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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q02078 | |
| Context | PubMed: MEF2A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for MEF2A from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MEF2A |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MEF2A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125276 | 15 | 100105621:100105874:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000560493.1 |
| exon_skip_125280 | 15 | 100106291:100106309:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000558983.1,ENST00000354410.5,ENST00000557942.1,ENST00000557785.1,ENST00000559036.1,ENST00000558856.1 |
| exon_skip_125284 | 15 | 100106291:100106309:100161095:100161285:100173182:100173378 | 100161095:100161285 | ENSG00000068305.13 | ENST00000558049.1 |
| exon_skip_125286 | 15 | 100106687:100106804:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000559903.1 |
| exon_skip_125297 | 15 | 100173182:100173378:100185765:100185969:100211527:100211659 | 100185765:100185969 | ENSG00000068305.13 | ENST00000453228.2,ENST00000338042.6,ENST00000558983.1,ENST00000557942.1,ENST00000557785.1 |
| exon_skip_125298 | 15 | 100173182:100173378:100185765:100185969:100211724:100211862 | 100185765:100185969 | ENSG00000068305.13 | ENST00000354410.5 |
| exon_skip_125308 | 15 | 100215603:100215663:100230445:100230633:100246933:100247060 | 100230445:100230633 | ENSG00000068305.13 | ENST00000453228.2,ENST00000449277.2,ENST00000354410.5,ENST00000557785.1 |
| exon_skip_125316 | 15 | 100230547:100230633:100243566:100243590:100246933:100247060 | 100243566:100243590 | ENSG00000068305.13 | ENST00000557942.1,ENST00000558812.1 |
| exon_skip_125318 | 15 | 100230445:100230633:100246933:100247060:100250838:100250965 | 100246933:100247060 | ENSG00000068305.13 | ENST00000453228.2,ENST00000449277.2,ENST00000354410.5,ENST00000557785.1 |
| exon_skip_125319 | 15 | 100246933:100247060:100250838:100250965:100252594:100253040 | 100250838:100250965 | ENSG00000068305.13 | ENST00000453228.2,ENST00000449277.2,ENST00000338042.6,ENST00000354410.5,ENST00000557942.1,ENST00000558812.1,ENST00000557785.1,ENST00000561125.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MEF2A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125276 | 15 | 100105621:100105874:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000560493.1 |
| exon_skip_125280 | 15 | 100106291:100106309:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000354410.5,ENST00000558856.1,ENST00000559036.1,ENST00000558983.1,ENST00000557785.1,ENST00000557942.1 |
| exon_skip_125284 | 15 | 100106291:100106309:100161095:100161285:100173182:100173378 | 100161095:100161285 | ENSG00000068305.13 | ENST00000558049.1 |
| exon_skip_125286 | 15 | 100106687:100106804:100138634:100138716:100173182:100173378 | 100138634:100138716 | ENSG00000068305.13 | ENST00000559903.1 |
| exon_skip_125297 | 15 | 100173182:100173378:100185765:100185969:100211527:100211659 | 100185765:100185969 | ENSG00000068305.13 | ENST00000453228.2,ENST00000338042.6,ENST00000558983.1,ENST00000557785.1,ENST00000557942.1 |
| exon_skip_125298 | 15 | 100173182:100173378:100185765:100185969:100211724:100211862 | 100185765:100185969 | ENSG00000068305.13 | ENST00000354410.5 |
| exon_skip_125308 | 15 | 100215603:100215663:100230445:100230633:100246933:100247060 | 100230445:100230633 | ENSG00000068305.13 | ENST00000453228.2,ENST00000354410.5,ENST00000557785.1,ENST00000449277.2 |
| exon_skip_125316 | 15 | 100230547:100230633:100243566:100243590:100246933:100247060 | 100243566:100243590 | ENSG00000068305.13 | ENST00000558812.1,ENST00000557942.1 |
| exon_skip_125318 | 15 | 100230445:100230633:100246933:100247060:100250838:100250965 | 100246933:100247060 | ENSG00000068305.13 | ENST00000453228.2,ENST00000354410.5,ENST00000557785.1,ENST00000449277.2 |
| exon_skip_125319 | 15 | 100246933:100247060:100250838:100250965:100252594:100253040 | 100250838:100250965 | ENSG00000068305.13 | ENST00000453228.2,ENST00000354410.5,ENST00000558812.1,ENST00000338042.6,ENST00000557785.1,ENST00000449277.2,ENST00000557942.1,ENST00000561125.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA 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 GTEx 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 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for MEF2A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125297 exon_skip_125298 | 100185766 | 100185969 | 100185806 | 100185806 | Frame_Shift_Del | C | - | p.A32fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_125297 exon_skip_125298 | 100185766 | 100185969 | 100185786 | 100185787 | Frame_Shift_Ins | - | T | p.K25fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_125297 exon_skip_125298 | 100185766 | 100185969 | 100185786 | 100185787 | Frame_Shift_Ins | - | T | p.W26fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| TGBC11TKB_STOMACH | 100185766 | 100185969 | 100185851 | 100185851 | Frame_Shift_Del | T | - | p.I47fs |
| MM415_SKIN | 100185766 | 100185969 | 100185823 | 100185823 | Missense_Mutation | C | T | p.L38F |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 100185766 | 100185969 | 100185832 | 100185832 | Missense_Mutation | T | G | p.C41G |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100185766 | 100185969 | 100185860 | 100185860 | Missense_Mutation | G | A | p.S50N |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100185766 | 100185969 | 100185866 | 100185866 | Missense_Mutation | A | G | p.N52S |
| HCT15_LARGE_INTESTINE | 100185766 | 100185969 | 100185886 | 100185886 | Missense_Mutation | A | G | p.S59G |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100185766 | 100185969 | 100185907 | 100185907 | Missense_Mutation | C | A | p.L66I |
| NCIH2126_LUNG | 100185766 | 100185969 | 100185957 | 100185958 | Missense_Mutation | GG | AT | p.D83Y |
| NCIH2126_LUNG | 100185766 | 100185969 | 100185958 | 100185958 | Missense_Mutation | G | T | p.D83Y |
| NCIH838_LUNG | 100185766 | 100185969 | 100185961 | 100185961 | Missense_Mutation | A | G | p.I84V |
| CAL62_THYROID | 100230446 | 100230633 | 100230522 | 100230522 | Missense_Mutation | G | A | p.M249I |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100230446 | 100230633 | 100230569 | 100230569 | Missense_Mutation | A | T | p.N265I |
| SEKI_SKIN | 100230446 | 100230633 | 100230571 | 100230571 | Missense_Mutation | A | C | p.S266R |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100246934 | 100247060 | 100246973 | 100246973 | Missense_Mutation | C | T | p.L300F |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100185766 | 100185969 | 100185784 | 100185784 | Nonsense_Mutation | A | T | p.K25* |
| FLO1_OESOPHAGUS | 100230446 | 100230633 | 100230589 | 100230589 | Nonsense_Mutation | C | T | p.R272* |
| HCC1143_BREAST | 100250839 | 100250965 | 100250964 | 100250964 | Splice_Site | G | T | p.V371F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEF2A |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEF2A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEF2A |
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RelatedDrugs for MEF2A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| MEF2A | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| MEF2A | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
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