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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 MEF2D |
 Gene summary |
| Gene information | Gene symbol | MEF2D | Gene ID | 4209 |
| Gene name | myocyte enhancer factor 2D | |
| Synonyms | - | |
| Cytomap | 1q22 | |
| Type of gene | protein-coding | |
| Description | myocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide D | |
| Modification date | 20180523 | |
| UniProtAcc | Q14814 | |
| Context | PubMed: MEF2D [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 |
| MEF2D | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20590529 |
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Exon skipping events across known transcript of Ensembl for MEF2D 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 MEF2D |
| 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 MEF2D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_33313 | 1 | 156437419:156437448:156437784:156438091:156438571:156438812 | 156437784:156438091 | ENSG00000116604.13 | ENST00000464356.2,ENST00000475587.2,ENST00000360595.3,ENST00000368240.2,ENST00000348159.4,ENST00000340875.5,ENST00000353795.3 |
| exon_skip_33314 | 1 | 156438571:156438812:156444899:156445029:156446803:156446885 | 156444899:156445029 | ENSG00000116604.13 | ENST00000464356.2,ENST00000360595.3,ENST00000368240.2 |
| exon_skip_33317 | 1 | 156444899:156445029:156446285:156446306:156446803:156446885 | 156446285:156446306 | ENSG00000116604.13 | ENST00000348159.4,ENST00000340875.5,ENST00000353795.3 |
| exon_skip_33318 | 1 | 156446803:156446994:156449081:156449138:156449377:156449572 | 156449081:156449138 | ENSG00000116604.13 | ENST00000493077.1,ENST00000464356.2,ENST00000360595.3,ENST00000368240.2,ENST00000348159.4,ENST00000340875.5,ENST00000353795.3 |
| exon_skip_33324 | 1 | 156449081:156449138:156449377:156449588:156450625:156450763 | 156449377:156449588 | ENSG00000116604.13 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 |
| exon_skip_33325 | 1 | 156449081:156449138:156449377:156449588:156452228:156452432 | 156449377:156449588 | ENSG00000116604.13 | ENST00000353795.3 |
| exon_skip_33329 | 1 | 156449377:156449588:156450434:156450569:156452228:156452432 | 156450434:156450569 | ENSG00000116604.13 | ENST00000464356.2,ENST00000340875.5 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENSG00000116604.13 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 |
| exon_skip_33337 | 1 | 156453052:156453222:156469223:156469352:156470277:156470529 | 156469223:156469352 | ENSG00000116604.13 | ENST00000489057.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MEF2D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_33313 | 1 | 156437419:156437448:156437784:156438091:156438571:156438812 | 156437784:156438091 | ENSG00000116604.13 | ENST00000464356.2,ENST00000348159.4,ENST00000340875.5,ENST00000368240.2,ENST00000353795.3,ENST00000360595.3,ENST00000475587.2 |
| exon_skip_33314 | 1 | 156438571:156438812:156444899:156445029:156446803:156446885 | 156444899:156445029 | ENSG00000116604.13 | ENST00000464356.2,ENST00000368240.2,ENST00000360595.3 |
| exon_skip_33317 | 1 | 156444899:156445029:156446285:156446306:156446803:156446885 | 156446285:156446306 | ENSG00000116604.13 | ENST00000348159.4,ENST00000340875.5,ENST00000353795.3 |
| exon_skip_33318 | 1 | 156446803:156446994:156449081:156449138:156449377:156449572 | 156449081:156449138 | ENSG00000116604.13 | ENST00000464356.2,ENST00000348159.4,ENST00000340875.5,ENST00000368240.2,ENST00000353795.3,ENST00000360595.3,ENST00000493077.1 |
| exon_skip_33324 | 1 | 156449081:156449138:156449377:156449588:156450625:156450763 | 156449377:156449588 | ENSG00000116604.13 | ENST00000348159.4,ENST00000368240.2,ENST00000360595.3 |
| exon_skip_33329 | 1 | 156449377:156449588:156450434:156450569:156452228:156452432 | 156450434:156450569 | ENSG00000116604.13 | ENST00000464356.2,ENST00000340875.5 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENSG00000116604.13 | ENST00000348159.4,ENST00000368240.2,ENST00000360595.3 |
| exon_skip_33337 | 1 | 156453052:156453222:156469223:156469352:156470277:156470529 | 156469223:156469352 | ENSG00000116604.13 | ENST00000489057.1 |
| 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 MEF2D |
| 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 |
| ENST00000348159 | 156437784 | 156438091 | Frame-shift |
| ENST00000348159 | 156449377 | 156449588 | Frame-shift |
| ENST00000348159 | 156446285 | 156446306 | In-frame |
| ENST00000348159 | 156449081 | 156449138 | In-frame |
| ENST00000348159 | 156450625 | 156450763 | In-frame |
| 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 |
| ENST00000348159 | 156437784 | 156438091 | Frame-shift |
| ENST00000348159 | 156449377 | 156449588 | Frame-shift |
| ENST00000348159 | 156446285 | 156446306 | In-frame |
| ENST00000348159 | 156449081 | 156449138 | In-frame |
| ENST00000348159 | 156450625 | 156450763 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MEF2D |
| 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 |
| ENST00000348159 | 5982 | 521 | 156450625 | 156450763 | 740 | 877 | 86 | 132 |
| ENST00000348159 | 5982 | 521 | 156449081 | 156449138 | 1089 | 1145 | 202 | 221 |
| 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 |
| ENST00000348159 | 5982 | 521 | 156450625 | 156450763 | 740 | 877 | 86 | 132 |
| ENST00000348159 | 5982 | 521 | 156449081 | 156449138 | 1089 | 1145 | 202 | 221 |
| 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 |
| Q14814 | 86 | 132 | 87 | 132 | Alternative sequence | ID=VSP_006251;Note=In isoform MEF2D0B and isoform MEF2D00. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8269842;Dbxref=PMID:8269842 |
| Q14814 | 86 | 132 | 87 | 132 | Alternative sequence | ID=VSP_006250;Note=In isoform MEF2DA'B and isoform MEF2DA'0. TLRKKGFNGCDSPEPDGEDSLEQSPLLEDKYRRASEELDGLFRRYG->ALHKKHRECESPEVDEVFALTPQTEEKYKKIDEEFDKMMQSYRLA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8269842;Dbxref=PMID:8269842 |
| Q14814 | 86 | 132 | 1 | 521 | Chain | ID=PRO_0000199435;Note=Myocyte-specific enhancer factor 2D |
| Q14814 | 86 | 132 | 58 | 86 | DNA binding | Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14814 | 86 | 132 | 98 | 98 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 106 | 106 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 110 | 110 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 121 | 121 | Modified residue | Note=Phosphoserine%3B by PKA;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:10617605;Dbxref=PMID:23186163,PMID:10617605 |
| Q14814 | 202 | 221 | 1 | 521 | Chain | ID=PRO_0000199435;Note=Myocyte-specific enhancer factor 2D |
| 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 |
| Q14814 | 86 | 132 | 87 | 132 | Alternative sequence | ID=VSP_006251;Note=In isoform MEF2D0B and isoform MEF2D00. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8269842;Dbxref=PMID:8269842 |
| Q14814 | 86 | 132 | 87 | 132 | Alternative sequence | ID=VSP_006250;Note=In isoform MEF2DA'B and isoform MEF2DA'0. TLRKKGFNGCDSPEPDGEDSLEQSPLLEDKYRRASEELDGLFRRYG->ALHKKHRECESPEVDEVFALTPQTEEKYKKIDEEFDKMMQSYRLA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8269842;Dbxref=PMID:8269842 |
| Q14814 | 86 | 132 | 1 | 521 | Chain | ID=PRO_0000199435;Note=Myocyte-specific enhancer factor 2D |
| Q14814 | 86 | 132 | 58 | 86 | DNA binding | Note=Mef2-type;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14814 | 86 | 132 | 98 | 98 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 106 | 106 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 110 | 110 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63943 |
| Q14814 | 86 | 132 | 121 | 121 | Modified residue | Note=Phosphoserine%3B by PKA;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:10617605;Dbxref=PMID:23186163,PMID:10617605 |
| Q14814 | 202 | 221 | 1 | 521 | Chain | ID=PRO_0000199435;Note=Myocyte-specific enhancer factor 2D |
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SNVs in the skipped exons for MEF2D |
| - 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. |
MEF2D_STAD_exon_skip_33313_psi_boxplot.png |
| - 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 |
| STAD | TCGA-BR-8487-01 | exon_skip_33313 | 156437785 | 156438091 | 156438036 | 156438036 | Frame_Shift_Del | G | - | p.H435fs |
| LIHC | TCGA-BC-A3KG-01 | 156444900 | 156445029 | 156444977 | 156444977 | Frame_Shift_Del | G | - | p.P310fs | |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_33318 | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_33318 | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_33318 | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| STAD | TCGA-BR-7851-01 | exon_skip_33318 | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_33325 exon_skip_33324 | 156449378 | 156449588 | 156449441 | 156449441 | Frame_Shift_Del | G | - | p.Q183fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_33325 exon_skip_33324 | 156449378 | 156449588 | 156449441 | 156449441 | Frame_Shift_Del | G | - | p.Q183fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_33325 exon_skip_33324 | 156449378 | 156449588 | 156449462 | 156449462 | Frame_Shift_Del | C | - | p.D175fs |
| CESC | TCGA-EA-A3HU-01 | exon_skip_33329 | 156450435 | 156450569 | 156450503 | 156450503 | Frame_Shift_Del | G | - | p.Q109fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_33329 | 156450435 | 156450569 | 156450512 | 156450512 | Frame_Shift_Del | G | - | p.L106fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_33330 | 156450626 | 156450763 | 156450760 | 156450760 | Frame_Shift_Del | G | - | p.L88fs |
| COAD | TCGA-AA-3713-01 | exon_skip_33325 exon_skip_33324 | 156449378 | 156449588 | 156449440 | 156449441 | Frame_Shift_Ins | - | G | p.Q182fs |
| LUSC | TCGA-60-2710-01 | exon_skip_33330 | 156450626 | 156450763 | 156450724 | 156450724 | Nonsense_Mutation | C | A | p.E100* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EA-A3HU-01 |
| Cancer type: CESC | |
| ESID: exon_skip_33329 | |
| Skipped exon start: 156450435 | |
| Skipped exon end: 156450569 | |
| Mutation start: 156450503 | |
| Mutation end: 156450503 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q109fs | |
exon_skip_33329_CESC_TCGA-EA-A3HU-01.png | |
exon_skip_372631_CESC_TCGA-EA-A3HU-01.png | |
exon_skip_431603_CESC_TCGA-EA-A3HU-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_33324 | |
| Skipped exon start: 156449378 | |
| Skipped exon end: 156449588 | |
| Mutation start: 156449441 | |
| Mutation end: 156449441 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q183fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_33329 | |
| Skipped exon start: 156450435 | |
| Skipped exon end: 156450569 | |
| Mutation start: 156450512 | |
| Mutation end: 156450512 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L106fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_130099_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_131697_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133542_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_133548_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_134792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135418_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135741_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_135820_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146776_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146807_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14772_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148738_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_148740_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14897_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_14899_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_15042_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_150985_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_153494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_155021_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_17317_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19048_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_1906_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_2523_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_26461_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27038_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_27065_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_283878_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_284109_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_288112_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290222_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290223_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29032_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_290_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291361_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_291973_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_29487_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_295443_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_297892_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_299242_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30164_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30165_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302094_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_302095_LIHC_TCGA-DD-A1EG-01.png | |
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 | Sample: TCGA-BR-8487-01 |
| Cancer type: STAD | |
| ESID: exon_skip_33313 | |
| Skipped exon start: 156437785 | |
| Skipped exon end: 156438091 | |
| Mutation start: 156438036 | |
| Mutation end: 156438036 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.H435fs | |
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| - 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 |
| 22RV1_PROSTATE | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| NCIH630_LARGE_INTESTINE | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| HEC108_ENDOMETRIUM | 156449082 | 156449138 | 156449123 | 156449123 | Frame_Shift_Del | C | - | p.G208fs |
| 2313287_STOMACH | 156450626 | 156450763 | 156450688 | 156450688 | Frame_Shift_Del | G | - | p.L113fs |
| SNU398_LIVER | 156437785 | 156438091 | 156437790 | 156437790 | Missense_Mutation | T | C | p.T517A |
| SNU1040_LARGE_INTESTINE | 156437785 | 156438091 | 156437798 | 156437798 | Missense_Mutation | C | T | p.R514Q |
| SNU1040_LARGE_INTESTINE | 156437785 | 156438091 | 156437799 | 156437799 | Missense_Mutation | G | A | p.R514W |
| 2313287_STOMACH | 156437785 | 156438091 | 156437847 | 156437847 | Missense_Mutation | G | A | p.R498C |
| HEC1_ENDOMETRIUM | 156437785 | 156438091 | 156437865 | 156437865 | Missense_Mutation | G | A | p.P492S |
| HEC1B_ENDOMETRIUM | 156437785 | 156438091 | 156437865 | 156437865 | Missense_Mutation | G | A | p.P492S |
| SNUC2A_LARGE_INTESTINE | 156437785 | 156438091 | 156437919 | 156437919 | Missense_Mutation | C | A | p.A474S |
| NCIH1568_LUNG | 156437785 | 156438091 | 156437934 | 156437934 | Missense_Mutation | C | A | p.G469C |
| MEWO_SKIN | 156437785 | 156438091 | 156437961 | 156437961 | Missense_Mutation | G | A | p.P460S |
| SARC9371_BONE | 156437785 | 156438091 | 156437961 | 156437961 | Missense_Mutation | G | A | p.P460S |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 156437785 | 156438091 | 156437993 | 156437993 | Missense_Mutation | C | T | p.R449H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 156437785 | 156438091 | 156438011 | 156438011 | Missense_Mutation | A | G | p.V443A |
| HCC827_LUNG | 156437785 | 156438091 | 156438026 | 156438026 | Missense_Mutation | A | T | p.I438N |
| RKN_SOFT_TISSUE | 156437785 | 156438091 | 156438045 | 156438045 | Missense_Mutation | T | G | p.T432P |
| HCT116_LARGE_INTESTINE | 156437785 | 156438091 | 156438057 | 156438057 | Missense_Mutation | G | T | p.L428I |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 156444900 | 156445029 | 156444959 | 156444959 | Missense_Mutation | G | A | p.T316M |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 156444900 | 156445029 | 156444977 | 156444977 | Missense_Mutation | G | A | p.P310L |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 156444900 | 156445029 | 156444989 | 156444989 | Missense_Mutation | G | A | p.S306L |
| EMCBAC1_LUNG | 156444900 | 156445029 | 156445025 | 156445025 | Missense_Mutation | T | G | p.N294T |
| HEC6_ENDOMETRIUM | 156449378 | 156449588 | 156449399 | 156449399 | Missense_Mutation | G | A | p.P196S |
| MEWO_SKIN | 156449378 | 156449588 | 156449444 | 156449444 | Missense_Mutation | G | A | p.P181S |
| WM793_SKIN | 156449378 | 156449588 | 156449470 | 156449470 | Missense_Mutation | G | A | p.S172F |
| SKUT1_SOFT_TISSUE | 156449378 | 156449588 | 156449504 | 156449504 | Missense_Mutation | C | T | p.G161S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 156449378 | 156449588 | 156449585 | 156449585 | Missense_Mutation | T | A | p.T134S |
| MEWO_SKIN | 156450626 | 156450763 | 156450720 | 156450720 | Missense_Mutation | G | A | p.P101L |
| OVK18_OVARY | 156450626 | 156450763 | 156450739 | 156450739 | Missense_Mutation | C | A | p.G95C |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 156450626 | 156450763 | 156450760 | 156450760 | Missense_Mutation | G | T | p.L88M |
| SNU1040_LARGE_INTESTINE | 156437785 | 156438091 | 156437798 | 156437799 | Nonsense_Mutation | CG | TA | p.R514* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEF2D |
| 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 |
| exon_skip_33337 | 1 | 156453052:156453222:156469223:156469352:156470277:156470529 | 156469223:156469352 | ENST00000489057.1 | LUSC | rs7538905 | chr1:156469247 | T/C | 4.06e-05 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | CESC | rs1925950 | chr1:156450740 | G/A | 1.04e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | COAD | rs1185700 | chr1:156450719 | G/A | 1.07e-03 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | BLCA | rs1185700 | chr1:156450719 | G/A | 5.80e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | ESCA | rs1925950 | chr1:156450740 | G/A | 2.25e-06 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | ESCA | rs1185700 | chr1:156450719 | G/A | 1.36e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | HNSC | rs1925950 | chr1:156450740 | G/A | 2.11e-07 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | HNSC | rs1185700 | chr1:156450719 | G/A | 3.59e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | KIRC | rs1185700 | chr1:156450719 | G/A | 3.07e-03 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | LUSC | rs1925950 | chr1:156450740 | G/A | 9.24e-08 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | LUSC | rs1185700 | chr1:156450719 | G/A | 4.33e-06 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | LUSC | rs1925950 | chr1:156450740 | G/A | 6.91e-05 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | OV | rs1925950 | chr1:156450740 | G/A | 6.37e-06 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | OV | rs1185700 | chr1:156450719 | G/A | 6.81e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | TGCT | rs1925950 | chr1:156450740 | G/A | 4.76e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | STAD | rs1925950 | chr1:156450740 | G/A | 1.91e-08 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | STAD | rs1185700 | chr1:156450719 | G/A | 3.93e-08 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | STAD | rs1925950 | chr1:156450740 | G/A | 1.32e-04 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | STAD | rs1185700 | chr1:156450719 | G/A | 1.68e-03 |
| exon_skip_33330 | 1 | 156449377:156449588:156450625:156450763:156452228:156452432 | 156450625:156450763 | ENST00000360595.3,ENST00000368240.2,ENST00000348159.4 | THCA | rs1185700 | chr1:156450719 | G/A | 3.35e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEF2D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MEF2D |
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RelatedDrugs for MEF2D |
| 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 MEF2D |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MEF2D | C0338480 | Common Migraine | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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