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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 STAG1

check button Gene summary
Gene informationGene symbol

STAG1

Gene ID

10274

Gene namestromal antigen 1
SynonymsMRD47|SA1|SCC3A
Cytomap

3q22.3

Type of geneprotein-coding
Descriptioncohesin subunit SA-1SCC3 homolog 1nuclear protein stromal antigen 1
Modification date20200327
UniProtAcc

C9JJQ0,

F8WCB3,

F8WF82,

H7C595,

Q68DW7,

Q8WVM7,

Q969W9,

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 STAG1

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

ENSG00000118007
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 STAG1

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_115934chr3136340491:136340605:136343832:136344006:136349158:136349363136343832:136344006
exon_skip_121630chr3136359148:136359296:136363366:136363467:136366943:136367082136363366:136363467
exon_skip_123914chr3136366943:136367082:136369108:136369282:136377660:136377752136369108:136369282
exon_skip_125718chr3136357720:136357848:136359148:136359296:136363366:136363467136359148:136359296
exon_skip_148919chr3136568765:136568861:136586802:136586926:136604309:136604473136586802:136586926
exon_skip_154731chr3136521213:136521417:136542119:136542195:136568765:136568861136542119:136542195
exon_skip_15625chr3136417885:136417972:136421093:136421163:136422410:136422613136421093:136421163
exon_skip_160631chr3136341441:136341551:136343832:136344006:136349158:136349363136343832:136344006
exon_skip_186439chr3136377660:136377752:136398749:136398829:136417885:136417972136398749:136398829
exon_skip_193482chr3136340491:136340605:136341441:136341551:136343832:136344006136341441:136341551
exon_skip_21488chr3136477289:136477412:136500223:136500296:136502628:136502779136500223:136500296
exon_skip_226884chr3136349158:136349363:136357720:136357848:136359148:136359189136357720:136357848
exon_skip_227286chr3136338370:136338450:136340491:136340605:136343832:136344006136340491:136340605
exon_skip_227353chr3136586802:136586926:136591445:136591549:136604309:136604473136591445:136591549
exon_skip_250905chr3136340503:136340605:136341441:136341551:136343832:136344006136341441:136341551
exon_skip_257369chr3136338095:136338277:136338370:136338450:136340491:136340605136338370:136338450
exon_skip_264390chr3136452033:136452147:136464881:136464988:136472413:136472492136464881:136464988
exon_skip_264904chr3136421093:136421163:136422410:136422613:136422768:136422857136422410:136422613
exon_skip_276794chr3136604309:136604473:136623146:136623248:136630870:136630981136623146:136623248
exon_skip_42331chr3136568765:136568861:136586802:136586926:136591445:136591549136586802:136586926
exon_skip_56513chr3136338370:136338450:136340491:136340605:136341441:136341551136340491:136340605
exon_skip_60967chr3136502628:136502779:136518248:136518415:136521213:136521417136518248:136518415
exon_skip_63431chr3136359148:136359296:136363366:136363467:136366943:136367080136363366:136363467
exon_skip_63641chr3136542119:136542195:136568765:136568861:136604309:136604473136568765:136568861
exon_skip_88764chr3136369108:136369282:136377660:136377752:136398749:136398829136377660:136377752
exon_skip_91272chr3136452038:136452147:136464881:136464988:136472413:136472492136464881:136464988

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 STAG1

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
ENST00000383202136421093136421163Frame-shift
ENST00000383202136542119136542195Frame-shift
ENST00000383202136568765136568861Frame-shift
ENST00000383202136623146136623248Frame-shift
ENST00000383202136341441136341551In-frame
ENST00000383202136363366136363467In-frame
ENST00000383202136377660136377752In-frame
ENST00000383202136398749136398829In-frame
ENST00000383202136464881136464988In-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
ENST00000383202136359148136359296Frame-shift
ENST00000383202136369108136369282Frame-shift
ENST00000383202136500223136500296Frame-shift
ENST00000383202136568765136568861Frame-shift
ENST00000383202136623146136623248Frame-shift
ENST00000383202136377660136377752In-frame
ENST00000383202136398749136398829In-frame
ENST00000383202136464881136464988In-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
ENST00000383202136340491136340605Frame-shift
ENST00000383202136343832136344006Frame-shift
ENST00000383202136359148136359296Frame-shift
ENST00000383202136369108136369282Frame-shift
ENST00000383202136421093136421163Frame-shift
ENST00000383202136500223136500296Frame-shift
ENST00000383202136542119136542195Frame-shift
ENST00000383202136568765136568861Frame-shift
ENST00000383202136623146136623248Frame-shift
ENST00000383202136338370136338450In-frame
ENST00000383202136341441136341551In-frame
ENST00000383202136357720136357848In-frame
ENST00000383202136363366136363467In-frame
ENST00000383202136377660136377752In-frame
ENST00000383202136398749136398829In-frame
ENST00000383202136422410136422613In-frame
ENST00000383202136464881136464988In-frame

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Infer the effects of exon skipping event on protein functional features for STAG1

p-ENSG00000118007_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
ENST000003832026072125813646488113646498814631569402437
ENST000003832026072125813639874913639882924542533732758
ENST000003832026072125813637766013637775225352626759789
ENST000003832026072125813636336613636346729433043895928
ENST00000383202607212581363414411363415513704381311491185

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
ENST000003832026072125813646488113646498814631569402437
ENST000003832026072125813639874913639882924542533732758
ENST000003832026072125813637766013637775225352626759789

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
ENST000003832026072125813646488113646498814631569402437
ENST000003832026072125813642241013642261320912293611678
ENST000003832026072125813639874913639882924542533732758
ENST000003832026072125813637766013637775225352626759789
ENST000003832026072125813636336613636346729433043895928
ENST0000038320260721258136357720136357848319433219791021
ENST00000383202607212581363414411363415513704381311491185
ENST00000383202607212581363383701363384503930400912241250

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
Q8WVM740243711258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM773275811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM7732758756756Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q8WVM775978911258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM789592811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM71149118511501186Alternative sequenceID=VSP_054496;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8WVM71149118511258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM71149118511611161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733

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
Q8WVM740243711258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM773275811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM7732758756756Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q8WVM775978911258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1

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
Q8WVM740243711258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM761167811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM7611678645645Sequence conflictNote=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8WVM773275811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM7732758756756Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q8WVM775978911258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM789592811258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM7979102111258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM79791021979979Natural variantID=VAR_079494;Note=In MRD47. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28119487;Dbxref=PMID:28119487
Q8WVM71149118511501186Alternative sequenceID=VSP_054496;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8WVM71149118511258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1
Q8WVM71149118511611161Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q8WVM71224125011258ChainID=PRO_0000120182;Note=Cohesin subunit SA-1


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3'-UTR located exon skipping events that lost miRNA binding sites in STAG1

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

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SNVs in the skipped exons for STAG1

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 STAG1

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 STAG1

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 STAG1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBPCBP1exon_skip_276794-4.970247e-012.031858e-10
CBPCBP4exon_skip_2767944.347334e-014.661406e-08
CBHNRNPFexon_skip_276794-4.211016e-011.333373e-07
IFGCPEB1exon_skip_636414.419352e-013.946848e-02
IFGKHDRBS2exon_skip_276794-4.417466e-011.859995e-02

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RelatedDrugs for STAG1

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 STAG1

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