-3CDS | ENST00000330978 | ENST00000291270 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000600757 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000343373 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000447742 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000458663 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-3CDS | ENST00000330978 | ENST00000354227 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
| intron-intron | ENST00000330978 | ENST00000595361 | BOLA2 | chr16 | 29820907 | + | DMPK | chr19 | 46273901 | - |
Top |
FusionProtFeatures for BOLA2_DMPK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BOLA2 | DMPK |