ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MAP3K4

Gene summary

Gene information	Gene symbol	MAP3K4
	Gene ID	4216
	Gene name	mitogen-activated protein kinase kinase kinase 4
	Synonyms	MAPKKK4\|MEKK 4\|MEKK4\|MTK1\|PRO0412
	Cytomap	6q26
	Type of gene	protein-coding
	Description	mitogen-activated protein kinase kinase kinase 4MAP three kinase 1MAP/ERK kinase kinase 4MAPK/ERK kinase kinase 4MEK kinase 4SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog ofdJ473J16.1 (mitogen-activated protein kinase kinase kinase 4)predicte
	Modification date	20180524
	UniProtAcc	Q9Y6R4
	Context	PubMed: MAP3K4 [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
MAP3K4	GO:0000186	activation of MAPKK activity	9305639\|9827804
MAP3K4	GO:0043507	positive regulation of JUN kinase activity	9305639
MAP3K4	GO:1900745	positive regulation of p38MAPK cascade	9305639

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Exon skipping events across known transcript of Ensembl for MAP3K4 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 MAP3K4

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 MAP3K4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455347	6	161412875:161413115:161455290:161455481:161469647:161469835	161455290:161455481	ENSG00000085511.15	ENST00000348824.7,ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000490904.2
exon_skip_455351	6	161455389:161455481:161469277:161469323:161469647:161469835	161469277:161469323	ENSG00000085511.15	ENST00000446500.1
exon_skip_455353	6	161455389:161455481:161469647:161471011:161491639:161491882	161469647:161471011	ENSG00000085511.15	ENST00000348824.7,ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000366919.2
exon_skip_455355	6	161469647:161471011:161488230:161488328:161491639:161491882	161488230:161488328	ENSG00000085511.15	ENST00000490904.2
exon_skip_455356	6	161469647:161471011:161491639:161491882:161494497:161494568	161491639:161491882	ENSG00000085511.15	ENST00000348824.7,ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000366919.2
exon_skip_455357	6	161508719:161508986:161510353:161510503:161512410:161512572	161510353:161510503	ENSG00000085511.15	ENST00000348824.7,ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000366919.2,ENST00000490904.2
exon_skip_455358	6	161514804:161514871:161518111:161518208:161522923:161523024	161518111:161518208	ENSG00000085511.15	ENST00000348824.7
exon_skip_455360	6	161514804:161514883:161518111:161518208:161522923:161523024	161518111:161518208	ENSG00000085511.15	ENST00000366919.2
exon_skip_455363	6	161518197:161518208:161519309:161519459:161522923:161523024	161519309:161519459	ENSG00000085511.15	ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000490904.2,ENST00000541901.1
exon_skip_455365	6	161527545:161527737:161528930:161529001:161529774:161529786	161528930:161529001	ENSG00000085511.15	ENST00000536852.1,ENST00000544733.1,ENST00000348824.7,ENST00000366920.2,ENST00000544041.1,ENST00000392142.4,ENST00000366919.2,ENST00000490904.2,ENST00000541901.1
exon_skip_455369	6	161529774:161529891:161529982:161530073:161530786:161530918	161529982:161530073	ENSG00000085511.15	ENST00000544041.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MAP3K4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455347	6	161412875:161413115:161455290:161455481:161469647:161469835	161455290:161455481	ENSG00000085511.15	ENST00000392142.4,ENST00000366920.2,ENST00000348824.7,ENST00000544041.1,ENST00000490904.2
exon_skip_455351	6	161455389:161455481:161469277:161469323:161469647:161469835	161469277:161469323	ENSG00000085511.15	ENST00000446500.1
exon_skip_455352	6	161455389:161455481:161469647:161471011:161488230:161488328	161469647:161471011	ENSG00000085511.15	ENST00000490904.2
exon_skip_455353	6	161455389:161455481:161469647:161471011:161491639:161491882	161469647:161471011	ENSG00000085511.15	ENST00000366919.2,ENST00000392142.4,ENST00000366920.2,ENST00000348824.7,ENST00000544041.1
exon_skip_455355	6	161469647:161471011:161488230:161488328:161491639:161491882	161488230:161488328	ENSG00000085511.15	ENST00000490904.2
exon_skip_455356	6	161469647:161471011:161491639:161491882:161494497:161494568	161491639:161491882	ENSG00000085511.15	ENST00000366919.2,ENST00000392142.4,ENST00000366920.2,ENST00000348824.7,ENST00000544041.1
exon_skip_455357	6	161508719:161508986:161510353:161510503:161512410:161512572	161510353:161510503	ENSG00000085511.15	ENST00000366919.2,ENST00000392142.4,ENST00000366920.2,ENST00000348824.7,ENST00000544041.1,ENST00000490904.2
exon_skip_455358	6	161514804:161514871:161518111:161518208:161522923:161523024	161518111:161518208	ENSG00000085511.15	ENST00000348824.7
exon_skip_455360	6	161514804:161514883:161518111:161518208:161522923:161523024	161518111:161518208	ENSG00000085511.15	ENST00000366919.2
exon_skip_455363	6	161518197:161518208:161519309:161519459:161522923:161523024	161519309:161519459	ENSG00000085511.15	ENST00000392142.4,ENST00000366920.2,ENST00000544041.1,ENST00000490904.2,ENST00000541901.1
exon_skip_455365	6	161527545:161527737:161528930:161529001:161529774:161529786	161528930:161529001	ENSG00000085511.15	ENST00000366919.2,ENST00000392142.4,ENST00000366920.2,ENST00000348824.7,ENST00000544041.1,ENST00000490904.2,ENST00000541901.1,ENST00000544733.1,ENST00000536852.1
exon_skip_455369	6	161529774:161529891:161529982:161530073:161530786:161530918	161529982:161530073	ENSG00000085511.15	ENST00000544041.1

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 MAP3K4

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
ENST00000392142	161455290	161455481	Frame-shift
ENST00000392142	161469647	161471011	Frame-shift
ENST00000392142	161528930	161529001	Frame-shift
ENST00000392142	161491639	161491882	In-frame
ENST00000392142	161510353	161510503	In-frame
ENST00000392142	161519309	161519459	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
ENST00000392142	161455290	161455481	Frame-shift
ENST00000392142	161469647	161471011	Frame-shift
ENST00000392142	161528930	161529001	Frame-shift
ENST00000392142	161491639	161491882	In-frame
ENST00000392142	161510353	161510503	In-frame
ENST00000392142	161519309	161519459	In-frame

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Infer the effects of exon skipping event on protein functional features for MAP3K4

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
ENST00000392142	5507	1608	161491639	161491882	1856	2098	569	650
ENST00000392142	5507	1608	161510353	161510503	2972	3121	941	991
ENST00000392142	5507	1608	161519309	161519459	3673	3822	1175	1224

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
ENST00000392142	5507	1608	161491639	161491882	1856	2098	569	650
ENST00000392142	5507	1608	161510353	161510503	2972	3121	941	991
ENST00000392142	5507	1608	161519309	161519459	3673	3822	1175	1224

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
Q9Y6R4	569	650	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	569	650	584	584	Natural variant	ID=VAR_040689;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34018542,PMID:17344846
Q9Y6R4	941	991	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	1175	1224	1175	1224	Alternative sequence	ID=VSP_004884;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9039502;Dbxref=PMID:15489334,PMID:9039502
Q9Y6R4	1175	1224	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	1175	1224	1190	1202	Compositional bias	Note=Poly-Ala
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1199	1199	Sequence conflict	Note=Missing;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
Q9Y6R4	569	650	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	569	650	584	584	Natural variant	ID=VAR_040689;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34018542,PMID:17344846
Q9Y6R4	941	991	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	1175	1224	1175	1224	Alternative sequence	ID=VSP_004884;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9039502;Dbxref=PMID:15489334,PMID:9039502
Q9Y6R4	1175	1224	1	1608	Chain	ID=PRO_0000086247;Note=Mitogen-activated protein kinase kinase kinase 4
Q9Y6R4	1175	1224	1190	1202	Compositional bias	Note=Poly-Ala
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1190	1190	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y6R4	1175	1224	1199	1199	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305

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SNVs in the skipped exons for MAP3K4

- 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.

MAP3K4_COAD_exon_skip_455353_psi_boxplot.png
boxplot

MAP3K4_ESCA_exon_skip_455353_psi_boxplot.png
boxplot

MAP3K4_HNSC_exon_skip_455353_psi_boxplot.png
boxplot

MAP3K4_STAD_exon_skip_455353_psi_boxplot.png
boxplot

- 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
ESCA	TCGA-L5-A43J-01	exon_skip_455347	161455291	161455481	161455391	161455391	Frame_Shift_Del	C	-	p.P86fs
ESCA	TCGA-L5-A43J-01	exon_skip_455347	161455291	161455481	161455391	161455391	Frame_Shift_Del	C	-	p.S84fs
ESCA	TCGA-L5-A43J-01	exon_skip_455347	161455291	161455481	161455391	161455391	Frame_Shift_Del	C	-	p.S87fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455347	161455291	161455481	161455391	161455391	Frame_Shift_Del	C	-	p.S84fs
STAD	TCGA-BR-6452-01	exon_skip_455347	161455291	161455481	161455391	161455391	Frame_Shift_Del	C	-	p.S84fs
COAD	TCGA-CM-4746-01	exon_skip_455353	161469648	161471011	161469691	161469691	Frame_Shift_Del	A	-	p.G129fs
STAD	TCGA-BR-4292-01	exon_skip_455353	161469648	161471011	161469778	161469778	Frame_Shift_Del	A	-	p.K158fs
STAD	TCGA-CD-A4MG-01	exon_skip_455353	161469648	161471011	161469778	161469778	Frame_Shift_Del	A	-	p.K158fs
STAD	TCGA-HU-A4GQ-01	exon_skip_455353	161469648	161471011	161469778	161469778	Frame_Shift_Del	A	-	p.K158fs
LIHC	TCGA-DD-A1EG-01	exon_skip_455353	161469648	161471011	161469827	161469827	Frame_Shift_Del	C	-	p.P175fs
COAD	TCGA-AD-6889-01	exon_skip_455353	161469648	161471011	161469829	161469829	Frame_Shift_Del	A	-	p.P175fs
COAD	TCGA-AZ-6601-01	exon_skip_455353	161469648	161471011	161469829	161469829	Frame_Shift_Del	A	-	p.P175fs
UCEC	TCGA-A5-A0GH-01	exon_skip_455353	161469648	161471011	161469829	161469829	Frame_Shift_Del	A	-	p.P175fs
KIRP	TCGA-WN-AB4C-01	exon_skip_455353	161469648	161471011	161470102	161470103	Frame_Shift_Del	AG	-	p.266_266del
UCEC	TCGA-AP-A0L8-01	exon_skip_455353	161469648	161471011	161470176	161470176	Frame_Shift_Del	T	-	p.I291fs
LIHC	TCGA-DD-A39Y-01	exon_skip_455353	161469648	161471011	161470190	161470190	Frame_Shift_Del	A	-	p.N296fs
LIHC	TCGA-DD-A3A0-01	exon_skip_455353	161469648	161471011	161470596	161470596	Frame_Shift_Del	C	-	p.S431fs
COAD	TCGA-AA-A00J-01	exon_skip_455353	161469648	161471011	161470660	161470661	Frame_Shift_Del	GG	-	p.452_453del
BRCA	TCGA-BH-A0BP-01	exon_skip_455353	161469648	161471011	161470713	161470713	Frame_Shift_Del	G	-	p.V471fs
LIHC	TCGA-BC-A3KG-01	exon_skip_455353	161469648	161471011	161470722	161470722	Frame_Shift_Del	A	-	p.E473fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455356	161491640	161491882	161491649	161491649	Frame_Shift_Del	T	-	p.F573fs
LIHC	TCGA-DD-A3A0-01	exon_skip_455360 exon_skip_455358	161518112	161518208	161518188	161518188	Frame_Shift_Del	C	-	p.I1168fs
UCEC	TCGA-BG-A0M0-01	exon_skip_455347	161455291	161455481	161455390	161455391	Frame_Shift_Ins	-	C	p.S84fs
STAD	TCGA-D7-6528-01	exon_skip_455353	161469648	161471011	161469775	161469776	Frame_Shift_Ins	-	A	p.R157fs
STAD	TCGA-R5-A7ZI-01	exon_skip_455353	161469648	161471011	161469775	161469776	Frame_Shift_Ins	-	A	p.R157fs
STAD	TCGA-R5-A7ZI-01	exon_skip_455353	161469648	161471011	161469775	161469776	Frame_Shift_Ins	-	A	p.RK157fs
STAD	TCGA-D7-6528-01	exon_skip_455353	161469648	161471011	161469776	161469777	Frame_Shift_Ins	-	A	p.R157fs
STAD	TCGA-D7-6528-01	exon_skip_455353	161469648	161471011	161469777	161469778	Frame_Shift_Ins	-	A	p.K158fs
COAD	TCGA-AA-3663-01	exon_skip_455353	161469648	161471011	161469828	161469829	Frame_Shift_Ins	-	A	p.P175fs
COAD	TCGA-CM-6171-01	exon_skip_455353	161469648	161471011	161469828	161469829	Frame_Shift_Ins	-	A	p.P175fs
BLCA	TCGA-FD-A3B3-01	exon_skip_455347	161455291	161455481	161455436	161455436	Nonsense_Mutation	C	T	p.Q100*
KIRP	TCGA-DW-7840-01	exon_skip_455353	161469648	161471011	161470014	161470014	Nonsense_Mutation	C	A	p.S237*
KIRP	TCGA-DW-7840-01	exon_skip_455353	161469648	161471011	161470014	161470014	Nonsense_Mutation	C	A	p.S237X
HNSC	TCGA-CN-4723-01	exon_skip_455353	161469648	161471011	161470020	161470020	Nonsense_Mutation	C	G	p.S239*
HNSC	TCGA-CQ-A4C6-01	exon_skip_455353	161469648	161471011	161470317	161470317	Nonsense_Mutation	C	G	p.S338*
BRCA	TCGA-A2-A25A-01	exon_skip_455353	161469648	161471011	161470388	161470388	Nonsense_Mutation	G	T	p.E362*
LIHC	TCGA-FV-A3I1-01	exon_skip_455353	161469648	161471011	161470524	161470524	Nonsense_Mutation	T	G	p.L407*
LIHC	TCGA-FV-A3I1-01	exon_skip_455353	161469648	161471011	161470524	161470524	Nonsense_Mutation	T	G	p.L407X
ESCA	TCGA-L5-A8NH-01	exon_skip_455353	161469648	161471011	161470619	161470619	Nonsense_Mutation	G	T	p.E439*
ESCA	TCGA-L5-A8NH-01	exon_skip_455353	161469648	161471011	161470619	161470619	Nonsense_Mutation	G	T	p.E439X
UCEC	TCGA-B5-A11E-01	exon_skip_455353	161469648	161471011	161470619	161470619	Nonsense_Mutation	G	T	p.E439*
ESCA	TCGA-LN-A49P-01	exon_skip_455353	161469648	161471011	161470625	161470625	Nonsense_Mutation	G	T	p.E441*
ESCA	TCGA-LN-A49P-01	exon_skip_455353	161469648	161471011	161470625	161470625	Nonsense_Mutation	G	T	p.E441X

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-LN-A49P-01
	Cancer type: ESCA
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161470625
	Mutation end: 161470625
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E441X
	Sample: TCGA-LN-A49P-01
	Cancer type: ESCA
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161470625
	Mutation end: 161470625
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E441*
exon_skip_314071_ESCA_TCGA-LN-A49P-01.png
exon_skip_455353_ESCA_TCGA-LN-A49P-01.png
	Sample: TCGA-L5-A8NH-01
	Cancer type: ESCA
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161470619
	Mutation end: 161470619
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E439X
	Sample: TCGA-L5-A8NH-01
	Cancer type: ESCA
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161470619
	Mutation end: 161470619
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E439*
exon_skip_17970_ESCA_TCGA-L5-A8NH-01.png
exon_skip_313855_ESCA_TCGA-L5-A8NH-01.png
exon_skip_37386_ESCA_TCGA-L5-A8NH-01.png
exon_skip_37388_ESCA_TCGA-L5-A8NH-01.png
exon_skip_455353_ESCA_TCGA-L5-A8NH-01.png
exon_skip_464954_ESCA_TCGA-L5-A8NH-01.png
	Sample: TCGA-D7-6528-01
	Cancer type: STAD
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161469775
	Mutation end: 161469776
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.R157fs
	Sample: TCGA-D7-6528-01
	Cancer type: STAD
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161469777
	Mutation end: 161469778
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.K158fs
	Sample: TCGA-D7-6528-01
	Cancer type: STAD
	ESID: exon_skip_455353
	Skipped exon start: 161469648
	Skipped exon end: 161471011
	Mutation start: 161469776
	Mutation end: 161469777
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.R157fs
exon_skip_455353_STAD_TCGA-D7-6528-01.png

- 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
HEC151_ENDOMETRIUM	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
HEC265_ENDOMETRIUM	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
HEC59_ENDOMETRIUM	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
SNUC2A_LARGE_INTESTINE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
SNUC4_LARGE_INTESTINE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
HCT116_LARGE_INTESTINE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
AN3CA_ENDOMETRIUM	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
CW2_LARGE_INTESTINE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
SNUC2B_LARGE_INTESTINE	161469648	161471011	161469776	161469776	Frame_Shift_Del	A	-	p.K159fs
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161469829	161469829	Frame_Shift_Del	A	-	p.P175fs
MFE296_ENDOMETRIUM	161469648	161471011	161469829	161469829	Frame_Shift_Del	A	-	p.P175fs
MKN45_STOMACH	161469648	161471011	161470484	161470487	Frame_Shift_Del	TGTT	-	p.CL394fs
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161470722	161470722	Frame_Shift_Del	A	-	p.E473fs
AN3CA_ENDOMETRIUM	161469648	161471011	161469828	161469829	Frame_Shift_Ins	-	A	p.PK175fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161469828	161469829	Frame_Shift_Ins	-	A	p.PK175fs
SNU520_STOMACH	161519310	161519459	161519382	161519384	In_Frame_Del	TGT	-	p.V1200del
CADOES1_BONE	161455291	161455481	161455338	161455338	Missense_Mutation	A	T	p.D67V
KYSE180_OESOPHAGUS	161455291	161455481	161455338	161455338	Missense_Mutation	A	T	p.D67V
DMS454_LUNG	161455291	161455481	161455383	161455383	Missense_Mutation	G	C	p.G82A
GP2D_LARGE_INTESTINE	161455291	161455481	161455457	161455457	Missense_Mutation	C	T	p.P107S
GP5D_LARGE_INTESTINE	161455291	161455481	161455457	161455457	Missense_Mutation	C	T	p.P107S
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161455291	161455481	161455467	161455467	Missense_Mutation	G	A	p.R110Q
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161455291	161455481	161455467	161455467	Missense_Mutation	G	A	p.R110Q
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161455291	161455481	161455467	161455467	Missense_Mutation	G	A	p.R110Q
ONS76_CENTRAL_NERVOUS_SYSTEM	161455291	161455481	161455470	161455470	Missense_Mutation	C	T	p.S111F
NCIH740_LUNG	161469648	161471011	161469674	161469674	Missense_Mutation	C	T	p.P124S
JHH1_LIVER	161469648	161471011	161469837	161469837	Missense_Mutation	C	T	p.S178L
5637_URINARY_TRACT	161469648	161471011	161469839	161469839	Missense_Mutation	A	G	p.I179V
FU97_STOMACH	161469648	161471011	161469882	161469882	Missense_Mutation	G	A	p.C193Y
SBC5_LUNG	161469648	161471011	161469920	161469920	Missense_Mutation	A	T	p.I206L
JHUEM7_ENDOMETRIUM	161469648	161471011	161469969	161469969	Missense_Mutation	G	A	p.R222H
RCCAB_KIDNEY	161469648	161471011	161470080	161470080	Missense_Mutation	G	T	p.R259L
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161470083	161470083	Missense_Mutation	C	A	p.S260Y
HT115_LARGE_INTESTINE	161469648	161471011	161470088	161470088	Missense_Mutation	G	A	p.E262K
SNU1040_LARGE_INTESTINE	161469648	161471011	161470124	161470124	Missense_Mutation	G	A	p.G274R
M00921_SKIN	161469648	161471011	161470271	161470271	Missense_Mutation	G	A	p.E323K
SNU81_LARGE_INTESTINE	161469648	161471011	161470303	161470303	Missense_Mutation	G	T	p.K333N
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161469648	161471011	161470349	161470349	Missense_Mutation	G	T	p.V349F
MM386_SKIN	161469648	161471011	161470413	161470413	Missense_Mutation	C	T	p.S370L
M1203273_SKIN	161469648	161471011	161470592	161470592	Missense_Mutation	C	T	p.P430S
YH13_CENTRAL_NERVOUS_SYSTEM	161469648	161471011	161470677	161470677	Missense_Mutation	C	T	p.T458M
NCIBL128_MATCHED_NORMAL_TISSUE	161469648	161471011	161470677	161470677	Missense_Mutation	C	T	p.T458M
NCIH128_LUNG	161469648	161471011	161470677	161470677	Missense_Mutation	C	T	p.T458M
HEC108_ENDOMETRIUM	161469648	161471011	161470743	161470743	Missense_Mutation	A	G	p.N480S
HCT15_LARGE_INTESTINE	161469648	161471011	161470754	161470754	Missense_Mutation	A	G	p.I484V
HRT18_LARGE_INTESTINE	161469648	161471011	161470754	161470754	Missense_Mutation	A	G	p.I484V
LS513_LARGE_INTESTINE	161469648	161471011	161470875	161470875	Missense_Mutation	C	T	p.S524F
HCC1588_LUNG	161469648	161471011	161470875	161470875	Missense_Mutation	C	T	p.S524F
RMGI_OVARY	161469648	161471011	161470895	161470895	Missense_Mutation	G	T	p.D531Y
MDAMB157_BREAST	161469648	161471011	161470916	161470916	Missense_Mutation	G	A	p.G538R
HEC251_ENDOMETRIUM	161469648	161471011	161470923	161470923	Missense_Mutation	G	T	p.R540I
MDAMB436_BREAST	161469648	161471011	161470992	161470992	Missense_Mutation	A	C	p.K563T
ASH3_THYROID	161491640	161491882	161491668	161491668	Missense_Mutation	G	A	p.G579D
PK1_PANCREAS	161491640	161491882	161491673	161491673	Missense_Mutation	G	C	p.D581H
OE19_OESOPHAGUS	161491640	161491882	161491784	161491784	Missense_Mutation	G	A	p.V618I
COLO741_SKIN	161491640	161491882	161491860	161491860	Missense_Mutation	C	T	p.P643L
KE39_STOMACH	161510354	161510503	161510363	161510363	Missense_Mutation	C	A	p.L945I
SNU520_STOMACH	161518112	161518208	161518133	161518133	Missense_Mutation	G	A	p.R1150H
RERFLCAD2_LUNG	161518112	161518208	161518140	161518140	Missense_Mutation	G	A	p.M1152I
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161518112	161518208	161518199	161518199	Missense_Mutation	A	T	p.E1172V
HUH1_LIVER	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
SBC5_LUNG	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
GI1_CENTRAL_NERVOUS_SYSTEM	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
NCIH1155_LUNG	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
TE6_OESOPHAGUS	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
HS739T_FIBROBLAST	161519310	161519459	161519441	161519441	Missense_Mutation	G	A	p.S1219N
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161528931	161529001	161528978	161528978	Missense_Mutation	G	A	p.G1366R
GAK_SKIN	161528931	161529001	161528978	161528978	Missense_Mutation	G	A	p.G1366R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161528931	161529001	161528978	161528978	Missense_Mutation	G	A	p.G1366R
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	161528931	161529001	161528978	161528978	Missense_Mutation	G	A	p.G1366R
DV90_LUNG	161469648	161471011	161469992	161469992	Nonsense_Mutation	C	T	p.R230*
SKMEL30_SKIN	161469648	161471011	161470821	161470821	Nonsense_Mutation	G	A	p.W506*
NCIH1573_LUNG	161491640	161491882	161491881	161491881	Splice_Site	A	T	p.Q650L
HEC265_ENDOMETRIUM	161518112	161518208	161518207	161518207	Splice_Site	A	G	p.S1175G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP3K4

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 MAP3K4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP3K4

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RelatedDrugs for MAP3K4

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
	Q9Y6R4	DB12010	Fostamatinib	Mitogen-activated protein kinase kinase kinase 4	small molecule	approved\|investigational

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RelatedDiseases for MAP3K4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MAP3K4	C0014170	Endometrial Neoplasms	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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