ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for STAG2

Gene summary

Gene information	Gene symbol	STAG2
	Gene ID	10735
	Gene name	stromal antigen 2
	Synonyms	MKMS\|NEDXCF\|SA-2\|SA2\|SCC3B\|bA517O1.1
	Cytomap	Xq25
	Type of gene	protein-coding
	Description	cohesin subunit SA-2SCC3 homolog 2
	Modification date	20200327
	UniProtAcc	B1AMS8, B1AMS9, B1AMT0, B1AMT1, B1AMT2, B1AMT3, B1AMT4, E7ERE6, Q8N3U4,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for STAG2

Skipped 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.

ENSG00000101972

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
TC	DOWN	ENST00000483575.5	STAG2-218:lncRNA:STAG2	2.055649e+00	-3.622585e+00	4.825257e-03	3.264524e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for STAG2

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

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_11913	chrX	124025840:124025918:124026565:124026687:124030961:124031048	124026565:124026687
exon_skip_121006	chrX	123961823:123961856:123962079:123962106:124022531:124022552	123962079:123962106
exon_skip_123421	chrX	124025840:124025918:124030961:124031125:124037527:124037585	124030961:124031125
exon_skip_133631	chrX	123962094:123962106:124021367:124021431:124022531:124022552	124021367:124021431
exon_skip_141991	chrX	124077957:124078058:124081380:124081528:124083421:124083549	124081380:124081528
exon_skip_146724	chrX	124081380:124081528:124083421:124083549:124086547:124086770	124083421:124083549
exon_skip_191928	chrX	124030961:124031125:124037527:124037623:124042569:124042645	124037527:124037623
exon_skip_211989	chrX	123961314:123961435:123961786:123961856:124022531:124022552	123961786:123961856
exon_skip_215518	chrX	124051315:124051394:124056128:124056235:124057866:124057977	124056128:124056235
exon_skip_234048	chrX	124051320:124051394:124056128:124056235:124057866:124057977	124056128:124056235
exon_skip_245416	chrX	123961823:123961856:124021367:124021431:124022531:124022552	124021367:124021431
exon_skip_248746	chrX	124090649:124090764:124090854:124090964:124094018:124094144	124090854:124090964
exon_skip_248850	chrX	124090637:124090764:124090854:124090964:124094018:124094144	124090854:124090964
exon_skip_290465	chrX	124090575:124090764:124090854:124090964:124094018:124094037	124090854:124090964
exon_skip_294723	chrX	124090575:124090764:124090854:124090964:124094018:124094144	124090854:124090964
exon_skip_50889	chrX	123961318:123961435:123961786:123961856:124022531:124022552	123961786:123961856
exon_skip_52495	chrX	123960695:123960866:124021367:124021431:124022531:124022552	124021367:124021431
exon_skip_84515	chrX	124037527:124037623:124042569:124042645:124045164:124045208	124042569:124042645
exon_skip_87608	chrX	123961318:123961435:124021367:124021431:124022531:124022552	124021367:124021431
exon_skip_93807	chrX	124076332:124076471:124077957:124078058:124081380:124081528	124077957:124078058

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for STAG2

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371160	123961786	123961856	5UTR-5UTR
ENST00000371144	124021367	124021431	5UTR-5UTR
ENST00000371144	124056128	124056235	In-frame
ENST00000371157	124056128	124056235	In-frame
ENST00000371160	124056128	124056235	In-frame
ENST00000371144	124083421	124083549	In-frame
ENST00000371157	124083421	124083549	In-frame
ENST00000371160	124083421	124083549	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371160	123961786	123961856	5UTR-5UTR
ENST00000371144	124021367	124021431	5UTR-5UTR
ENST00000371144	124056128	124056235	In-frame
ENST00000371157	124056128	124056235	In-frame
ENST00000371160	124056128	124056235	In-frame
ENST00000371144	124083421	124083549	In-frame
ENST00000371157	124083421	124083549	In-frame
ENST00000371160	124083421	124083549	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000371144	124021367	124021431	5UTR-5UTR
ENST00000371144	124037527	124037623	Frame-shift
ENST00000371157	124037527	124037623	Frame-shift
ENST00000371160	124037527	124037623	Frame-shift
ENST00000371144	124042569	124042645	Frame-shift
ENST00000371157	124042569	124042645	Frame-shift
ENST00000371160	124042569	124042645	Frame-shift
ENST00000371144	124081380	124081528	Frame-shift
ENST00000371157	124081380	124081528	Frame-shift
ENST00000371160	124081380	124081528	Frame-shift
ENST00000371144	124030961	124031125	In-frame
ENST00000371157	124030961	124031125	In-frame
ENST00000371160	124030961	124031125	In-frame
ENST00000371144	124056128	124056235	In-frame
ENST00000371157	124056128	124056235	In-frame
ENST00000371160	124056128	124056235	In-frame
ENST00000371144	124077957	124078058	In-frame
ENST00000371157	124077957	124078058	In-frame
ENST00000371160	124077957	124078058	In-frame
ENST00000371144	124083421	124083549	In-frame
ENST00000371157	124083421	124083549	In-frame
ENST00000371160	124083421	124083549	In-frame

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Infer the effects of exon skipping event on protein functional features for STAG2

p-ENSG00000101972_img4.png
boxplot

Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000371144	4298	1231	124056128	124056235	1478	1584	399	434
ENST00000371157	6008	1231	124056128	124056235	1434	1540	399	434
ENST00000371160	6062	1231	124056128	124056235	1488	1594	399	434
ENST00000371144	4298	1231	124083421	124083549	3206	3333	975	1017
ENST00000371157	6008	1231	124083421	124083549	3162	3289	975	1017
ENST00000371160	6062	1231	124083421	124083549	3216	3343	975	1017

Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000371144	4298	1231	124056128	124056235	1478	1584	399	434
ENST00000371157	6008	1231	124056128	124056235	1434	1540	399	434
ENST00000371160	6062	1231	124056128	124056235	1488	1594	399	434
ENST00000371144	4298	1231	124083421	124083549	3206	3333	975	1017
ENST00000371157	6008	1231	124083421	124083549	3162	3289	975	1017
ENST00000371160	6062	1231	124083421	124083549	3216	3343	975	1017

Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000371144	4298	1231	124030961	124031125	405	568	41	96
ENST00000371157	6008	1231	124030961	124031125	361	524	41	96
ENST00000371160	6062	1231	124030961	124031125	415	578	41	96
ENST00000371144	4298	1231	124056128	124056235	1478	1584	399	434
ENST00000371157	6008	1231	124056128	124056235	1434	1540	399	434
ENST00000371160	6062	1231	124056128	124056235	1488	1594	399	434
ENST00000371144	4298	1231	124077957	124078058	2955	3055	891	925
ENST00000371157	6008	1231	124077957	124078058	2911	3011	891	925
ENST00000371160	6062	1231	124077957	124078058	2965	3065	891	925
ENST00000371144	4298	1231	124083421	124083549	3206	3333	975	1017
ENST00000371157	6008	1231	124083421	124083549	3162	3289	975	1017
ENST00000371160	6062	1231	124083421	124083549	3216	3343	975	1017

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 feature	Description of feature
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW

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 feature	Description of feature
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW

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 feature	Description of feature
Q8N3U4	41	96	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	41	96	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	41	96	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	41	96	84	90	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	84	90	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	84	90	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	95	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	95	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	95	108	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	41	96	46	46	Sequence conflict	Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	41	96	46	46	Sequence conflict	Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	41	96	46	46	Sequence conflict	Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	402	404	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	419	421	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	384	400	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	407	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	416	418	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	399	434	422	436	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	891	925	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	891	925	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	891	925	893	908	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	893	908	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	893	908	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	912	934	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	912	934	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	912	934	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	887	892	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	887	892	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	891	925	887	892	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	982	984	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJU
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	987	989	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	1	1231	Chain	ID=PRO_0000120185;Note=Cohesin subunit SA-2
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	968	981	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	995	998	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PK7
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	999	1003	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1012	1022	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	992	992	Sequence conflict	Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW
Q8N3U4	975	1017	1004	1009	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PJW

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3'-UTR located exon skipping events that lost miRNA binding sites in STAG2

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for STAG2

- Differential PSIs between mutated versus non-mutated samples.

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

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

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

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AD stage-associated exon skippint events for STAG2

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAG2

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for STAG2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM4	exon_skip_294723	4.368882e-01	1.061778e-08
IFG	DAZAP1	exon_skip_294723	4.956867e-01	7.310786e-03
IFG	CNOT4	exon_skip_294723	4.291193e-01	2.268594e-02
IFG	SF1	exon_skip_294723	4.397591e-01	1.919958e-02
IFG	PABPC1	exon_skip_294723	5.045872e-01	6.176461e-03
TC	ZNF326	exon_skip_290465	4.693214e-01	3.848062e-10

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RelatedDrugs for STAG2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for STAG2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for STAG2

Gene structures and expression levels for STAG2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for STAG2

Open reading frame (ORF) annotation in the exon skipping event for STAG2

Infer the effects of exon skipping event on protein functional features for STAG2

3'-UTR located exon skipping events that lost miRNA binding sites in STAG2

SNVs in the skipped exons for STAG2

AD stage-associated exon skippint events for STAG2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAG2

Correlation with RNA binding proteins (RBPs) for STAG2

RelatedDrugs for STAG2

RelatedDiseases for STAG2