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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MEF2A |
 Gene summary |
| Gene information | Gene symbol | MEF2A | Gene ID | 4205 |
| Gene name | myocyte enhancer factor 2A | |
| Synonyms | ADCAD1|RSRFC4|RSRFC9|mef2 | |
| Cytomap | 15q26.3 | |
| Type of gene | protein-coding | |
| Description | myocyte-specific enhancer factor 2AMADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)serum response factor-like protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MEF2A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16484498 |
| MEF2A | GO:0000165 | MAPK cascade | 9858528 |
| MEF2A | GO:0006351 | transcription, DNA-templated | 16043483 |
| MEF2A | GO:0010613 | positive regulation of cardiac muscle hypertrophy | 24161931 |
| MEF2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7760790|9858528|10748098|15466416|20590529|21468593 |
| MEF2A | GO:0071277 | cellular response to calcium ion | 16484498 |
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Gene structures and expression levels for MEF2A |
| 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. |
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ENSG00000068305
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000557785.5 | MEF2A-204:protein_coding:MEF2A | 1.233904e+01 | 2.270767e+01 | 4.628641e-22 | 8.825095e-19 |
| CB | DOWN | ENST00000449277.6 | MEF2A-203:protein_coding:MEF2A | 6.637705e+02 | -8.353101e-01 | 1.558042e-04 | 1.079544e-03 |
| CB | UP | ENST00000338042.10 | MEF2A-201:protein_coding:MEF2A | 6.995041e+02 | 1.201766e+00 | 1.789504e-04 | 1.211514e-03 |
| 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 MEF2A |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_111315 | chr15 | 99633128:99633173:99645561:99645764:99671520:99671657 | 99645561:99645764 |
| exon_skip_137045 | chr15 | 99566087:99566104:99598430:99598511:99632978:99633056 | 99598430:99598511 |
| exon_skip_140742 | chr15 | 99566483:99566599:99598430:99598511:99632978:99633173 | 99598430:99598511 |
| exon_skip_146601 | chr15 | 99566087:99566104:99620891:99621080:99632978:99633173 | 99620891:99621080 |
| exon_skip_163039 | chr15 | 99633128:99633173:99645561:99645764:99671323:99671454 | 99645561:99645764 |
| exon_skip_190374 | chr15 | 99706729:99706855:99710634:99710760:99712390:99712835 | 99710634:99710760 |
| exon_skip_191704 | chr15 | 99632978:99633173:99645561:99645764:99671520:99671657 | 99645561:99645764 |
| exon_skip_203331 | chr15 | 99566087:99566104:99598430:99598511:99632978:99633173 | 99598430:99598511 |
| exon_skip_219718 | chr15 | 99690241:99690428:99703362:99703385:99706729:99706855 | 99703362:99703385 |
| exon_skip_249283 | chr15 | 99690241:99690428:99706729:99706855:99710634:99710760 | 99706729:99706855 |
| exon_skip_283848 | chr15 | 99690315:99690428:99703362:99703385:99706729:99706855 | 99703362:99703385 |
| exon_skip_89151 | chr15 | 99565987:99566104:99620891:99621080:99632978:99633173 | 99620891:99621080 |
| exon_skip_95730 | chr15 | 99632978:99633173:99645561:99645764:99671323:99671454 | 99645561:99645764 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_219718 | Mayo_CB | 2.895122e-01 | 3.942647e-01 | -1.047525e-01 | 1.344808e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for MEF2A |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MEF2A |
p-ENSG00000068305_img4.png |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MEF2A |
| 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 MEF2A |
| - 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 MEF2A |
| 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 MEF2A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_219718 | rs12913830 | chr15:99694701 | 4.591511e-05 | 4.689104e-03 |
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Correlation with RNA binding proteins (RBPs) for MEF2A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM3 | exon_skip_203331 | 4.574093e-01 | 5.735549e-09 |
| CB | TRA2A | exon_skip_203331 | -5.620310e-01 | 1.293330e-13 |
| CB | NUP42 | exon_skip_203331 | 5.241696e-01 | 9.522538e-12 |
| CB | PTBP1 | exon_skip_203331 | -4.878123e-01 | 3.686438e-10 |
| CB | FXR2 | exon_skip_191704 | -4.154933e-01 | 4.904262e-07 |
| CB | KHSRP | exon_skip_191704 | -4.368560e-01 | 1.053901e-07 |
| FL | SRSF1 | exon_skip_219718 | 4.028208e-01 | 9.982028e-09 |
| HCC | RBM3 | exon_skip_203331 | 4.643861e-01 | 2.937503e-15 |
| HCC | TRA2A | exon_skip_219718 | -4.552636e-01 | 2.534971e-15 |
| HCC | SRSF1 | exon_skip_219718 | -4.597041e-01 | 1.254982e-15 |
| PCC | RBM3 | exon_skip_203331 | 5.497812e-01 | 7.089816e-17 |
| PG | RBM3 | exon_skip_203331 | 4.140132e-01 | 3.574063e-08 |
| PG | SRSF1 | exon_skip_219718 | 5.168333e-01 | 1.912343e-12 |
| TC | RBM3 | exon_skip_137045 | 5.045281e-01 | 7.240330e-11 |
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RelatedDrugs for MEF2A |
| 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 MEF2A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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