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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 MED14 |
 Gene summary |
| Gene information | Gene symbol | MED14 | Gene ID | 9282 |
| Gene name | mediator complex subunit 14 | |
| Synonyms | CRSP150|CRSP2|CSRP|CXorf4|DRIP150|EXLM1|RGR1|TRAP170 | |
| Cytomap | Xp11.4 | |
| Type of gene | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 14ARC150CRSP complex subunit 2RGR1 homologactivator-recruited cofactor 150 kDa componentcofactor required for Sp1 transcriptional activation, subunit 2 (150kD)hRGR1human homolog of yeast RGR1thyr | |
| Modification date | 20180523 | |
| UniProtAcc | O60244 | |
| Context | PubMed: MED14 [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 |
| MED14 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
| MED14 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 11867769 |
| MED14 | GO:0030521 | androgen receptor signaling pathway | 12218053 |
| MED14 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
| MED14 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
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Exon skipping events across known transcript of Ensembl for MED14 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 MED14 |
| 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 MED14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514490 | X | 40523558:40523741:40525971:40526103:40531112:40531224 | 40525971:40526103 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514492 | X | 40525971:40526103:40531112:40531224:40534472:40534613 | 40531112:40531224 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514494 | X | 40534472:40534613:40539115:40539385:40540009:40540157 | 40539115:40539385 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514496 | X | 40539115:40539385:40540009:40540162:40541103:40541195 | 40540009:40540162 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514497 | X | 40541854:40542001:40542087:40542248:40547705:40547782 | 40542087:40542248 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514498 | X | 40551959:40552154:40556275:40556435:40560416:40560495 | 40556275:40556435 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514500 | X | 40556275:40556435:40560416:40560495:40562695:40562821 | 40560416:40560495 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514502 | X | 40560416:40560495:40562695:40562821:40568599:40568711 | 40562695:40562821 | ENSG00000180182.6 | ENST00000324817.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MED14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514490 | X | 40523558:40523741:40525971:40526103:40531112:40531224 | 40525971:40526103 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514492 | X | 40525971:40526103:40531112:40531224:40534472:40534613 | 40531112:40531224 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514494 | X | 40534472:40534613:40539115:40539385:40540009:40540157 | 40539115:40539385 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514496 | X | 40539115:40539385:40540009:40540162:40541103:40541195 | 40540009:40540162 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514497 | X | 40541854:40542001:40542087:40542248:40547705:40547782 | 40542087:40542248 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514498 | X | 40551959:40552154:40556275:40556435:40560416:40560495 | 40556275:40556435 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514500 | X | 40556275:40556435:40560416:40560495:40562695:40562821 | 40560416:40560495 | ENSG00000180182.6 | ENST00000324817.1 |
| exon_skip_514502 | X | 40560416:40560495:40562695:40562821:40568599:40568711 | 40562695:40562821 | ENSG00000180182.6 | ENST00000324817.1 |
| 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 MED14 |
| 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 |
| ENST00000324817 | 40531112 | 40531224 | Frame-shift |
| ENST00000324817 | 40542087 | 40542248 | Frame-shift |
| ENST00000324817 | 40556275 | 40556435 | Frame-shift |
| ENST00000324817 | 40560416 | 40560495 | Frame-shift |
| ENST00000324817 | 40525971 | 40526103 | In-frame |
| ENST00000324817 | 40539115 | 40539385 | In-frame |
| ENST00000324817 | 40540009 | 40540162 | In-frame |
| ENST00000324817 | 40562695 | 40562821 | 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 |
| ENST00000324817 | 40531112 | 40531224 | Frame-shift |
| ENST00000324817 | 40542087 | 40542248 | Frame-shift |
| ENST00000324817 | 40556275 | 40556435 | Frame-shift |
| ENST00000324817 | 40560416 | 40560495 | Frame-shift |
| ENST00000324817 | 40525971 | 40526103 | In-frame |
| ENST00000324817 | 40539115 | 40539385 | In-frame |
| ENST00000324817 | 40540009 | 40540162 | In-frame |
| ENST00000324817 | 40562695 | 40562821 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MED14 |
| 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 |
| ENST00000324817 | 8001 | 1454 | 40562695 | 40562821 | 1405 | 1530 | 428 | 470 |
| ENST00000324817 | 8001 | 1454 | 40540009 | 40540162 | 2577 | 2729 | 819 | 870 |
| ENST00000324817 | 8001 | 1454 | 40539115 | 40539385 | 2730 | 2999 | 870 | 960 |
| ENST00000324817 | 8001 | 1454 | 40525971 | 40526103 | 3253 | 3384 | 1044 | 1088 |
| 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 |
| ENST00000324817 | 8001 | 1454 | 40562695 | 40562821 | 1405 | 1530 | 428 | 470 |
| ENST00000324817 | 8001 | 1454 | 40540009 | 40540162 | 2577 | 2729 | 819 | 870 |
| ENST00000324817 | 8001 | 1454 | 40539115 | 40539385 | 2730 | 2999 | 870 | 960 |
| ENST00000324817 | 8001 | 1454 | 40525971 | 40526103 | 3253 | 3384 | 1044 | 1088 |
| 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 |
| O60244 | 428 | 470 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 428 | 470 | 188 | 566 | Region | Note=Interaction with STAT2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12509459;Dbxref=PMID:12509459 |
| O60244 | 819 | 870 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 819 | 870 | 500 | 824 | Region | Note=Interaction with SREBF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15340088;Dbxref=PMID:15340088 |
| O60244 | 870 | 960 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 1044 | 1088 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 1044 | 1088 | 1002 | 1165 | Compositional bias | Note=Pro-rich |
| 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 |
| O60244 | 428 | 470 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 428 | 470 | 188 | 566 | Region | Note=Interaction with STAT2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12509459;Dbxref=PMID:12509459 |
| O60244 | 819 | 870 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 819 | 870 | 500 | 824 | Region | Note=Interaction with SREBF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15340088;Dbxref=PMID:15340088 |
| O60244 | 870 | 960 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 1044 | 1088 | 1 | 1454 | Chain | ID=PRO_0000079357;Note=Mediator of RNA polymerase II transcription subunit 14 |
| O60244 | 1044 | 1088 | 1002 | 1165 | Compositional bias | Note=Pro-rich |
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SNVs in the skipped exons for MED14 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514490 | 40525972 | 40526103 | 40525993 | 40525993 | Frame_Shift_Del | C | - | p.A1082fs |
| PAAD | TCGA-F2-A44G-01 | exon_skip_514494 | 40539116 | 40539385 | 40539348 | 40539348 | Frame_Shift_Del | T | - | p.N883fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514502 | 40562696 | 40562821 | 40562742 | 40562742 | Frame_Shift_Del | A | - | p.F455fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_514502 | 40562696 | 40562821 | 40562784 | 40562784 | Frame_Shift_Del | G | - | p.I442fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_514502 | 40562696 | 40562821 | 40562784 | 40562784 | Frame_Shift_Del | G | - | p.P441fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_514502 | 40562696 | 40562821 | 40562784 | 40562784 | Frame_Shift_Del | G | - | p.P441fs |
| - 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 |
| NCIH513_PLEURA | 40525972 | 40526103 | 40526001 | 40526001 | Missense_Mutation | C | A | p.G1079V |
| JHUEM7_ENDOMETRIUM | 40531113 | 40531224 | 40531157 | 40531157 | Missense_Mutation | C | A | p.S1030I |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40531113 | 40531224 | 40531200 | 40531200 | Missense_Mutation | A | T | p.S1016T |
| HEC59_ENDOMETRIUM | 40539116 | 40539385 | 40539204 | 40539204 | Missense_Mutation | C | T | p.R931Q |
| MFE296_ENDOMETRIUM | 40539116 | 40539385 | 40539301 | 40539301 | Missense_Mutation | T | C | p.T899A |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40539116 | 40539385 | 40539350 | 40539350 | Missense_Mutation | G | C | p.I882M |
| AN3CA_ENDOMETRIUM | 40542088 | 40542248 | 40542198 | 40542198 | Missense_Mutation | C | T | p.R703H |
| SNU398_LIVER | 40556276 | 40556435 | 40556278 | 40556278 | Missense_Mutation | T | C | p.I550V |
| NCIH2342_LUNG | 40540010 | 40540162 | 40540060 | 40540060 | Nonsense_Mutation | G | A | p.Q854* |
| HEC108_ENDOMETRIUM | 40556276 | 40556435 | 40556407 | 40556407 | Nonsense_Mutation | G | A | p.Q507* |
| NCIH716_LARGE_INTESTINE | 40556276 | 40556435 | 40556425 | 40556425 | Nonsense_Mutation | C | A | p.G501* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MED14 |
| 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 MED14 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MED14 |
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RelatedDrugs for MED14 |
| 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 MED14 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MED14 | C0014175 | Endometriosis | 1 | CTD_human |
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