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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:PRKCSH-MEF2A (FusionGDB2 ID:68355)

Fusion Gene Summary for PRKCSH-MEF2A

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKCSH-MEF2A
Fusion gene ID: 68355
HgeneTgene
Gene symbol

PRKCSH

MEF2A

Gene ID

5589

4205

Gene nameprotein kinase C substrate 80K-Hmyocyte enhancer factor 2A
SynonymsAGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60ADCAD1|RSRFC4|RSRFC9|mef2
Cytomap

19p13.2

15q26.3

Type of geneprotein-codingprotein-coding
Descriptionglucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda proteinmyocyte-specific enhancer factor 2AMADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)serum response factor-like protein 1
Modification date2020031320200313
UniProtAcc.

Q02078

Ensembl transtripts involved in fusion geneENST00000591462, ENST00000252455, 
ENST00000412601, ENST00000592741, 
ENST00000587327, ENST00000589838, 
ENST00000591510, 		ENST00000453228, 
ENST00000354410, ENST00000558856, 
ENST00000558812, ENST00000338042, 
ENST00000557785, ENST00000449277, 
ENST00000557942, 
Fusion gene scores* DoF score8 X 10 X 4=32011 X 10 X 5=550
# samples 1011
** MAII scorelog2(10/320*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/550*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKCSH [Title/Abstract] AND MEF2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRKCSH(11556212)-MEF2A(100250918), # samples:1
Anticipated loss of major functional domain due to fusion event.PRKCSH-MEF2A seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PRKCSH-MEF2A 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
HgenePRKCSH

GO:0006491

N-glycan processing

10929008

TgeneMEF2A

GO:0000122

negative regulation of transcription by RNA polymerase II

16484498

TgeneMEF2A

GO:0000165

MAPK cascade

9858528

TgeneMEF2A

GO:0006351

transcription, DNA-templated

16043483

TgeneMEF2A

GO:0010613

positive regulation of cardiac muscle hypertrophy

24161931

TgeneMEF2A

GO:0045944

positive regulation of transcription by RNA polymerase II

7760790|9858528|10748098|15466416|20590529|21468593

TgeneMEF2A

GO:0071277

cellular response to calcium ion

16484498


check buttonFusion gene breakpoints across PRKCSH (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 MEF2A (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/ABF742989PRKCSHchr19

11556212

-MEF2Achr15

100250918

+


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Fusion Gene ORF analysis for PRKCSH-MEF2A

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
Frame-shiftENST00000591462ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000591462ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000591462ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000252455ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000252455ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000252455ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000412601ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000412601ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000412601ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000592741ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000592741ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000592741ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000587327ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000587327ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000587327ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000589838ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
Frame-shiftENST00000589838ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
5CDS-intronENST00000589838ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-3CDSENST00000591510ENST00000453228PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-3CDSENST00000591510ENST00000354410PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000558856PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000558812PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000338042PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000557785PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000449277PRKCSHchr19

11556212

-MEF2Achr15

100250918

+
intron-intronENST00000591510ENST00000557942PRKCSHchr19

11556212

-MEF2Achr15

100250918

+

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 PRKCSH-MEF2A


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 PRKCSH-MEF2A


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MEF2A

Q02078

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous 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. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter. {ECO:0000269|PubMed:11904443, ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:16371476, ECO:0000269|PubMed:16484498, ECO:0000269|PubMed:16563226, ECO:0000269|PubMed:21468593, ECO:0000269|PubMed:9858528}.

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 PRKCSH-MEF2A


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 PRKCSH-MEF2A


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 PRKCSH-MEF2A


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 PRKCSH-MEF2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKCSHC0158683Polycystic liver disease3CTD_human;ORPHANET
HgenePRKCSHC0022680Polycystic Kidney Diseases1CTD_human
HgenePRKCSHC0887850Polycystic Kidney, Type 1 Autosomal Dominant Disease1GENOMICS_ENGLAND
HgenePRKCSHC1567435Polycystic Kidney - body part1CTD_human
TgeneMEF2AC0033975Psychotic Disorders1PSYGENET
TgeneMEF2AC0349204Nonorganic psychosis1PSYGENET