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Fusion gene ID: 4108 |
FusionGeneSummary for BDH2_MANBA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BDH2_MANBA | Fusion gene ID: 4108 | Hgene | Tgene | Gene symbol | BDH2 | MANBA | Gene ID | 56898 | 4126 |
| Gene name | 3-hydroxybutyrate dehydrogenase 2 | mannosidase beta | |
| Synonyms | DHRS6|EFA6R|PRO20933|SDR15C1|UCPA-OR|UNQ6308 | MANB1 | |
| Cytomap | 4q24 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 3-hydroxybutyrate dehydrogenase type 23-hydroxybutyrate dehydrogenase, type 2R-beta-hydroxybutyrate dehydrogenasedehydrogenase/reductase SDR family member 6oxidoreductase UCPAshort chain dehydrogenase/reductase family 15C member 1 | beta-mannosidasebeta-mannosidase Alysosomal beta A mannosidasemannanasemannasemannosidase, beta A, lysosomal | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BUT1 | O00462 | |
| Ensembl transtripts involved in fusion gene | ENST00000296424, | ENST00000226578, ENST00000505239, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 4=64 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BDH2 [Title/Abstract] AND MANBA [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 | BDH2 | GO:0006635 | fatty acid beta-oxidation | 16380372 |
| Hgene | BDH2 | GO:0030855 | epithelial cell differentiation | 21492153 |
| 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 | SKCM | TCGA-DA-A1HW-06A | BDH2 | chr4 | 104020940 | - | MANBA | chr4 | 103595227 | - |
| * 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 |
| 5UTR-3CDS | ENST00000296424 | ENST00000226578 | BDH2 | chr4 | 104020940 | - | MANBA | chr4 | 103595227 | - |
| 5UTR-3CDS | ENST00000296424 | ENST00000505239 | BDH2 | chr4 | 104020940 | - | MANBA | chr4 | 103595227 | - |
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FusionProtFeatures for BDH2_MANBA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BDH2 | MANBA |