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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:CCNC-GATA3 (FusionGDB2 ID:HG892TG2625)

Fusion Gene Summary for CCNC-GATA3

check button Fusion gene summary
Fusion gene informationFusion gene name: CCNC-GATA3
Fusion gene ID: hg892tg2625
HgeneTgene
Gene symbol

CCNC

GATA3

Gene ID

892

2625

Gene namecyclin CGATA binding protein 3
SynonymsCycC|SRB11|hSRB11HDR|HDRS
Cytomap('CCNC')('GATA3')

6q16.2

10p14

Type of geneprotein-codingprotein-coding
Descriptioncyclin-CSRB11 homologtrans-acting T-cell-specific transcription factor GATA-3GATA-binding factor 3
Modification date2020031320200322
UniProtAcc

P24863

P23771

Ensembl transtripts involved in fusion geneENST00000369220, ENST00000482541, 
ENST00000518714, ENST00000520371, 
ENST00000520429, ENST00000521017, 
ENST00000523799, ENST00000523985, 
Fusion gene scores* DoF score5 X 4 X 3=603 X 3 X 2=18
# samples 53
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCNC [Title/Abstract] AND GATA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCNC(99997162)-GATA3(8116847), # 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
TgeneGATA3

GO:0033600

negative regulation of mammary gland epithelial cell proliferation

19483726

TgeneGATA3

GO:0045893

positive regulation of transcription, DNA-templated

19723756|19805038

TgeneGATA3

GO:0045944

positive regulation of transcription by RNA polymerase II

19232384|20189993|20484083

TgeneGATA3

GO:0060231

mesenchymal to epithelial transition

20189993

TgeneGATA3

GO:0072676

lymphocyte migration

19805038

TgeneGATA3

GO:2000664

positive regulation of interleukin-5 secretion

20554961

TgeneGATA3

GO:2000667

positive regulation of interleukin-13 secretion

20554961



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


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Fusion Gene ORF analysis for CCNC-GATA3

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

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 CCNC-GATA3


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)


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Fusion Protein Features for CCNC-GATA3


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/:99997162/:8116847)
- 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
CCNC

P24863

GATA3

P23771

FUNCTION: Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. {ECO:0000269|PubMed:16595664, ECO:0000269|PubMed:8700522}.FUNCTION: Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. {ECO:0000269|PubMed:23824597}.

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 CCNC-GATA3


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 CCNC-GATA3


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 CCNC-GATA3


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 CCNC-GATA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1840333Barakat syndrome16CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0006413Burkitt Lymphoma3ORPHANET
TgeneC1292769Precursor B-cell lymphoblastic leukemia3ORPHANET
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0014457Eosinophilia1CTD_human
TgeneC0014458Eosinophilia, Tropical1CTD_human
TgeneC0019829Hodgkin Disease1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneC0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0025568Metaplasia1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0152266Mixed Cellularity Hodgkin Lymphoma1CTD_human
TgeneC0152267Hodgkin lymphoma, lymphocyte depletion1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0220597Adult Hodgkin Lymphoma1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1266194Lymphocyte Rich Classical Hodgkin Lymphoma1CTD_human
TgeneC1334968Nodular Lymphocyte Predominant Hodgkin Lymphoma1CTD_human
TgeneC2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human