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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 MED12 |
 Gene summary |
| Gene information | Gene symbol | MED12 | Gene ID | 9968 |
| Gene name | mediator complex subunit 12 | |
| Synonyms | ARC240|CAGH45|FGS1|HOPA|Kto|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230 | |
| Cytomap | Xq13.1 | |
| Type of gene | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 12CAG repeat protein 45Kohtalo homologOPA-containing proteinactivator-recruited cofactor 240 kDa componenthuman opposite pairedmediator of RNA polymerase II transcription, subunit 12 homologputati | |
| Modification date | 20200321 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MED12 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
| MED12 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
| MED12 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
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Gene structures and expression levels for MED12 |
| 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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ENSG00000184634
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 MED12 |
| 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_133300 | chrX | 71124279:71124388:71124764:71124844:71124976:71125146 | 71124764:71124844 |
| exon_skip_153296 | chrX | 71132377:71132538:71132845:71132956:71133123:71133212 | 71132845:71132956 |
| exon_skip_173330 | chrX | 71136879:71137029:71137187:71137392:71137558:71137635 | 71137187:71137392 |
| exon_skip_190423 | chrX | 71130035:71130214:71131550:71131621:71132073:71132206 | 71131550:71131621 |
| exon_skip_208553 | chrX | 71133123:71133212:71134357:71134466:71134713:71134848 | 71134357:71134466 |
| exon_skip_228520 | chrX | 71136879:71137029:71137187:71137383:71137558:71137635 | 71137187:71137383 |
| exon_skip_242243 | chrX | 71121562:71121816:71122200:71122346:71122508:71122607 | 71122200:71122346 |
| exon_skip_293084 | chrX | 71125351:71125495:71125663:71125713:71126036:71126154 | 71125663:71125713 |
| exon_skip_45286 | chrX | 71124159:71124388:71124764:71124844:71124976:71125047 | 71124764:71124844 |
| exon_skip_71643 | chrX | 71124159:71124388:71124764:71124844:71124976:71125146 | 71124764:71124844 |
| exon_skip_77831 | chrX | 71137726:71137780:71137856:71137943:71140635:71140755 | 71137856:71137943 |
| 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 MED12 |
| 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 |
| ENST00000374080 | 71132845 | 71132956 | Frame-shift |
| ENST00000374080 | 71134357 | 71134466 | Frame-shift |
| ENST00000374080 | 71137187 | 71137383 | Frame-shift |
| ENST00000374080 | 71124764 | 71124844 | In-frame |
| ENST00000374080 | 71125663 | 71125713 | In-frame |
| ENST00000374080 | 71131550 | 71131621 | 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 |
| ENST00000374080 | 71132845 | 71132956 | Frame-shift |
| ENST00000374080 | 71124764 | 71124844 | In-frame |
| ENST00000374080 | 71125663 | 71125713 | In-frame |
| ENST00000374080 | 71131550 | 71131621 | 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 |
| ENST00000374080 | 71132845 | 71132956 | Frame-shift |
| ENST00000374080 | 71134357 | 71134466 | Frame-shift |
| ENST00000374080 | 71137187 | 71137383 | Frame-shift |
| ENST00000374080 | 71122200 | 71122346 | In-frame |
| ENST00000374080 | 71124764 | 71124844 | In-frame |
| ENST00000374080 | 71125663 | 71125713 | In-frame |
| ENST00000374080 | 71131550 | 71131621 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MED12 |
p-ENSG00000184634_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 |
| ENST00000374080 | 6812 | 2177 | 71124764 | 71124844 | 2008 | 2087 | 658 | 685 |
| ENST00000374080 | 6812 | 2177 | 71125663 | 71125713 | 2405 | 2454 | 791 | 807 |
| ENST00000374080 | 6812 | 2177 | 71131550 | 71131621 | 4081 | 4151 | 1349 | 1373 |
| 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 |
| ENST00000374080 | 6812 | 2177 | 71124764 | 71124844 | 2008 | 2087 | 658 | 685 |
| ENST00000374080 | 6812 | 2177 | 71125663 | 71125713 | 2405 | 2454 | 791 | 807 |
| ENST00000374080 | 6812 | 2177 | 71131550 | 71131621 | 4081 | 4151 | 1349 | 1373 |
| 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 |
| ENST00000374080 | 6812 | 2177 | 71122200 | 71122346 | 1135 | 1280 | 367 | 416 |
| ENST00000374080 | 6812 | 2177 | 71124764 | 71124844 | 2008 | 2087 | 658 | 685 |
| ENST00000374080 | 6812 | 2177 | 71125663 | 71125713 | 2405 | 2454 | 791 | 807 |
| ENST00000374080 | 6812 | 2177 | 71131550 | 71131621 | 4081 | 4151 | 1349 | 1373 |
| 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 |
| Q93074 | 658 | 685 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 658 | 685 | 665 | 665 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q93074 | 791 | 807 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 1349 | 1373 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| 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 |
| Q93074 | 658 | 685 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 658 | 685 | 665 | 665 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q93074 | 791 | 807 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 1349 | 1373 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| 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 |
| Q93074 | 367 | 416 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 367 | 416 | 397 | 397 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q93074 | 658 | 685 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 658 | 685 | 665 | 665 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q93074 | 791 | 807 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
| Q93074 | 1349 | 1373 | 1 | 2177 | Chain | ID=PRO_0000096359;Note=Mediator of RNA polymerase II transcription subunit 12 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MED12 |
| 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 |
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SNVs in the skipped exons for MED12 |
| - 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 MED12 |
| 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 MED12 |
| 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 MED12 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_293084 | -4.297730e-01 | 4.507200e-08 |
| CB | RBM4 | exon_skip_190423 | -6.762016e-01 | 2.537132e-22 |
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RelatedDrugs for MED12 |
| 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 MED12 |
| 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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