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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 MARK2

check button Gene summary
Gene informationGene symbol

MARK2

Gene ID

2011

Gene namemicrotubule affinity regulating kinase 2
SynonymsEMK-1|EMK1|PAR-1|Par-1b|Par1b
Cytomap

11q13.1

Type of geneprotein-coding
Descriptionserine/threonine-protein kinase MARK2ELKL motif kinase 1MAP/microtubule affinity-regulating kinase 2PAR1 homolog bSer/Thr protein kinase PAR-1Bserine/threonine protein kinase EMKtesticular tissue protein Li 117
Modification date20180523
UniProtAcc

Q7KZI7

ContextPubMed: MARK2 [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
MARK2

GO:0006468

protein phosphorylation

14976552

MARK2

GO:0010976

positive regulation of neuron projection development

12429843

MARK2

GO:0018105

peptidyl-serine phosphorylation

10542369

MARK2

GO:0030010

establishment of cell polarity

12429843

MARK2

GO:0035556

intracellular signal transduction

14976552

MARK2

GO:0045197

establishment or maintenance of epithelial cell apical/basal polarity

15324659

MARK2

GO:0070507

regulation of microtubule cytoskeleton organization

10542369


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Exon skipping events across known transcript of Ensembl for MARK2 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 MARK2

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 MARK2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_603331163636747:63636844:63647619:63647700:63662630:6366269863647619:63647700ENSG00000072518.16ENST00000540169.1
exon_skip_603341163656167:63656436:63657693:63657767:63662630:6366269863657693:63657767ENSG00000072518.16ENST00000512060.1
exon_skip_603351163665703:63665752:63666079:63666145:63666234:6366626563666079:63666145ENSG00000072518.16ENST00000361128.5,ENST00000543220.1,ENST00000413835.2,ENST00000377810.3,ENST00000408948.3,ENST00000513765.2,ENST00000350490.7,ENST00000502399.3,ENST00000377809.4,ENST00000425897.2,ENST00000508192.1,ENST00000509502.2,ENST00000540169.1,ENST00000402010.2,ENS
exon_skip_603361163668251:63668351:63668428:63668541:63669669:6366980263668428:63668541ENSG00000072518.16ENST00000361128.5,ENST00000413835.2,ENST00000377810.3,ENST00000408948.3,ENST00000513765.2,ENST00000350490.7,ENST00000502399.3,ENST00000377809.4,ENST00000425897.2,ENST00000508192.1,ENST00000509502.2,ENST00000402010.2,ENST00000315032.8
exon_skip_603381163669669:63669802:63670072:63670254:63670532:6367060463670072:63670254ENSG00000072518.16ENST00000361128.5,ENST00000413835.2,ENST00000513765.2,ENST00000377809.4,ENST00000402010.2,ENST00000315032.8
exon_skip_603401163669669:63669802:63670075:63670254:63670532:6367060463670075:63670254ENSG00000072518.16ENST00000377810.3,ENST00000408948.3,ENST00000350490.7,ENST00000502399.3,ENST00000425897.2,ENST00000508192.1,ENST00000509502.2
exon_skip_603411163670158:63670254:63670532:63670630:63671457:6367161963670532:63670630ENSG00000072518.16ENST00000513765.2,ENST00000502399.3,ENST00000377809.4,ENST00000509502.2,ENST00000402010.2,ENST00000315032.8
exon_skip_603421163670158:63670254:63670532:63670630:63672257:6367251563670532:63670630ENSG00000072518.16ENST00000361128.5,ENST00000413835.2,ENST00000377810.3,ENST00000408948.3,ENST00000350490.7,ENST00000508192.1
exon_skip_603451163670532:63670630:63671457:63671619:63672257:6367239363671457:63671619ENSG00000072518.16ENST00000513765.2,ENST00000502399.3,ENST00000377809.4,ENST00000509502.2,ENST00000402010.2,ENST00000315032.8
exon_skip_603521163672262:63672515:63673559:63673586:63675731:6367577663673559:63673586ENSG00000072518.16ENST00000413835.2,ENST00000513765.2,ENST00000402010.2
exon_skip_603531163672257:63672515:63673559:63673586:63676348:6367640363673559:63673586ENSG00000072518.16ENST00000361128.5,ENST00000377809.4
exon_skip_603561163672257:63672515:63675731:63675776:63676348:6367640363675731:63675776ENSG00000072518.16ENST00000377810.3,ENST00000408948.3,ENST00000502399.3,ENST00000425897.2,ENST00000508192.1,ENST00000509502.2,ENST00000315032.8
exon_skip_603591163673559:63673586:63675731:63675776:63676348:6367640363675731:63675776ENSG00000072518.16ENST00000413835.2,ENST00000513765.2,ENST00000402010.2

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

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Exon skipping events with PSIs in GTEx for MARK2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_603341163656167:63656436:63657693:63657767:63662630:6366269863657693:63657767ENSG00000072518.16ENST00000512060.1
exon_skip_603351163665703:63665752:63666079:63666145:63666234:6366626563666079:63666145ENSG00000072518.16ENST00000402010.2,ENST00000315032.8,ENST00000377809.4,ENST00000413835.2,ENST00000377810.3,ENST00000508192.1,ENST00000361128.5,ENST00000350490.7,ENST00000502399.3,ENST00000543220.1,ENST00000540169.1,ENST00000509502.2,ENST00000513765.2,ENST00000408948.3,ENS
exon_skip_603361163668251:63668351:63668428:63668541:63669669:6366980263668428:63668541ENSG00000072518.16ENST00000402010.2,ENST00000315032.8,ENST00000377809.4,ENST00000413835.2,ENST00000377810.3,ENST00000508192.1,ENST00000361128.5,ENST00000350490.7,ENST00000502399.3,ENST00000509502.2,ENST00000513765.2,ENST00000408948.3,ENST00000425897.2
exon_skip_603381163669669:63669802:63670072:63670254:63670532:6367060463670072:63670254ENSG00000072518.16ENST00000402010.2,ENST00000315032.8,ENST00000377809.4,ENST00000413835.2,ENST00000361128.5,ENST00000513765.2
exon_skip_603401163669669:63669802:63670075:63670254:63670532:6367060463670075:63670254ENSG00000072518.16ENST00000377810.3,ENST00000508192.1,ENST00000350490.7,ENST00000502399.3,ENST00000509502.2,ENST00000408948.3,ENST00000425897.2
exon_skip_603411163670158:63670254:63670532:63670630:63671457:6367161963670532:63670630ENSG00000072518.16ENST00000402010.2,ENST00000315032.8,ENST00000377809.4,ENST00000502399.3,ENST00000509502.2,ENST00000513765.2
exon_skip_603421163670158:63670254:63670532:63670630:63672257:6367251563670532:63670630ENSG00000072518.16ENST00000413835.2,ENST00000377810.3,ENST00000508192.1,ENST00000361128.5,ENST00000350490.7,ENST00000408948.3
exon_skip_603451163670532:63670630:63671457:63671619:63672257:6367239363671457:63671619ENSG00000072518.16ENST00000402010.2,ENST00000315032.8,ENST00000377809.4,ENST00000502399.3,ENST00000509502.2,ENST00000513765.2
exon_skip_603521163672262:63672515:63673559:63673586:63675731:6367577663673559:63673586ENSG00000072518.16ENST00000402010.2,ENST00000413835.2,ENST00000513765.2
exon_skip_603531163672257:63672515:63673559:63673586:63676348:6367640363673559:63673586ENSG00000072518.16ENST00000377809.4,ENST00000361128.5
exon_skip_603561163672257:63672515:63675731:63675776:63676348:6367640363675731:63675776ENSG00000072518.16ENST00000315032.8,ENST00000377810.3,ENST00000508192.1,ENST00000502399.3,ENST00000509502.2,ENST00000408948.3,ENST00000425897.2
exon_skip_603591163673559:63673586:63675731:63675776:63676348:6367640363675731:63675776ENSG00000072518.16ENST00000402010.2,ENST00000413835.2,ENST00000513765.2

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 MARK2

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
ENST000004020106366842863668541Frame-shift
ENST000004020106367007263670254Frame-shift
ENST000004020106367053263670630Frame-shift
ENST000004020106366607963666145In-frame
ENST000004020106367145763671619In-frame
ENST000004020106367355963673586In-frame
ENST000004020106367573163675776In-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
ENST000004020106366842863668541Frame-shift
ENST000004020106367007263670254Frame-shift
ENST000004020106367053263670630Frame-shift
ENST000004020106366607963666145In-frame
ENST000004020106367145763671619In-frame
ENST000004020106367355963673586In-frame
ENST000004020106367573163675776In-frame

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Infer the effects of exon skipping event on protein functional features for MARK2

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
ENST0000040201047457886366607963666145917982112134
ENST000004020104745788636714576367161920942255505558
ENST000004020104745788636757316367577625412585654668

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
ENST0000040201047457886366607963666145917982112134
ENST000004020104745788636714576367161920942255505558
ENST000004020104745788636757316367577625412585654668

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
Q7KZI7112134115120Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IEC
Q7KZI7112134122129Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IEC
Q7KZI71121341788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2
Q7KZI711213453304DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q7KZI7505558505558Alternative sequenceID=VSP_051706;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 7%2C isoform 9%2C isoform 10%2C isoform 13%2C isoform 15 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11433294,ECO:00
Q7KZI75055581788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2
Q7KZI7654668645668Alternative sequenceID=VSP_041853;Note=In isoform 15. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7KZI7654668654668Alternative sequenceID=VSP_051708;Note=In isoform 5%2C isoform 11%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11433294,ECO:0000303|PubMed:9730619,ECO:0000303|Ref.2;Dbxref=PMID:11433294,PMID:9730619
Q7KZI76546681788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2


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
Q7KZI7112134115120Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IEC
Q7KZI7112134122129Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IEC
Q7KZI71121341788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2
Q7KZI711213453304DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q7KZI7505558505558Alternative sequenceID=VSP_051706;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 7%2C isoform 9%2C isoform 10%2C isoform 13%2C isoform 15 and isoform 16. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11433294,ECO:00
Q7KZI75055581788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2
Q7KZI7654668645668Alternative sequenceID=VSP_041853;Note=In isoform 15. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q7KZI7654668654668Alternative sequenceID=VSP_051708;Note=In isoform 5%2C isoform 11%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11433294,ECO:0000303|PubMed:9730619,ECO:0000303|Ref.2;Dbxref=PMID:11433294,PMID:9730619
Q7KZI76546681788ChainID=PRO_0000086301;Note=Serine/threonine-protein kinase MARK2


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SNVs in the skipped exons for MARK2

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
BRCATCGA-D8-A1JK-01exon_skip_60338
exon_skip_60340
63670073636702546367012163670122Frame_Shift_DelAG-p.S396fs
BRCATCGA-D8-A1JK-01exon_skip_60338
exon_skip_60340
63670076636702546367012163670122Frame_Shift_DelAG-p.S396fs
LIHCTCGA-DD-A3A0-01exon_skip_60338
exon_skip_60340
63670073636702546367023863670238Frame_Shift_DelC-p.T467fs
LIHCTCGA-DD-A3A0-01exon_skip_60338
exon_skip_60340
63670076636702546367023863670238Frame_Shift_DelC-p.T467fs
STADTCGA-CG-4306-01exon_skip_60338
exon_skip_60340
63670073636702546367024463670244Frame_Shift_DelC-p.T469fs
STADTCGA-CG-4306-01exon_skip_60338
exon_skip_60340
63670076636702546367024463670244Frame_Shift_DelC-p.T469fs
BLCATCGA-E7-A519-01exon_skip_60341
exon_skip_60342
63670533636706306367055663670556Frame_Shift_DelA-p.T480fs
LIHCTCGA-DD-A3A0-01exon_skip_60341
exon_skip_60342
63670533636706306367057363670573Frame_Shift_DelC-p.S486fs
BLCATCGA-DK-A6B2-01exon_skip_60345
63671458636716196367158263671582Frame_Shift_DelC-p.P548fs
LUADTCGA-38-4631-01exon_skip_60335
63666080636661456366613063666130Nonsense_MutationGTp.E130*
BLCATCGA-FD-A3B6-01exon_skip_60336
63668429636685416366846163668461Nonsense_MutationGTp.E341*
LUADTCGA-78-7167-01exon_skip_60336
63668429636685416366852963668529Nonsense_MutationCGp.Y363*
BLCATCGA-DK-A1AC-01exon_skip_60336
63668429636685416366842863668428Splice_SiteGAp.E330_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_TRACT63670073636702546367015563670156Frame_Shift_DelGG-p.D406fs
BICR18_UPPER_AERODIGESTIVE_TRACT63670076636702546367015563670156Frame_Shift_DelGG-p.D406fs
BICR18_UPPER_AERODIGESTIVE_TRACT63670073636702546367015863670161Frame_Shift_DelCCGG-p.DR406fs
BICR18_UPPER_AERODIGESTIVE_TRACT63670076636702546367015863670161Frame_Shift_DelCCGG-p.DR406fs
JHUEM1_ENDOMETRIUM63671458636716196367158263671582Frame_Shift_DelC-p.P514fs
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63670073636702546367023763670238Frame_Shift_Ins-Cp.T433fs
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63670076636702546367023763670238Frame_Shift_Ins-Cp.T433fs
SNUC5_LARGE_INTESTINE63671458636716196367158163671582Frame_Shift_Ins-Cp.P513fs
LU134A_LUNG63668429636685416366845663668456Missense_MutationGCp.R306P
MELHO_SKIN63670073636702546367017263670172Missense_MutationGAp.R411Q
MELHO_SKIN63670076636702546367017263670172Missense_MutationGAp.R411Q
MELHO_SKIN63670073636702546367017263670173Missense_MutationGGAAp.R411Q
MELHO_SKIN63670076636702546367017263670173Missense_MutationGGAAp.R411Q
EBC1_LUNG63670073636702546367019063670190Missense_MutationCTp.A417V
EBC1_LUNG63670076636702546367019063670190Missense_MutationCTp.A417V
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63670073636702546367022963670229Missense_MutationAGp.K430R
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63670076636702546367022963670229Missense_MutationAGp.K430R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63670533636706306367060363670603Missense_MutationAGp.Q462R
HEC59_ENDOMETRIUM63671458636716196367149663671496Missense_MutationCTp.A484V
TC138_BONE63671458636716196367151463671514Missense_MutationCTp.A490V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE63671458636716196367151463671514Missense_MutationCTp.A490V
MESSA_SOFT_TISSUE63671458636716196367161263671612Missense_MutationCTp.R523W
NCIH2110_LUNG63673560636735866367357063673570Missense_MutationTGp.F595V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MARK2

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 MARK2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MARK2


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RelatedDrugs for MARK2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q7KZI7DB12010FostamatinibSerine/threonine-protein kinase MARK2small moleculeapproved|investigational

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RelatedDiseases for MARK2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
MARK2C0036341Schizophrenia2PSYGENET
MARK2C0010606Adenoid Cystic Carcinoma1CTD_human
MARK2C0036095Salivary Gland Neoplasms1CTD_human