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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 MED12L |
 Gene summary |
| Gene information | Gene symbol | MED12L | Gene ID | 116931 |
| Gene name | mediator complex subunit 12L | |
| Synonyms | NOPAR|TNRC11L|TRALP|TRALPUSH | |
| Cytomap | 3q25.1 | |
| Type of gene | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 12-like proteinmediator complex subunit 12 likemediator of RNA polymerase II transcription, subunit 12 homolog-likeno opposite paired repeat proteinthyroid hormone receptor-associated-like proteintr | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for MED12L |
| 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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ENSG00000144893
| 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 |
| PG | UP | ENST00000422248.6 | MED12L-203:protein_coding:MED12L | 4.457390e+00 | 5.350006e+00 | 1.473074e-03 | 1.921160e-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 MED12L |
| 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_113232 | chr3 | 151394667:151394867:151409243:151409332:151411278:151411507 | 151409243:151409332 |
| exon_skip_11677 | chr3 | 151158689:151158799:151159832:151160101:151163893:151164042 | 151159832:151160101 |
| exon_skip_161786 | chr3 | 151086894:151087025:151116338:151116442:151122783:151122931 | 151116338:151116442 |
| exon_skip_225889 | chr3 | 151122783:151122974:151127825:151127984:151156161:151156330 | 151127825:151127984 |
| exon_skip_35375 | chr3 | 151387810:151388172:151389979:151390135:151394656:151394867 | 151389979:151390135 |
| exon_skip_55214 | chr3 | 151411278:151411507:151413139:151413295:151416312:151416422 | 151413139:151413295 |
| exon_skip_6552 | chr3 | 151190916:151190931:151192550:151192654:151193490:151193666 | 151192550:151192654 |
| exon_skip_83714 | chr3 | 151158693:151158799:151159832:151160101:151163893:151164042 | 151159832:151160101 |
| exon_skip_94471 | chr3 | 151367646:151367766:151368150:151368251:151369436:151369549 | 151368150:151368251 |
| 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 MED12L |
| 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 |
| ENST00000474524 | 151389979 | 151390135 | Frame-shift |
| ENST00000474524 | 151413139 | 151413295 | Frame-shift |
| ENST00000474524 | 151116338 | 151116442 | In-frame |
| ENST00000474524 | 151159832 | 151160101 | In-frame |
| ENST00000474524 | 151409243 | 151409332 | 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 |
| ENST00000474524 | 151389979 | 151390135 | Frame-shift |
| ENST00000474524 | 151116338 | 151116442 | In-frame |
| ENST00000474524 | 151159832 | 151160101 | In-frame |
| ENST00000474524 | 151409243 | 151409332 | 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 |
| ENST00000474524 | 151127825 | 151127984 | Frame-shift |
| ENST00000474524 | 151389979 | 151390135 | Frame-shift |
| ENST00000474524 | 151116338 | 151116442 | In-frame |
| ENST00000474524 | 151159832 | 151160101 | In-frame |
| ENST00000474524 | 151368150 | 151368251 | In-frame |
| ENST00000474524 | 151409243 | 151409332 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MED12L |
p-ENSG00000144893_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 |
| ENST00000474524 | 10761 | 2145 | 151116338 | 151116442 | 139 | 242 | 33 | 68 |
| ENST00000474524 | 10761 | 2145 | 151159832 | 151160101 | 877 | 1145 | 279 | 369 |
| ENST00000474524 | 10761 | 2145 | 151409243 | 151409332 | 5755 | 5843 | 1905 | 1935 |
| 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 |
| ENST00000474524 | 10761 | 2145 | 151116338 | 151116442 | 139 | 242 | 33 | 68 |
| ENST00000474524 | 10761 | 2145 | 151159832 | 151160101 | 877 | 1145 | 279 | 369 |
| ENST00000474524 | 10761 | 2145 | 151409243 | 151409332 | 5755 | 5843 | 1905 | 1935 |
| 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 |
| ENST00000474524 | 10761 | 2145 | 151116338 | 151116442 | 139 | 242 | 33 | 68 |
| ENST00000474524 | 10761 | 2145 | 151159832 | 151160101 | 877 | 1145 | 279 | 369 |
| ENST00000474524 | 10761 | 2145 | 151368150 | 151368251 | 3383 | 3483 | 1115 | 1148 |
| ENST00000474524 | 10761 | 2145 | 151409243 | 151409332 | 5755 | 5843 | 1905 | 1935 |
| 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 |
| Q86YW9 | 33 | 68 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 279 | 369 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 722 | 2145 | Alternative sequence | ID=VSP_029996;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 1905 | 1935 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 1877 | 2134 | Compositional bias | Note=Gln-rich |
| 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 |
| Q86YW9 | 33 | 68 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 279 | 369 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 722 | 2145 | Alternative sequence | ID=VSP_029996;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 1905 | 1935 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 1877 | 2134 | Compositional bias | Note=Gln-rich |
| 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 |
| Q86YW9 | 33 | 68 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 279 | 369 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1115 | 1148 | 722 | 2145 | Alternative sequence | ID=VSP_029996;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 1115 | 1148 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 722 | 2145 | Alternative sequence | ID=VSP_029996;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 1905 | 1935 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 1905 | 1935 | 1877 | 2134 | Compositional bias | Note=Gln-rich |
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3'-UTR located exon skipping events that lost miRNA binding sites in MED12L |
| 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 MED12L |
| - 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 MED12L |
| 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 MED12L |
| 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 MED12L |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | ELAVL4 | exon_skip_6552 | 4.576152e-01 | 3.081451e-09 |
| FL | ILF2 | exon_skip_6552 | 4.165735e-01 | 9.390441e-08 |
| HCC | RBM6 | exon_skip_11677 | 4.545158e-01 | 9.711035e-14 |
| HCC | SAMD4A | exon_skip_11677 | 5.732634e-01 | 1.530377e-22 |
| HCC | PTBP1 | exon_skip_11677 | 5.167221e-01 | 6.392672e-18 |
| HCC | SRSF4 | exon_skip_11677 | 4.692784e-01 | 1.175758e-14 |
| HCC | RALYL | exon_skip_6552 | 4.182740e-01 | 8.538613e-12 |
| HCC | HNRNPF | exon_skip_6552 | -5.361324e-01 | 1.239047e-19 |
| HCC | RBM4B | exon_skip_6552 | -4.069941e-01 | 3.425878e-11 |
| IFG | PABPC1 | exon_skip_6552 | -4.726625e-01 | 1.703253e-02 |
| IFG | HNRNPF | exon_skip_6552 | -4.003911e-01 | 4.733113e-02 |
| PCC | ELAVL4 | exon_skip_6552 | 4.471041e-01 | 2.225939e-10 |
| PCC | QKI | exon_skip_6552 | -4.004224e-01 | 1.948875e-08 |
| PCC | RALYL | exon_skip_6552 | 4.495433e-01 | 1.728553e-10 |
| PCC | HNRNPF | exon_skip_6552 | -4.393794e-01 | 4.893951e-10 |
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RelatedDrugs for MED12L |
| 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 MED12L |
| 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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