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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-DMD (FusionGDB2 ID:5349)

Fusion Gene Summary for APBB2-DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: APBB2-DMD
Fusion gene ID: 5349
HgeneTgene
Gene symbol

APBB2

DMD

Gene ID

323

1756

Gene nameamyloid beta precursor protein binding family B member 2dystrophin
SynonymsFE65L|FE65L1BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap

4p14-p13

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1dystrophin
Modification date2020032720200329
UniProtAcc

Q92870

P11532

Ensembl transtripts involved in fusion geneENST00000295974, ENST00000502841, 
ENST00000504305, ENST00000506352, 
ENST00000508593, ENST00000513140, 
ENST00000543538, ENST00000511572, 
ENST00000445312, ENST00000288447, 
ENST00000361471, ENST00000378680, 
ENST00000378702, ENST00000378723, 
ENST00000343523, ENST00000357033, 
ENST00000359836, ENST00000378677, 
ENST00000378707, ENST00000474231, 
ENST00000541735, 
Fusion gene scores* DoF score12 X 12 X 4=57635 X 39 X 12=16380
# samples 1241
** MAII scorelog2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(41/16380*10)=-5.32016763702292
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointAPBB2(40823888)-DMD(31525570), # samples:1
Anticipated loss of major functional domain due to fusion event.APBB2-DMD seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneDMD

GO:0043043

peptide biosynthetic process

16000376


check buttonFusion gene breakpoints across APBB2 (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 DMD (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
ChimerDB4BRCATCGA-A2-A0T0-01AAPBB2chr4

40823888

-DMDchrX

31525570

-


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Fusion Gene ORF analysis for APBB2-DMD

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-5UTRENST00000295974ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000502841ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000504305ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000506352ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000508593ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000513140ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000543538ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
intron-5UTRENST00000511572ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-

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-DMD


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 APBB2-DMD


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/:40823888/:31525570)
- 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
APBB2

Q92870

DMD

P11532

FUNCTION: May modulate the internalization of amyloid-beta precursor protein.FUNCTION: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}.

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-DMD


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-DMD


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-DMD


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-DMD


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