ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MEF2C

Gene summary

Gene information	Gene symbol	MEF2C
	Gene ID	4208
	Gene name	myocyte enhancer factor 2C
	Synonyms	C5DELq14.3\|DEL5q14.3
	Cytomap	5q14.3
	Type of gene	protein-coding
	Description	myocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C
	Modification date	20200329
	UniProtAcc	A0A024RAL6, A0A024RAL7, A0A0D9SET2, A0A0D9SFD0, A0A0D9SFV9, A0A0D9SG58, A0A0D9SGF3, A0A0D9SGI5, A0A0R4J2G5, A0A1B0GTW4, A0A1B0GV32, A0A1B0GVI4, D6R942, D6RB91, D6RC63, D6RCM6, D6RG14, D6RG21, D6RJ95, D6RJA7, D6RJG6, D8L7E9, Q06413,
	Context	- 29112298(MEF2C mRNA expression and cognitive function in Japanese patients with Alzheimer's disease)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
MEF2C	GO:0000165	MAPK cascade	9858528
MEF2C	GO:0006355	regulation of transcription, DNA-templated	24008018
MEF2C	GO:0010628	positive regulation of gene expression	9857019\|21556048
MEF2C	GO:0030279	negative regulation of ossification	17696759
MEF2C	GO:0045893	positive regulation of transcription, DNA-templated	17696759
MEF2C	GO:0045944	positive regulation of transcription by RNA polymerase II	8455629\|15486975\|16043483
MEF2C	GO:0071374	cellular response to parathyroid hormone stimulus	17696759
MEF2C	GO:0071560	cellular response to transforming growth factor beta stimulus	9770491
MEF2C	GO:1904706	negative regulation of vascular smooth muscle cell proliferation	28799067
MEF2C	GO:1904753	negative regulation of vascular associated smooth muscle cell migration	28799067
MEF2C	GO:2000727	positive regulation of cardiac muscle cell differentiation	9857019
MEF2C	GO:2001016	positive regulation of skeletal muscle cell differentiation	21556048

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Gene structures and expression levels for MEF2C

Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

ENSG00000081189

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
STG	UP	ENST00000510942.5	MEF2C-217:protein_coding:MEF2C	2.567674e+01	2.383145e+01	2.178018e-41	1.785648e-37
PG	DOWN	ENST00000511086.1	MEF2C-219:retained_intron:MEF2C	6.127852e+01	-1.279051e+00	1.324007e-09	5.158434e-07
PG	DOWN	ENST00000504921.6	MEF2C-209:protein_coding:MEF2C	2.040398e+02	-9.113842e-01	3.033064e-09	1.000107e-06
PG	UP	ENST00000627717.2	MEF2C-230:protein_coding:MEF2C	1.691127e+00	3.158027e+00	2.473292e-03	2.776776e-02
PG	DOWN	ENST00000513704.5	MEF2C-AS1-209:lncRNA:MEF2C	3.281373e+00	-8.304251e-01	3.791526e-03	3.769401e-02
CB	DOWN	ENST00000340208.9	MEF2C-201:protein_coding:MEF2C	1.584952e+02	-9.621163e-01	1.824589e-05	1.752790e-04
CB	UP	ENST00000515715.2	MEF2C-224:retained_intron:MEF2C	9.850283e-01	8.918716e-01	1.509382e-03	7.296466e-03
CB	UP	ENST00000511086.1	MEF2C-219:retained_intron:MEF2C	3.641867e+00	1.204572e+00	6.277453e-03	2.373238e-02
CB	UP	ENST00000506716.5	MEF2C-211:protein_coding:MEF2C	9.394987e-01	1.149506e+00	1.195580e-02	4.021062e-02
CB	UP	ENST00000626391.2	MEF2C-227:protein_coding:MEF2C	2.210680e+00	1.250442e+00	1.534329e-02	4.912095e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MEF2C

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_100000	chr5	88823863:88823927:88880924:88881022:88882955:88883227	88880924:88881022
exon_skip_103496	chr5	88761325:88761328:88804598:88804801:88823735:88823784	88804598:88804801
exon_skip_133037	chr5	88804770:88804801:88823735:88823930:88887502:88887590	88823735:88823930
exon_skip_136549	chr5	88751866:88752043:88761185:88761328:88804598:88804613	88761185:88761328
exon_skip_139469	chr5	88761023:88761125:88761269:88761328:88804598:88804613	88761269:88761328
exon_skip_148337	chr5	88823878:88823927:88880924:88881022:88882955:88882996	88880924:88881022
exon_skip_161583	chr5	88804770:88804801:88817805:88817831:88823735:88823784	88817805:88817831
exon_skip_166446	chr5	88804770:88804801:88823735:88823927:88882955:88882996	88823735:88823927
exon_skip_176185	chr5	88729218:88729347:88730211:88730234:88731729:88731827	88730211:88730234
exon_skip_187060	chr5	88823735:88823927:88880924:88881022:88882955:88882996	88880924:88881022
exon_skip_199950	chr5	88823863:88823927:88880924:88881022:88882955:88882996	88880924:88881022
exon_skip_203734	chr5	88751866:88752043:88761185:88761328:88804598:88804617	88761185:88761328
exon_skip_221789	chr5	88761023:88761125:88761269:88761328:88804598:88804617	88761269:88761328
exon_skip_229709	chr5	88751866:88752043:88760988:88761125:88804598:88804613	88760988:88761125
exon_skip_240648	chr5	88804770:88804801:88823735:88823930:88882955:88882996	88823735:88823930
exon_skip_250342	chr5	88760988:88761125:88761269:88761328:88804598:88804617	88761269:88761328
exon_skip_255320	chr5	88729336:88729347:88730211:88730234:88731729:88731827	88730211:88730234
exon_skip_281160	chr5	88823876:88823927:88880924:88881022:88882955:88882996	88880924:88881022
exon_skip_290289	chr5	88751866:88752043:88760988:88761125:88804598:88804617	88760988:88761125
exon_skip_295624	chr5	88823863:88823927:88839379:88839623:88882955:88882996	88839379:88839623
exon_skip_29995	chr5	88729218:88729347:88730211:88730234:88731729:88731799	88730211:88730234
exon_skip_35590	chr5	88823863:88823927:88882955:88882999:88883652:88883747	88882955:88882999
exon_skip_66333	chr5	88804770:88804801:88823735:88823927:88887502:88887590	88823735:88823927
exon_skip_6980	chr5	88731852:88731901:88749070:88749117:88751857:88752043	88749070:88749117
exon_skip_86230	chr5	88823863:88823927:88839379:88839623:88882955:88882973	88839379:88839623
exon_skip_86282	chr5	88804754:88804801:88817805:88817831:88823735:88823784	88817805:88817831
exon_skip_89258	chr5	88823863:88823927:88880924:88881022:88882955:88882973	88880924:88881022

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information	Tissue type	Avg(PSIs) in AD	Avg(PSIs) in control	Difference (PSI)	Adj. p-value
exon_skip_176185	MSBB_PG	7.602878e-01	9.011321e-01	-1.408443e-01	8.348502e-06

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Open reading frame (ORF) annotation in the exon skipping event for MEF2C

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000437473	88823735	88823927	3UTR-3CDS
ENST00000437473	88730211	88730234	In-frame
ENST00000504921	88730211	88730234	In-frame
ENST00000636294	88730211	88730234	In-frame
ENST00000437473	88749070	88749117	In-frame
ENST00000504921	88749070	88749117	In-frame
ENST00000636294	88749070	88749117	In-frame
ENST00000437473	88761185	88761328	In-frame
ENST00000504921	88761185	88761328	In-frame
ENST00000636294	88761185	88761328	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000437473	88730211	88730234	In-frame
ENST00000504921	88730211	88730234	In-frame
ENST00000636294	88730211	88730234	In-frame
ENST00000437473	88749070	88749117	In-frame
ENST00000504921	88749070	88749117	In-frame
ENST00000636294	88749070	88749117	In-frame
ENST00000437473	88761185	88761328	In-frame
ENST00000504921	88761185	88761328	In-frame
ENST00000636294	88761185	88761328	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000437473	88730211	88730234	In-frame
ENST00000504921	88730211	88730234	In-frame
ENST00000636294	88730211	88730234	In-frame
ENST00000437473	88749070	88749117	In-frame
ENST00000504921	88749070	88749117	In-frame
ENST00000636294	88749070	88749117	In-frame
ENST00000437473	88761185	88761328	In-frame
ENST00000504921	88761185	88761328	In-frame
ENST00000636294	88761185	88761328	In-frame
ENST00000437473	88804598	88804801	In-frame
ENST00000504921	88804598	88804801	In-frame
ENST00000636294	88804598	88804801	In-frame

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Infer the effects of exon skipping event on protein functional features for MEF2C

p-ENSG00000081189_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000437473	4357	473	88761185	88761328	910	1052	86	133
ENST00000504921	7578	473	88761185	88761328	911	1053	86	133
ENST00000636294	2593	473	88761185	88761328	456	598	86	133
ENST00000437473	4357	473	88749070	88749117	1241	1287	196	212
ENST00000504921	7578	473	88749070	88749117	1242	1288	196	212
ENST00000636294	2593	473	88749070	88749117	787	833	196	212

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000437473	4357	473	88761185	88761328	910	1052	86	133
ENST00000504921	7578	473	88761185	88761328	911	1053	86	133
ENST00000636294	2593	473	88761185	88761328	456	598	86	133
ENST00000437473	4357	473	88749070	88749117	1241	1287	196	212
ENST00000504921	7578	473	88749070	88749117	1242	1288	196	212
ENST00000636294	2593	473	88749070	88749117	787	833	196	212

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000437473	4357	473	88804598	88804801	706	908	18	85
ENST00000504921	7578	473	88804598	88804801	707	909	18	85
ENST00000636294	2593	473	88804598	88804801	252	454	18	85
ENST00000437473	4357	473	88761185	88761328	910	1052	86	133
ENST00000504921	7578	473	88761185	88761328	911	1053	86	133
ENST00000636294	2593	473	88761185	88761328	456	598	86	133
ENST00000437473	4357	473	88749070	88749117	1241	1287	196	212
ENST00000504921	7578	473	88749070	88749117	1242	1288	196	212
ENST00000636294	2593	473	88749070	88749117	787	833	196	212

Lost protein functional features of individual exon skipping events in ROSMAP.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C

Lost protein functional features of individual exon skipping events in MSBB.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C

Lost protein functional features of individual exon skipping events in Mayo.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q06413	18	85	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	18	85	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	18	85	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	18	85	4	31	Compositional bias	Note=Lys-rich (basic)
Q06413	18	85	4	31	Compositional bias	Note=Lys-rich (basic)
Q06413	18	85	4	31	Compositional bias	Note=Lys-rich (basic)
Q06413	18	85	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	18	85	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	18	85	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	18	85	3	57	Domain	Note=MADS-box;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00251
Q06413	18	85	3	57	Domain	Note=MADS-box;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00251
Q06413	18	85	3	57	Domain	Note=MADS-box;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00251
Q06413	18	85	59	59	Modified residue	Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	18	85	59	59	Modified residue	Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	18	85	59	59	Modified residue	Note=Phosphoserine%3B by CK2;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	18	85	36	36	Natural variant	ID=VAR_078228;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27864847;Dbxref=PMID:27864847
Q06413	18	85	36	36	Natural variant	ID=VAR_078228;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27864847;Dbxref=PMID:27864847
Q06413	18	85	36	36	Natural variant	ID=VAR_078228;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:27864847;Dbxref=PMID:27864847
Q06413	18	85	39	39	Natural variant	ID=VAR_078621;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23708187;Dbxref=dbSNP:rs796052729,PMID:237081
Q06413	18	85	39	39	Natural variant	ID=VAR_078621;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23708187;Dbxref=dbSNP:rs796052729,PMID:237081
Q06413	18	85	39	39	Natural variant	ID=VAR_078621;Note=Probable disease-associated mutation found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23708187;Dbxref=dbSNP:rs796052729,PMID:237081
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_043339;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	87	134	Alternative sequence	ID=VSP_046251;Note=In isoform 6. TLRKKGLNGCDSPDPDADDSVGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	107	134	Alternative sequence	ID=VSP_045478;Note=In isoform 5. VGHSPESEDKYRKINEDIDLMISRQRLC->ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	58	86	DNA binding	Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	98	98	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	106	106	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	110	110	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8CFN5
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	119	119	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15831463;Dbxref=PMID:15831463
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	116	116	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-119%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	86	133	119	119	Mutagenesis	Note=Reduced acetylation. Further reduction in acetylation%3B when associated with R-119. Complete loss of acetylation%2C 15%25 less transactivation activity and slightly reduced DNA binding%3B when associated with R-116%3B R-234%3B R-239%3B R-252 and R-2
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C
Q06413	196	212	1	473	Chain	ID=PRO_0000199433;Note=Myocyte-specific enhancer factor 2C

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3'-UTR located exon skipping events that lost miRNA binding sites in MEF2C

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for MEF2C

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for MEF2C

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEF2C

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for MEF2C

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RALYL	exon_skip_29995	4.992724e-01	1.480667e-09
FL	RBM24	exon_skip_176185	4.823659e-01	8.127778e-13
FL	RALYL	exon_skip_176185	5.941527e-01	4.327060e-20
HCC	ZNF326	exon_skip_176185	-5.531230e-01	1.473996e-22
HCC	RBM47	exon_skip_176185	-5.103245e-01	6.549043e-19
IFG	RBM47	exon_skip_176185	-4.848266e-01	8.928278e-03
IFG	RBM24	exon_skip_176185	5.003602e-01	6.695047e-03
IFG	RALYL	exon_skip_176185	5.737317e-01	1.412724e-03
PCC	ZNF326	exon_skip_255320	-4.531744e-01	1.003242e-11
PCC	RBM47	exon_skip_255320	-5.012005e-01	2.256418e-14
PCC	RALYL	exon_skip_255320	4.783428e-01	4.626779e-13
PG	RBM47	exon_skip_176185	-4.852263e-01	9.836506e-13
PG	RBM24	exon_skip_176185	5.149167e-01	2.156155e-14
PG	RALYL	exon_skip_176185	6.646081e-01	7.740183e-26
STG	RALYL	exon_skip_176185	5.150857e-01	5.354300e-07
TC	RBM24	exon_skip_29995	7.877228e-01	9.791717e-33
TC	RALYL	exon_skip_29995	8.829883e-01	3.862981e-50

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RelatedDrugs for MEF2C

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for MEF2C

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for MEF2C

Gene structures and expression levels for MEF2C

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MEF2C

Open reading frame (ORF) annotation in the exon skipping event for MEF2C

Infer the effects of exon skipping event on protein functional features for MEF2C

3'-UTR located exon skipping events that lost miRNA binding sites in MEF2C

SNVs in the skipped exons for MEF2C

AD stage-associated exon skippint events for MEF2C

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEF2C

Correlation with RNA binding proteins (RBPs) for MEF2C

RelatedDrugs for MEF2C

RelatedDiseases for MEF2C