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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 MAP2K6 |
Gene summary |
Gene information | Gene symbol | MAP2K6 | Gene ID | 5608 |
Gene name | mitogen-activated protein kinase kinase 6 | |
Synonyms | MAPKK6|MEK6|MKK6|PRKMK6|SAPKK-3|SAPKK3 | |
Cytomap | 17q24.3 | |
Type of gene | protein-coding | |
Description | dual specificity mitogen-activated protein kinase kinase 6MAPK/ERK kinase 6MAPKK 6MEK 6SAPK kinase 3protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)stress-activated protein kinase kinase 3 | |
Modification date | 20180523 | |
UniProtAcc | P52564 | |
Context | PubMed: MAP2K6 [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 |
MAP2K6 | GO:0000187 | activation of MAPK activity | 8663524|9218798 |
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Exon skipping events across known transcript of Ensembl for MAP2K6 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 MAP2K6 |
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 MAP2K6 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155555 | 17 | 67498406:67498558:67500599:67500720:67501920:67501987 | 67500599:67500720 | ENSG00000108984.9 | ENST00000588110.1 |
exon_skip_155563 | 17 | 67515453:67515573:67516410:67516527:67517189:67517241 | 67516410:67516527 | ENSG00000108984.9 | ENST00000586641.1,ENST00000590474.1,ENST00000589647.1,ENST00000359094.3 |
exon_skip_155567 | 17 | 67522710:67522850:67532255:67532301:67537816:67538152 | 67532255:67532301 | ENSG00000108984.9 | ENST00000590474.1,ENST00000589647.1,ENST00000359094.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP2K6 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155555 | 17 | 67498406:67498558:67500599:67500720:67501920:67501987 | 67500599:67500720 | ENSG00000108984.9 | ENST00000588110.1 |
exon_skip_155563 | 17 | 67515453:67515573:67516410:67516527:67517189:67517241 | 67516410:67516527 | ENSG00000108984.9 | ENST00000590474.1,ENST00000586641.1,ENST00000359094.3,ENST00000589647.1 |
exon_skip_155567 | 17 | 67522710:67522850:67532255:67532301:67537816:67538152 | 67532255:67532301 | ENSG00000108984.9 | ENST00000590474.1,ENST00000359094.3,ENST00000589647.1 |
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 MAP2K6 |
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 |
ENST00000590474 | 67532255 | 67532301 | Frame-shift |
ENST00000590474 | 67516410 | 67516527 | 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 |
ENST00000590474 | 67532255 | 67532301 | Frame-shift |
ENST00000590474 | 67516410 | 67516527 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAP2K6 |
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 |
ENST00000590474 | 2887 | 334 | 67516410 | 67516527 | 654 | 770 | 122 | 161 |
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 |
ENST00000590474 | 2887 | 334 | 67516410 | 67516527 | 654 | 770 | 122 | 161 |
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 |
P52564 | 122 | 161 | 122 | 130 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 133 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 1 | 334 | Chain | ID=PRO_0000086386;Note=Dual specificity mitogen-activated protein kinase kinase 6 |
P52564 | 122 | 161 | 53 | 314 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P52564 | 122 | 161 | 136 | 145 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 152 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 125 | 125 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P52564 | 122 | 161 | 125 | 125 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
P52564 | 122 | 161 | 122 | 130 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 133 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 1 | 334 | Chain | ID=PRO_0000086386;Note=Dual specificity mitogen-activated protein kinase kinase 6 |
P52564 | 122 | 161 | 53 | 314 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P52564 | 122 | 161 | 136 | 145 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 152 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FME |
P52564 | 122 | 161 | 125 | 125 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P52564 | 122 | 161 | 125 | 125 | Sequence conflict | Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MAP2K6 |
- 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 |
LUAD | TCGA-55-7576-01 | exon_skip_155567 | 67532256 | 67532301 | 67532289 | 67532289 | Nonsense_Mutation | C | A | p.Y305* |
- 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 |
HCT15_LARGE_INTESTINE | 67516411 | 67516527 | 67516445 | 67516445 | Missense_Mutation | C | A | p.T134K |
MDAMB361_BREAST | 67516411 | 67516527 | 67516495 | 67516495 | Missense_Mutation | C | A | p.P151T |
KYSE70_OESOPHAGUS | 67516411 | 67516527 | 67516517 | 67516517 | Missense_Mutation | T | C | p.I158T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP2K6 |
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 MAP2K6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP2K6 |
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RelatedDrugs for MAP2K6 |
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 |
P52564 | DB12010 | Fostamatinib | Dual specificity mitogen-activated protein kinase kinase 6 | small molecule | approved|investigational |
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RelatedDiseases for MAP2K6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
MAP2K6 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
MAP2K6 | C0013604 | Edema | 1 | CTD_human |
MAP2K6 | C0020517 | Hypersensitivity | 1 | CTD_human |