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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:CACNB2-AP1G1 (FusionGDB2 ID:12397)

Fusion Gene Summary for CACNB2-AP1G1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNB2-AP1G1
Fusion gene ID: 12397
HgeneTgene
Gene symbol

CACNB2

AP1G1

Gene ID

783

164

Gene namecalcium voltage-gated channel auxiliary subunit beta 2adaptor related protein complex 1 subunit gamma 1
SynonymsCAB2|CACNLB2|CAVB2|MYSBADTG|CLAPG1
Cytomap

10p12.33-p12.31

16q22.2

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit beta-2calcium channel voltage-dependent subunit beta 2calcium channel, voltage-dependent, beta 2 subunitlambert-Eaton myasthenic syndrome antigen Bmyasthenic (Lambert-Eaton) syndrome antigen BAP-1 complex subunit gamma-1adapter-related protein complex 1 subunit gamma-1adaptor protein complex AP-1 subunit gamma-1adaptor related protein complex 1 gamma 1 subunitclathrin assembly protein complex 1 gamma large chainclathrin assembly protein c
Modification date2020032220200313
UniProtAcc

Q08289

O43747

Ensembl transtripts involved in fusion geneENST00000282343, ENST00000324631, 
ENST00000352115, ENST00000377315, 
ENST00000377319, ENST00000377328, 
ENST00000377329, ENST00000377331, 
ENST00000396576, ENST00000467034, 
ENST00000299980, ENST00000393512, 
ENST00000423132, ENST00000433195, 
ENST00000564155, ENST00000569748, 
ENST00000570297, 
Fusion gene scores* DoF score6 X 7 X 2=8412 X 12 X 5=720
# samples 714
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNB2 [Title/Abstract] AND AP1G1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNB2(18508702)-AP1G1(71777487), # 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
HgeneCACNB2

GO:0051928

positive regulation of calcium ion transport

1309651

HgeneCACNB2

GO:0070509

calcium ion import

1309651


check buttonFusion gene breakpoints across CACNB2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across AP1G1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/AAA688140CACNB2chr10

18508702

-AP1G1chr16

71777487

+


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Fusion Gene ORF analysis for CACNB2-AP1G1

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-intronENST00000282343ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000282343ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000324631ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000352115ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377315ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377319ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377328ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377329ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000377331ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000396576ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000299980CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000393512CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000423132CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000433195CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000564155CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000569748CACNB2chr10

18508702

-AP1G1chr16

71777487

+
intron-intronENST00000467034ENST00000570297CACNB2chr10

18508702

-AP1G1chr16

71777487

+

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 CACNB2-AP1G1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CACNB2-AP1G1


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/:18508702/:71777487)
- 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
CACNB2

Q08289

AP1G1

O43747

FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025). {ECO:0000269|PubMed:15758025}.

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 CACNB2-AP1G1


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 CACNB2-AP1G1


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 CACNB2-AP1G1


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 CACNB2-AP1G1


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