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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:AMOTL2-ADD3 (FusionGDB2 ID:4239)

Fusion Gene Summary for AMOTL2-ADD3

check button Fusion gene summary
Fusion gene informationFusion gene name: AMOTL2-ADD3
Fusion gene ID: 4239
HgeneTgene
Gene symbol

AMOTL2

ADD3

Gene ID

51421

120

Gene nameangiomotin like 2adducin 3
SynonymsLCCPADDL|CPSQ3
Cytomap

3q22.2

10q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptionangiomotin-like protein 2Leman coiled-coil proteingamma-adducinadducin 3 (gamma)adducin-like protein 70
Modification date2020032720200313
UniProtAcc

Q9Y2J4

Q9UEY8

Ensembl transtripts involved in fusion geneENST00000249883, ENST00000422605, 
ENST00000511759, ENST00000513145, 
ENST00000514516, 
ENST00000277900, 
ENST00000356080, ENST00000360162, 
ENST00000497125, 
Fusion gene scores* DoF score4 X 3 X 1=1213 X 11 X 6=858
# samples 413
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/858*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMOTL2 [Title/Abstract] AND ADD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMOTL2(134075089)-ADD3(111893426), # 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

check buttonFusion gene breakpoints across AMOTL2 (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 ADD3 (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/AC16484AMOTL2chr3

134075089

+ADD3chr10

111893426

+


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Fusion Gene ORF analysis for AMOTL2-ADD3

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-3UTRENST00000249883ENST00000277900AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000249883ENST00000356080AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000249883ENST00000360162AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000422605ENST00000277900AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000422605ENST00000356080AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000422605ENST00000360162AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000511759ENST00000277900AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000511759ENST00000356080AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000511759ENST00000360162AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000513145ENST00000277900AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000513145ENST00000356080AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000513145ENST00000360162AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000514516ENST00000277900AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000514516ENST00000356080AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-3UTRENST00000514516ENST00000360162AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-intronENST00000249883ENST00000497125AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-intronENST00000422605ENST00000497125AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-intronENST00000511759ENST00000497125AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-intronENST00000513145ENST00000497125AMOTL2chr3

134075089

+ADD3chr10

111893426

+
intron-intronENST00000514516ENST00000497125AMOTL2chr3

134075089

+ADD3chr10

111893426

+

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 AMOTL2-ADD3


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 AMOTL2-ADD3


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/:134075089/:111893426)
- 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
AMOTL2

Q9Y2J4

ADD3

Q9UEY8

FUNCTION: Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC. {ECO:0000269|PubMed:17293535, ECO:0000269|PubMed:21937427, ECO:0000269|PubMed:22362771}.FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. {ECO:0000269|PubMed:23836506}.

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 AMOTL2-ADD3


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 AMOTL2-ADD3


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 AMOTL2-ADD3


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 AMOTL2-ADD3


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