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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:APBB2-UBE2K (FusionGDB2 ID:HG323TG3093)

Fusion Gene Summary for APBB2-UBE2K

check button Fusion gene summary
Fusion gene informationFusion gene name: APBB2-UBE2K
Fusion gene ID: hg323tg3093
HgeneTgene
Gene symbol

APBB2

UBE2K

Gene ID

323

3093

Gene nameamyloid beta precursor protein binding family B member 2ubiquitin conjugating enzyme E2 K
SynonymsFE65L|FE65L1E2-25K|HIP2|HYPG|LIG|UBC1
Cytomap('APBB2')('UBE2K')

4p14-p13

4p14

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1ubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiqu
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000295974, ENST00000506352, 
ENST00000508593, ENST00000513140, 
ENST00000502841, ENST00000504305, 
ENST00000511572, ENST00000543538, 
Fusion gene scores* DoF score12 X 12 X 4=57617 X 12 X 8=1632
# samples 1218
** MAII scorelog2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APBB2 [Title/Abstract] AND UBE2K [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPBB2(40936473)-UBE2K(39739040), # samples:1
Anticipated loss of major functional domain due to fusion event.APBB2-UBE2K 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
TgeneUBE2K

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24882218

TgeneUBE2K

GO:0010994

free ubiquitin chain polymerization

24882218

TgeneUBE2K

GO:0070936

protein K48-linked ubiquitination

20061386



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
ChimerDB4BRCATCGA-E2-A152-01AAPBB2chr4

40936473

-UBE2Kchr4

39739040

+


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Fusion Gene ORF analysis for APBB2-UBE2K

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-3UTRENST00000295974ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-3UTRENST00000506352ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-3UTRENST00000508593ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-3UTRENST00000513140ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000295974ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000295974ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000506352ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000506352ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000508593ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000508593ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000513140ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
5CDS-intronENST00000513140ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000295974ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000295974ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000506352ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000506352ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000508593ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000508593ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000513140ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
Frame-shiftENST00000513140ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000502841ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000502841ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000504305ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000504305ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000511572ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000511572ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000543538ENST00000261427APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3CDSENST00000543538ENST00000295963APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3UTRENST00000502841ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3UTRENST00000504305ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3UTRENST00000511572ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-3UTRENST00000543538ENST00000438068APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000502841ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000502841ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000504305ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000504305ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000511572ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000511572ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000543538ENST00000445950APBB2chr4

40936473

-UBE2Kchr4

39739040

+
intron-intronENST00000543538ENST00000503368APBB2chr4

40936473

-UBE2Kchr4

39739040

+

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 APBB2-UBE2K


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)
APBB2chr440936472-UBE2Kchr439739039+8.06E-070.99999917
APBB2chr440936472-UBE2Kchr439739039+8.06E-070.99999917


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%

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Fusion Protein Features for APBB2-UBE2K


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/:40936473/:39739040)
- 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


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Fusion Gene Sequence for APBB2-UBE2K


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 APBB2-UBE2K


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 APBB2-UBE2K


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 APBB2-UBE2K


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPBB2C0043094Weight Gain1CTD_human