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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:CEP63-MEF2C (FusionGDB2 ID:HG80254TG4208)

Fusion Gene Summary for CEP63-MEF2C

check button Fusion gene summary
Fusion gene informationFusion gene name: CEP63-MEF2C
Fusion gene ID: hg80254tg4208
HgeneTgene
Gene symbol

CEP63

MEF2C

Gene ID

80254

4208

Gene namecentrosomal protein 63myocyte enhancer factor 2C
SynonymsSCKL6C5DELq14.3|DEL5q14.3
Cytomap('CEP63')('MEF2C')

3q22.2

5q14.3

Type of geneprotein-codingprotein-coding
Descriptioncentrosomal protein of 63 kDacentrosomal protein 63kDacentrosome protein CEP63myocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C
Modification date2020032820200329
UniProtAcc

Q96MT8

Q06413

Ensembl transtripts involved in fusion geneENST00000332047, ENST00000337090, 
ENST00000354446, ENST00000383229, 
ENST00000513612, ENST00000606977, 
ENST00000504013, 
Fusion gene scores* DoF score3 X 2 X 3=1811 X 9 X 4=396
# samples 311
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CEP63 [Title/Abstract] AND MEF2C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCEP63(134270854)-MEF2C(88119747), # 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
TgeneMEF2C

GO:0000165

MAPK cascade

9858528

TgeneMEF2C

GO:0006355

regulation of transcription, DNA-templated

24008018

TgeneMEF2C

GO:0010628

positive regulation of gene expression

9857019|21556048

TgeneMEF2C

GO:0030279

negative regulation of ossification

17696759

TgeneMEF2C

GO:0045893

positive regulation of transcription, DNA-templated

17696759

TgeneMEF2C

GO:0045944

positive regulation of transcription by RNA polymerase II

8455629|15486975|16043483

TgeneMEF2C

GO:0071374

cellular response to parathyroid hormone stimulus

17696759

TgeneMEF2C

GO:0071560

cellular response to transforming growth factor beta stimulus

9770491

TgeneMEF2C

GO:1904706

negative regulation of vascular smooth muscle cell proliferation

28799067

TgeneMEF2C

GO:1904753

negative regulation of vascular associated smooth muscle cell migration

28799067

TgeneMEF2C

GO:2000727

positive regulation of cardiac muscle cell differentiation

9857019

TgeneMEF2C

GO:2001016

positive regulation of skeletal muscle cell differentiation

21556048



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
ChimerDB4STADTCGA-BR-A4J9-01ACEP63chr3

134270854

+MEF2Cchr5

88119747

-


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Fusion Gene ORF analysis for CEP63-MEF2C

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-5UTRENST00000332047ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000332047ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000337090ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000354446ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000383229ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000513612ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-5UTRENST00000606977ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000332047ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000332047ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000337090ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000337090ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000354446ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000354446ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000383229ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000383229ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000513612ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000513612ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000606977ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
5CDS-intronENST00000606977ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000340208CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000424173CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000437473CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000504921CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000506554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000508569CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000510942CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000514015CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-5UTRENST00000504013ENST00000514028CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-intronENST00000504013ENST00000503554CEP63chr3

134270854

+MEF2Cchr5

88119747

-
intron-intronENST00000504013ENST00000539796CEP63chr3

134270854

+MEF2Cchr5

88119747

-

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 CEP63-MEF2C


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 CEP63-MEF2C


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/:134270854/:88119747)
- 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
CEP63

Q96MT8

MEF2C

Q06413

FUNCTION: Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398). {ECO:0000269|PubMed:21406398, ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806}.FUNCTION: Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1. {ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290, ECO:0000269|PubMed:9384584}.

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 CEP63-MEF2C


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 CEP63-MEF2C


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 CEP63-MEF2C


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 CEP63-MEF2C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCEP63C3553582SECKEL SYNDROME 63GENOMICS_ENGLAND
HgeneCEP63C0025958Microcephaly2CTD_human;GENOMICS_ENGLAND
HgeneCEP63C0431350Primary microcephaly1GENOMICS_ENGLAND
HgeneCEP63C0920296Developmental reading disorder1GENOMICS_ENGLAND
HgeneCEP63C1956147Microlissencephaly1CTD_human
HgeneCEP63C3853041Severe Congenital Microcephaly1CTD_human
TgeneC0014544Epilepsy2CTD_human
TgeneC0086237Epilepsy, Cryptogenic2CTD_human
TgeneC0236018Aura2CTD_human
TgeneC0751111Awakening Epilepsy2CTD_human
TgeneC3150700MENTAL RETARDATION, AUTOSOMAL DOMINANT 202CTD_human;GENOMICS_ENGLAND
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005899Body Rocking1CTD_human
TgeneC0018672Head Banging1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038273Stereotypic Movement Disorder1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC1510586Autism Spectrum Disorders1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC3714756Intellectual Disability1CTD_human