Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BECN1-AP2B1 (FusionGDB2 ID:HG8678TG163)

Fusion Gene Summary for BECN1-AP2B1

check button Fusion gene summary
Fusion gene informationFusion gene name: BECN1-AP2B1
Fusion gene ID: hg8678tg163
HgeneTgene
Gene symbol

BECN1

AP2B1

Gene ID

8678

163

Gene namebeclin 1adaptor related protein complex 2 subunit beta 1
SynonymsATG6|VPS30|beclin1ADTB2|AP105B|AP2-BETA|CLAPB1
Cytomap('BECN1')('AP2B1')

17q21.31

17q12

Type of geneprotein-codingprotein-coding
Descriptionbeclin-1ATG6 autophagy related 6 homologbeclin 1 (coiled-coil, moesin-like BCL2-interacting protein)beclin 1, autophagy relatedcoiled-coil myosin-like BCL2-interacting proteintestis secretory sperm-binding protein Li 215eAP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related prote
Modification date2020032720200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000361523, ENST00000438274, 
ENST00000590099, 
Fusion gene scores* DoF score5 X 5 X 3=7514 X 18 X 9=2268
# samples 519
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/2268*10)=-3.57734931661128
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BECN1 [Title/Abstract] AND AP2B1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBECN1(40965965)-AP2B1(34036242), # samples:2
Anticipated loss of major functional domain due to fusion event.BECN1-AP2B1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BECN1-AP2B1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneBECN1

GO:0006914

autophagy

23629966

TgeneAP2B1

GO:0072583

clathrin-dependent endocytosis

23676497



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
ChimerDB4ESCATCGA-L5-A8NSBECN1chr17

40965965

-AP2B1chr17

34036242

+
ChimerDB4ESCATCGA-L5-A8NSBECN1chr17

40965966

-AP2B1chr17

34036243

+


Top

Fusion Gene ORF analysis for BECN1-AP2B1

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
5CDS-3UTRENST00000361523ENST00000545922BECN1chr17

40965965

-AP2B1chr17

34036242

+
5CDS-3UTRENST00000361523ENST00000545922BECN1chr17

40965966

-AP2B1chr17

34036243

+
5CDS-3UTRENST00000438274ENST00000545922BECN1chr17

40965965

-AP2B1chr17

34036242

+
5CDS-3UTRENST00000438274ENST00000545922BECN1chr17

40965966

-AP2B1chr17

34036243

+
5CDS-3UTRENST00000590099ENST00000545922BECN1chr17

40965965

-AP2B1chr17

34036242

+
5CDS-3UTRENST00000590099ENST00000545922BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000262325BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000262325BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000312678BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000312678BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000537622BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000537622BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000538556BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000538556BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000589344BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000589344BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000361523ENST00000592545BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000361523ENST00000592545BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000262325BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000262325BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000312678BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000312678BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000537622BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000537622BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000538556BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000538556BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000589344BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000589344BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000438274ENST00000592545BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000438274ENST00000592545BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000262325BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000262325BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000312678BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000312678BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000537622BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000537622BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000538556BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000538556BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000589344BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000589344BECN1chr17

40965966

-AP2B1chr17

34036243

+
Frame-shiftENST00000590099ENST00000592545BECN1chr17

40965965

-AP2B1chr17

34036242

+
Frame-shiftENST00000590099ENST00000592545BECN1chr17

40965966

-AP2B1chr17

34036243

+

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

Top

Fusion Genomic Features for BECN1-AP2B1


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)
BECN1chr1740965965-AP2B1chr1734036242+3.74E-081
BECN1chr1740965965-AP2B1chr1734036242+3.74E-081


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.
genomic feature of top 1%

Top

Fusion Protein Features for BECN1-AP2B1


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/:40965965/:34036242)
- 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
..
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: 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}.

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


Top

Fusion Gene Sequence for BECN1-AP2B1


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.

Top

Fusion Gene PPI Analysis for BECN1-AP2B1


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


Top

Related Drugs for BECN1-AP2B1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BECN1-AP2B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBECN1C0024121Lung Neoplasms2CTD_human
HgeneBECN1C0242379Malignant neoplasm of lung2CTD_human
HgeneBECN1C0007102Malignant tumor of colon1CTD_human
HgeneBECN1C0009375Colonic Neoplasms1CTD_human
HgeneBECN1C0027051Myocardial Infarction1CTD_human
HgeneBECN1C0036341Schizophrenia1PSYGENET
HgeneBECN1C0038220Status Epilepticus1CTD_human
HgeneBECN1C0270823Petit mal status1CTD_human
HgeneBECN1C0311335Grand Mal Status Epilepticus1CTD_human
HgeneBECN1C0393734Complex Partial Status Epilepticus1CTD_human
HgeneBECN1C0751522Status Epilepticus, Subclinical1CTD_human
HgeneBECN1C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneBECN1C0751524Simple Partial Status Epilepticus1CTD_human
HgeneBECN1C0752347Lewy Body Disease1CTD_human
TgeneC0086132Depressive Symptoms1PSYGENET