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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 MYEF2 |
 Gene summary |
| Gene information | Gene symbol | MYEF2 | Gene ID | 50804 |
| Gene name | myelin expression factor 2 | |
| Synonyms | HsT18564|MEF-2|MST156|MSTP156|myEF-2 | |
| Cytomap | 15q21.1 | |
| Type of gene | protein-coding | |
| Description | myelin expression factor 2myelin gene expression factor 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P2K5 | |
| Context | PubMed: MYEF2 [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 |
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Exon skipping events across known transcript of Ensembl for MYEF2 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 MYEF2 |
| 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 MYEF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126897 | 15 | 48435257:48435268:48441228:48441280:48441359:48441523 | 48441228:48441280 | ENSG00000104177.13 | ENST00000267836.6,ENST00000560530.1,ENST00000558289.1,ENST00000324324.7,ENST00000558395.1,ENST00000560172.1 |
| exon_skip_126898 | 15 | 48441228:48441280:48441359:48441568:48443296:48443368 | 48441359:48441568 | ENSG00000104177.13 | ENST00000324324.7 |
| exon_skip_126899 | 15 | 48441228:48441280:48441359:48441568:48443669:48443768 | 48441359:48441568 | ENSG00000104177.13 | ENST00000267836.6,ENST00000560530.1,ENST00000558395.1 |
| exon_skip_126901 | 15 | 48441478:48441568:48443296:48443368:48443669:48443768 | 48443296:48443368 | ENSG00000104177.13 | ENST00000324324.7 |
| exon_skip_126903 | 15 | 48443669:48443768:48444070:48444139:48444430:48444481 | 48444070:48444139 | ENSG00000104177.13 | ENST00000267836.6,ENST00000324324.7,ENST00000560513.1 |
| exon_skip_126905 | 15 | 48444070:48444139:48444430:48444481:48445988:48446090 | 48444430:48444481 | ENSG00000104177.13 | ENST00000267836.6,ENST00000324324.7,ENST00000560513.1 |
| exon_skip_126912 | 15 | 48458317:48458325:48459545:48459598:48460827:48461036 | 48459545:48459598 | ENSG00000104177.13 | ENST00000267836.6,ENST00000324324.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYEF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126897 | 15 | 48435257:48435268:48441228:48441280:48441359:48441523 | 48441228:48441280 | ENSG00000104177.13 | ENST00000324324.7,ENST00000558289.1,ENST00000560530.1,ENST00000267836.6,ENST00000560172.1,ENST00000558395.1 |
| exon_skip_126898 | 15 | 48441228:48441280:48441359:48441568:48443296:48443368 | 48441359:48441568 | ENSG00000104177.13 | ENST00000324324.7 |
| exon_skip_126899 | 15 | 48441228:48441280:48441359:48441568:48443669:48443768 | 48441359:48441568 | ENSG00000104177.13 | ENST00000560530.1,ENST00000267836.6,ENST00000558395.1 |
| exon_skip_126901 | 15 | 48441478:48441568:48443296:48443368:48443669:48443768 | 48443296:48443368 | ENSG00000104177.13 | ENST00000324324.7 |
| exon_skip_126903 | 15 | 48443669:48443768:48444070:48444139:48444430:48444481 | 48444070:48444139 | ENSG00000104177.13 | ENST00000324324.7,ENST00000267836.6,ENST00000560513.1 |
| exon_skip_126905 | 15 | 48444070:48444139:48444430:48444481:48445988:48446090 | 48444430:48444481 | ENSG00000104177.13 | ENST00000324324.7,ENST00000267836.6,ENST00000560513.1 |
| exon_skip_126912 | 15 | 48458317:48458325:48459545:48459598:48460827:48461036 | 48459545:48459598 | ENSG00000104177.13 | ENST00000324324.7,ENST00000267836.6 |
| 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 MYEF2 |
| 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 MYEF2 |
| 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 MYEF2 |
| - 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_126899 exon_skip_126898 | 48441360 | 48441568 | 48441430 | 48441430 | Frame_Shift_Del | A | - | p.L506fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126899 exon_skip_126898 | 48441360 | 48441568 | 48441520 | 48441520 | Frame_Shift_Del | C | - | p.G476fs |
| BLCA | TCGA-H4-A2HQ-01 | exon_skip_126905 | 48444431 | 48444481 | 48444460 | 48444460 | Frame_Shift_Del | C | - | p.G370fs |
| BRCA | TCGA-A2-A0EM-01 | exon_skip_126897 | 48441229 | 48441280 | 48441260 | 48441260 | Nonsense_Mutation | C | T | p.W536* |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_126905 | 48444431 | 48444481 | 48444476 | 48444476 | Nonsense_Mutation | C | A | p.G365* |
| - 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 |
| OVMIU_OVARY | 48441229 | 48441280 | 48441244 | 48441245 | Frame_Shift_Del | TC | - | p.K542fs |
| SNU719_STOMACH | 48441229 | 48441280 | 48441270 | 48441270 | Missense_Mutation | T | A | p.D533V |
| CW2_LARGE_INTESTINE | 48441360 | 48441568 | 48441391 | 48441391 | Missense_Mutation | C | T | p.G519D |
| HEC251_ENDOMETRIUM | 48441360 | 48441568 | 48441397 | 48441397 | Missense_Mutation | C | A | p.R517I |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48441360 | 48441568 | 48441449 | 48441449 | Missense_Mutation | C | T | p.D500N |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48441360 | 48441568 | 48441475 | 48441475 | Missense_Mutation | A | G | p.I491T |
| NCIH526_LUNG | 48441360 | 48441568 | 48441511 | 48441511 | Missense_Mutation | C | T | p.R479Q |
| SNU175_LARGE_INTESTINE | 48441360 | 48441568 | 48441511 | 48441511 | Missense_Mutation | C | T | p.R479Q |
| H4_CENTRAL_NERVOUS_SYSTEM | 48441360 | 48441568 | 48441511 | 48441511 | Missense_Mutation | C | T | p.R479Q |
| MFE319_ENDOMETRIUM | 48441360 | 48441568 | 48441511 | 48441511 | Missense_Mutation | C | T | p.R479Q |
| MDAMB468_BREAST | 48441360 | 48441568 | 48441522 | 48441522 | Missense_Mutation | C | T | p.M475I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48443297 | 48443368 | 48443306 | 48443306 | Missense_Mutation | A | T | p.S457T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48443297 | 48443368 | 48443306 | 48443306 | Missense_Mutation | A | T | p.S457T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48443297 | 48443368 | 48443330 | 48443330 | Missense_Mutation | A | C | p.S449A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48443297 | 48443368 | 48443330 | 48443330 | Missense_Mutation | A | C | p.S449A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48443297 | 48443368 | 48443330 | 48443330 | Missense_Mutation | A | C | p.S449A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48443297 | 48443368 | 48443330 | 48443330 | Missense_Mutation | A | C | p.S449A |
| S117_SOFT_TISSUE | 48443297 | 48443368 | 48443330 | 48443330 | Missense_Mutation | A | C | p.S449A |
| HCC1359_LUNG | 48444071 | 48444139 | 48444075 | 48444075 | Missense_Mutation | C | A | p.M401I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48444071 | 48444139 | 48444100 | 48444100 | Missense_Mutation | C | G | p.G393A |
| S117_SOFT_TISSUE | 48444071 | 48444139 | 48444100 | 48444100 | Missense_Mutation | C | G | p.G393A |
| NCIH2135_LUNG | 48444071 | 48444139 | 48444136 | 48444136 | Missense_Mutation | A | T | p.I381K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48444071 | 48444139 | 48444137 | 48444137 | Missense_Mutation | T | C | p.I381V |
| S117_SOFT_TISSUE | 48444071 | 48444139 | 48444137 | 48444137 | Missense_Mutation | T | C | p.I381V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48444431 | 48444481 | 48444449 | 48444449 | Missense_Mutation | T | C | p.M374V |
| S117_SOFT_TISSUE | 48444431 | 48444481 | 48444449 | 48444449 | Missense_Mutation | T | C | p.M374V |
| GB1_CENTRAL_NERVOUS_SYSTEM | 48444431 | 48444481 | 48444468 | 48444468 | Missense_Mutation | A | T | p.D367E |
| HCC1954_BREAST | 48459546 | 48459598 | 48459562 | 48459562 | Missense_Mutation | G | A | p.A136V |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 48444071 | 48444139 | 48444080 | 48444080 | Nonsense_Mutation | G | A | p.R400* |
| EPLC272H_LUNG | 48444431 | 48444481 | 48444432 | 48444432 | Splice_Site | T | C | p.G379G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYEF2 |
| 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 MYEF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYEF2 |
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RelatedDrugs for MYEF2 |
| 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 MYEF2 |
| 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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