|
||||||
|
 | |
| |
| |
| |
| 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 MED12L |
 Gene summary |
| Gene information | Gene symbol | MED12L | Gene ID | 116931 |
| Gene name | mediator complex subunit 12 like | |
| Synonyms | NOPAR|TNRC11L|TRALP|TRALPUSH | |
| Cytomap | 3q25.1 | |
| Type of gene | protein-coding | |
| Description | mediator of RNA polymerase II transcription subunit 12-like proteinmediator of RNA polymerase II transcription, subunit 12 homolog-likeno opposite paired repeat proteinthyroid hormone receptor-associated-like proteintrinucleotide repeat-containing gen | |
| Modification date | 20180523 | |
| UniProtAcc | Q86YW9 | |
| Context | PubMed: MED12L [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 |
Top |
Exon skipping events across known transcript of Ensembl for MED12L 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. |
 |
Top |
Gene isoform structures and expression levels for MED12L |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MED12L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378825 | 3 | 150876475:150876586:150877618:150877888:150881679:150881829 | 150877618:150877888 | ENSG00000144893.8 | ENST00000422248.2,ENST00000474524.1,ENST00000309237.4 |
| exon_skip_378827 | 3 | 150908702:150908718:150910336:150910441:150911276:150911453 | 150910336:150910441 | ENSG00000144893.8 | ENST00000309237.4 |
| exon_skip_378828 | 3 | 150908702:150908718:150911276:150911453:151067846:151067994 | 150911276:150911453 | ENSG00000144893.8 | ENST00000273432.4,ENST00000474524.1 |
| exon_skip_378830 | 3 | 151105597:151105960:151107766:151107923:151112443:151112655 | 151107766:151107923 | ENSG00000144893.8 | ENST00000273432.4,ENST00000474524.1 |
| exon_skip_378831 | 3 | 151112454:151112655:151127030:151127120:151129065:151129295 | 151127030:151127120 | ENSG00000144893.8 | ENST00000474524.1 |
| exon_skip_378833 | 3 | 151112443:151112655:151134099:151134210:151148086:151148168 | 151134099:151134210 | ENSG00000144893.8 | ENST00000488092.1 |
| exon_skip_378834 | 3 | 151129065:151129295:151130926:151131083:151134099:151134210 | 151130926:151131083 | ENSG00000144893.8 | ENST00000474524.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MED12L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378825 | 3 | 150876475:150876586:150877618:150877888:150881679:150881829 | 150877618:150877888 | ENSG00000144893.8 | ENST00000422248.2,ENST00000309237.4,ENST00000474524.1 |
| exon_skip_378827 | 3 | 150908702:150908718:150910336:150910441:150911276:150911453 | 150910336:150910441 | ENSG00000144893.8 | ENST00000309237.4 |
| exon_skip_378828 | 3 | 150908702:150908718:150911276:150911453:151067846:151067994 | 150911276:150911453 | ENSG00000144893.8 | ENST00000474524.1,ENST00000273432.4 |
| exon_skip_378830 | 3 | 151105597:151105960:151107766:151107923:151112443:151112655 | 151107766:151107923 | ENSG00000144893.8 | ENST00000474524.1,ENST00000273432.4 |
| exon_skip_378831 | 3 | 151112454:151112655:151127030:151127120:151129065:151129295 | 151127030:151127120 | ENSG00000144893.8 | ENST00000474524.1 |
| exon_skip_378834 | 3 | 151129065:151129295:151130926:151131083:151134099:151134210 | 151130926:151131083 | ENSG00000144893.8 | ENST00000474524.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MED12L |
| 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 |
| ENST00000474524 | 151107766 | 151107923 | Frame-shift |
| ENST00000474524 | 151130926 | 151131083 | Frame-shift |
| ENST00000474524 | 150877618 | 150877888 | In-frame |
| ENST00000474524 | 150911276 | 150911453 | In-frame |
| ENST00000474524 | 151127030 | 151127120 | 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 |
| ENST00000474524 | 151107766 | 151107923 | Frame-shift |
| ENST00000474524 | 151130926 | 151131083 | Frame-shift |
| ENST00000474524 | 150877618 | 150877888 | In-frame |
| ENST00000474524 | 150911276 | 150911453 | In-frame |
| ENST00000474524 | 151127030 | 151127120 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MED12L |
| 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 |
| ENST00000474524 | 10761 | 2145 | 150877618 | 150877888 | 876 | 1145 | 279 | 369 |
| ENST00000474524 | 10761 | 2145 | 150911276 | 150911453 | 2007 | 2183 | 656 | 715 |
| ENST00000474524 | 10761 | 2145 | 151127030 | 151127120 | 5754 | 5843 | 1905 | 1935 |
| 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 |
| ENST00000474524 | 10761 | 2145 | 150877618 | 150877888 | 876 | 1145 | 279 | 369 |
| ENST00000474524 | 10761 | 2145 | 150911276 | 150911453 | 2007 | 2183 | 656 | 715 |
| ENST00000474524 | 10761 | 2145 | 151127030 | 151127120 | 5754 | 5843 | 1905 | 1935 |
| 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 |
| Q86YW9 | 279 | 369 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 656 | 715 | 656 | 656 | Alternative sequence | ID=VSP_029994;Note=In isoform 3. E->EEQSIMAHMGIDSGTTNIFDEVDKSDFKTDFGSEFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 656 | 715 | 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 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 |
| Q86YW9 | 279 | 369 | 1 | 2145 | Chain | ID=PRO_0000313053;Note=Mediator of RNA polymerase II transcription subunit 12-like protein |
| Q86YW9 | 656 | 715 | 656 | 656 | Alternative sequence | ID=VSP_029994;Note=In isoform 3. E->EEQSIMAHMGIDSGTTNIFDEVDKSDFKTDFGSEFP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11524702;Dbxref=PMID:11524702 |
| Q86YW9 | 656 | 715 | 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 |
Top |
SNVs in the skipped exons for MED12L |
| - 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-A1EG-01 | exon_skip_378825 | 150877619 | 150877888 | 150877708 | 150877708 | Frame_Shift_Del | C | - | p.S309fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_378825 | 150877619 | 150877888 | 150877708 | 150877708 | Frame_Shift_Del | C | - | p.S309fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_378825 | 150877619 | 150877888 | 150877769 | 150877769 | Frame_Shift_Del | G | - | p.G330fs |
| ESCA | TCGA-JY-A938-01 | exon_skip_378825 | 150877619 | 150877888 | 150877786 | 150877786 | Frame_Shift_Del | C | - | p.G338fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_378825 | 150877619 | 150877888 | 150877786 | 150877786 | Frame_Shift_Del | C | - | p.G335fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_378825 | 150877619 | 150877888 | 150877853 | 150877853 | Frame_Shift_Del | G | - | p.G358fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_378825 | 150877619 | 150877888 | 150877856 | 150877856 | Frame_Shift_Del | C | - | p.P359fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_378834 | 151130927 | 151131083 | 151130963 | 151130963 | Frame_Shift_Del | G | - | p.V2024fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_378834 | 151130927 | 151131083 | 151130967 | 151130967 | Frame_Shift_Del | G | - | p.G2027fs |
| LIHC | TCGA-G3-A3CJ-01 | 151134100 | 151134210 | 151134109 | 151134109 | Frame_Shift_Del | C | - | p.P2068fs | |
| KIRC | TCGA-B4-5377-01 | 151134100 | 151134210 | 151134124 | 151134124 | Frame_Shift_Del | C | - | p.Q2072fs | |
| LIHC | TCGA-DD-A3A0-01 | 151134100 | 151134210 | 151134136 | 151134136 | Frame_Shift_Del | C | - | p.P2077fs | |
| LIHC | TCGA-BC-A112-01 | exon_skip_378825 | 150877619 | 150877888 | 150877724 | 150877725 | Frame_Shift_Ins | - | C | p.P315fs |
| UCS | TCGA-N5-A4RV-01 | exon_skip_378825 | 150877619 | 150877888 | 150877759 | 150877760 | Frame_Shift_Ins | - | TCGAGTA | p.E327fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.A335fs |
| KIRC | TCGA-AK-3427-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.A335fs |
| LUAD | TCGA-44-2656-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.G335fs |
| LUAD | TCGA-64-1676-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.A335fs |
| LUAD | TCGA-67-3774-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.A335fs |
| STAD | TCGA-F1-A448-01 | exon_skip_378825 | 150877619 | 150877888 | 150877785 | 150877786 | Frame_Shift_Ins | - | C | p.G335fs |
| STAD | TCGA-F1-A448-01 | exon_skip_378825 | 150877619 | 150877888 | 150877786 | 150877787 | Frame_Shift_Ins | - | C | p.G335fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_378825 | 150877619 | 150877888 | 150877748 | 150877748 | Nonsense_Mutation | G | T | p.G323* |
| PAAD | TCGA-IB-7651-01 | exon_skip_378825 | 150877619 | 150877888 | 150877748 | 150877748 | Nonsense_Mutation | G | T | p.G323X |
| THCA | TCGA-DJ-A3V7-01 | exon_skip_378831 | 151127031 | 151127120 | 151127118 | 151127118 | Nonsense_Mutation | C | T | p.Q1935* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_378834 | 151130927 | 151131083 | 151131027 | 151131027 | Nonsense_Mutation | C | T | p.Q2046* |
| SKCM | TCGA-D3-A3ML-06 | exon_skip_378834 | 151130927 | 151131083 | 151131060 | 151131060 | Nonsense_Mutation | C | T | p.R2057* |
| SKCM | TCGA-D3-A3ML-06 | exon_skip_378834 | 151130927 | 151131083 | 151131060 | 151131060 | Nonsense_Mutation | C | T | p.R2057X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_378834 | 151130927 | 151131083 | 151131060 | 151131060 | Nonsense_Mutation | C | T | p.R2057* |
| LUAD | TCGA-64-1676-01 | 151134100 | 151134210 | 151134112 | 151134112 | Nonsense_Mutation | C | T | p.Q2069* | |
| LUAD | TCGA-05-4382-01 | 151134100 | 151134210 | 151134202 | 151134202 | Nonsense_Mutation | C | T | p.Q2099* |
| - 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 |
| GP2D_LARGE_INTESTINE | 150877619 | 150877888 | 150877786 | 150877786 | Frame_Shift_Del | C | - | p.G335fs |
| GP5D_LARGE_INTESTINE | 150877619 | 150877888 | 150877786 | 150877786 | Frame_Shift_Del | C | - | p.G335fs |
| PACADD137_PANCREAS | 151134100 | 151134210 | 151134136 | 151134136 | Frame_Shift_Del | C | - | p.P2077fs |
| NCIH1734_LUNG | 150877619 | 150877888 | 150877679 | 150877679 | Missense_Mutation | C | T | p.R300W |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150877619 | 150877888 | 150877702 | 150877702 | Missense_Mutation | C | A | p.S307R |
| CORL23_LUNG | 150877619 | 150877888 | 150877770 | 150877770 | Missense_Mutation | G | A | p.G330E |
| MELJUSO_SKIN | 150877619 | 150877888 | 150877821 | 150877821 | Missense_Mutation | C | T | p.A347V |
| MM370_SKIN | 150877619 | 150877888 | 150877829 | 150877829 | Missense_Mutation | G | A | p.D350N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150877619 | 150877888 | 150877854 | 150877854 | Missense_Mutation | G | A | p.G358D |
| NCIH1339_LUNG | 150877619 | 150877888 | 150877868 | 150877868 | Missense_Mutation | G | C | p.G363R |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 150911277 | 150911453 | 150911286 | 150911286 | Missense_Mutation | C | T | p.P660S |
| MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150911277 | 150911453 | 150911368 | 150911368 | Missense_Mutation | G | A | p.R687K |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150911277 | 150911453 | 150911416 | 150911416 | Missense_Mutation | G | A | p.R703H |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150911277 | 150911453 | 150911416 | 150911416 | Missense_Mutation | G | A | p.R703H |
| LNCAPCLONEFGC_PROSTATE | 150911277 | 150911453 | 150911443 | 150911443 | Missense_Mutation | C | A | p.P712H |
| CW2_LARGE_INTESTINE | 151107767 | 151107923 | 151107813 | 151107813 | Missense_Mutation | C | A | p.P1798H |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151107767 | 151107923 | 151107829 | 151107829 | Missense_Mutation | G | T | p.M1803I |
| COLO792_SKIN | 151107767 | 151107923 | 151107858 | 151107858 | Missense_Mutation | G | A | p.G1813D |
| SNU1_STOMACH | 151127031 | 151127120 | 151127038 | 151127038 | Missense_Mutation | C | T | p.P1908L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151127031 | 151127120 | 151127061 | 151127061 | Missense_Mutation | G | A | p.A1916T |
| LS1034_LARGE_INTESTINE | 151127031 | 151127120 | 151127073 | 151127073 | Missense_Mutation | C | T | p.R1920W |
| 22RV1_PROSTATE | 151127031 | 151127120 | 151127076 | 151127076 | Missense_Mutation | C | T | p.P1921S |
| 639V_URINARY_TRACT | 151127031 | 151127120 | 151127079 | 151127079 | Missense_Mutation | T | G | p.S1922A |
| LNCAPCLONEFGC_PROSTATE | 151130927 | 151131083 | 151130974 | 151130974 | Missense_Mutation | T | C | p.I2028T |
| OVMANA_OVARY | 151130927 | 151131083 | 151130974 | 151130974 | Missense_Mutation | T | C | p.I2028T |
| NCIH1355_LUNG | 151130927 | 151131083 | 151131042 | 151131042 | Missense_Mutation | C | A | p.P2051T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151134100 | 151134210 | 151134102 | 151134102 | Missense_Mutation | G | A | p.M2065I |
| SNU601_STOMACH | 151134100 | 151134210 | 151134170 | 151134170 | Missense_Mutation | A | G | p.Q2088R |
| CHLA258_BONE | 151134100 | 151134210 | 151134176 | 151134176 | Missense_Mutation | T | C | p.L2090P |
| HEC251_ENDOMETRIUM | 151130927 | 151131083 | 151131060 | 151131060 | Nonsense_Mutation | C | T | p.R2057* |
| SNU81_LARGE_INTESTINE | 151130927 | 151131083 | 151131060 | 151131060 | Nonsense_Mutation | C | T | p.R2057* |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 151134100 | 151134210 | 151134112 | 151134112 | Nonsense_Mutation | C | T | p.Q2069* |
| NCIH441_LUNG | 151134100 | 151134210 | 151134115 | 151134115 | Nonsense_Mutation | C | T | p.Q2070* |
| KYSE180_OESOPHAGUS | 151134100 | 151134210 | 151134162 | 151134163 | Nonsense_Mutation | CC | TT | p.Q2086* |
| KYSE180_OESOPHAGUS | 151134100 | 151134210 | 151134163 | 151134163 | Nonsense_Mutation | C | T | p.Q2086* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MED12L |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MED12L |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MED12L |
Top |
RelatedDrugs for MED12L |
| 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 |
Top |
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)
|