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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 MAP2K1 |
 Gene summary |
| Gene information | Gene symbol | MAP2K1 | Gene ID | 5604 |
| Gene name | mitogen-activated protein kinase kinase 1 | |
| Synonyms | CFC3|MAPKK1|MEK1|MKK1|PRKMK1 | |
| Cytomap | 15q22.31 | |
| Type of gene | protein-coding | |
| Description | dual specificity mitogen-activated protein kinase kinase 1ERK activator kinase 1MAPK/ERK kinase 1MAPKK 1MEK 1protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1) | |
| Modification date | 20180523 | |
| UniProtAcc | Q02750 | |
| Context | PubMed: MAP2K1 [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 |
| MAP2K1 | GO:0000187 | activation of MAPK activity | 10644344 |
| MAP2K1 | GO:0006468 | protein phosphorylation | 28166211 |
| MAP2K1 | GO:0008285 | negative regulation of cell proliferation | 9765203 |
| MAP2K1 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 8388392 |
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Exon skipping events across known transcript of Ensembl for MAP2K1 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 MAP2K1 |
| 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 MAP2K1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122899 | 15 | 66679174:66679765:66727364:66727575:66729083:66729230 | 66727364:66727575 | ENSG00000169032.5 | ENST00000425818.2 |
| exon_skip_122902 | 15 | 66727364:66727575:66729083:66729230:66735617:66735695 | 66729083:66729230 | ENSG00000169032.5 | ENST00000307102.5,ENST00000425818.2 |
| exon_skip_122903 | 15 | 66729083:66729230:66735617:66735695:66736993:66737045 | 66735617:66735695 | ENSG00000169032.5 | ENST00000307102.5,ENST00000425818.2 |
| exon_skip_122906 | 15 | 66736993:66737045:66774092:66774217:66777327:66777529 | 66774092:66774217 | ENSG00000169032.5 | ENST00000307102.5 |
| exon_skip_122911 | 15 | 66774092:66774217:66777327:66777529:66779565:66779630 | 66777327:66777529 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122919 | 15 | 66777331:66777529:66779565:66779630:66781552:66781614 | 66779565:66779630 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122920 | 15 | 66779565:66779630:66781552:66781614:66782055:66782101 | 66781552:66781614 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122924 | 15 | 66781552:66781614:66782055:66782101:66782839:66783681 | 66782055:66782101 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAP2K1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122899 | 15 | 66679174:66679765:66727364:66727575:66729083:66729230 | 66727364:66727575 | ENSG00000169032.5 | ENST00000425818.2 |
| exon_skip_122902 | 15 | 66727364:66727575:66729083:66729230:66735617:66735695 | 66729083:66729230 | ENSG00000169032.5 | ENST00000307102.5,ENST00000425818.2 |
| exon_skip_122903 | 15 | 66729083:66729230:66735617:66735695:66736993:66737045 | 66735617:66735695 | ENSG00000169032.5 | ENST00000307102.5,ENST00000425818.2 |
| exon_skip_122906 | 15 | 66736993:66737045:66774092:66774217:66777327:66777529 | 66774092:66774217 | ENSG00000169032.5 | ENST00000307102.5 |
| exon_skip_122911 | 15 | 66774092:66774217:66777327:66777529:66779565:66779630 | 66777327:66777529 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122919 | 15 | 66777331:66777529:66779565:66779630:66781552:66781614 | 66779565:66779630 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122920 | 15 | 66779565:66779630:66781552:66781614:66782055:66782101 | 66781552:66781614 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| exon_skip_122924 | 15 | 66781552:66781614:66782055:66782101:66782839:66783681 | 66782055:66782101 | ENSG00000169032.5 | ENST00000307102.5,ENST00000566326.1 |
| 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 MAP2K1 |
| 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 |
| ENST00000307102 | 66774092 | 66774217 | Frame-shift |
| ENST00000307102 | 66777327 | 66777529 | Frame-shift |
| ENST00000307102 | 66779565 | 66779630 | Frame-shift |
| ENST00000307102 | 66781552 | 66781614 | Frame-shift |
| ENST00000307102 | 66782055 | 66782101 | Frame-shift |
| ENST00000307102 | 66729083 | 66729230 | In-frame |
| ENST00000307102 | 66735617 | 66735695 | 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 |
| ENST00000307102 | 66774092 | 66774217 | Frame-shift |
| ENST00000307102 | 66777327 | 66777529 | Frame-shift |
| ENST00000307102 | 66779565 | 66779630 | Frame-shift |
| ENST00000307102 | 66781552 | 66781614 | Frame-shift |
| ENST00000307102 | 66782055 | 66782101 | Frame-shift |
| ENST00000307102 | 66729083 | 66729230 | In-frame |
| ENST00000307102 | 66735617 | 66735695 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAP2K1 |
| 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 |
| ENST00000307102 | 3427 | 393 | 66729083 | 66729230 | 823 | 969 | 97 | 146 |
| ENST00000307102 | 3427 | 393 | 66735617 | 66735695 | 970 | 1047 | 146 | 172 |
| 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 |
| ENST00000307102 | 3427 | 393 | 66729083 | 66729230 | 823 | 969 | 97 | 146 |
| ENST00000307102 | 3427 | 393 | 66735617 | 66735695 | 970 | 1047 | 146 | 172 |
| 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 |
| Q02750 | 97 | 146 | 93 | 100 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 129 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 138 | 143 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 97 | 97 | Binding site | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 97 | 146 | 97 | 97 | Binding site | Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed:19019675,ECO:00002 |
| Q02750 | 97 | 146 | 1 | 393 | Chain | ID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1 |
| Q02750 | 97 | 146 | 68 | 361 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q02750 | 97 | 146 | 105 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 116 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 97 | 97 | Mutagenesis | Note=Inactivation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746 |
| Q02750 | 97 | 146 | 128 | 128 | Natural variant | ID=VAR_069780;Note=In CFC3. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18042262;Dbxref=dbSNP:rs730880508,PMID:18042262 |
| Q02750 | 97 | 146 | 130 | 130 | Natural variant | ID=VAR_035094;Note=In CFC3. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16439621;Dbxref=dbSNP:rs121908595,PMID:16439621 |
| Q02750 | 97 | 146 | 143 | 146 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 97 | 146 | 144 | 146 | Region | Note=Inhibitor binding |
| Q02750 | 146 | 172 | 147 | 172 | Alternative sequence | ID=VSP_040500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1281467;Dbxref=PMID:1281467 |
| Q02750 | 146 | 172 | 1 | 393 | Chain | ID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1 |
| Q02750 | 146 | 172 | 68 | 361 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q02750 | 146 | 172 | 151 | 158 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 146 | 172 | 163 | 184 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 146 | 172 | 150 | 150 | Mutagenesis | Note=No loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746 |
| Q02750 | 146 | 172 | 143 | 146 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 146 | 172 | 150 | 153 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 146 | 172 | 144 | 146 | Region | Note=Inhibitor binding |
| 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 |
| Q02750 | 97 | 146 | 93 | 100 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 129 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 138 | 143 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 97 | 97 | Binding site | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 97 | 146 | 97 | 97 | Binding site | Note=Inhibitor;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed:19019675,ECO:00002 |
| Q02750 | 97 | 146 | 1 | 393 | Chain | ID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1 |
| Q02750 | 97 | 146 | 68 | 361 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q02750 | 97 | 146 | 105 | 115 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 116 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 97 | 146 | 97 | 97 | Mutagenesis | Note=Inactivation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746 |
| Q02750 | 97 | 146 | 128 | 128 | Natural variant | ID=VAR_069780;Note=In CFC3. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18042262;Dbxref=dbSNP:rs730880508,PMID:18042262 |
| Q02750 | 97 | 146 | 130 | 130 | Natural variant | ID=VAR_035094;Note=In CFC3. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16439621;Dbxref=dbSNP:rs121908595,PMID:16439621 |
| Q02750 | 97 | 146 | 143 | 146 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 97 | 146 | 144 | 146 | Region | Note=Inhibitor binding |
| Q02750 | 146 | 172 | 147 | 172 | Alternative sequence | ID=VSP_040500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1281467;Dbxref=PMID:1281467 |
| Q02750 | 146 | 172 | 1 | 393 | Chain | ID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1 |
| Q02750 | 146 | 172 | 68 | 361 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q02750 | 146 | 172 | 151 | 158 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 146 | 172 | 163 | 184 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC |
| Q02750 | 146 | 172 | 150 | 150 | Mutagenesis | Note=No loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746 |
| Q02750 | 146 | 172 | 143 | 146 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 146 | 172 | 150 | 153 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000269|PubMed:15543157,ECO:0000269|PubMed:17880056,ECO:0000269|PubMed:18951019,ECO:0000269|PubMed |
| Q02750 | 146 | 172 | 144 | 146 | Region | Note=Inhibitor binding |
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SNVs in the skipped exons for MAP2K1 |
| - 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_122899 | 66727365 | 66727575 | 66727474 | 66727474 | Frame_Shift_Del | A | - | p.K64fs |
| UCEC | TCGA-AP-A05P-01 | exon_skip_122911 | 66777328 | 66777529 | 66777405 | 66777405 | Frame_Shift_Del | G | - | p.A257fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_122919 | 66779566 | 66779630 | 66779599 | 66779599 | Frame_Shift_Del | T | - | p.I310fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_122920 | 66781553 | 66781614 | 66781588 | 66781588 | Frame_Shift_Del | G | - | p.L332fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122920 | 66781553 | 66781614 | 66781592 | 66781592 | Frame_Shift_Del | T | - | p.F334fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122924 | 66782056 | 66782101 | 66782086 | 66782086 | Frame_Shift_Del | T | - | p.D351fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_122899 | 66727365 | 66727575 | 66727426 | 66727426 | Nonsense_Mutation | A | T | p.K48* |
| SKCM | TCGA-EB-A5UN-06 | exon_skip_122911 | 66777328 | 66777529 | 66777374 | 66777374 | Nonsense_Mutation | G | A | p.W247* |
| - 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 | 66727365 | 66727575 | 66727424 | 66727424 | Missense_Mutation | G | A | p.R47Q |
| BT12_SOFT_TISSUE | 66727365 | 66727575 | 66727429 | 66727429 | Missense_Mutation | C | T | p.R49C |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66727365 | 66727575 | 66727429 | 66727429 | Missense_Mutation | C | T | p.R49C |
| SNUC1_LARGE_INTESTINE | 66727365 | 66727575 | 66727443 | 66727443 | Missense_Mutation | T | G | p.F53L |
| OCUM1_STOMACH | 66727365 | 66727575 | 66727451 | 66727451 | Missense_Mutation | A | C | p.Q56P |
| NCIH1437_LUNG | 66727365 | 66727575 | 66727451 | 66727451 | Missense_Mutation | A | C | p.Q56P |
| SW48_LARGE_INTESTINE | 66727365 | 66727575 | 66727451 | 66727451 | Missense_Mutation | A | C | p.Q56P |
| KPNYN_AUTONOMIC_GANGLIA | 66727365 | 66727575 | 66727451 | 66727451 | Missense_Mutation | A | C | p.Q56P |
| LNCAPCLONEFGC_PROSTATE | 66727365 | 66727575 | 66727451 | 66727451 | Missense_Mutation | A | C | p.Q56P |
| CORL321_PLEURA | 66727365 | 66727575 | 66727463 | 66727463 | Missense_Mutation | T | A | p.V60E |
| ES2_OVARY | 66727365 | 66727575 | 66727483 | 66727483 | Missense_Mutation | G | A | p.D67N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66727365 | 66727575 | 66727483 | 66727483 | Missense_Mutation | G | A | p.D67N |
| SNGM_ENDOMETRIUM | 66727365 | 66727575 | 66727522 | 66727522 | Missense_Mutation | G | A | p.G80S |
| SW48_LARGE_INTESTINE | 66729084 | 66729230 | 66729147 | 66729147 | Missense_Mutation | C | T | p.H119Y |
| A2058_SKIN | 66729084 | 66729230 | 66729162 | 66729162 | Missense_Mutation | C | T | p.P124S |
| HS936T_SKIN | 66729084 | 66729230 | 66729163 | 66729163 | Missense_Mutation | C | T | p.P124L |
| MZ2MEL_SKIN | 66729084 | 66729230 | 66729175 | 66729175 | Missense_Mutation | G | A | p.G128D |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66729084 | 66729230 | 66729177 | 66729177 | Missense_Mutation | T | C | p.F129L |
| NCIH460_LUNG | 66729084 | 66729230 | 66729193 | 66729193 | Missense_Mutation | A | G | p.Y134C |
| SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66729084 | 66729230 | 66729198 | 66729198 | Missense_Mutation | G | T | p.D136Y |
| CAL148_BREAST | 66774093 | 66774217 | 66774131 | 66774131 | Missense_Mutation | G | A | p.E203K |
| SARC9371_BONE | 66774093 | 66774217 | 66774131 | 66774131 | Missense_Mutation | G | A | p.E203K |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66774093 | 66774217 | 66774131 | 66774131 | Missense_Mutation | G | A | p.E203K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66774093 | 66774217 | 66774156 | 66774156 | Missense_Mutation | T | C | p.V211A |
| LIM1215_LARGE_INTESTINE | 66774093 | 66774217 | 66774159 | 66774159 | Missense_Mutation | G | A | p.S212N |
| HEC59_ENDOMETRIUM | 66777328 | 66777529 | 66777413 | 66777413 | Missense_Mutation | G | T | p.R260M |
| H3118_UPPER_AERODIGESTIVE_TRACT | 66777328 | 66777529 | 66777456 | 66777456 | Missense_Mutation | G | A | p.M274I |
| MCC26_SKIN | 66777328 | 66777529 | 66777509 | 66777509 | Missense_Mutation | C | T | p.T292I |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66782056 | 66782101 | 66782072 | 66782072 | Missense_Mutation | G | A | p.A347T |
| SW48_LARGE_INTESTINE | 66782056 | 66782101 | 66782085 | 66782085 | Missense_Mutation | A | G | p.D351G |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 66782056 | 66782101 | 66782095 | 66782095 | Missense_Mutation | A | C | p.Q354H |
| JHUEM7_ENDOMETRIUM | 66779566 | 66779630 | 66779629 | 66779629 | Splice_Site | A | C | p.E320A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP2K1 |
| 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 MAP2K1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP2K1 |
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RelatedDrugs for MAP2K1 |
| 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 |
| Q02750 | DB06616 | Bosutinib | Dual specificity mitogen-activated protein kinase kinase 1 | small molecule | approved | |
| Q02750 | DB08911 | Trametinib | Dual specificity mitogen-activated protein kinase kinase 1 | small molecule | approved | |
| Q02750 | DB05239 | Cobimetinib | Dual specificity mitogen-activated protein kinase kinase 1 | small molecule | approved|investigational |
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RelatedDiseases for MAP2K1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MAP2K1 | C1275081 | Cardio-facio-cutaneous syndrome | 2 | CTD_human;ORPHANET |
| MAP2K1 | C3809006 | CARDIOFACIOCUTANEOUS SYNDROME 3 | 2 | UNIPROT |
| MAP2K1 | C0007786 | Brain Ischemia | 1 | CTD_human |
| MAP2K1 | C0023443 | Hairy Cell Leukemia | 1 | CTD_human |
| MAP2K1 | C0025202 | melanoma | 1 | CTD_human |
| MAP2K1 | C0028326 | Noonan Syndrome | 1 | CTD_human |
| MAP2K1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| MAP2K1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| MAP2K1 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
| MAP2K1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| MAP2K1 | C2063866 | Depressive Disorder, Treatment-Resistant | 1 | PSYGENET |
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