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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: 4307

FusionGeneSummary for BOLA2_PMPCA

check button Fusion gene summary
Fusion gene informationFusion gene name: BOLA2_PMPCA
Fusion gene ID: 4307
HgeneTgene
Gene symbol

BOLA2

PMPCA

Gene ID

654483

23203

Gene namebolA family member 2Bpeptidase, mitochondrial processing alpha subunit
SynonymsBOLA2Alpha-MPP|CLA1|CPD3|INPP5E|P-55|SCAR2
Cytomap

16p11.2

9q34.3

Type of geneprotein-codingprotein-coding
DescriptionbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2Bmitochondrial-processing peptidase subunit alphaCerebellar ataxia-1cerebellar ataxia 1 (autosomal recessive)inositol polyphosphate-5-phosphatase, 72 kDmitochondrial matrix processing protease, alpha subunit
Modification date2018051920180523
UniProtAcc

Q9H3K6

Q10713

Ensembl transtripts involved in fusion geneENST00000330978, ENST00000371720, 
ENST00000371717, ENST00000399219, 
ENST00000462616, 
Fusion gene scores* DoF score24 X 31 X 3=22325 X 4 X 3=60
# samples 315
** MAII scorelog2(31/2232*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BOLA2 [Title/Abstract] AND PMPCA [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


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
ChiTaRS3.1BE937971BOLA2chr16

30129814

-PMPCAchr9

139316289

+
* 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-intronENST00000330978ENST00000371720BOLA2chr16

30129814

-PMPCAchr9

139316289

+
intron-intronENST00000330978ENST00000371717BOLA2chr16

30129814

-PMPCAchr9

139316289

+
intron-intronENST00000330978ENST00000399219BOLA2chr16

30129814

-PMPCAchr9

139316289

+
intron-intronENST00000330978ENST00000462616BOLA2chr16

30129814

-PMPCAchr9

139316289

+

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FusionProtFeatures for BOLA2_PMPCA


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

Q9H3K6

PMPCA

Q10713

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}. Cleaves presequences (transit peptides) frommitochondrial protein precursors. {ECO:0000269|PubMed:25808372}.

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_PMPCA


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_PMPCA


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_PMPCA


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_PMPCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePMPCAC1859298SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22ORPHANET;UNIPROT