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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4108

FusionGeneSummary for BDH2_MANBA

check button Fusion gene summary
Fusion gene informationFusion gene name: BDH2_MANBA
Fusion gene ID: 4108
HgeneTgene
Gene symbol

BDH2

MANBA

Gene ID

56898

4126

Gene name3-hydroxybutyrate dehydrogenase 2mannosidase beta
SynonymsDHRS6|EFA6R|PRO20933|SDR15C1|UCPA-OR|UNQ6308MANB1
Cytomap

4q24

4q24

Type of geneprotein-codingprotein-coding
Description3-hydroxybutyrate dehydrogenase type 23-hydroxybutyrate dehydrogenase, type 2R-beta-hydroxybutyrate dehydrogenasedehydrogenase/reductase SDR family member 6oxidoreductase UCPAshort chain dehydrogenase/reductase family 15C member 1beta-mannosidasebeta-mannosidase Alysosomal beta A mannosidasemannanasemannasemannosidase, beta A, lysosomal
Modification date2018052320180523
UniProtAcc

Q9BUT1

O00462

Ensembl transtripts involved in fusion geneENST00000296424, ENST00000226578, 
ENST00000505239, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 4=64
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBDH2

GO:0006635

fatty acid beta-oxidation

16380372

HgeneBDH2

GO:0030855

epithelial cell differentiation

21492153


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-DA-A1HW-06ABDH2chr4

104020940

-MANBAchr4

103595227

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000296424ENST00000226578BDH2chr4

104020940

-MANBAchr4

103595227

-
5UTR-3CDSENST00000296424ENST00000505239BDH2chr4

104020940

-MANBAchr4

103595227

-

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FusionProtFeatures for BDH2_MANBA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BDH2

Q9BUT1

MANBA

O00462

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.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BDH2_MANBA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BDH2SNCA, BDH2, CDCA4, RAB27B, AVP, EID1, TEX13A, TRIB2, CFAP36, TMOD3MANBAFBXO6, KLK11, TAZ, KIRREL2, CLEC18A, DNASE2B, PTPRK, SIAE, LIPH, GPHA2, SCGB1D1, FAM19A3, DEFA1, C4orf26, PRSS37, ADAMTS4, LYZL2, LYZL1, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BDH2_MANBA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BDH2_MANBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource