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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 MAP4K3

check button Gene summary
Gene informationGene symbol

MAP4K3

Gene ID

8491

Gene namemitogen-activated protein kinase kinase kinase kinase 3
SynonymsGLK|MAPKKKK3|MEKKK 3|MEKKK3|RAB8IPL1
Cytomap

2p22.1

Type of geneprotein-coding
Descriptionmitogen-activated protein kinase kinase kinase kinase 3MAPK/ERK kinase kinase kinase 3MEK kinase kinase 3germinal center kinase-like kinasegerminal center kinase-related protein kinase
Modification date20180523
UniProtAcc

Q8IVH8

ContextPubMed: MAP4K3 [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
MAP4K3

GO:0006468

protein phosphorylation

9275185

MAP4K3

GO:0009411

response to UV

9275185

MAP4K3

GO:0034612

response to tumor necrosis factor

9275185

MAP4K3

GO:0035556

intracellular signal transduction

9275185


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Exon skipping events across known transcript of Ensembl for MAP4K3 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 MAP4K3

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 MAP4K3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_338513239477233:39477846:39478970:39479026:39481590:3948166139478970:39479026ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338514239478970:39479026:39481590:39481661:39485488:3948558139481590:39481661ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338516239485488:39485581:39485659:39485728:39487746:3948791839485659:39485728ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338520239492343:39492447:39494329:39494388:39499423:3949954139494329:39494388ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338523239499423:39499541:39499622:39499683:39505547:3950556039499622:39499683ENSG00000011566.10ENST00000495648.3,ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338524239505547:39505627:39507412:39507497:39509653:3950969239507412:39507497ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338526239507412:39507497:39509653:39509695:39513992:3951410539509653:39509695ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338529239513992:39514105:39515261:39515421:39517432:3951747539515261:39515421ENSG00000011566.10ENST00000341681.5,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338530239526883:39526942:39530214:39530258:39535083:3953514639530214:39530258ENSG00000011566.10ENST00000414968.1,ENST00000536018.1
exon_skip_338532239526883:39526942:39535083:39535146:39536601:3953666039535083:39535146ENSG00000011566.10ENST00000263881.3
exon_skip_338533239530214:39530258:39535083:39535146:39536601:3953666039535083:39535146ENSG00000011566.10ENST00000414968.1,ENST00000536018.1
exon_skip_338534239542450:39542529:39552658:39552769:39552870:3955295239552658:39552769ENSG00000011566.10ENST00000341681.5,ENST00000414968.1,ENST00000536018.1,ENST00000437545.1,ENST00000263881.3
exon_skip_338535239560672:39560715:39564060:39564108:39564666:3956472239564060:39564108ENSG00000011566.10ENST00000341681.5,ENST00000437545.1,ENST00000263881.3
exon_skip_338538239570528:39570593:39583389:39583480:39605206:3960526439583389:39583480ENSG00000011566.10ENST00000341681.5,ENST00000437545.1,ENST00000263881.3,ENST00000429397.1
exon_skip_338539239583389:39583480:39605206:39605264:39664032:3966408939605206:39605264ENSG00000011566.10ENST00000341681.5,ENST00000429397.1,ENST00000484274.1

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

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Exon skipping events with PSIs in GTEx for MAP4K3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_338513239477233:39477846:39478970:39479026:39481590:3948166139478970:39479026ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338514239478970:39479026:39481590:39481661:39485488:3948558139481590:39481661ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338516239485488:39485581:39485659:39485728:39487746:3948791839485659:39485728ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338520239492343:39492447:39494329:39494388:39499423:3949954139494329:39494388ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338523239499423:39499541:39499622:39499683:39505547:3950556039499622:39499683ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1,ENST00000495648.3
exon_skip_338524239505547:39505627:39507412:39507497:39509653:3950969239507412:39507497ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338526239507412:39507497:39509653:39509695:39513992:3951410539509653:39509695ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338529239513992:39514105:39515261:39515421:39517432:3951747539515261:39515421ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1
exon_skip_338530239526883:39526942:39530214:39530258:39535083:3953514639530214:39530258ENSG00000011566.10ENST00000536018.1,ENST00000414968.1
exon_skip_338532239526883:39526942:39535083:39535146:39536601:3953666039535083:39535146ENSG00000011566.10ENST00000263881.3
exon_skip_338533239530214:39530258:39535083:39535146:39536601:3953666039535083:39535146ENSG00000011566.10ENST00000536018.1,ENST00000414968.1
exon_skip_338534239542450:39542529:39552658:39552769:39552870:3955295239552658:39552769ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000536018.1,ENST00000414968.1
exon_skip_338535239560672:39560715:39564060:39564108:39564666:3956472239564060:39564108ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5
exon_skip_338538239570528:39570593:39583389:39583480:39605206:3960526439583389:39583480ENSG00000011566.10ENST00000263881.3,ENST00000437545.1,ENST00000341681.5,ENST00000429397.1
exon_skip_338539239583389:39583480:39605206:39605264:39664032:3966408939605206:39605264ENSG00000011566.10ENST00000341681.5,ENST00000429397.1,ENST00000484274.1

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 MAP4K3

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
ENST000002638813947897039479026Frame-shift
ENST000002638813948159039481661Frame-shift
ENST000002638813949432939494388Frame-shift
ENST000002638813949962239499683Frame-shift
ENST000002638813950741239507497Frame-shift
ENST000002638813951526139515421Frame-shift
ENST000002638813958338939583480Frame-shift
ENST000002638813948565939485728In-frame
ENST000002638813950965339509695In-frame
ENST000002638813953508339535146In-frame
ENST000002638813955265839552769In-frame
ENST000002638813956406039564108In-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
ENST000002638813947897039479026Frame-shift
ENST000002638813948159039481661Frame-shift
ENST000002638813949432939494388Frame-shift
ENST000002638813949962239499683Frame-shift
ENST000002638813950741239507497Frame-shift
ENST000002638813951526139515421Frame-shift
ENST000002638813958338939583480Frame-shift
ENST000002638813948565939485728In-frame
ENST000002638813950965339509695In-frame
ENST000002638813953508339535146In-frame
ENST000002638813955265839552769In-frame
ENST000002638813956406039564108In-frame

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Infer the effects of exon skipping event on protein functional features for MAP4K3

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
ENST0000026388143798943956406039564108692739122138
ENST000002638814379894395526583955276911331243269306
ENST000002638814379894395350833953514613821444352373
ENST000002638814379894395096533950969519131954529543
ENST000002638814379894394856593948572826342702769792

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
ENST0000026388143798943956406039564108692739122138
ENST000002638814379894395526583955276911331243269306
ENST000002638814379894395350833953514613821444352373
ENST000002638814379894395096533950969519131954529543
ENST000002638814379894394856593948572826342702769792

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
Q8IVH8122138136136Active siteNote=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH81221381894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH812213816273DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH8122138110129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH82693061894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH826930616273DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH8269306271274HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH8269306280289HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH8352373352372Alternative sequenceID=VSP_007053;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IVH83523731894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH85295431894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH87697921894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH8769792556867DomainNote=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795


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
Q8IVH8122138136136Active siteNote=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH81221381894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH812213816273DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH8122138110129HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH82693061894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH826930616273DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8IVH8269306271274HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH8269306280289HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J5T
Q8IVH8352373352372Alternative sequenceID=VSP_007053;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IVH83523731894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH85295431894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH87697921894ChainID=PRO_0000086277;Note=Mitogen-activated protein kinase kinase kinase kinase 3
Q8IVH8769792556867DomainNote=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795


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SNVs in the skipped exons for MAP4K3

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.

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_338513
39478971394790263947901139479011Frame_Shift_DelA-p.S853fs
LIHCTCGA-DD-A1EG-01exon_skip_338524
39507413395074973950747139507471Frame_Shift_DelA-p.F552fs
LIHCTCGA-DD-A1EG-01exon_skip_338529
39515262395154213951537239515372Frame_Shift_DelT-p.N455fs
LIHCTCGA-DD-A39Y-01exon_skip_338538
39583390395834803958344939583449Frame_Shift_DelA-p.I63fs
UCECTCGA-AX-A060-01exon_skip_338514
39481591394816613948162939481629Nonsense_MutationTAp.K835*
BLCATCGA-DK-A2I6-01exon_skip_338523
39499623394996833949967439499674Nonsense_MutationGAp.R602*
LUADTCGA-86-8278-01exon_skip_338529
39515262395154213951534239515342Nonsense_MutationGCp.S465*
GBMTCGA-76-4934-01exon_skip_338529
39515262395154213951536739515367Nonsense_MutationCAp.G457*
LUSCTCGA-63-5131-01exon_skip_338516
39485660394857283948572939485729Splice_SiteCTp.D770_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT39478971394790263947900439479004Missense_MutationCTp.S855N
SNUC5_LARGE_INTESTINE39481591394816613948164439481644Missense_MutationCTp.V830M
COGE352_BONE39485660394857283948569839485698Missense_MutationGTp.T780N
HCT15_LARGE_INTESTINE39494330394943883949436539494365Missense_MutationATp.I666N
JHUEM7_ENDOMETRIUM39494330394943883949438139494381Missense_MutationACp.S661A
SNU81_LARGE_INTESTINE39499623394996833949967339499673Missense_MutationCTp.R602Q
HCC2998_LARGE_INTESTINE39507413395074973950748839507488Missense_MutationACp.C547G
ES2_OVARY39515262395154213951533039515330Missense_MutationGTp.A469E
MDAMB436_BREAST39515262395154213951535339515353Missense_MutationTGp.R461S
BT474_BREAST39515262395154213951538439515384Missense_MutationGAp.T451I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39535084395351463953512639535126Missense_MutationCGp.L359F
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39535084395351463953512639535126Missense_MutationCGp.L359F
BICR18_UPPER_AERODIGESTIVE_TRACT39535084395351463953512639535126Missense_MutationCGp.L359F
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39535084395351463953513339535133Missense_MutationCTp.G357D
SW684_SOFT_TISSUE39552659395527693955266339552663Missense_MutationGAp.P305L
BICR18_UPPER_AERODIGESTIVE_TRACT39481591394816613948166039481660Splice_SiteCAp.V824V
HCC827GR5_LUNG39507413395074973950739339507413Splice_SiteATAAAAACACACAATACTACC-p.G572del
MCF7_BREAST39583390395834803958347839583480Splice_SiteCTC-p.G52del

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAP4K3

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_338538239570528:39570593:39583389:39583480:39605206:3960526439583389:39583480ENST00000341681.5,ENST00000437545.1,ENST00000263881.3,ENST00000429397.1PAADrs8545chr2:39583446A/G3.53e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP4K3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAP4K3


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RelatedDrugs for MAP4K3

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q8IVH8DB12010FostamatinibMitogen-activated protein kinase kinase kinase kinase 3small moleculeapproved|investigational

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RelatedDiseases for MAP4K3

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