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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 MED23 |
 Gene summary |
| Gene information | Gene symbol | MED23 | Gene ID | 9439 |
| Gene name | mediator complex subunit 23 | |
| Synonyms | ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2 | |
| Cytomap | 6q23.2 | |
| Type of gene | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 23130 kDa transcriptional co-activator133 kDa transcriptional co-activatoractivator-recruited cofactor 130 kDa componentcofactor required for Sp1 transcriptional activation subunit 3vitamin D3 recep | |
| Modification date | 20180519 | |
| UniProtAcc | Q9ULK4 | |
| Context | PubMed: MED23 [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 |
| MED23 | GO:0006355 | regulation of transcription, DNA-templated | 9989412 |
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Exon skipping events across known transcript of Ensembl for MED23 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 MED23 |
| 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 MED23 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462341 | 6 | 131912452:131912667:131913527:131913600:131914145:131914311 | 131913527:131913600 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000545957.1,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1 |
| exon_skip_462348 | 6 | 131917086:131917303:131917657:131917828:131919426:131919607 | 131917657:131917828 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000545957.1,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1 |
| exon_skip_462352 | 6 | 131927618:131927764:131929067:131929211:131931185:131931227 | 131929067:131929211 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000540546.1,ENST00000368053.4,ENST00000539158.1,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1 |
| exon_skip_462355 | 6 | 131931185:131931386:131936463:131936481:131937046:131937142 | 131936463:131936481 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368053.4,ENST00000368058.1 |
| exon_skip_462356 | 6 | 131931185:131931386:131937046:131937142:131939546:131939659 | 131937046:131937142 | ENSG00000112282.13 | ENST00000368068.3,ENST00000539158.1,ENST00000368060.3 |
| exon_skip_462357 | 6 | 131940966:131941036:131941767:131941869:131943020:131943119 | 131941767:131941869 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000540546.1,ENST00000368053.4,ENST00000539158.1,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MED23 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462341 | 6 | 131912452:131912667:131913527:131913600:131914145:131914311 | 131913527:131913600 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1,ENST00000545957.1 |
| exon_skip_462348 | 6 | 131917086:131917303:131917657:131917828:131919426:131919607 | 131917657:131917828 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1,ENST00000545957.1 |
| exon_skip_462352 | 6 | 131927618:131927764:131929067:131929211:131931185:131931227 | 131929067:131929211 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1,ENST00000368053.4,ENST00000540546.1,ENST00000539158.1 |
| exon_skip_462355 | 6 | 131931185:131931386:131936463:131936481:131937046:131937142 | 131936463:131936481 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368058.1,ENST00000368053.4 |
| exon_skip_462356 | 6 | 131931185:131931386:131937046:131937142:131939546:131939659 | 131937046:131937142 | ENSG00000112282.13 | ENST00000368068.3,ENST00000368060.3,ENST00000539158.1 |
| exon_skip_462357 | 6 | 131940966:131941036:131941767:131941869:131943020:131943119 | 131941767:131941869 | ENSG00000112282.13 | ENST00000354577.4,ENST00000368068.3,ENST00000403834.3,ENST00000368060.3,ENST00000368058.1,ENST00000368053.4,ENST00000540546.1,ENST00000539158.1 |
| 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 MED23 |
| 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 |
| ENST00000368068 | 131913527 | 131913600 | Frame-shift |
| ENST00000368068 | 131917657 | 131917828 | In-frame |
| ENST00000368068 | 131929067 | 131929211 | In-frame |
| ENST00000368068 | 131937046 | 131937142 | In-frame |
| ENST00000368068 | 131941767 | 131941869 | In-frame |
| 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 |
| ENST00000368068 | 131913527 | 131913600 | Frame-shift |
| ENST00000368068 | 131917657 | 131917828 | In-frame |
| ENST00000368068 | 131929067 | 131929211 | In-frame |
| ENST00000368068 | 131937046 | 131937142 | In-frame |
| ENST00000368068 | 131941767 | 131941869 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MED23 |
| 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 |
| ENST00000368068 | 5250 | 1368 | 131941767 | 131941869 | 676 | 777 | 165 | 199 |
| ENST00000368068 | 5250 | 1368 | 131937046 | 131937142 | 961 | 1056 | 260 | 292 |
| ENST00000368068 | 5250 | 1368 | 131929067 | 131929211 | 1258 | 1401 | 359 | 407 |
| ENST00000368068 | 5250 | 1368 | 131917657 | 131917828 | 2788 | 2958 | 869 | 926 |
| 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 |
| ENST00000368068 | 5250 | 1368 | 131941767 | 131941869 | 676 | 777 | 165 | 199 |
| ENST00000368068 | 5250 | 1368 | 131937046 | 131937142 | 961 | 1056 | 260 | 292 |
| ENST00000368068 | 5250 | 1368 | 131929067 | 131929211 | 1258 | 1401 | 359 | 407 |
| ENST00000368068 | 5250 | 1368 | 131917657 | 131917828 | 2788 | 2958 | 869 | 926 |
| 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 MED23 |
| - 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 |
| COAD | TCGA-A6-6780-01 | exon_skip_462348 | 131917658 | 131917828 | 131917748 | 131917748 | Frame_Shift_Del | A | - | p.R897fs |
| GBM | TCGA-19-2620-01 | exon_skip_462352 | 131929068 | 131929211 | 131929144 | 131929144 | Frame_Shift_Del | C | - | p.G382fs |
| BRCA | TCGA-E2-A1BC-01 | exon_skip_462356 | 131937047 | 131937142 | 131937129 | 131937129 | Frame_Shift_Del | G | - | p.P265fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_462357 | 131941768 | 131941869 | 131941798 | 131941798 | Frame_Shift_Del | T | - | p.K189fs |
| SARC | TCGA-DX-A8BS-01A-11D-A37C-09 | exon_skip_462357 | 131941768 | 131941869 | 131941854 | 131941857 | Frame_Shift_Del | AGAT | - | p.I170fs |
| STAD | TCGA-CG-4305-01 | exon_skip_462352 | 131929068 | 131929211 | 131929128 | 131929129 | Frame_Shift_Ins | - | T | p.N393fs |
| STAD | TCGA-CG-4305-01 | exon_skip_462352 | 131929068 | 131929211 | 131929129 | 131929130 | Frame_Shift_Ins | - | T | p.N387fs |
| ESCA | TCGA-R6-A6KZ-01 | exon_skip_462352 | 131929068 | 131929211 | 131929076 | 131929076 | Nonsense_Mutation | C | A | p.E411X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_462352 | 131929068 | 131929211 | 131929076 | 131929076 | Nonsense_Mutation | C | A | p.E405* |
| LUAD | TCGA-44-4112-01 | exon_skip_462356 | 131937047 | 131937142 | 131937143 | 131937143 | Splice_Site | C | A | p.D261_splice |
| - 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 |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131917658 | 131917828 | 131917681 | 131917681 | Missense_Mutation | T | C | p.T919A |
| KYSE180_OESOPHAGUS | 131917658 | 131917828 | 131917788 | 131917788 | Missense_Mutation | T | C | p.Y883C |
| MSTO211H_PLEURA | 131917658 | 131917828 | 131917822 | 131917822 | Missense_Mutation | G | A | p.R872C |
| AN3CA_ENDOMETRIUM | 131929068 | 131929211 | 131929139 | 131929139 | Missense_Mutation | T | C | p.I384V |
| HEC251_ENDOMETRIUM | 131929068 | 131929211 | 131929142 | 131929142 | Missense_Mutation | T | G | p.S383R |
| ECGI10_OESOPHAGUS | 131937047 | 131937142 | 131937117 | 131937117 | Missense_Mutation | A | G | p.L269S |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131929068 | 131929211 | 131929076 | 131929076 | Nonsense_Mutation | C | A | p.E405* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MED23 |
| 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 MED23 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MED23 |
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RelatedDrugs for MED23 |
| 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 MED23 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MED23 | C3280265 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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