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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 PLEKHG1

check button Gene summary
Gene informationGene symbol

PLEKHG1

Gene ID

57480

Gene namepleckstrin homology and RhoGEF domain containing G1
SynonymsARHGEF41
Cytomap

6q25.1

Type of geneprotein-coding
Descriptionpleckstrin homology domain-containing family G member 1pleckstrin homology domain containing, family G (with RhoGef domain) member 1
Modification date20180519
UniProtAcc

Q9ULL1

ContextPubMed: PLEKHG1 [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 PLEKHG1 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 PLEKHG1

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 PLEKHG1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4547966150921018:150921153:150959215:150959261:150971863:150971922150959215:150959261ENSG00000120278.10ENST00000367326.1
exon_skip_4548016151054719:151055228:151089773:151089874:151107525:151107595151089773:151089874ENSG00000120278.10ENST00000358517.2,ENST00000367328.1
exon_skip_4548046151089821:151089874:151107525:151107595:151116991:151117038151107525:151107595ENSG00000120278.10ENST00000358517.2,ENST00000475490.1,ENST00000367328.1
exon_skip_4548056151116991:151117038:151121854:151122005:151125745:151125877151121854:151122005ENSG00000120278.10ENST00000358517.2,ENST00000475490.1,ENST00000367328.1
exon_skip_4548066151140814:151140910:151142330:151142369:151144789:151144812151142330:151142369ENSG00000120278.10ENST00000358517.2,ENST00000475490.1,ENST00000367328.1
exon_skip_4548076151142330:151142369:151144789:151144812:151151717:151151863151144789:151144812ENSG00000120278.10ENST00000358517.2,ENST00000475490.1,ENST00000367328.1
exon_skip_4548096151144789:151144812:151151717:151153341:151160968:151161080151151717:151153341ENSG00000120278.10ENST00000358517.2,ENST00000367328.1

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

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Exon skipping events with PSIs in GTEx for PLEKHG1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4547966150921018:150921153:150959215:150959261:150971863:150971922150959215:150959261ENSG00000120278.10ENST00000367326.1
exon_skip_4548016151054719:151055228:151089773:151089874:151107525:151107595151089773:151089874ENSG00000120278.10ENST00000367328.1,ENST00000358517.2
exon_skip_4548046151089821:151089874:151107525:151107595:151116991:151117038151107525:151107595ENSG00000120278.10ENST00000367328.1,ENST00000358517.2,ENST00000475490.1
exon_skip_4548056151116991:151117038:151121854:151122005:151125745:151125877151121854:151122005ENSG00000120278.10ENST00000367328.1,ENST00000358517.2,ENST00000475490.1
exon_skip_4548066151140814:151140910:151142330:151142369:151144789:151144812151142330:151142369ENSG00000120278.10ENST00000367328.1,ENST00000358517.2,ENST00000475490.1
exon_skip_4548076151142330:151142369:151144789:151144812:151151717:151151863151144789:151144812ENSG00000120278.10ENST00000367328.1,ENST00000358517.2,ENST00000475490.1
exon_skip_4548096151144789:151144812:151151717:151153341:151160968:151161080151151717:151153341ENSG00000120278.10ENST00000367328.1,ENST00000358517.2

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 PLEKHG1

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
ENST00000358517151089773151089874Frame-shift
ENST00000358517151107525151107595Frame-shift
ENST00000358517151121854151122005Frame-shift
ENST00000358517151144789151144812Frame-shift
ENST00000358517151151717151153341Frame-shift
ENST00000358517151142330151142369In-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
ENST00000358517151089773151089874Frame-shift
ENST00000358517151107525151107595Frame-shift
ENST00000358517151121854151122005Frame-shift
ENST00000358517151144789151144812Frame-shift
ENST00000358517151151717151153341Frame-shift
ENST00000358517151142330151142369In-frame

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Infer the effects of exon skipping event on protein functional features for PLEKHG1

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
ENST000003585177153138515114233015114236916201658469482

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
ENST000003585177153138515114233015114236916201658469482

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
Q9ULL146948211385ChainID=PRO_0000080964;Note=Pleckstrin homology domain-containing family G member 1


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
Q9ULL146948211385ChainID=PRO_0000080964;Note=Pleckstrin homology domain-containing family G member 1


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SNVs in the skipped exons for PLEKHG1

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.
PLEKHG1_LUAD_exon_skip_454809_psi_boxplot.png
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PLEKHG1_STAD_exon_skip_454809_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LUADTCGA-86-8673-01exon_skip_454801
151089774151089874151089793151089793Frame_Shift_DelG-p.R144fs
LIHCTCGA-DD-A39Y-01exon_skip_454801
151089774151089874151089799151089799Frame_Shift_DelA-p.Q146fs
LIHCTCGA-DD-A3A0-01exon_skip_454801
151089774151089874151089803151089803Frame_Shift_DelA-p.T147fs
HNSCTCGA-BA-A6DA-01exon_skip_454801
151089774151089874151089835151089835Frame_Shift_DelC-p.A158fs
LIHCTCGA-DD-A1EG-01exon_skip_454801
151089774151089874151089838151089838Frame_Shift_DelT-p.L159fs
LIHCTCGA-G3-A3CJ-01exon_skip_454801
151089774151089874151089838151089838Frame_Shift_DelT-p.L159fs
LIHCTCGA-DD-A39Y-01exon_skip_454804
151107526151107595151107591151107591Frame_Shift_DelC-p.S193fs
UCECTCGA-B5-A0K4-01exon_skip_454805
151121855151122005151121930151121942Frame_Shift_DelGAAACACTCGCTG-p.K236fs
UCECTCGA-B5-A0K4-01exon_skip_454805
151121855151122005151121930151121942Frame_Shift_DelGAAACACTCGCTG-p.L294fs
LIHCTCGA-G3-A3CJ-01exon_skip_454806
151142331151142369151142343151142343Frame_Shift_DelG-p.R474fs
LIHCTCGA-DD-A39Y-01exon_skip_454806
151142331151142369151142355151142355Frame_Shift_DelT-p.V478fs
BRCATCGA-EW-A1PA-01exon_skip_454809
151151718151153341151151728151151731Frame_Shift_DelAGGA-p.E495fs
LIHCTCGA-DD-A39Y-01exon_skip_454809
151151718151153341151151943151151943Frame_Shift_DelT-p.F566fs
LIHCTCGA-G3-A3CJ-01exon_skip_454809
151151718151153341151151943151151943Frame_Shift_DelT-p.F566fs
LUADTCGA-44-2662-01exon_skip_454809
151151718151153341151151947151151951Frame_Shift_DelCCTCC-p.S567fs
LUADTCGA-44-2662-01exon_skip_454809
151151718151153341151151947151151951Frame_Shift_DelCCTCC-p.SS567fs
STADTCGA-BR-4184-01exon_skip_454809
151151718151153341151152385151152386Frame_Shift_DelTT-p.713_713del
LIHCTCGA-DD-A3A0-01exon_skip_454809
151151718151153341151152549151152549Frame_Shift_DelT-p.F768fs
KIRPTCGA-G7-6797-01exon_skip_454809
151151718151153341151152656151152656Frame_Shift_DelT-p.T803fs
KIRPTCGA-G7-6797-01exon_skip_454809
151151718151153341151152656151152656Frame_Shift_DelT-p.T862fs
STADTCGA-CG-4437-01exon_skip_454809
151151718151153341151152656151152698Frame_Shift_DelTCCCGATCATGGTTATCTGAGTTTGCTGTATGACTCTCCCAGT-p.803_817del
LIHCTCGA-DD-A39Y-01exon_skip_454809
151151718151153341151153068151153068Frame_Shift_DelC-p.P941fs
LIHCTCGA-G3-A3CJ-01exon_skip_454809
151151718151153341151153126151153126Frame_Shift_DelA-p.E960fs
STADTCGA-CG-5721-01exon_skip_454809
151151718151153341151153218151153218Frame_Shift_DelA-p.A1049fs
STADTCGA-CG-5721-01exon_skip_454809
151151718151153341151153218151153218Frame_Shift_DelA-p.A990fs
LUSCTCGA-46-3769-01exon_skip_454804
151107526151107595151107545151107545Nonsense_MutationGTp.E237*
STADTCGA-HU-A4GN-01exon_skip_454809
151151718151153341151153326151153326Nonsense_MutationGTp.G1027*
STADTCGA-HU-A4GN-01exon_skip_454809
151151718151153341151153326151153326Nonsense_MutationGTp.G1027X
LUSCTCGA-33-6737-01exon_skip_454805
151121855151122005151121854151121854Splice_SiteGAp.R269_splice
STADTCGA-CD-A4MJ-01exon_skip_454809
151151718151153341151153343151153343Splice_SiteTC.
STADTCGA-CD-A4MJ-01exon_skip_454809
151151718151153341151153343151153343Splice_SiteTCp.G1032_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
PLEKHG1_151144789_151144812_151151717_151153341_151160968_151161080_TCGA-CG-5721-01Sample: TCGA-CG-5721-01
Cancer type: STAD
ESID: exon_skip_454809
Skipped exon start: 151151718
Skipped exon end: 151153341
Mutation start: 151153218
Mutation end: 151153218
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A990fs
PLEKHG1_151144789_151144812_151151717_151153341_151160968_151161080_TCGA-CG-5721-01Sample: TCGA-CG-5721-01
Cancer type: STAD
ESID: exon_skip_454809
Skipped exon start: 151151718
Skipped exon end: 151153341
Mutation start: 151153218
Mutation end: 151153218
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.A1049fs
exon_skip_107493_STAD_TCGA-CG-5721-01.png
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exon_skip_107867_STAD_TCGA-CG-5721-01.png
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exon_skip_123973_STAD_TCGA-CG-5721-01.png
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exon_skip_124728_STAD_TCGA-CG-5721-01.png
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exon_skip_20583_STAD_TCGA-CG-5721-01.png
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exon_skip_284550_STAD_TCGA-CG-5721-01.png
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exon_skip_287086_STAD_TCGA-CG-5721-01.png
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exon_skip_287092_STAD_TCGA-CG-5721-01.png
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exon_skip_328008_STAD_TCGA-CG-5721-01.png
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exon_skip_347989_STAD_TCGA-CG-5721-01.png
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exon_skip_360357_STAD_TCGA-CG-5721-01.png
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exon_skip_360359_STAD_TCGA-CG-5721-01.png
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exon_skip_361242_STAD_TCGA-CG-5721-01.png
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exon_skip_363554_STAD_TCGA-CG-5721-01.png
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exon_skip_370065_STAD_TCGA-CG-5721-01.png
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exon_skip_377240_STAD_TCGA-CG-5721-01.png
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exon_skip_378735_STAD_TCGA-CG-5721-01.png
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exon_skip_41850_STAD_TCGA-CG-5721-01.png
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exon_skip_425098_STAD_TCGA-CG-5721-01.png
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exon_skip_443908_STAD_TCGA-CG-5721-01.png
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exon_skip_449553_STAD_TCGA-CG-5721-01.png
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exon_skip_452918_STAD_TCGA-CG-5721-01.png
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exon_skip_454809_STAD_TCGA-CG-5721-01.png
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exon_skip_462689_STAD_TCGA-CG-5721-01.png
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exon_skip_482821_STAD_TCGA-CG-5721-01.png
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exon_skip_482822_STAD_TCGA-CG-5721-01.png
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exon_skip_487878_STAD_TCGA-CG-5721-01.png
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exon_skip_502793_STAD_TCGA-CG-5721-01.png
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exon_skip_508189_STAD_TCGA-CG-5721-01.png
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exon_skip_516607_STAD_TCGA-CG-5721-01.png
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exon_skip_54935_STAD_TCGA-CG-5721-01.png
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exon_skip_96977_STAD_TCGA-CG-5721-01.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_ENDOMETRIUM151151718151153341151152385151152386Frame_Shift_DelTT-p.L713fs
RERFLCFM_LUNG151151718151153341151152281151152282In_Frame_Ins-GCTp.679_679A>AA
CW2_LARGE_INTESTINE151089774151089874151089787151089787Missense_MutationGAp.C142Y
NCIH748_LUNG151089774151089874151089811151089811Missense_MutationCGp.P150R
NCIH2023_LUNG151107526151107595151107560151107560Missense_MutationGTp.D183Y
HEC108_ENDOMETRIUM151142331151142369151142350151142350Missense_MutationTAp.H476Q
NCIH2722_PLEURA151144790151144812151144795151144795Missense_MutationGAp.A485T
ASPC1_PANCREAS151151718151153341151151770151151770Missense_MutationCTp.A508V
HEC251_ENDOMETRIUM151151718151153341151151859151151859Missense_MutationACp.I538L
JMSU1_URINARY_TRACT151151718151153341151151955151151955Missense_MutationGTp.D570Y
HCT15_LARGE_INTESTINE151151718151153341151151992151151992Missense_MutationCTp.S582F
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE151151718151153341151151998151151998Missense_MutationGAp.R584H
JMSU1_URINARY_TRACT151151718151153341151152087151152087Missense_MutationGAp.E614K
NCIH513_PLEURA151151718151153341151152127151152127Missense_MutationGAp.R627K
DETROIT562_UPPER_AERODIGESTIVE_TRACT151151718151153341151152186151152186Missense_MutationGAp.G647R
JMSU1_URINARY_TRACT151151718151153341151152231151152231Missense_MutationGCp.D662H
NCIH513_PLEURA151151718151153341151152246151152246Missense_MutationGCp.E667Q
HCC1569_BREAST151151718151153341151152288151152288Missense_MutationTAp.S681T
SW684_SOFT_TISSUE151151718151153341151152316151152316Missense_MutationCTp.S690F
BEN_LUNG151151718151153341151152523151152523Missense_MutationGTp.S759I
SNU398_LIVER151151718151153341151152567151152567Missense_MutationGAp.D774N
SNU1040_LARGE_INTESTINE151151718151153341151152571151152571Missense_MutationTCp.F775S
JHH5_LIVER151151718151153341151152756151152756Missense_MutationGAp.E837K
HEC251_ENDOMETRIUM151151718151153341151152768151152768Missense_MutationGTp.D841Y
NCIH2170_LUNG151151718151153341151152892151152892Missense_MutationGAp.R882Q
JHU011_UPPER_AERODIGESTIVE_TRACT151151718151153341151152904151152904Missense_MutationGAp.R886H
201T_LUNG151151718151153341151152918151152918Missense_MutationCAp.L891M
MEWO_SKIN151151718151153341151153027151153027Missense_MutationCTp.S927F
CCK81_LARGE_INTESTINE151151718151153341151153038151153038Missense_MutationCAp.L931I
TTC466_BONE151151718151153341151153067151153067Missense_MutationGTp.M940I
HEYA8_OVARY151151718151153341151153111151153111Missense_MutationCAp.S955Y
MDAMB453_BREAST151151718151153341151153181151153181Missense_MutationGAp.M978I
CAL27_UPPER_AERODIGESTIVE_TRACT151151718151153341151153327151153327Missense_MutationGCp.G1027A
SNU1040_LARGE_INTESTINE151151718151153341151153336151153336Missense_MutationCTp.A1030V
HEC1A_ENDOMETRIUM151151718151153341151151817151151817Nonsense_MutationCTp.R524*
NCIH513_PLEURA151151718151153341151152412151152412Nonsense_MutationCGp.S722*
MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE151151718151153341151152764151152764Nonsense_MutationGAp.W839*
SIHA_CERVIX151151718151153341151153191151153191Nonsense_MutationCTp.Q982*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHG1

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 PLEKHG1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHG1


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RelatedDrugs for PLEKHG1

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 PLEKHG1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
PLEKHG1C0040336Tobacco Use Disorder1CTD_human