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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:CEP72-EXOC3 (FusionGDB2 ID:15891)

Fusion Gene Summary for CEP72-EXOC3

check button Fusion gene summary
Fusion gene informationFusion gene name: CEP72-EXOC3
Fusion gene ID: 15891
HgeneTgene
Gene symbol

CEP72

EXOC3

Gene ID

55722

11336

Gene namecentrosomal protein 72exocyst complex component 3
Synonyms-SEC6|SEC6L1|Sec6p
Cytomap

5p15.33

5p15.33

Type of geneprotein-codingprotein-coding
Descriptioncentrosomal protein of 72 kDacentrosomal protein 72kDaexocyst complex component 3SEC6-like 1Sec 6 homologexocyst complex component Sec6
Modification date2020032720200313
UniProtAcc

Q9P209

O60645

Ensembl transtripts involved in fusion geneENST00000444221, ENST00000264935, 
ENST00000514507, 
ENST00000512944, 
ENST00000315013, ENST00000510441, 
Fusion gene scores* DoF score7 X 5 X 5=1756 X 7 X 5=210
# samples 87
** MAII scorelog2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CEP72 [Title/Abstract] AND EXOC3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCEP72(648031)-EXOC3(453485), # samples:3
Anticipated loss of major functional domain due to fusion event.CEP72-EXOC3 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

check buttonFusion gene breakpoints across CEP72 (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 EXOC3 (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
ChimerDB4ESCATCGA-V5-AASW-01ACEP72chr5

648031

-EXOC3chr5

453485

+
ChimerDB4ESCATCGA-V5-AASW-01ACEP72chr5

648031

+EXOC3chr5

453485

+
ChimerDB4ESCATCGA-V5-AASWCEP72chr5

648031

+EXOC3chr5

453484

+
ChimerDB4ESCATCGA-V5-AASWCEP72chr5

648031

+EXOC3chr5

453485

+


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Fusion Gene ORF analysis for CEP72-EXOC3

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-3CDSENST00000444221ENST00000512944CEP72chr5

648031

+EXOC3chr5

453485

+
3UTR-3CDSENST00000444221ENST00000512944CEP72chr5

648031

+EXOC3chr5

453484

+
3UTR-intronENST00000444221ENST00000315013CEP72chr5

648031

+EXOC3chr5

453485

+
3UTR-intronENST00000444221ENST00000315013CEP72chr5

648031

+EXOC3chr5

453484

+
3UTR-intronENST00000444221ENST00000510441CEP72chr5

648031

+EXOC3chr5

453485

+
3UTR-intronENST00000444221ENST00000510441CEP72chr5

648031

+EXOC3chr5

453484

+
5CDS-intronENST00000264935ENST00000315013CEP72chr5

648031

+EXOC3chr5

453485

+
5CDS-intronENST00000264935ENST00000315013CEP72chr5

648031

+EXOC3chr5

453484

+
5CDS-intronENST00000264935ENST00000510441CEP72chr5

648031

+EXOC3chr5

453485

+
5CDS-intronENST00000264935ENST00000510441CEP72chr5

648031

+EXOC3chr5

453484

+
Frame-shiftENST00000264935ENST00000512944CEP72chr5

648031

+EXOC3chr5

453485

+
Frame-shiftENST00000264935ENST00000512944CEP72chr5

648031

+EXOC3chr5

453484

+
intron-3CDSENST00000514507ENST00000512944CEP72chr5

648031

+EXOC3chr5

453485

+
intron-3CDSENST00000514507ENST00000512944CEP72chr5

648031

+EXOC3chr5

453484

+
intron-intronENST00000514507ENST00000315013CEP72chr5

648031

+EXOC3chr5

453485

+
intron-intronENST00000514507ENST00000315013CEP72chr5

648031

+EXOC3chr5

453484

+
intron-intronENST00000514507ENST00000510441CEP72chr5

648031

+EXOC3chr5

453485

+
intron-intronENST00000514507ENST00000510441CEP72chr5

648031

+EXOC3chr5

453484

+

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 CEP72-EXOC3


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)
CEP72chr5648031+EXOC3chr5453484+1.10E-151
CEP72chr5648031+EXOC3chr5453484+1.10E-151
CEP72chr5648031+EXOC3chr5453484+1.10E-151
CEP72chr5648031+EXOC3chr5453484+1.10E-151

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.
genomic feature of top 1%

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Fusion Protein Features for CEP72-EXOC3


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/:648031/:453485)
- 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
CEP72

Q9P209

EXOC3

O60645

FUNCTION: Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs) (PubMed:19536135). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). {ECO:0000269|PubMed:19536135, ECO:0000269|PubMed:26297806}.FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.

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 CEP72-EXOC3


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 CEP72-EXOC3


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 CEP72-EXOC3


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 CEP72-EXOC3


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