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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PIAS1-MEF2A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PIAS1-MEF2A
FusionPDB ID: 65104
FusionGDB2.0 ID: 65104
HgeneTgene
Gene symbol

PIAS1

MEF2A

Gene ID

8554

4205

Gene nameprotein inhibitor of activated STAT 1myocyte enhancer factor 2A
SynonymsDDXBP1|GBP|GU/RH-II|ZMIZ3ADCAD1|RSRFC4|RSRFC9|mef2
Cytomap

15q23

15q26.3

Type of geneprotein-codingprotein-coding
DescriptionE3 SUMO-protein ligase PIAS1AR interacting proteinDEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1DEAD/H box-binding protein 1E3 SUMO-protein transferase PIAS1RNA helicase II-binding proteingu-binding proteinprotein inhibitor of activated STAT prmyocyte-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 geneENST idsENST00000249636, ENST00000545237, 
ENST00000567417, 		ENST00000338042, 
ENST00000354410, ENST00000449277, 
ENST00000453228, ENST00000557785, 
ENST00000557942, ENST00000558812, 
ENST00000558856, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 12 X 7=109211 X 10 X 5=550
# samples 1511
** MAII scorelog2(15/1092*10)=-2.86393845042397
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 (manual curation of fusion genes in FusionPDB)

PubMed: PIAS1 [Title/Abstract] AND MEF2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PIAS1(68346688)-MEF2A(100211528), # samples:2
Anticipated loss of major functional domain due to fusion event.PIAS1-MEF2A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PIAS1-MEF2A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PIAS1-MEF2A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PIAS1-MEF2A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgenePIAS1

GO:0016925

protein sumoylation

18579533

HgenePIAS1

GO:0033235

positive regulation of protein sumoylation

17696781|21965678

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 PIAS1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4SARCTCGA-DX-A1KY-01APIAS1chr15

68346688

+MEF2Achr15

100211528

+
ChimerDB4SARCTCGA-DX-A1KY-01APIAS1chr15

68346688

+MEF2Achr15

100211725

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000249636PIAS1chr1568346688+ENST00000453228MEF2Achr15100211528+50591721481407419

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
ENST00000249636ENST00000453228PIAS1chr1568346688+MEF2Achr15100211528+0.0008683070.99913174

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>65104_65104_1_PIAS1-MEF2A_PIAS1_chr15_68346688_ENST00000249636_MEF2A_chr15_100211528_ENST00000453228_length(amino acids)=419AA_BP=8
MADSAELKTLRKKGLNGCESPDADDYFEHSPLSEDRFSKLNEDSDFIFKRGPPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAA
SSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPG
GGNLGMNSRKPDLRVVIPPSSKGMMPPLNTQRISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGM
LSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQ

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr15:68346688/chr15:100211528)
- 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
.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMEF2Achr15:68346688chr15:100211528ENST00000354410011141_1860500.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000354410011420_4460500.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST000003544100114_310500.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST0000044927719141_18618.0430.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST0000044927719420_44618.0430.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000453228210141_18686.0498.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000453228210420_44686.0498.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000557785311141_18686.0498.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000557785311420_44686.0498.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000557942312141_18686.0506.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000557942312420_44686.0506.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000558812110141_18618.0438.0Compositional biasNote=Ser/Thr-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST00000558812110420_44618.0438.0Compositional biasNote=Gln/Pro-rich
TgeneMEF2Achr15:68346688chr15:100211528ENST0000035441001158_860500.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST000004492771958_8618.0430.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST0000055881211058_8618.0438.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST000003544100113_570500.0DomainMADS-box

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114577_6348.0652.0Compositional biasNote=Ser-rich
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+11411_458.0652.0DomainSAP
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114124_2888.0652.0DomainPINIT
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+11419_238.0652.0MotifNote=LXXLL motif
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114368_3808.0652.0MotifNuclear localization signal
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+11456_648.0652.0MotifNuclear localization signal
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114462_4738.0652.0RegionSUMO1-binding
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114520_6158.0652.0RegionNote=4 X 4 AA repeats of N-T-S-L
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114520_5238.0652.0RepeatNote=1
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114557_5608.0652.0RepeatNote=2
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114598_6018.0652.0RepeatNote=3%3B approximate
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114612_6158.0652.0RepeatNote=4%3B approximate
HgenePIAS1chr15:68346688chr15:100211528ENST00000249636+114320_3978.0652.0Zinc fingerSP-RING-type
TgeneMEF2Achr15:68346688chr15:100211528ENST00000449277194_3118.0430.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST000004532282104_3186.0498.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST000005577853114_3186.0498.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST000005579423124_3186.0506.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST000005588121104_3118.0438.0Compositional biasNote=Lys-rich (basic)
TgeneMEF2Achr15:68346688chr15:100211528ENST0000045322821058_8686.0498.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST0000055778531158_8686.0498.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST0000055794231258_8686.0506.0DNA bindingMef2-type
TgeneMEF2Achr15:68346688chr15:100211528ENST00000449277193_5718.0430.0DomainMADS-box
TgeneMEF2Achr15:68346688chr15:100211528ENST000004532282103_5786.0498.0DomainMADS-box
TgeneMEF2Achr15:68346688chr15:100211528ENST000005577853113_5786.0498.0DomainMADS-box
TgeneMEF2Achr15:68346688chr15:100211528ENST000005579423123_5786.0506.0DomainMADS-box
TgeneMEF2Achr15:68346688chr15:100211528ENST000005588121103_5718.0438.0DomainMADS-box


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PIAS1
MEF2A


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PIAS1-MEF2A


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PIAS1-MEF2A


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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