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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 MRTFA |
 Gene summary |
| Gene information | Gene symbol | MRTFA | Gene ID | 57591 |
| Gene name | myocardin related transcription factor A | |
| Synonyms | BSAC|MAL|MKL|MKL1|MRTF-A | |
| Cytomap | 22q13.1-q13.2 | |
| Type of gene | protein-coding | |
| Description | myocardin-related transcription factor AMKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia (translocation) 1megakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia protein | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WU73, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MRTFA | GO:0010735 | positive regulation of transcription via serum response element binding | 24440334 |
| MRTFA | GO:0044319 | wound healing, spreading of cells | 29391067 |
| MRTFA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14970199 |
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Gene structures and expression levels for MRTFA |
| 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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ENSG00000196588
| 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 | ENST00000614754.4 | MRTFA-210:protein_coding:MRTFA | 7.102535e+00 | 5.980840e+00 | 7.514503e-04 | 3.308682e-02 |
| PG | UP | ENST00000477468.1 | MRTFA-209:retained_intron:MRTFA | 1.011167e+00 | 1.104455e+00 | 3.975677e-03 | 3.891589e-02 |
| 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 MRTFA |
| 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_118632 | chr22 | 40463243:40463286:40519464:40519612:40533590:40533811 | 40519464:40519612 |
| exon_skip_121269 | chr22 | 40420847:40421100:40424206:40424381:40429606:40429767 | 40424206:40424381 |
| exon_skip_274091 | chr22 | 40552106:40552367:40594674:40594735:40636478:40636649 | 40594674:40594735 |
| exon_skip_286115 | chr22 | 40423536:40423685:40424206:40424381:40429606:40429767 | 40424206:40424381 |
| exon_skip_6920 | chr22 | 40429641:40429767:40431405:40431480:40435499:40435554 | 40431405:40431480 |
| exon_skip_72982 | chr22 | 40420847:40421100:40423536:40423685:40424206:40424301 | 40423536:40423685 |
| exon_skip_80799 | chr22 | 40435499:40435554:40463221:40463286:40552106:40552367 | 40463221:40463286 |
| exon_skip_86717 | chr22 | 40420847:40421100:40423536:40423685:40424206:40424381 | 40423536:40423685 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MRTFA |
| 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 |
| ENST00000355630 | 40594674 | 40594735 | 3UTR-3UTR |
| ENST00000355630 | 40424206 | 40424381 | Frame-shift |
| ENST00000407029 | 40424206 | 40424381 | Frame-shift |
| ENST00000355630 | 40423536 | 40423685 | In-frame |
| ENST00000407029 | 40423536 | 40423685 | In-frame |
| 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 |
| ENST00000355630 | 40463221 | 40463286 | 3UTR-3CDS |
| ENST00000355630 | 40594674 | 40594735 | 3UTR-3UTR |
| ENST00000355630 | 40423536 | 40423685 | In-frame |
| ENST00000407029 | 40423536 | 40423685 | In-frame |
| 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 |
| ENST00000355630 | 40463221 | 40463286 | 3UTR-3CDS |
| ENST00000355630 | 40594674 | 40594735 | 3UTR-3UTR |
| ENST00000355630 | 40424206 | 40424381 | Frame-shift |
| ENST00000407029 | 40424206 | 40424381 | Frame-shift |
| ENST00000355630 | 40431405 | 40431480 | Frame-shift |
| ENST00000407029 | 40431405 | 40431480 | Frame-shift |
| ENST00000355630 | 40423536 | 40423685 | In-frame |
| ENST00000407029 | 40423536 | 40423685 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MRTFA |
p-ENSG00000196588_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 MRTFA |
| 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 |
| Mayo | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3120-5p | chr22:40594691-40594698 | 8mer-1a | chr22:40594678-40594698 | 159.00 | -17.04 |
| Mayo | ENST00000355630 | 40594674 | 40594735 | hsa-miR-758-5p | chr22:40594717-40594724 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| Mayo | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3622b-5p | chr22:40594711-40594718 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| Mayo | ENST00000355630 | 40594674 | 40594735 | hsa-miR-452-3p | chr22:40594695-40594702 | 8mer-1a | chr22:40594676-40594702 | 141.00 | -13.47 |
| MSBB | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3120-5p | chr22:40594691-40594698 | 8mer-1a | chr22:40594678-40594698 | 159.00 | -17.04 |
| MSBB | ENST00000355630 | 40594674 | 40594735 | hsa-miR-758-5p | chr22:40594717-40594724 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| MSBB | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3622b-5p | chr22:40594711-40594718 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| MSBB | ENST00000355630 | 40594674 | 40594735 | hsa-miR-452-3p | chr22:40594695-40594702 | 8mer-1a | chr22:40594676-40594702 | 141.00 | -13.47 |
| ROSMAP | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3120-5p | chr22:40594691-40594698 | 8mer-1a | chr22:40594678-40594698 | 159.00 | -17.04 |
| ROSMAP | ENST00000355630 | 40594674 | 40594735 | hsa-miR-758-5p | chr22:40594717-40594724 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| ROSMAP | ENST00000355630 | 40594674 | 40594735 | hsa-miR-3622b-5p | chr22:40594711-40594718 | 8mer-1a | chr22:40594704-40594725 | 172.00 | -19.22 |
| ROSMAP | ENST00000355630 | 40594674 | 40594735 | hsa-miR-452-3p | chr22:40594695-40594702 | 8mer-1a | chr22:40594676-40594702 | 141.00 | -13.47 |
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SNVs in the skipped exons for MRTFA |
| - 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 MRTFA |
| 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 MRTFA |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MRTFA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA2B1 | exon_skip_274091 | -4.026518e-01 | 2.709278e-07 |
| IFG | HNRNPH2 | exon_skip_274091 | 4.054000e-01 | 4.937411e-02 |
| IFG | LIN28A | exon_skip_274091 | 4.201364e-01 | 4.094719e-02 |
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RelatedDrugs for MRTFA |
| 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 MRTFA |
| 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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