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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: 4003

FusionGeneSummary for BCKDHB_TTK

check button Fusion gene summary
Fusion gene informationFusion gene name: BCKDHB_TTK
Fusion gene ID: 4003
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 date2018052320180527
UniProtAcc

P21953

P33981

Ensembl transtripts involved in fusion geneENST00000369760, ENST00000356489, 
ENST00000320393, ENST00000545529, 
ENST00000486968, 
ENST00000509894, 
ENST00000230510, ENST00000369798, 
ENST00000515751, 
Fusion gene scores* DoF score3 X 2 X 3=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: BCKDHB [Title/Abstract] AND TTK [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

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
TCGARVBLCATCGA-K4-A3WU-01BBCKDHBchr6

80912929

+TTKchr6

80751836

+
* 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
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

+

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FusionProtFeatures for BCKDHB_TTK


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

P21953

TTK

P33981

The branched-chain alpha-keto dehydrogenase complexcatalyzes the overall conversion of alpha-keto acids to acyl-CoAand CO(2). It contains multiple copies of three enzymaticcomponents: branched-chain alpha-keto acid decarboxylase (E1),lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Phosphorylates proteins on serine, threonine, andtyrosine. Probably associated with cell proliferation. Essentialfor chromosome alignment by enhancing AURKB activity (via directCDCA8 phosphorylation) at the centromere, and for the mitoticcheckpoint. {ECO:0000269|PubMed:18243099}.

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 BCKDHB_TTK


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 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
BCKDHBCUL3, PPM1K, POLB, HDAC6, FAF2, DBT, ZNF785, LRP1, TCF25, BCKDHA, LARS2, POLLTTKCDC27, CDC16, TP53, TTK, CDC20, RPS6KA1, MAPK6, CASC5, CDK2, APP, ERI3, HDLBP, WDR5, UBE4B, VCP, TACC2, CDCA8, SHMT2, NXF1, FZR1, LPPR1, AURKB, POLR2A, NTRK1, PLK4, CENPJ, SSX2IP, PCM1, CEP170, KIAA0753, CEP162, CEP120, CEP152, CNTROB, CEP128, CEP135, CEP44, CEP63, CEP89, CNTRL, NINL, NIN, ODF2, RPGRIP1L, DCTN1, POC1A, KIF2A, RPL7A, UTRN, ESPL1, GEMIN5, IBTK, HERC5, NAA50, ESR1, SNW1, HSP90AA1, CDH1, C5AR2, FAM174A, SLC39A9, NPY2R, SLC18A1, APLNR, C1orf85, SLC2A12, GRPR, CHRM4, MAS1, IL13RA2, LPAR4, LAMP2, RAD52


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 BCKDHB_TTK


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 BCKDHB_TTK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCKDHBC0024776Maple Syrup Urine Disease3CTD_human;ORPHANET;UNIPROT
TgeneTTKC0032460Polycystic Ovary Syndrome1CTD_human