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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:G2E3-CDKN2AIP (FusionGDB2 ID:31980)

Fusion Gene Summary for G2E3-CDKN2AIP

check button Fusion gene summary
Fusion gene informationFusion gene name: G2E3-CDKN2AIP
Fusion gene ID: 31980
HgeneTgene
Gene symbol

G2E3

CDKN2AIP

Gene ID

55632

55602

Gene nameG2/M-phase specific E3 ubiquitin protein ligaseCDKN2A interacting protein
SynonymsKIAA1333|PHF7BCARF
Cytomap

14q12

4q35.1

Type of geneprotein-codingprotein-coding
DescriptionG2/M phase-specific E3 ubiquitin-protein ligaseG2/M phase-specific HECT-type E3 ubiquitin transferaseG2/M-phase specific E3 ubiquitin ligasePHD finger protein 7BCDKN2A-interacting proteincollaborates/cooperates with ARF (alternate reading frame) proteincollaborator of ARF
Modification date2020031320200313
UniProtAcc

Q7L622

Q96HQ2

Ensembl transtripts involved in fusion geneENST00000206595, ENST00000438909, 
ENST00000544007, ENST00000553504, 
ENST00000302350, ENST00000504169, 
ENST00000506835, ENST00000510928, 
Fusion gene scores* DoF score7 X 4 X 5=1401 X 1 X 1=1
# samples 71
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: G2E3 [Title/Abstract] AND CDKN2AIP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointG2E3(31086454)-CDKN2AIP(184369212), # 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
TgeneCDKN2AIP

GO:0006974

cellular response to DNA damage stimulus

24825908


check buttonFusion gene breakpoints across G2E3 (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 CDKN2AIP (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/AAV751440G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+


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Fusion Gene ORF analysis for G2E3-CDKN2AIP

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
3UTR-3UTRENST00000206595ENST00000302350G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
3UTR-3UTRENST00000206595ENST00000504169G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
3UTR-intronENST00000206595ENST00000506835G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
3UTR-intronENST00000206595ENST00000510928G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000438909ENST00000302350G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000438909ENST00000504169G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000544007ENST00000302350G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000544007ENST00000504169G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000553504ENST00000302350G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-3UTRENST00000553504ENST00000504169G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000438909ENST00000506835G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000438909ENST00000510928G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000544007ENST00000506835G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000544007ENST00000510928G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000553504ENST00000506835G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+
intron-intronENST00000553504ENST00000510928G2E3chr14

31086454

-CDKN2AIPchr4

184369212

+

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 G2E3-CDKN2AIP


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 G2E3-CDKN2AIP


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/:31086454/:184369212)
- 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
G2E3

Q7L622

CDKN2AIP

Q96HQ2

FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. {ECO:0000269|PubMed:18511420}.

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 G2E3-CDKN2AIP


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 G2E3-CDKN2AIP


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 G2E3-CDKN2AIP


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 G2E3-CDKN2AIP


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