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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MAP2K4

check button Gene summary
Gene informationGene symbol

MAP2K4

Gene ID

6416

Gene namemitogen-activated protein kinase kinase 4
SynonymsJNKK|JNKK1|MAPKK4|MEK4|MKK4|PRKMK4|SAPKK-1|SAPKK1|SEK1|SERK1|SKK1
Cytomap

17p12

Type of geneprotein-coding
Descriptiondual specificity mitogen-activated protein kinase kinase 4JNK-activated kinase 1JNK-activating kinase 1MAP kinase kinase 4MAPK/ERK kinase 4MAPKK 4MEK 4SAPK/ERK kinase 1c-Jun N-terminal kinase kinase 1stress-activated protein kinase kinase 1
Modification date20180523
UniProtAcc

P45985

ContextPubMed: MAP2K4 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for MAP2K4 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for MAP2K4

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for MAP2K4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1491851711924292:11924318:11935582:11935615:11958205:1195830811935582:11935615ENSG00000065559.10ENST00000415385.3
exon_skip_1491871711924292:11924318:11958205:11958308:11998891:1199901111958205:11958308ENSG00000065559.10ENST00000602375.1
exon_skip_1491891711924292:11924318:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000602686.1,ENST00000602811.1,ENST00000602537.1
exon_skip_1491921711924292:11924318:11998891:11999011:12013691:1201374311998891:11999011ENSG00000065559.10ENST00000538465.3
exon_skip_1491961711958205:11958308:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000582897.1
exon_skip_1492001711958205:11958308:11998891:11999011:12011106:1201122611998891:11999011ENSG00000065559.10ENST00000602375.1
exon_skip_1492021711973072:11973166:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000581941.1
exon_skip_1492051711984672:11984847:11998891:11999011:12011106:1201122611998891:11999011ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000602811.1,ENST00000581941.1,ENST00000602537.1
exon_skip_1492071711998918:11999011:12011106:12011226:12013691:1201374312011106:12011226ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000602375.1,ENST00000582377.1,ENST00000602811.1,ENST00000582183.1,ENST00000579089.1,ENST00000602305.1,ENST00000581941.1,ENST00000602537.1
exon_skip_1492101712028610:12028688:12032455:12032604:12043155:1204320112032455:12032604ENSG00000065559.10ENST00000353533.5,ENST00000602686.1,ENST00000415385.3,ENST00000602375.1,ENST00000602811.1,ENST00000536413.2,ENST00000602305.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for MAP2K4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1491851711924292:11924318:11935582:11935615:11958205:1195830811935582:11935615ENSG00000065559.10ENST00000415385.3
exon_skip_1491871711924292:11924318:11958205:11958308:11998891:1199901111958205:11958308ENSG00000065559.10ENST00000602375.1
exon_skip_1491891711924292:11924318:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000602811.1,ENST00000602686.1,ENST00000602537.1
exon_skip_1491921711924292:11924318:11998891:11999011:12013691:1201374311998891:11999011ENSG00000065559.10ENST00000538465.3
exon_skip_1491961711958205:11958308:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000582897.1
exon_skip_1492001711958205:11958308:11998891:11999011:12011106:1201122611998891:11999011ENSG00000065559.10ENST00000602375.1
exon_skip_1492021711973072:11973166:11984672:11984847:11998891:1199901111984672:11984847ENSG00000065559.10ENST00000581941.1
exon_skip_1492051711984672:11984847:11998891:11999011:12011106:1201122611998891:11999011ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000602811.1,ENST00000602537.1,ENST00000581941.1
exon_skip_1492071711998918:11999011:12011106:12011226:12013691:1201374312011106:12011226ENSG00000065559.10ENST00000353533.5,ENST00000582183.1,ENST00000415385.3,ENST00000602811.1,ENST00000602375.1,ENST00000602305.1,ENST00000602537.1,ENST00000581941.1,ENST00000579089.1,ENST00000582377.1
exon_skip_1492101712028610:12028688:12032455:12032604:12043155:1204320112032455:12032604ENSG00000065559.10ENST00000353533.5,ENST00000415385.3,ENST00000602811.1,ENST00000602375.1,ENST00000602305.1,ENST00000602686.1,ENST00000536413.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MAP2K4

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003535331198467211984847Frame-shift
ENST000003535331203245512032604Frame-shift
ENST000003535331199889111999011In-frame
ENST000003535331201110612011226In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003535331198467211984847Frame-shift
ENST000003535331203245512032604Frame-shift
ENST000003535331199889111999011In-frame
ENST000003535331201110612011226In-frame

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Infer the effects of exon skipping event on protein functional features for MAP2K4

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000035353338433991199889111999011457576131171
ENST0000035353338433991201110612011226577696171211

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000035353338433991199889111999011457576131171
ENST0000035353338433991201110612011226577696171211

check button 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 featureDescription of feature
P45985131171127134Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171164169Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171171178Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171131131Binding siteNote=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P459851311712399ChainID=PRO_0000086381;Note=Dual specificity mitogen-activated protein kinase kinase 4
P45985131171102367DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P45985131171139153HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171142142Natural variantID=VAR_040818;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
P45985131171154154Natural variantID=VAR_040819;Note=In a colorectal adenocarcinoma sample%3B somatic mutation. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
P45985171211171178Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211182184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P459851712112399ChainID=PRO_0000086381;Note=Dual specificity mitogen-activated protein kinase kinase 4
P45985171211102367DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P45985171211185194HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211202223HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211179179Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305


check button 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 featureDescription of feature
P45985131171127134Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171164169Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171171178Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171131131Binding siteNote=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P459851311712399ChainID=PRO_0000086381;Note=Dual specificity mitogen-activated protein kinase kinase 4
P45985131171102367DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P45985131171139153HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985131171142142Natural variantID=VAR_040818;Note=In a lung squamous cell carcinoma sample%3B somatic mutation. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
P45985131171154154Natural variantID=VAR_040819;Note=In a colorectal adenocarcinoma sample%3B somatic mutation. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
P45985171211171178Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211182184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P459851712112399ChainID=PRO_0000086381;Note=Dual specificity mitogen-activated protein kinase kinase 4
P45985171211102367DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
P45985171211185194HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211202223HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ALN
P45985171211179179Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for MAP2K4

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
MAP2K4_COAD_exon_skip_149207_psi_boxplot.png
boxplot
MAP2K4_STAD_exon_skip_149207_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198473211984732Frame_Shift_DelA-p.Q104fs
BRCATCGA-E2-A156-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198484011984856Frame_Shift_DelCAGTTAAAGTAGGTGAT-p.A129fs
LIHCTCGA-G3-A25V-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199892311998923Frame_Shift_DelA-p.Q142fs
LIHCTCGA-G3-A25V-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199892311998923Frame_Shift_DelA-p.Q153fs
STADTCGA-HF-7132-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199892311998923Frame_Shift_DelA-p.Q142fs
STADTCGA-F1-6177-01exon_skip_149207
12011107120112261201115512011155Frame_Shift_DelT-p.F188fs
STADTCGA-F1-6177-01exon_skip_149207
12011107120112261201115512011155Frame_Shift_DelT-p.K187fs
UCECTCGA-D1-A16N-01exon_skip_149207
12011107120112261201116212011184Frame_Shift_DelAATATGTATATAGTGTATTAGAT-p.K190fs
BRCATCGA-A2-A1G0-01exon_skip_149210
12032456120326041203251612032517Frame_Shift_DelAC-p.Q319fs
LIHCTCGA-DD-A1EG-01exon_skip_149210
12032456120326041203257412032574Frame_Shift_DelC-p.S348fs
LIHCTCGA-G3-A3CJ-01exon_skip_149210
12032456120326041203257412032574Frame_Shift_DelC-p.S348fs
BRCATCGA-E9-A1NI-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198478911984790Frame_Shift_Ins-Tp.Y113fs
UCSTCGA-ND-A4WC-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199892211998923Frame_Shift_Ins-Ap.K153fs
UCSTCGA-ND-A4WC-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199892211998923Frame_Shift_Ins-Ap.Q142fs
BRCATCGA-AN-A0XR-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199897111998972Frame_Shift_Ins-Cp.Y160fs
BRCATCGA-AO-A03T-01exon_skip_149207
12011107120112261201110812011109Frame_Shift_Ins-Tp.D173fs
BRCATCGA-AR-A1AU-01exon_skip_149210
12032456120326041203257012032571Frame_Shift_Ins-TCp.S339fs
STADTCGA-BR-4362-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198473111984731Nonsense_MutationCTp.Q93*
STADTCGA-BR-4362-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198473111984731Nonsense_MutationCTp.Q93X
UCECTCGA-BS-A0UJ-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198478211984782Nonsense_MutationCTp.R110*
BRCATCGA-A8-A07Z-01exon_skip_149192
exon_skip_149200
exon_skip_149205
11998892119990111199899311998993Nonsense_MutationTAp.Y165*
COADTCGA-CA-6718-01exon_skip_149207
12011107120112261201120012011200Nonsense_MutationGTp.E203X
BRCATCGA-C8-A1HO-01exon_skip_149207
12011107120112261201121212011212Nonsense_MutationATp.K207*
BRCATCGA-E2-A1IG-01exon_skip_149210
12032456120326041203245912032459Nonsense_MutationGTp.E299*
BRCATCGA-BH-A0W7-01exon_skip_149210
12032456120326041203251012032510Nonsense_MutationCTp.Q316*
LUADTCGA-50-6592-01exon_skip_149210
12032456120326041203256112032561Nonsense_MutationGTp.E344*
BRCATCGA-B6-A0IB-01exon_skip_149187
11958206119583081195830911958310Splice_Site-Te2+1
BRCATCGA-AC-A23E-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198467111984672Splice_SiteAG-e3-1
BRCATCGA-E2-A1BC-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198467111984672Splice_SiteAG-e3-1
STADTCGA-HU-8245-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198467111984671Splice_SiteAG.
STADTCGA-HU-8245-01exon_skip_149196
exon_skip_149189
exon_skip_149202
11984673119848471198467111984671Splice_SiteAGp.I73_splice
BRCATCGA-B6-A0RH-01exon_skip_149207
12011107120112261201122712011228Splice_Site-Te5+1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MAP2K4_11998918_11999011_12011106_12011226_12013691_12013743_TCGA-CA-6718-01Sample: TCGA-CA-6718-01
Cancer type: COAD
ESID: exon_skip_149207
Skipped exon start: 12011107
Skipped exon end: 12011226
Mutation start: 12011200
Mutation end: 12011200
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E203X
exon_skip_141986_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_149207_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_286384_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_30232_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_30235_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_317435_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_317461_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_387073_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_44936_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_501551_COAD_TCGA-CA-6718-01.png
boxplot
exon_skip_86037_COAD_TCGA-CA-6718-01.png
boxplot
MAP2K4_11958205_11958308_11984672_11984847_11998891_11999011_TCGA-E2-A156-01Sample: TCGA-E2-A156-01
Cancer type: BRCA
ESID: exon_skip_149202
Skipped exon start: 11984673
Skipped exon end: 11984847
Mutation start: 11984840
Mutation end: 11984856
Mutation type: Frame_Shift_Del
Reference seq: CAGTTAAAGTAGGTGAT
Mutation seq: -
AAchange: p.A129fs
exon_skip_149196_BRCA_TCGA-E2-A156-01.png
boxplot
MAP2K4_11924292_11924318_11958205_11958308_11998891_11999011_TCGA-B6-A0IB-01Sample: TCGA-B6-A0IB-01
Cancer type: BRCA
ESID: exon_skip_149187
Skipped exon start: 11958206
Skipped exon end: 11958308
Mutation start: 11958309
Mutation end: 11958310
Mutation type: Splice_Site
Reference seq: -
Mutation seq: T
AAchange: e2+1
exon_skip_149187_BRCA_TCGA-B6-A0IB-01.png
boxplot
exon_skip_43714_BRCA_TCGA-B6-A0IB-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM11958206119583081195829611958296Frame_Shift_DelA-p.Q69fs
HEC59_ENDOMETRIUM11958206119583081195821111958211Missense_MutationCTp.R41C
SNU1040_LARGE_INTESTINE11958206119583081195821211958212Missense_MutationGAp.R41H
NCIH69_LUNG11958206119583081195829011958290Missense_MutationGTp.G67V
COV644_OVARY11958206119583081195830611958306Missense_MutationCAp.H72Q
IGR1_SKIN11984673119848471198469311984693Missense_MutationGTp.S80I
VMRCLCD_LUNG11984673119848471198480011984800Missense_MutationGCp.V116L
CW2_LARGE_INTESTINE11984673119848471198482511984825Missense_MutationGAp.S124N
LS411N_LARGE_INTESTINE11998892119990111199889811998898Missense_MutationCTp.R134W
HCC2998_LARGE_INTESTINE11998892119990111199889811998898Missense_MutationCTp.R134W
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM11998892119990111199889911998899Missense_MutationGAp.R134Q
HCC2998_LARGE_INTESTINE11998892119990111199895811998958Missense_MutationCTp.R154W
HEC251_ENDOMETRIUM11998892119990111199899011998990Missense_MutationTGp.F164L
TUHR4TKB_KIDNEY12011107120112261201113012011130Missense_MutationACp.E179D
MDAMB134VI_BREAST12011107120112261201114412011144Missense_MutationCTp.S184L
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE12011107120112261201120012011200Missense_MutationGAp.E203K
SW626_OVARY12032456120326041203249112032491Missense_MutationGCp.K309N
H2369_PLEURA12032456120326041203253712032537Missense_MutationCGp.P325A
MFE319_ENDOMETRIUM12032456120326041203253812032538Missense_MutationCAp.P325H
HCC1569_BREAST12032456120326041203257712032577Missense_MutationCTp.P338L
SNU738_CENTRAL_NERVOUS_SYSTEM12032456120326041203259412032594Missense_MutationGTp.V344F
SNU81_LARGE_INTESTINE11984673119848471198477911984779Nonsense_MutationGTp.G109*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP2K4

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP2K4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP2K4


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RelatedDrugs for MAP2K4

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAP2K4

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