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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for GNAS

check button Gene summary
Gene informationGene symbol

GNAS

Gene ID

2778

Gene nameGNAS complex locus
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

20q13.32

Type of geneprotein-coding
Descriptionprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha
Modification date20200329
UniProtAcc

A0A0A0MR13,

A0A0S2Z3H8,

A0A0S2Z3S5,

A0A590UJ22,

A0A590UJ46,

A0A590UJ47,

A0A590UJ58,

A0A590UJA5,

A0A590UJB0,

A0A590UJB7,

A0A590UJC9,

A0A590UJF0,

A0A590UJG5,

A0A590UJI6,

A0A590UJJ0,

A0A590UJQ2,

A0A590UJQ9,

A0A590UJR6,

A0A590UJS2,

A0A590UJX3,

A0A590UJX6,

A0A590UJY2,

A0A590UJY8,

A0A590UK00,

A0A590UK28,

A0A590UKA1,

A0A590UKA4,

A0A590UKA9,

A0A590UKB4,

A2A2R6,

A2A2S1,

B0AZR9,

H0UI78,

H0Y7E8,

H0Y7F4,

H0Y7Z6,

O95467,

P63092,

P84996,

Q5FWY2,

Q5JWD1,

Q5JWE9,

Q5JWF2,

S4R3E3,

S4R3V9,

X6R7U9,

Context

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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Gene structures and expression levels for GNAS

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000087460
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PCCUPENST00000487862.5GNAS-245:retained_intron:GNAS1.213045e+028.890634e-011.084871e-075.526782e-05
STGUPENST00000371095.7GNAS-211:protein_coding:GNAS1.257205e+029.973467e-012.697134e-055.122554e-03
PGUPENST00000371095.7GNAS-211:protein_coding:GNAS1.188436e+029.135666e-012.833531e-051.081701e-03
CBUPENST00000265620.11GNAS-201:protein_coding:GNAS2.739276e+031.022666e+008.095666e-164.933452e-13
CBUPENST00000485673.5GNAS-244:protein_coding:GNAS3.334045e+018.036071e-013.657115e-112.767654e-09
CBUPENST00000478585.5GNAS-235:protein_coding:GNAS4.114573e+001.158592e+002.014162e-073.841661e-06
CBUPENST00000476935.5GNAS-233:protein_coding:GNAS3.214437e+011.135579e+004.693341e-053.898658e-04
CBUPENST00000450130.5GNAS-218:protein_coding:GNAS1.344592e+001.617708e+007.264720e-043.949237e-03
TCUPENST00000478585.5GNAS-235:protein_coding:GNAS3.623833e+008.361064e-012.706532e-043.551462e-03

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GNAS

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_121442chr2058889227:58889353:58889526:58889549:58895612:5889568458889526:58889549
exon_skip_128380chr2058909521:58909579:58909684:58909804:58909951:5890997058909684:58909804
exon_skip_132782chr2058895664:58895684:58898941:58898985:58903528:5890354358898941:58898985
exon_skip_144003chr2058895664:58895684:58898941:58898985:58903531:5890355658898941:58898985
exon_skip_146696chr2058895612:58895684:58898941:58898985:58899949:5889996858898941:58898985
exon_skip_147597chr2058895621:58895684:58898941:58898985:58899949:5890003058898941:58898985
exon_skip_150697chr2058895612:58895684:58898941:58898985:58903531:5890353858898941:58898985
exon_skip_150988chr2058898963:58898985:58899949:58900030:58903531:5890358558899949:58900030
exon_skip_169502chr2058895612:58895684:58903528:58903585:58903672:5890377458903528:58903585
exon_skip_172613chr2058909767:58909804:58909951:58910081:58910334:5891036558909951:58910081
exon_skip_175133chr2058853263:58855333:58891582:58891865:58895612:5889568458891582:58891865
exon_skip_177647chr2058903537:58903585:58903672:58903791:58905383:5890542058903672:58903791
exon_skip_183238chr2058898941:58898985:58899949:58900030:58903531:5890353858899949:58900030
exon_skip_191chr2058895612:58895684:58898941:58898985:58899949:5890041058898941:58898985
exon_skip_212114chr2058909951:58910081:58910334:58910401:58910683:5891078158910334:58910401
exon_skip_229202chr2058909521:58909579:58909684:58909804:58909951:5890997458909684:58909804
exon_skip_244323chr2058891760:58891865:58895612:58895684:58903531:5890355658895612:58895684
exon_skip_246461chr2058895612:58895684:58898941:58898985:58899949:5890003058898941:58898985
exon_skip_285264chr2058898963:58898985:58899949:58900030:58903531:5890355658899949:58900030
exon_skip_291039chr2058898941:58898985:58899949:58900030:58903531:5890355658899949:58900030
exon_skip_29970chr2058898941:58898985:58899949:58900030:58903531:5890358558899949:58900030
exon_skip_46440chr2058903571:58903585:58903672:58903791:58905383:5890542058903672:58903791
exon_skip_65827chr2058895621:58895684:58898941:58898985:58903528:5890354358898941:58898985
exon_skip_72207chr2058895612:58895684:58898941:58898985:58903528:5890354358898941:58898985
exon_skip_7247chr2058898942:58898985:58899949:58900030:58903531:5890355658899949:58900030
exon_skip_88707chr2058895612:58895684:58898941:58898985:58903531:5890355658898941:58898985
exon_skip_90110chr2058895612:58895684:58903531:58903585:58903672:5890377458903531:58903585

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_72207ROSMAP_PCC5.954615e-017.042353e-01-1.087738e-016.779931e-05
exon_skip_72207MSBB_STG6.097101e-017.241667e-01-1.144565e-012.935508e-02
exon_skip_72207MSBB_PG4.846528e-016.603509e-01-1.756981e-018.313138e-07
exon_skip_72207Mayo_CB2.317073e-013.416883e-01-1.099810e-011.964847e-06
exon_skip_88707Mayo_CB7.043902e-018.253247e-01-1.209344e-015.518819e-07


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

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000031394958898941588989853UTR-3UTR
ENST0000037107558898941588989853UTR-3UTR
ENST0000037109858898941588989853UTR-3UTR
ENST0000031394958903672589037913UTR-3UTR
ENST0000037107558903672589037913UTR-3UTR
ENST0000031394958909684589098043UTR-3UTR
ENST0000037107558909684589098043UTR-3UTR
ENST0000031394958910334589104013UTR-3UTR
ENST0000037107558910334589104013UTR-3UTR
ENST000003710855890968458909804Frame-shift
ENST000003711005890968458909804Frame-shift
ENST000003710855891033458910401Frame-shift
ENST000003711005891033458910401Frame-shift
ENST000003710855889894158898985In-frame
ENST000003711005889894158898985In-frame
ENST000003710855890367258903791In-frame
ENST000003711005890367258903791In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000031394958898941588989853UTR-3UTR
ENST0000037107558898941588989853UTR-3UTR
ENST0000037109858898941588989853UTR-3UTR
ENST000003710855889894158898985In-frame
ENST000003711005889894158898985In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000031394958898941588989853UTR-3UTR
ENST0000037107558898941588989853UTR-3UTR
ENST0000037109858898941588989853UTR-3UTR
ENST0000031394958903672589037913UTR-3UTR
ENST0000037107558903672589037913UTR-3UTR
ENST0000031394958909684589098043UTR-3UTR
ENST0000037107558909684589098043UTR-3UTR
ENST0000031394958909951589100813UTR-3UTR
ENST0000037107558909951589100813UTR-3UTR
ENST0000031394958910334589104013UTR-3UTR
ENST0000037107558910334589104013UTR-3UTR
ENST000003710855890968458909804Frame-shift
ENST000003711005890968458909804Frame-shift
ENST000003710855890995158910081Frame-shift
ENST000003711005890995158910081Frame-shift
ENST000003710855891033458910401Frame-shift
ENST000003711005891033458910401Frame-shift
ENST000003710855889894158898985In-frame
ENST000003711005889894158898985In-frame
ENST000003710855890367258903791In-frame
ENST000003711005890367258903791In-frame

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

p-ENSG00000087460_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000037110040461037588989415889898526952738714728
ENST0000037110040461037589036725890379127952913747787

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000037110040461037588989415889898526952738714728

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000037110040461037588989415889898526952738714728
ENST0000037110040461037589036725890379127952913747787

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q5JWF2714728691752Alternative sequenceID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF2714728714729Alternative sequenceID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JWF271472811037ChainID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Q5JWF2747787691752Alternative sequenceID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF27477877531037Alternative sequenceID=VSP_052175;Note=In isoform XLas-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF274778711037ChainID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Q5JWF2747787730756Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255

check button Lost protein functional features of individual exon skipping events in MSBB.
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
Q5JWF2714728691752Alternative sequenceID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF2714728714729Alternative sequenceID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JWF271472811037ChainID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q5JWF2714728691752Alternative sequenceID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF2714728714729Alternative sequenceID=VSP_052174;Note=In isoform XLas-2. EGGEEDPQAARSNSDG->DS;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JWF271472811037ChainID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Q5JWF2747787691752Alternative sequenceID=VSP_052173;Note=In isoform XLas-3. AGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAA->RKVVPSDTEGRFRLDRPAPATVSWTGRGFSVSSLLIRSPNPPAFTVEKPDTQVLENLVKAPL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF27477877531037Alternative sequenceID=VSP_052175;Note=In isoform XLas-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9707596;Dbxref=PMID:9707596
Q5JWF274778711037ChainID=PRO_0000253984;Note=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Q5JWF2747787730756Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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3'-UTR located exon skipping events that lost miRNA binding sites in GNAS

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000003710755891033458910401hsa-miR-5585-5pchr20:58910377-589103848mer-1achr20:58910374-58910395142.00-18.86
MayoENST000003710985889894158898985hsa-miR-7156-3pchr20:58898962-588989698mer-1achr20:58898954-58898975157.00-25.76
MayoENST000003710755890367258903791hsa-miR-6715b-5pchr20:58903768-589037758mer-1achr20:58903767-58903791150.00-27.70
MayoENST000003710755890968458909804hsa-miR-4709-3pchr20:58909779-589097868mer-1achr20:58909760-58909786155.00-26.47
MayoENST000003710755890968458909804hsa-miR-494-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
MayoENST000003710755890968458909804hsa-miR-323b-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
MayoENST000003710755890968458909804hsa-miR-410-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
MayoENST000003710755890367258903791hsa-miR-4539chr20:58903733-589037408mer-1achr20:58903716-58903740154.00-23.22
MayoENST000003710985889894158898985hsa-miR-6772-3pchr20:58898969-588989768mer-1achr20:58898960-58898980158.00-17.51
MayoENST000003710755891033458910401hsa-miR-1538chr20:58910368-589103758mer-1achr20:58910352-58910375152.00-29.59
MayoENST000003710755890367258903791hsa-miR-6777-3pchr20:58903738-589037458mer-1achr20:58903734-58903755162.00-24.95
MayoENST000003710755891033458910401hsa-miR-4745-3pchr20:58910368-589103758mer-1achr20:58910352-58910375152.00-29.59
MayoENST000003710755890995158910081hsa-miR-4433a-3pchr20:58910069-589100768mer-1achr20:58910056-58910078159.00-23.84
MayoENST000003710755890367258903791hsa-miR-4435chr20:58903714-589037218mer-1achr20:58903703-58903721150.00-22.16
MayoENST000003710755890367258903791hsa-miR-4269chr20:58903768-589037758mer-1achr20:58903767-58903791150.00-27.70
MayoENST000003710755890995158910081hsa-miR-3928-3pchr20:58909978-589099858mer-1achr20:58909964-58909986147.00-24.73
MayoENST000003710755890995158910081hsa-miR-7977chr20:58910018-589100258mer-1achr20:58910010-58910025144.00-14.36
MayoENST000003710985889894158898985hsa-miR-4448chr20:58898968-588989758mer-1achr20:58898954-58898975157.00-25.76
MayoENST000003710755890367258903791hsa-miR-12113chr20:58903733-589037408mer-1achr20:58903716-58903740154.00-23.22
MayoENST000003710755890968458909804hsa-miR-4635chr20:58909781-589097888mer-1achr20:58909775-58909799157.00-15.95
MayoENST000003710755890995158910081hsa-miR-4280chr20:58910062-589100698mer-1achr20:58910056-58910078159.00-23.84
MayoENST000003710755890968458909804hsa-miR-591chr20:58909727-589097348mer-1achr20:58909725-58909750147.00-21.83
MayoENST000003710755890367258903791hsa-miR-597-3pchr20:58903726-589037338mer-1achr20:58903716-58903740154.00-23.22
MayoENST000003710985889894158898985hsa-miR-6841-3pchr20:58898965-588989728mer-1achr20:58898954-58898975157.00-25.76
MayoENST000003710755890995158910081hsa-miR-875-3pchr20:58910045-589100528mer-1achr20:58910032-58910053140.00-13.04
MayoENST000003710755890995158910081hsa-miR-1299chr20:58910046-589100538mer-1achr20:58910032-58910053140.00-13.04
MayoENST000003710755890995158910081hsa-miR-3915chr20:58909979-589099868mer-1achr20:58909964-58909986147.00-24.73
MSBBENST000003710985889894158898985hsa-miR-7156-3pchr20:58898962-588989698mer-1achr20:58898954-58898975157.00-25.76
MSBBENST000003710985889894158898985hsa-miR-6772-3pchr20:58898969-588989768mer-1achr20:58898960-58898980158.00-17.51
MSBBENST000003710985889894158898985hsa-miR-4448chr20:58898968-588989758mer-1achr20:58898954-58898975157.00-25.76
MSBBENST000003710985889894158898985hsa-miR-6841-3pchr20:58898965-588989728mer-1achr20:58898954-58898975157.00-25.76
ROSMAPENST000003710755891033458910401hsa-miR-5585-5pchr20:58910377-589103848mer-1achr20:58910374-58910395142.00-18.86
ROSMAPENST000003710985889894158898985hsa-miR-7156-3pchr20:58898962-588989698mer-1achr20:58898954-58898975157.00-25.76
ROSMAPENST000003710755890367258903791hsa-miR-6715b-5pchr20:58903768-589037758mer-1achr20:58903767-58903791150.00-27.70
ROSMAPENST000003710755890968458909804hsa-miR-4709-3pchr20:58909779-589097868mer-1achr20:58909760-58909786155.00-26.47
ROSMAPENST000003710755890968458909804hsa-miR-494-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
ROSMAPENST000003710755890968458909804hsa-miR-323b-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
ROSMAPENST000003710755890968458909804hsa-miR-410-5pchr20:58909743-589097508mer-1achr20:58909725-58909750147.00-21.83
ROSMAPENST000003710755890367258903791hsa-miR-4539chr20:58903733-589037408mer-1achr20:58903716-58903740154.00-23.22
ROSMAPENST000003710985889894158898985hsa-miR-6772-3pchr20:58898969-588989768mer-1achr20:58898960-58898980158.00-17.51
ROSMAPENST000003710755891033458910401hsa-miR-1538chr20:58910368-589103758mer-1achr20:58910352-58910375152.00-29.59
ROSMAPENST000003710755890367258903791hsa-miR-6777-3pchr20:58903738-589037458mer-1achr20:58903734-58903755162.00-24.95
ROSMAPENST000003710755891033458910401hsa-miR-4745-3pchr20:58910368-589103758mer-1achr20:58910352-58910375152.00-29.59
ROSMAPENST000003710755890367258903791hsa-miR-4435chr20:58903714-589037218mer-1achr20:58903703-58903721150.00-22.16
ROSMAPENST000003710755890367258903791hsa-miR-4269chr20:58903768-589037758mer-1achr20:58903767-58903791150.00-27.70
ROSMAPENST000003710985889894158898985hsa-miR-4448chr20:58898968-588989758mer-1achr20:58898954-58898975157.00-25.76
ROSMAPENST000003710755890367258903791hsa-miR-12113chr20:58903733-589037408mer-1achr20:58903716-58903740154.00-23.22
ROSMAPENST000003710755890968458909804hsa-miR-4635chr20:58909781-589097888mer-1achr20:58909775-58909799157.00-15.95
ROSMAPENST000003710755890968458909804hsa-miR-591chr20:58909727-589097348mer-1achr20:58909725-58909750147.00-21.83
ROSMAPENST000003710755890367258903791hsa-miR-597-3pchr20:58903726-589037338mer-1achr20:58903716-58903740154.00-23.22
ROSMAPENST000003710985889894158898985hsa-miR-6841-3pchr20:58898965-588989728mer-1achr20:58898954-58898975157.00-25.76

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SNVs in the skipped exons for GNAS

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for GNAS

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageROSMAPPCCexon_skip_72207-3.237294e-011.230000e-06chr20+588956125889568458898941588989855890352858903543
ADstageROSMAPPCCexon_skip_88707-3.186188e-011.850000e-06chr20+588956125889568458898941588989855890353158903556
CDRMSBBSTGexon_skip_72207-3.623693e-013.577710e-04chr20+588956125889568458898941588989855890352858903543

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

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for GNAS

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBHNRNPDLexon_skip_722074.489593e-012.928841e-09
CBHNRNPDLexon_skip_887074.085536e-018.982714e-08
CBRBM4Bexon_skip_88707-4.420878e-015.413211e-09
DLPFCSRSF2exon_skip_1440036.801174e-011.757598e-34
DLPFCRBM5exon_skip_1440035.707512e-011.723148e-22
DLPFCILF2exon_skip_1440035.960653e-017.309601e-25
DLPFCHNRNPDLexon_skip_1440036.703944e-013.307878e-33
DLPFCEWSR1exon_skip_1440036.714906e-012.389270e-33
DLPFCSRSF9exon_skip_1440035.957133e-017.912900e-25
DLPFCESRP1exon_skip_1440035.846739e-019.060014e-24
DLPFCSRSF2exon_skip_1327826.821855e-019.277319e-35
DLPFCRBM5exon_skip_1327825.401295e-017.017650e-20
DLPFCILF2exon_skip_1327825.901336e-012.745047e-24
DLPFCHNRNPDLexon_skip_1327826.795371e-012.100728e-34
DLPFCEWSR1exon_skip_1327826.389769e-012.121312e-29
DLPFCSRSF9exon_skip_1327825.777128e-014.020924e-23
DLPFCESRP1exon_skip_1327825.721655e-011.285706e-22
FLSRSF2exon_skip_722075.743267e-019.047695e-19
FLILF2exon_skip_722074.867795e-013.556957e-13
FLSRSF9exon_skip_722075.106397e-011.522351e-14
FLESRP1exon_skip_722074.487832e-013.333104e-11
HCCZNF326exon_skip_72207-4.784379e-015.050188e-17
HCCRBM5exon_skip_72207-4.261339e-011.803709e-13
HCCHNRNPFexon_skip_72207-5.866593e-011.227380e-26
HCCRBM4Bexon_skip_72207-4.746428e-019.595183e-17
HCCZNF326exon_skip_88707-4.888444e-018.336607e-18
HCCRBM5exon_skip_88707-4.475955e-017.440249e-15
HCCHNRNPFexon_skip_88707-5.946128e-011.714503e-27
HCCRBM4Bexon_skip_88707-5.064450e-013.432942e-19
IFGHNRNPFexon_skip_72207-4.209525e-012.569922e-02
PCCZNF326exon_skip_72207-4.917824e-011.711101e-14
PCCHNRNPFexon_skip_72207-6.048547e-017.685289e-23
PCCZNF326exon_skip_88707-4.538547e-012.539019e-12
PCCHNRNPFexon_skip_88707-5.541200e-011.056842e-18
PGILF2exon_skip_722074.241439e-013.507140e-10
STGSRSF2exon_skip_887074.768397e-011.351299e-06
STGILF2exon_skip_887075.086173e-011.937706e-07
STGHNRNPDLexon_skip_887075.069812e-012.151926e-07
STGSRSF9exon_skip_887074.025769e-016.322148e-05
TCSRSF2exon_skip_658275.311785e-014.973524e-13
TCILF2exon_skip_658275.164248e-012.749485e-12
TCHNRNPDLexon_skip_658274.510850e-012.149089e-09
TCESRP1exon_skip_658276.428028e-015.024123e-20
TCSRSF2exon_skip_1506975.270603e-018.082887e-13
TCILF2exon_skip_1506974.887092e-015.512657e-11
TCHNRNPDLexon_skip_1506974.482368e-012.786171e-09
TCESRP1exon_skip_1506976.265805e-017.855481e-19
TCRBMS2exon_skip_11390-4.760828e-011.981156e-10
TCRBFOX2exon_skip_113905.618243e-011.080891e-14
TCMSI1exon_skip_11390-4.532725e-011.757722e-09
TCSAMD4Aexon_skip_11390-5.142876e-013.498540e-12
TCKHDRBS3exon_skip_113904.975418e-012.182898e-11
TCHNRNPDLexon_skip_113904.655196e-015.554175e-10
TCHNRNPDexon_skip_113904.999294e-011.691546e-11
TCNOVA1exon_skip_113906.997455e-017.519606e-25

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RelatedDrugs for GNAS

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

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RelatedDiseases for GNAS

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