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Fusion gene ID: 4108 |
FusionGeneSummary for BDH2_MANBA |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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Hgene | Tgene |
BDH2 | MANBA |
Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that sharesstructural similarities with bacterial enterobactin and associateswith LCN2, thereby playing a key role in iron homeostasis andtransport. Also acts as a 3-hydroxybutyrate dehydrogenase (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:16380372}. | Exoglycosidase that cleaves the single beta-linkedmannose residue from the non-reducing end of all N-linkedglycoprotein oligosaccharides. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BDH2_MANBA |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BDH2_MANBA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BDH2 | SNCA, BDH2, CDCA4, RAB27B, AVP, EID1, TEX13A, TRIB2, CFAP36, TMOD3 | MANBA | FBXO6, KLK11, TAZ, KIRREL2, CLEC18A, DNASE2B, PTPRK, SIAE, LIPH, GPHA2, SCGB1D1, FAM19A3, DEFA1, C4orf26, PRSS37, ADAMTS4, LYZL2, LYZL1, TRIM25 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BDH2_MANBA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BDH2_MANBA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |