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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: 4305

FusionGeneSummary for BOLA2_PDHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_PDHA1
Fusion gene ID: 4305
HgeneTgene
Gene symbol

BOLA2

PDHA1

Gene ID

654483

5160

Gene namebolA family member 2Bpyruvate dehydrogenase E1 alpha 1 subunit
SynonymsBOLA2PDHA|PDHAD|PDHCE1A|PHE1A
Cytomap

16p11.2

Xp22.12

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2Bpyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialPDHE1-A type Ipyruvate dehydrogenase (lipoamide) alpha 1pyruvate dehydrogenase E1 subunitpyruvate dehydrogenase alpha 1pyruvate dehydrogenase complex, E1-alpha polypeptide
Modification date2018051920180523
UniProtAcc

Q9H3K6

P08559

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000545074, 
ENST00000540249, ENST00000379806, 
ENST00000422285, ENST00000379805, 
ENST00000379804, ENST00000478795, 
Fusion gene scores* DoF score24 X 31 X 3=22326 X 5 X 4=120
# samples 316
** MAII scorelog2(31/2232*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BOLA2 [Title/Abstract] AND PDHA1 [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
HgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

HgeneBOLA2

GO:0097428

protein maturation by iron-sulfur cluster transfer

27519415

TgenePDHA1

GO:0006086

acetyl-CoA biosynthetic process from pyruvate

19081061

TgenePDHA1

GO:0006099

tricarboxylic acid cycle

19081061


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
ChiTaRS3.1BF694498BOLA2chr16

30078604

+PDHA1chrX

19372612

+
* 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-3CDSENST00000330978ENST00000545074BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000540249BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000379806BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000422285BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000379805BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000379804BOLA2chr16

30078604

+PDHA1chrX

19372612

+
intron-intronENST00000330978ENST00000478795BOLA2chr16

30078604

+PDHA1chrX

19372612

+

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FusionProtFeatures for BOLA2_PDHA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BOLA2

Q9H3K6

PDHA1

P08559

Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}.

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 BOLA2_PDHA1


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 BOLA2_PDHA1


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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RelatedDrugs for BOLA2_PDHA1


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 BOLA2_PDHA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDHA1C1839413Pyruvate Dehydrogenase E1 Alpha Deficiency11ORPHANET;UNIPROT
TgenePDHA1C0001125Acidosis, Lactic1CTD_human
TgenePDHA1C0029408Degenerative polyarthritis1CTD_human
TgenePDHA1C0033578Prostatic Neoplasms1CTD_human
TgenePDHA1C0034345Pyruvate Dehydrogenase Complex Deficiency Disease1CTD_human
TgenePDHA1C0034350Pyruvate Metabolism, Inborn Errors1CTD_human
TgenePDHA1C0038356Stomach Neoplasms1CTD_human
TgenePDHA1C0151744Myocardial Ischemia1CTD_human