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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 MKL1 |
 Gene summary |
| Gene information | Gene symbol | MKL1 | Gene ID | 57591 |
| Gene name | megakaryoblastic leukemia (translocation) 1 | |
| Synonyms | BSAC|MAL|MKL|MRTF-A | |
| Cytomap | 22q13.1-q13.2 | |
| Type of gene | protein-coding | |
| Description | MKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor A | |
| Modification date | 20180524 | |
| UniProtAcc | ||
| Context | PubMed: MKL1 [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 |
| MKL1 | GO:0010735 | positive regulation of transcription via serum response element binding | 24440334 |
| MKL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14970199 |
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Exon skipping events across known transcript of Ensembl for MKL1 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 MKL1 |
| 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 MKL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369667 | 22 | 40812989:40813050:40813344:40813497:40814377:40815388 | 40813344:40813497 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000407029.1,ENST00000402042.1 |
| exon_skip_369669 | 22 | 40816850:40817104:40819539:40819689:40820209:40820305 | 40819539:40819689 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000407029.1 |
| exon_skip_369672 | 22 | 40816850:40817104:40820209:40820385:40825609:40825771 | 40820209:40820385 | ENSG00000196588.10 | ENST00000402042.1 |
| exon_skip_369674 | 22 | 40819539:40819689:40820209:40820385:40825609:40825771 | 40820209:40820385 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000407029.1 |
| exon_skip_369676 | 22 | 40831502:40831558:40859224:40859290:40948109:40948371 | 40859224:40859290 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000402042.1 |
| exon_skip_369678 | 22 | 40859246:40859290:40915467:40915616:40929593:40929815 | 40915467:40915616 | ENSG00000196588.10 | ENST00000422851.1 |
| exon_skip_369680 | 22 | 40859231:40859290:40948109:40948371:40990677:40990739 | 40948109:40948371 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000402042.1 |
| exon_skip_369681 | 22 | 40859231:40859290:40948109:40948371:41032481:41032689 | 40948109:40948371 | ENSG00000196588.10 | ENST00000463769.2 |
| exon_skip_369684 | 22 | 40948109:40948371:40990677:40990739:41032481:41032689 | 40990677:40990739 | ENSG00000196588.10 | ENST00000396617.3,ENST00000466278.1,ENST00000402042.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MKL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369667 | 22 | 40812989:40813050:40813344:40813497:40814377:40815388 | 40813344:40813497 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000402042.1,ENST00000407029.1 |
| exon_skip_369669 | 22 | 40816850:40817104:40819539:40819689:40820209:40820305 | 40819539:40819689 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000407029.1 |
| exon_skip_369672 | 22 | 40816850:40817104:40820209:40820385:40825609:40825771 | 40820209:40820385 | ENSG00000196588.10 | ENST00000402042.1 |
| exon_skip_369674 | 22 | 40819539:40819689:40820209:40820385:40825609:40825771 | 40820209:40820385 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000407029.1 |
| exon_skip_369676 | 22 | 40831502:40831558:40859224:40859290:40948109:40948371 | 40859224:40859290 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000402042.1 |
| exon_skip_369678 | 22 | 40859246:40859290:40915467:40915616:40929593:40929815 | 40915467:40915616 | ENSG00000196588.10 | ENST00000422851.1 |
| exon_skip_369680 | 22 | 40859231:40859290:40948109:40948371:40990677:40990739 | 40948109:40948371 | ENSG00000196588.10 | ENST00000355630.3,ENST00000396617.3,ENST00000402042.1 |
| exon_skip_369681 | 22 | 40859231:40859290:40948109:40948371:41032481:41032689 | 40948109:40948371 | ENSG00000196588.10 | ENST00000463769.2 |
| exon_skip_369684 | 22 | 40948109:40948371:40990677:40990739:41032481:41032689 | 40990677:40990739 | ENSG00000196588.10 | ENST00000396617.3,ENST00000402042.1,ENST00000466278.1 |
| 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 MKL1 |
| 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 MKL1 |
| 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 MKL1 |
| - 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 |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MKL1 |
| 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 MKL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MKL1 |
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RelatedDrugs for MKL1 |
| 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 MKL1 |
| 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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