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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DBI-BCKDHB (FusionGDB2 ID:HG1622TG594)

Fusion Gene Summary for DBI-BCKDHB

check button Fusion gene summary
Fusion gene informationFusion gene name: DBI-BCKDHB
Fusion gene ID: hg1622tg594
HgeneTgene
Gene symbol

DBI

BCKDHB

Gene ID

1622

594

Gene namediazepam binding inhibitor, acyl-CoA binding proteinbranched chain keto acid dehydrogenase E1 subunit beta
SynonymsACBD1|ACBP|CCK-RP|EPBCKDE1B|BCKDH E1-beta|E1B
Cytomap('DBI')('BCKDHB')

2q14.2

6q14.1

Type of geneprotein-codingprotein-coding
Descriptionacyl-CoA-binding proteinGABA receptor modulatoracyl coenzyme A binding proteinacyl-Coenzyme A binding domain containing 1cholecystokinin-releasing peptide, trypsin-sensitivediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein2-oxoisovalerate dehydrogenase subunit beta, mitochondrialE1b-beta subunit of the branched-chain complexbranched chain alpha-ketoacid dehydrogenase E1-beta subunitbranched chain keto acid dehydrogenase E1, beta polypeptidebranched-chain alpha-keto aci
Modification date2020032020200313
UniProtAcc

P07108

P21953

Ensembl transtripts involved in fusion geneENST00000355857, ENST00000409094, 
ENST00000535617, ENST00000535757, 
ENST00000311521, ENST00000393103, 
ENST00000460901, ENST00000542275, 
Fusion gene scores* DoF score12 X 6 X 1=728 X 7 X 5=280
# samples 128
** MAII scorelog2(12/72*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DBI [Title/Abstract] AND BCKDHB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDBI(120124584)-BCKDHB(81053432), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDBI

GO:0036151

phosphatidylcholine acyl-chain remodeling

21079819

HgeneDBI

GO:1903060

negative regulation of protein lipidation

21079819

HgeneDBI

GO:1905920

positive regulation of CoA-transferase activity

21079819

HgeneDBI

GO:2001140

positive regulation of phospholipid transport

21079819



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABP391782DBIchr2

120124584

-BCKDHBchr6

81053432

+


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Fusion Gene ORF analysis for DBI-BCKDHB

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-3UTRENST00000355857ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-3UTRENST00000409094ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-3UTRENST00000535617ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-3UTRENST00000535757ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000355857ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000355857ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000355857ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000355857ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000409094ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000409094ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000409094ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000409094ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535617ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535617ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535617ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535617ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535757ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535757ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535757ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
5UTR-intronENST00000535757ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-3UTRENST00000311521ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-3UTRENST00000393103ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-3UTRENST00000460901ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-3UTRENST00000542275ENST00000545529DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000311521ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000311521ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000311521ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000311521ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000393103ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000393103ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000393103ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000393103ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000460901ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000460901ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000460901ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000460901ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000542275ENST00000320393DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000542275ENST00000356489DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000542275ENST00000369760DBIchr2

120124584

-BCKDHBchr6

81053432

+
intron-intronENST00000542275ENST00000486968DBIchr2

120124584

-BCKDHBchr6

81053432

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DBI-BCKDHB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DBI-BCKDHB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:120124584/:81053432)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P07108

BCKDHB

P21953

FUNCTION: Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor.FUNCTION: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

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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Fusion Gene Sequence for DBI-BCKDHB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DBI-BCKDHB


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


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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Related Drugs for DBI-BCKDHB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DBI-BCKDHB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDBIC0007097Carcinoma1CTD_human
HgeneDBIC0024667Animal Mammary Neoplasms1CTD_human
HgeneDBIC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneDBIC0205696Anaplastic carcinoma1CTD_human
HgeneDBIC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneDBIC0205698Undifferentiated carcinoma1CTD_human
HgeneDBIC0205699Carcinomatosis1CTD_human
HgeneDBIC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC0024776Maple Syrup Urine Disease5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2930990Maple syrup urine disease, type 1B1GENOMICS_ENGLAND