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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for MED20 |
Gene summary |
Gene information | Gene symbol | MED20 | Gene ID | 9477 |
Gene name | mediator complex subunit 20 | |
Synonyms | PRO0213|SRB2|TRFP | |
Cytomap | 6p21.1 | |
Type of gene | protein-coding | |
Description | mediator of RNA polymerase II transcription subunit 20Trf (TATA binding protein-related factor)-proximal homolog | |
Modification date | 20180523 | |
UniProtAcc | Q9H944 | |
Context | PubMed: MED20 [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 |
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Exon skipping events across known transcript of Ensembl for MED20 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 MED20 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MED20 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_459529 | 6 | 41875004:41875025:41877006:41877260:41884522:41884677 | 41877006:41877260 | ENSG00000124641.10 | ENST00000394251.2,ENST00000265350.4 |
exon_skip_459530 | 6 | 41875004:41875025:41877006:41877260:41888742:41888831 | 41877006:41877260 | ENSG00000124641.10 | ENST00000482361.1 |
exon_skip_459531 | 6 | 41875004:41875025:41877082:41877260:41884522:41884677 | 41877082:41877260 | ENSG00000124641.10 | ENST00000409312.1 |
exon_skip_459534 | 6 | 41877082:41877260:41880722:41880838:41884522:41884677 | 41880722:41880838 | ENSG00000124641.10 | ENST00000467535.1 |
exon_skip_459535 | 6 | 41877082:41877260:41884522:41884677:41888742:41888831 | 41884522:41884677 | ENSG00000124641.10 | ENST00000409060.1,ENST00000409312.1 |
exon_skip_459536 | 6 | 41884593:41884677:41885532:41885654:41888742:41888831 | 41885532:41885654 | ENSG00000124641.10 | ENST00000434077.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MED20 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_459529 | 6 | 41875004:41875025:41877006:41877260:41884522:41884677 | 41877006:41877260 | ENSG00000124641.10 | ENST00000265350.4,ENST00000394251.2 |
exon_skip_459530 | 6 | 41875004:41875025:41877006:41877260:41888742:41888831 | 41877006:41877260 | ENSG00000124641.10 | ENST00000482361.1 |
exon_skip_459531 | 6 | 41875004:41875025:41877082:41877260:41884522:41884677 | 41877082:41877260 | ENSG00000124641.10 | ENST00000409312.1 |
exon_skip_459534 | 6 | 41877082:41877260:41880722:41880838:41884522:41884677 | 41880722:41880838 | ENSG00000124641.10 | ENST00000467535.1 |
exon_skip_459535 | 6 | 41877082:41877260:41884522:41884677:41888742:41888831 | 41884522:41884677 | ENSG00000124641.10 | ENST00000409312.1,ENST00000409060.1 |
exon_skip_459536 | 6 | 41884593:41884677:41885532:41885654:41888742:41888831 | 41885532:41885654 | ENSG00000124641.10 | ENST00000434077.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MED20 |
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 |
ENST00000265350 | 41877006 | 41877260 | Frame-shift |
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 |
ENST00000265350 | 41877006 | 41877260 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MED20 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
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 |
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 MED20 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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_459535 | 41884523 | 41884677 | 41884670 | 41884670 | Frame_Shift_Del | G | - | p.Q8fs |
LUAD | TCGA-86-7955-01 | exon_skip_459535 | 41884523 | 41884677 | 41884592 | 41884592 | Nonsense_Mutation | C | A | p.E34* |
BRCA | TCGA-D8-A1JK-01 | exon_skip_459531 exon_skip_459530 exon_skip_459529 | 41877007 | 41877260 | 41877006 | 41877006 | Splice_Site | C | A | e3+1 |
- 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 |
COLO792_SKIN | 41884523 | 41884677 | 41884630 | 41884630 | Frame_Shift_Del | A | - | p.V21fs |
SKMES1_LUNG | 41877083 | 41877260 | 41877111 | 41877111 | Missense_Mutation | C | A | p.A107S |
SKMES1_LUNG | 41877007 | 41877260 | 41877111 | 41877111 | Missense_Mutation | C | A | p.A107S |
HCT15_LARGE_INTESTINE | 41877083 | 41877260 | 41877117 | 41877117 | Missense_Mutation | C | T | p.A105T |
HCT15_LARGE_INTESTINE | 41877007 | 41877260 | 41877117 | 41877117 | Missense_Mutation | C | T | p.A105T |
HEC1_ENDOMETRIUM | 41884523 | 41884677 | 41884564 | 41884564 | Missense_Mutation | C | T | p.C43Y |
COLO201_LARGE_INTESTINE | 41884523 | 41884677 | 41884604 | 41884604 | Missense_Mutation | T | C | p.M30V |
COLO205_LARGE_INTESTINE | 41884523 | 41884677 | 41884604 | 41884604 | Missense_Mutation | T | C | p.M30V |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41884523 | 41884677 | 41884633 | 41884633 | Missense_Mutation | G | A | p.T20I |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41884523 | 41884677 | 41884658 | 41884658 | Missense_Mutation | C | T | p.A12T |
NCIH1568_LUNG | 41877083 | 41877260 | 41877222 | 41877222 | Nonsense_Mutation | C | A | p.E70* |
NCIH1568_LUNG | 41877007 | 41877260 | 41877222 | 41877222 | Nonsense_Mutation | C | A | p.E70* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MED20 |
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 MED20 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MED20 |
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RelatedDrugs for MED20 |
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 MED20 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |