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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:APOH-BOLA3 (FusionGDB2 ID:HG350TG388962)

Fusion Gene Summary for APOH-BOLA3

check button Fusion gene summary
Fusion gene informationFusion gene name: APOH-BOLA3
Fusion gene ID: hg350tg388962
HgeneTgene
Gene symbol

APOH

BOLA3

Gene ID

350

388962

Gene nameapolipoprotein HbolA family member 3
SynonymsB2G1|B2GP1|BGMMDS2
Cytomap('APOH')('BOLA3')

17q24.2

2p13.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-2-glycoprotein 1APC inhibitorB2GPIactivated protein C-binding proteinanticardiolipin cofactorapo-Hapolipoprotein H (beta-2-glycoprotein I)beta(2)GPIepididymis secretory sperm binding proteinbolA-like protein 3bolA homolog 3
Modification date2020031320200327
UniProtAcc.

Q53S33

Ensembl transtripts involved in fusion geneENST00000205948, 
Fusion gene scores* DoF score5 X 4 X 2=401 X 1 X 1=1
# samples 51
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: APOH [Title/Abstract] AND BOLA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPOH(64219816)-BOLA3(74362785), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneAPOH

GO:0001937

negative regulation of endothelial cell proliferation

17872974

HgeneAPOH

GO:0006641

triglyceride metabolic process

7417307

HgeneAPOH

GO:0007597

blood coagulation, intrinsic pathway

4052628

HgeneAPOH

GO:0010596

negative regulation of endothelial cell migration

17872974

HgeneAPOH

GO:0016525

negative regulation of angiogenesis

17872974

HgeneAPOH

GO:0030195

negative regulation of blood coagulation

4052628

HgeneAPOH

GO:0031639

plasminogen activation

16480936

HgeneAPOH

GO:0033033

negative regulation of myeloid cell apoptotic process

15534879

HgeneAPOH

GO:0034392

negative regulation of smooth muscle cell apoptotic process

15534879

HgeneAPOH

GO:0051006

positive regulation of lipoprotein lipase activity

7417307

HgeneAPOH

GO:0051917

regulation of fibrinolysis

16480936

HgeneAPOH

GO:0051918

negative regulation of fibrinolysis

14726399



check button Fusion gene information
* 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
ChimerDB4LIHCTCGA-BC-A10Z-01AAPOHchr17

64219816

-BOLA3chr2

74362785

-


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Fusion Gene ORF analysis for APOH-BOLA3

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
Frame-shiftENST00000205948ENST00000295326APOHchr17

64219816

-BOLA3chr2

74362785

-
Frame-shiftENST00000205948ENST00000327428APOHchr17

64219816

-BOLA3chr2

74362785

-

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 APOH-BOLA3


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)


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Fusion Protein Features for APOH-BOLA3


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:64219816/:74362785)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.BOLA3

Q53S33

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772). {ECO:0000250|UniProtKB:P39724, ECO:0000305|PubMed:27532772}.

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 APOH-BOLA3


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 APOH-BOLA3


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 APOH-BOLA3


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 APOH-BOLA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPOHC0019193Hepatitis, Toxic1CTD_human
HgeneAPOHC0036341Schizophrenia1PSYGENET
HgeneAPOHC0085278Antiphospholipid Syndrome1GENOMICS_ENGLAND
HgeneAPOHC0860207Drug-Induced Liver Disease1CTD_human
HgeneAPOHC1262760Hepatitis, Drug-Induced1CTD_human
HgeneAPOHC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneAPOHC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneAPOHC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC3280378MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3502075Multiple Mitochondrial Dysfunctions Syndrome1GENOMICS_ENGLAND