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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MAP2K1

check button Gene summary
Gene informationGene symbol

MAP2K1

Gene ID

5604

Gene namemitogen-activated protein kinase kinase 1
SynonymsCFC3|MAPKK1|MEK1|MKK1|PRKMK1
Cytomap

15q22.31

Type of geneprotein-coding
Descriptiondual 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 date20200327
UniProtAcc

A4QPA9,

B4DFY5,

H3BRW9,

Q02750,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed 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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Gene structures and expression levels for MAP2K1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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.
all structure

ENSG00000169032
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBUPENST00000425818.2MAP2K1-202:retained_intron:MAP2K12.532813e+011.413867e+006.636706e-071.058299e-05
TCDOWNENST00000425818.2MAP2K1-202:retained_intron:MAP2K16.013531e+00-8.258072e-013.178775e-032.383406e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MAP2K1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_162941chr1566435027:66435237:66436746:66436892:66443280:6644335766436746:66436892
exon_skip_184525chr1566484994:66485191:66487228:66487292:66489215:6648927666487228:66487292
exon_skip_206153chr1566484990:66485191:66487228:66487292:66489215:6648927666487228:66487292
exon_skip_206613chr1566487228:66487292:66489215:66489276:66489718:6648976366489215:66489276
exon_skip_220589chr1566453454:66453543:66481755:66481879:66484990:6648519166481755:66481879
exon_skip_231303chr1566386837:66387427:66435027:66435237:66436746:6643689266435027:66435237
exon_skip_27214chr1566436746:66436892:66443280:66443357:66444656:6644470766443280:66443357
exon_skip_28377chr1566489215:66489276:66489718:66489763:66490502:6649134366489718:66489763
exon_skip_293377chr1566481755:66481879:66484990:66485191:66487228:6648729266484990:66485191
exon_skip_69chr1566444656:66444707:66481755:66481879:66484990:6648519166481755:66481879

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for MAP2K1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003071026648499066485191Frame-shift
ENST000003071026648722866487292Frame-shift
ENST000003071026648971866489763Frame-shift
ENST000003071026643674666436892In-frame
ENST000003071026644328066443357In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003071026643674666436892In-frame
ENST000003071026644328066443357In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003071026648175566481879Frame-shift
ENST000003071026648499066485191Frame-shift
ENST000003071026648722866487292Frame-shift
ENST000003071026648921566489276Frame-shift
ENST000003071026648971866489763Frame-shift
ENST000003071026643674666436892In-frame
ENST000003071026644328066443357In-frame

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Infer the effects of exon skipping event on protein functional features for MAP2K1

p-ENSG00000169032_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003071023427393664367466643689282496997146
ENST00000307102342739366443280664433579711047146172

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003071023427393664367466643689282496997146
ENST00000307102342739366443280664433579711047146172

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003071023427393664367466643689282496997146
ENST00000307102342739366443280664433579711047146172

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q027509714693100Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146129135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146138143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797Binding siteNote=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
Q02750971469797Binding siteNote=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
Q02750971461393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q027509714668361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q0275097146105115HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146116120HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797MutagenesisNote=Inactivation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q0275097146128128Natural variantID=VAR_069780;Note=In CFC3. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18042262;Dbxref=dbSNP:rs730880508,PMID:18042262
Q0275097146130130Natural variantID=VAR_035094;Note=In CFC3. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16439621;Dbxref=dbSNP:rs121908595,PMID:16439621
Q0275097146143146Nucleotide bindingNote=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
Q0275097146144146RegionNote=Inhibitor binding
Q02750146172147172Alternative sequenceID=VSP_040500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1281467;Dbxref=PMID:1281467
Q027501461721393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q0275014617268361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q02750146172151158HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172163184HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172150150MutagenesisNote=No loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q02750146172143146Nucleotide bindingNote=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
Q02750146172150153Nucleotide bindingNote=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
Q02750146172144146RegionNote=Inhibitor binding

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q027509714693100Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146129135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146138143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797Binding siteNote=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
Q02750971469797Binding siteNote=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
Q02750971461393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q027509714668361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q0275097146105115HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146116120HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797MutagenesisNote=Inactivation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q0275097146128128Natural variantID=VAR_069780;Note=In CFC3. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18042262;Dbxref=dbSNP:rs730880508,PMID:18042262
Q0275097146130130Natural variantID=VAR_035094;Note=In CFC3. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16439621;Dbxref=dbSNP:rs121908595,PMID:16439621
Q0275097146143146Nucleotide bindingNote=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
Q0275097146144146RegionNote=Inhibitor binding
Q02750146172147172Alternative sequenceID=VSP_040500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1281467;Dbxref=PMID:1281467
Q027501461721393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q0275014617268361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q02750146172151158HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172163184HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172150150MutagenesisNote=No loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q02750146172143146Nucleotide bindingNote=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
Q02750146172150153Nucleotide bindingNote=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
Q02750146172144146RegionNote=Inhibitor binding

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q027509714693100Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146129135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146138143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797Binding siteNote=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
Q02750971469797Binding siteNote=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
Q02750971461393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q027509714668361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q0275097146105115HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q0275097146116120HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750971469797MutagenesisNote=Inactivation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q0275097146128128Natural variantID=VAR_069780;Note=In CFC3. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18042262;Dbxref=dbSNP:rs730880508,PMID:18042262
Q0275097146130130Natural variantID=VAR_035094;Note=In CFC3. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16439621;Dbxref=dbSNP:rs121908595,PMID:16439621
Q0275097146143146Nucleotide bindingNote=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
Q0275097146144146RegionNote=Inhibitor binding
Q02750146172147172Alternative sequenceID=VSP_040500;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1281467;Dbxref=PMID:1281467
Q027501461721393ChainID=PRO_0000086365;Note=Dual specificity mitogen-activated protein kinase kinase 1
Q0275014617268361DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q02750146172151158HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172163184HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EQC
Q02750146172150150MutagenesisNote=No loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8131746;Dbxref=PMID:8131746
Q02750146172143146Nucleotide bindingNote=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
Q02750146172150153Nucleotide bindingNote=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
Q02750146172144146RegionNote=Inhibitor binding


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3'-UTR located exon skipping events that lost miRNA binding sites in MAP2K1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for MAP2K1

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for MAP2K1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP2K1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for MAP2K1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTRA2Aexon_skip_27214-4.495836e-012.767994e-09

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RelatedDrugs for MAP2K1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q02750approved|investigationalDB05239Cobimetinibsmall moleculeQ02750
Q02750approvedDB06616Bosutinibsmall moleculeQ02750
Q02750approvedDB08911Trametinibsmall moleculeQ02750

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RelatedDiseases for MAP2K1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource