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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 STAT1

check button Gene summary
Gene informationGene symbol

STAT1

Gene ID

6772

Gene namesignal transducer and activator of transcription 1
SynonymsCANDF7|IMD31A|IMD31B|IMD31C|ISGF-3|STAT91
Cytomap

2q32.2

Type of geneprotein-coding
Descriptionsignal transducer and activator of transcription 1-alpha/betasignal transducer and activator of transcription 1, 91kDsignal transducer and activator of transcription 1, 91kDatranscription factor ISGF-3 components p91/p84
Modification date20200329
UniProtAcc

A0A510GDC6,

D2KFR9,

E7ENM1,

E7EPD2,

E9PH66,

H7BZ88,

H7BZB5,

J3KPM9,

P42224,

Q67C41,

Q9UK44,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
STAT1

GO:0007259

JAK-STAT cascade

22002246

STAT1

GO:0010742

macrophage derived foam cell differentiation

26504087

STAT1

GO:0032727

positive regulation of interferon-alpha production

28753426

STAT1

GO:0033209

tumor necrosis factor-mediated signaling pathway

10848577

STAT1

GO:0045893

positive regulation of transcription, DNA-templated

10973496

STAT1

GO:0051607

defense response to virus

28753426

STAT1

GO:0060333

interferon-gamma-mediated signaling pathway

21268089

STAT1

GO:0060337

type I interferon signaling pathway

23386060

STAT1

GO:0071346

cellular response to interferon-gamma

23386060


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Gene structures and expression levels for STAT1

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

ENSG00000115415
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
CBDOWNENST00000540176.5STAT1-212:protein_coding:STAT11.227903e+02-1.993755e+003.012327e-052.674904e-04
CBUPENST00000409465.5STAT1-204:protein_coding:STAT13.034031e+001.034602e+001.443477e-024.676598e-02
TCUPENST00000464072.1STAT1-211:retained_intron:STAT11.231347e+009.867515e-014.377046e-033.029683e-02
TCDOWNENST00000540176.5STAT1-212:protein_coding:STAT11.005093e+02-1.181574e+006.140300e-033.903661e-02

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 STAT1

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_117798chr2190999626:190999704:191001074:191001163:191007563:191007661191001074:191001163
exon_skip_137033chr2191009876:191010004:191013525:191013678:191014018:191014168191013525:191013678
exon_skip_157901chr2190974830:190974932:190975812:190975887:190976840:190976922190975812:190975887
exon_skip_183688chr2190974830:190974932:190975310:190975388:190975812:190975887190975310:190975388
exon_skip_206369chr2191009876:191010004:191010367:191010449:191013525:191013674191010367:191010449
exon_skip_233201chr2190986854:190986947:190987039:190987068:190989615:190989674190987039:190987068
exon_skip_252803chr2190997856:190998007:190998217:190998308:190999626:190999697190998217:190998308
exon_skip_291655chr2190997856:190998007:190998217:190998308:190999626:190999704190998217:190998308
exon_skip_50712chr2191009981:191010004:191013525:191013678:191014018:191014211191013525:191013678
exon_skip_66671chr2190987039:190987068:190989615:190989674:190991228:190991320190989615:190989674
exon_skip_87950chr2191009876:191010004:191010367:191010449:191013525:191013678191010367:191010449
exon_skip_92484chr2191009981:191010004:191010367:191010449:191013525:191013678191010367:191010449

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for STAT1

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
ENST000003610991910135251910136783UTR-3UTR
ENST00000361099190975812190975887Frame-shift
ENST00000409465190975812190975887Frame-shift
ENST00000361099190998217190998308Frame-shift
ENST00000409465190998217190998308Frame-shift
ENST00000361099190989615190989674In-frame
ENST00000409465190989615190989674In-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
ENST000003610991910135251910136783UTR-3UTR
ENST00000361099190998217190998308Frame-shift
ENST00000409465190998217190998308Frame-shift
ENST00000361099190989615190989674In-frame
ENST00000409465190989615190989674In-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
ENST000003610991910135251910136783UTR-3UTR
ENST00000361099190975812190975887Frame-shift
ENST00000409465190975812190975887Frame-shift
ENST00000361099190998217190998308Frame-shift
ENST00000409465190998217190998308Frame-shift
ENST00000361099190987039190987068In-frame
ENST00000409465190987039190987068In-frame
ENST00000361099190989615190989674In-frame
ENST00000409465190989615190989674In-frame
ENST00000361099191001074191001163In-frame
ENST00000409465191001074191001163In-frame

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Infer the effects of exon skipping event on protein functional features for STAT1

p-ENSG00000115415_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
ENST00000361099432775019098961519098967414261484346365
ENST00000409465311475019098961519098967414701528346365

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
ENST00000361099432775019098961519098967414261484346365
ENST00000409465311475019098961519098967414701528346365

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
ENST000003610994327750191001074191001163761849124153
ENST000004094653114750191001074191001163805893124153
ENST00000361099432775019098961519098967414261484346365
ENST00000409465311475019098961519098967414701528346365
ENST00000361099432775019098703919098706814861514366375
ENST00000409465311475019098703919098706815301558366375

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
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5

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
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5

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
P422241241532750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P422241241532750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P42224124153136317Coiled coilOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630226;Dbxref=PMID:9630226
P42224124153136317Coiled coilOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9630226;Dbxref=PMID:9630226
P42224124153121125HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1YVL
P42224124153121125HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1YVL
P42224124153137179HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224124153137179HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365339347Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365359365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P422243463652750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365352354HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224346365355357TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224366375374376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224366375374376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P422243663752750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P422243663752750ChainID=PRO_0000182410;Note=Signal transducer and activator of transcription 1-alpha/beta
P42224366375370373HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224366375370373HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1BF5
P42224366375366366Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28753426;Dbxref=PMID:28753426
P42224366375366366Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28753426;Dbxref=PMID:28753426
P42224366375366366MutagenesisNote=No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28753426;Dbxref=PMID:28753426
P42224366375366366MutagenesisNote=No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28753426;Dbxref=PMID:28753426


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3'-UTR located exon skipping events that lost miRNA binding sites in STAT1

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
MayoENST00000361099191013525191013678hsa-miR-410-3pchr2:191013610-1910136178mer-1achr2:191013597-191013617155.00-10.94
MayoENST00000361099191013525191013678hsa-miR-8078chr2:191013637-1910136448mer-1achr2:191013624-191013647166.00-21.46
MayoENST00000361099191013525191013678hsa-miR-4999-5pchr2:191013660-1910136678mer-1achr2:191013649-191013673154.00-17.51
MayoENST00000361099191013525191013678hsa-miR-4448chr2:191013566-1910135738mer-1achr2:191013550-191013574148.00-21.12
MayoENST00000361099191013525191013678hsa-miR-579-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51
MayoENST00000361099191013525191013678hsa-miR-3150b-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
MayoENST00000361099191013525191013678hsa-miR-3150a-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
MayoENST00000361099191013525191013678hsa-miR-664b-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51
MSBBENST00000361099191013525191013678hsa-miR-410-3pchr2:191013610-1910136178mer-1achr2:191013597-191013617155.00-10.94
MSBBENST00000361099191013525191013678hsa-miR-8078chr2:191013637-1910136448mer-1achr2:191013624-191013647166.00-21.46
MSBBENST00000361099191013525191013678hsa-miR-4999-5pchr2:191013660-1910136678mer-1achr2:191013649-191013673154.00-17.51
MSBBENST00000361099191013525191013678hsa-miR-4448chr2:191013566-1910135738mer-1achr2:191013550-191013574148.00-21.12
MSBBENST00000361099191013525191013678hsa-miR-579-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51
MSBBENST00000361099191013525191013678hsa-miR-3150b-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
MSBBENST00000361099191013525191013678hsa-miR-3150a-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
MSBBENST00000361099191013525191013678hsa-miR-664b-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51
ROSMAPENST00000361099191013525191013678hsa-miR-410-3pchr2:191013610-1910136178mer-1achr2:191013597-191013617155.00-10.94
ROSMAPENST00000361099191013525191013678hsa-miR-8078chr2:191013637-1910136448mer-1achr2:191013624-191013647166.00-21.46
ROSMAPENST00000361099191013525191013678hsa-miR-4999-5pchr2:191013660-1910136678mer-1achr2:191013649-191013673154.00-17.51
ROSMAPENST00000361099191013525191013678hsa-miR-4448chr2:191013566-1910135738mer-1achr2:191013550-191013574148.00-21.12
ROSMAPENST00000361099191013525191013678hsa-miR-579-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51
ROSMAPENST00000361099191013525191013678hsa-miR-3150b-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
ROSMAPENST00000361099191013525191013678hsa-miR-3150a-5pchr2:191013606-1910136138mer-1achr2:191013592-191013613164.00-21.01
ROSMAPENST00000361099191013525191013678hsa-miR-664b-3pchr2:191013666-1910136738mer-1achr2:191013649-191013673154.00-17.51

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SNVs in the skipped exons for STAT1

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 STAT1

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAT1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_66671rs16833157chr2:1909976721.055572e-121.575303e-09
CBexon_skip_66671rs11885069chr2:1910058981.055572e-121.575303e-09
CBexon_skip_66671rs2066802chr2:1910099411.667646e-091.319965e-06
CBexon_skip_66671rs11693463chr2:1910051853.437089e-071.441059e-04

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Correlation with RNA binding proteins (RBPs) for STAT1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
IFGRBMS2exon_skip_137033-4.802777e-019.689894e-03
STGDAZAP1exon_skip_1370334.106242e-012.293197e-04
STGRBMS3exon_skip_1370334.064437e-012.692933e-04
STGTRNAU1APexon_skip_1370334.179101e-011.724322e-04

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RelatedDrugs for STAT1

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 STAT1

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