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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: 359

FusionGeneSummary for ACBD3_BOLA2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACBD3_BOLA2
Fusion gene ID: 359
HgeneTgene
Gene symbol

ACBD3

BOLA2

Gene ID

64746

654483

Gene nameacyl-CoA binding domain containing 3bolA family member 2B
SynonymsGCP60|GOCAP1|GOLPH1|PAP7BOLA2
Cytomap

1q42.12

16p11.2

Type of geneprotein-codingprotein-coding
DescriptionGolgi resident protein GCP60PBR- and PKA-associated protein 7PKA (RIalpha)-associated proteinacyl-Coenzyme A binding domain containing 3golgi complex associated protein 1, 60kDagolgi phosphoprotein 1peripheral benzodiazepine receptor-associated protbolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B
Modification date2018051920180519
UniProtAcc

Q9H3P7

Q9H3K6

Ensembl transtripts involved in fusion geneENST00000366812, ENST00000464927, 
ENST00000330978, 
Fusion gene scores* DoF score2 X 2 X 2=819 X 26 X 1=494
# samples 228
** MAII scorelog2(2/8*10)=1.32192809488736log2(28/494*10)=-0.819084214639711
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACBD3 [Title/Abstract] AND BOLA2 [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
TgeneBOLA2

GO:0044571

[2Fe-2S] cluster assembly

27519415

TgeneBOLA2

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
ChiTaRS3.1BQ017904ACBD3chr1

226374170

+BOLA2chr16

30096550

+
* 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-intronENST00000366812ENST00000330978ACBD3chr1

226374170

+BOLA2chr16

30096550

+
intron-intronENST00000464927ENST00000330978ACBD3chr1

226374170

+BOLA2chr16

30096550

+

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FusionProtFeatures for ACBD3_BOLA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACBD3

Q9H3P7

BOLA2

Q9H3K6

Involved in the maintenance of Golgi structure byinteracting with giantin, affecting protein transport between theendoplasmic reticulum and Golgi (PubMed:11590181). Involved inhormone-induced steroid biosynthesis in testicular Leydig cells(By similarity). Recruits PI4KB to the Golgi apparatus membrane;enhances the enzyme activity of PI4KB activity via its membranerecruitment thereby increasing the local concentration of thesubstrate in the vicinity of the kinase (PubMed:27009356).{ECO:0000250|UniProtKB:Q8BMP6, ECO:0000269|PubMed:11590181,ECO:0000269|PubMed:27009356}. (Microbial infection) Sensitizes PI4KB activation byKobuviral (Aichi) 3A protein. {ECO:0000269|PubMed:27989622}. 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 ACBD3_BOLA2


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 ACBD3_BOLA2


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 ACBD3_BOLA2


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 ACBD3_BOLA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource