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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:BCKDHB-TTK (FusionGDB2 ID:9386)

Fusion Gene Summary for BCKDHB-TTK

check button Fusion gene summary
Fusion gene informationFusion gene name: BCKDHB-TTK
Fusion gene ID: 9386
HgeneTgene
Gene symbol

BCKDHB

TTK

Gene ID

594

7272

Gene namebranched chain keto acid dehydrogenase E1 subunit betaTTK protein kinase
SynonymsBCKDE1B|BCKDH E1-beta|E1BCT96|ESK|MPH1|MPS1|MPS1L1|PYT
Cytomap

6q14.1

6q14.1

Type of geneprotein-codingprotein-coding
Description2-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 acidual specificity protein kinase TTKcancer/testis antigen 96monopolar spindle 1 kinasemonopolar spindle 1-like 1phosphotyrosine picked threonine kinasephosphotyrosine picked threonine-protein kinase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000369760, ENST00000356489, 
ENST00000320393, ENST00000545529, 
ENST00000486968, 		ENST00000509894, 
ENST00000230510, ENST00000369798, 
ENST00000515751, 
Fusion gene scores* DoF score8 X 5 X 4=1601 X 1 X 1=1
# samples 81
** MAII scorelog2(8/160*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

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

Most frequent breakpointBCKDHB(80912929)-TTK(80751836), # samples:3
TTK(80724303)-BCKDHB(80910651), # samples:2
Anticipated loss of major functional domain due to fusion event.BCKDHB-TTK seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
BCKDHB-TTK seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
BCKDHB-TTK seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BCKDHB-TTK seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across BCKDHB (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TTK (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BLCATCGA-K4-A3WU-01BBCKDHBchr6

80912929

+TTKchr6

80751836

+
ChimerDB4BLCATCGA-K4-A3WU-01BBCKDHBchr6

80912929

+TTKchr6

80751836

+
ChimerDB4BLCATCGA-K4-A3WU-01BBCKDHBchr6

80912929

-TTKchr6

80751836

+


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Fusion Gene ORF analysis for BCKDHB-TTK

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
intron-3CDSENST00000369760ENST00000509894BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-3CDSENST00000369760ENST00000230510BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-3CDSENST00000369760ENST00000369798BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-intronENST00000369760ENST00000515751BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000356489ENST00000509894BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000356489ENST00000230510BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000356489ENST00000369798BCKDHBchr6

80912929

+TTKchr6

80751836

+
5CDS-intronENST00000356489ENST00000515751BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000320393ENST00000509894BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000320393ENST00000230510BCKDHBchr6

80912929

+TTKchr6

80751836

+
Frame-shiftENST00000320393ENST00000369798BCKDHBchr6

80912929

+TTKchr6

80751836

+
5CDS-intronENST00000320393ENST00000515751BCKDHBchr6

80912929

+TTKchr6

80751836

+
3UTR-3CDSENST00000545529ENST00000509894BCKDHBchr6

80912929

+TTKchr6

80751836

+
3UTR-3CDSENST00000545529ENST00000230510BCKDHBchr6

80912929

+TTKchr6

80751836

+
3UTR-3CDSENST00000545529ENST00000369798BCKDHBchr6

80912929

+TTKchr6

80751836

+
3UTR-intronENST00000545529ENST00000515751BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-3CDSENST00000486968ENST00000509894BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-3CDSENST00000486968ENST00000230510BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-3CDSENST00000486968ENST00000369798BCKDHBchr6

80912929

+TTKchr6

80751836

+
intron-intronENST00000486968ENST00000515751BCKDHBchr6

80912929

+TTKchr6

80751836

+

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 BCKDHB-TTK


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)
BCKDHBchr680912929+TTKchr680751835+0.0116165020.9883835
BCKDHBchr680912929+TTKchr680751835+0.0116165020.9883835

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BCKDHB-TTK


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 BCKDHB-TTK


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 BCKDHB-TTK


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 BCKDHB-TTK


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 BCKDHB-TTK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCKDHBC0024776Maple Syrup Urine Disease5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBCKDHBC2930990Maple syrup urine disease, type 1B1GENOMICS_ENGLAND
TgeneTTKC0032460Polycystic Ovary Syndrome1CTD_human
TgeneTTKC1136382Sclerocystic Ovaries1CTD_human
TgeneTTKC2239176Liver carcinoma1CTD_human