ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PPP1R9A

Gene summary

Gene information	Gene symbol	PPP1R9A
	Gene ID	55607
	Gene name	protein phosphatase 1 regulatory subunit 9A
	Synonyms	NRB1\|NRBI\|Neurabin-I
	Cytomap	7q21.3
	Type of gene	protein-coding
	Description	neurabin-1neural tissue-specific F-actin-binding protein Iprotein phosphatase 1, regulatory (inhibitor) subunit 9A
	Modification date	20200313
	UniProtAcc	A4D1I0, B7ZLX4, C9J3G5, C9J730, Q9ULJ8,
	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 PPP1R9A

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.

ENSG00000158528

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
CB	UP	ENST00000289495.7	PPP1R9A-201:protein_coding:PPP1R9A	5.535187e+00	1.151699e+00	3.612481e-05	3.124992e-04
CB	UP	ENST00000422324.1	PPP1R9A-204:protein_coding:PPP1R9A	2.817440e+00	8.781717e-01	1.407337e-04	9.908772e-04
TC	UP	ENST00000433360.6	PPP1R9A-206:protein_coding:PPP1R9A	2.240711e+02	9.294068e-01	6.137887e-12	1.730130e-09

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 PPP1R9A

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_115812	chr7	95287110:95287133:95288536:95288718:95290091:95290234	95288536:95288718
exon_skip_133912	chr7	95274085:95274168:95284018:95284216:95286206:95286325	95284018:95284216
exon_skip_152232	chr7	95198349:95198484:95225961:95226116:95247473:95247526	95225961:95226116
exon_skip_153465	chr7	95286206:95286325:95287110:95287133:95288536:95288621	95287110:95287133
exon_skip_162570	chr7	95274085:95274168:95284018:95284330:95286206:95286325	95284018:95284330
exon_skip_169913	chr7	95286206:95286325:95287110:95287133:95288536:95288718	95287110:95287133
exon_skip_196379	chr7	95286206:95286325:95288536:95288718:95290091:95290355	95288536:95288718
exon_skip_235533	chr7	95286206:95286325:95288536:95288718:95290091:95290234	95288536:95288718
exon_skip_248457	chr7	95120712:95120832:95161867:95161971:95198349:95198484	95161867:95161971
exon_skip_261220	chr7	95287110:95287133:95288536:95288718:95290091:95290355	95288536:95288718
exon_skip_273886	chr7	95198349:95198484:95203665:95203730:95225961:95226116	95203665:95203730
exon_skip_289003	chr7	95287110:95287133:95288536:95288718:95290091:95290292	95288536:95288718

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
exon_skip_169913	MSBB_IFG	7.793750e-01	8.854545e-01	-1.060795e-01	4.480425e-02
exon_skip_169913	Mayo_TC	3.641975e-01	5.251667e-01	-1.609691e-01	1.318384e-06

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Open reading frame (ORF) annotation in the exon skipping event for PPP1R9A

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
ENST00000340694	95161867	95161971	In-frame
ENST00000433881	95161867	95161971	In-frame
ENST00000340694	95225961	95226116	In-frame
ENST00000433881	95225961	95226116	In-frame
ENST00000340694	95287110	95287133	In-frame
ENST00000433881	95287110	95287133	In-frame
ENST00000340694	95288536	95288718	In-frame
ENST00000433881	95288536	95288718	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
ENST00000340694	95161867	95161971	In-frame
ENST00000433881	95161867	95161971	In-frame
ENST00000340694	95225961	95226116	In-frame
ENST00000433881	95225961	95226116	In-frame
ENST00000340694	95287110	95287133	In-frame
ENST00000433881	95287110	95287133	In-frame
ENST00000340694	95288536	95288718	In-frame
ENST00000433881	95288536	95288718	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
ENST00000340694	95161867	95161971	In-frame
ENST00000433881	95161867	95161971	In-frame
ENST00000340694	95225961	95226116	In-frame
ENST00000433881	95225961	95226116	In-frame
ENST00000340694	95287110	95287133	In-frame
ENST00000433881	95287110	95287133	In-frame
ENST00000340694	95288536	95288718	In-frame
ENST00000433881	95288536	95288718	In-frame

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Infer the effects of exon skipping event on protein functional features for PPP1R9A

p-ENSG00000158528_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
ENST00000340694	9706	1098	95161867	95161971	1933	2036	550	584
ENST00000433881	9945	1098	95161867	95161971	2183	2286	550	584
ENST00000340694	9706	1098	95225961	95226116	2174	2328	630	682
ENST00000433881	9945	1098	95225961	95226116	2424	2578	630	682
ENST00000340694	9706	1098	95288536	95288718	3185	3366	967	1028
ENST00000433881	9945	1098	95288536	95288718	3435	3616	967	1028

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
ENST00000340694	9706	1098	95161867	95161971	1933	2036	550	584
ENST00000433881	9945	1098	95161867	95161971	2183	2286	550	584
ENST00000340694	9706	1098	95225961	95226116	2174	2328	630	682
ENST00000433881	9945	1098	95225961	95226116	2424	2578	630	682
ENST00000340694	9706	1098	95288536	95288718	3185	3366	967	1028
ENST00000433881	9945	1098	95288536	95288718	3435	3616	967	1028

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
ENST00000340694	9706	1098	95161867	95161971	1933	2036	550	584
ENST00000433881	9945	1098	95161867	95161971	2183	2286	550	584
ENST00000340694	9706	1098	95225961	95226116	2174	2328	630	682
ENST00000433881	9945	1098	95225961	95226116	2424	2578	630	682
ENST00000340694	9706	1098	95288536	95288718	3185	3366	967	1028
ENST00000433881	9945	1098	95288536	95288718	3435	3616	967	1028

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
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	556	560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	582	591	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	504	592	Domain	Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	550	584	570	579	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WF8
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	1	918	Alternative sequence	ID=VSP_011139;Note=In isoform 2. MLKTESSGERTTLRSASPHRNAYRTEFQALKSTFDKPKSDGEQKTKEGEGSQQSRGRKYGSNVNRIKNLFMQMGMEPNENAAVIAKTRGKGGHSSPQRRMKPKEFLEKTDGSVVKLESSVSERISRFDTMYDGPSYSKFTETRKMFERSVHESGQNNRYSPKKEKAGGSEPQDEWGGSKSNRGSTDSLDSLSSRTEAVSPTVSQLSAVFENTDSPSAIISEK
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	630	630	Alternative sequence	ID=VSP_044469;Note=In isoform 3. E->ENTVAELQGMSGNCNNNNNYFLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	670	824	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	630	682	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	920	1028	Alternative sequence	ID=VSP_044471;Note=In isoform 4. NFTFNDDFSPSSTSSADLSGLGAEPKTPGLSQSLALSSDESLDMIDDEILDDGQSPKHSQCQNRAVQEWSVQQVSHWLMSLNLEQYVSEFSAQNITGEQLLQLDGNKLK->PSNSFYNHMHITKLLPPKGLRTSSPESDSGVPPLTPVDSNVPFSSDHIAEFQEEPLDPEMGPLSSMWGDTSLFSTSKSDHDVEESPCHHQTTNKKILREKDDAKDPKSLRA
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	960	967	Alternative sequence	ID=VSP_005121;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	1	1098	Chain	ID=PRO_0000071507;Note=Neurabin-1
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	988	1051	Domain	Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00184
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	974	974	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O35867
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULJ8	967	1028	597	1090	Region	Note=Interaction with TGN38;Ontology_term=ECO:0000250;evidence=ECO:0000250

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3'-UTR located exon skipping events that lost miRNA binding sites in PPP1R9A

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 PPP1R9A

- 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 PPP1R9A

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 PPP1R9A

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_169913	rs10499911	chr7:95242914	1.694975e-04	1.331767e-02
DLPFC	exon_skip_169913	rs17166735	chr7:95262673	4.308637e-04	2.865158e-02

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Correlation with RNA binding proteins (RBPs) for PPP1R9A

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	FXR2	exon_skip_169913	4.105205e-01	3.209573e-06
FL	MSI1	exon_skip_169913	-4.473141e-01	8.592007e-10
FL	FXR2	exon_skip_169913	5.071585e-01	1.456642e-12
HCC	MSI1	exon_skip_153465	-7.135989e-01	6.445872e-42
IFG	FXR2	exon_skip_169913	4.120169e-01	3.272099e-02
PCC	MSI1	exon_skip_169913	-5.856024e-01	2.434103e-19
STG	MSI1	exon_skip_169913	-4.526181e-01	3.581838e-05
TC	RBMS2	exon_skip_273886	4.863733e-01	2.047555e-08
TC	MSI1	exon_skip_169913	-4.694069e-01	4.316285e-09

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RelatedDrugs for PPP1R9A

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 PPP1R9A

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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