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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:CCT3-MEF2D (FusionGDB2 ID:HG7203TG4209)

Fusion Gene Summary for CCT3-MEF2D

check button Fusion gene summary
Fusion gene informationFusion gene name: CCT3-MEF2D
Fusion gene ID: hg7203tg4209
HgeneTgene
Gene symbol

CCT3

MEF2D

Gene ID

7203

4209

Gene namechaperonin containing TCP1 subunit 3myocyte enhancer factor 2D
SynonymsCCT-gamma|CCTG|PIG48|TCP-1-gamma|TRIC5-
Cytomap('CCT3')('MEF2D')

1q22

1q22

Type of geneprotein-codingprotein-coding
DescriptionT-complex protein 1 subunit gammaT-complex protein 1, gamma subunitTCP1 (t-complex-1) ring complex, polypeptide 5chaperonin containing TCP1, subunit 3 (gamma)hTRiC5myocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide D
Modification date2020032720200322
UniProtAcc.

Q14814

Ensembl transtripts involved in fusion geneENST00000295688, ENST00000368259, 
ENST00000368261, ENST00000472765, 
ENST00000368256, 
Fusion gene scores* DoF score24 X 18 X 12=518412 X 8 X 7=672
# samples 2813
** MAII scorelog2(28/5184*10)=-4.21056698593966
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/672*10)=-2.36994960975031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCT3 [Title/Abstract] AND MEF2D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCT3(156303338)-MEF2D(156453222), # samples:1
Anticipated loss of major functional domain due to fusion event.CCT3-MEF2D seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CCT3-MEF2D seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CCT3-MEF2D seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CCT3-MEF2D seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneMEF2D

GO:0045944

positive regulation of transcription by RNA polymerase II

20590529



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
ChimerDB4OVTCGA-04-1364-01ACCT3chr1

156303338

-MEF2Dchr1

156453222

-


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Fusion Gene ORF analysis for CCT3-MEF2D

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-5UTRENST00000295688ENST00000340875CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000295688ENST00000348159CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000295688ENST00000353795CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000295688ENST00000368240CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368259ENST00000340875CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368259ENST00000348159CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368259ENST00000353795CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368259ENST00000368240CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368261ENST00000340875CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368261ENST00000348159CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368261ENST00000353795CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000368261ENST00000368240CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000472765ENST00000340875CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000472765ENST00000348159CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000472765ENST00000353795CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-5UTRENST00000472765ENST00000368240CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-intronENST00000295688ENST00000360595CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-intronENST00000368259ENST00000360595CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-intronENST00000368261ENST00000360595CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5CDS-intronENST00000472765ENST00000360595CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-3CDSENST00000368256ENST00000464356CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-5UTRENST00000368256ENST00000340875CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-5UTRENST00000368256ENST00000348159CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-5UTRENST00000368256ENST00000353795CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-5UTRENST00000368256ENST00000368240CCT3chr1

156303338

-MEF2Dchr1

156453222

-
5UTR-intronENST00000368256ENST00000360595CCT3chr1

156303338

-MEF2Dchr1

156453222

-
Frame-shiftENST00000295688ENST00000464356CCT3chr1

156303338

-MEF2Dchr1

156453222

-
Frame-shiftENST00000368259ENST00000464356CCT3chr1

156303338

-MEF2Dchr1

156453222

-
Frame-shiftENST00000368261ENST00000464356CCT3chr1

156303338

-MEF2Dchr1

156453222

-
Frame-shiftENST00000472765ENST00000464356CCT3chr1

156303338

-MEF2Dchr1

156453222

-

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 CCT3-MEF2D


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 CCT3-MEF2D


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/:156303338/:156453222)
- 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
.MEF2D

Q14814

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity). {ECO:0000250, ECO:0000269|PubMed:10849446, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:15743823, ECO:0000269|PubMed:15834131}.

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 CCT3-MEF2D


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 CCT3-MEF2D


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 CCT3-MEF2D


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 CCT3-MEF2D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCT3C0019193Hepatitis, Toxic1CTD_human
HgeneCCT3C0019693HIV Infections1CTD_human
HgeneCCT3C0860207Drug-Induced Liver Disease1CTD_human
HgeneCCT3C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCCT3C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCCT3C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCCT3C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneCCT3C4505456HIV Coinfection1CTD_human
TgeneC0338480Common Migraine1CTD_human