ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PPP1R7

Gene summary

Gene information	Gene symbol	PPP1R7
	Gene ID	5510
	Gene name	protein phosphatase 1 regulatory subunit 7
	Synonyms	SDS22
	Cytomap	2q37.3
	Type of gene	protein-coding
	Description	protein phosphatase 1 regulatory subunit 7protein phosphatase 1 regulatory subunit 22protein phosphatase 1, regulatory (inhibitor) subunit 7testis secretory sperm-binding protein Li 210a
	Modification date	20200315
	UniProtAcc	A0A140VK83, B5MBZ8, C9J177, C9JD73, C9JRC4, H7C003, H7C118, H7C3Q5, Q15435,
	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 PPP1R7

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.

ENSG00000115685

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	ENST00000498170.5	PPP1R7-220:retained_intron:PPP1R7	1.149064e+01	1.098821e+00	1.059264e-04	7.773985e-04
CB	DOWN	ENST00000401987.5	PPP1R7-203:protein_coding:PPP1R7	7.162042e+00	-5.137613e+00	2.311800e-04	1.504832e-03

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 PPP1R7

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_115833	chr2	241160332:241160494:241163285:241163401:241166337:241166439	241163285:241163401
exon_skip_148136	chr2	241157807:241157862:241158466:241158549:241159213:241159303	241158466:241158549
exon_skip_149699	chr2	241166341:241166441:241169781:241169867:241182647:241182740	241169781:241169867
exon_skip_158659	chr2	241158484:241158549:241159213:241159343:241160332:241160421	241159213:241159343
exon_skip_18100	chr2	241150496:241150547:241153483:241153604:241157807:241157861	241153483:241153604
exon_skip_196063	chr2	241150496:241150547:241153476:241153604:241157807:241157862	241153476:241153604
exon_skip_239168	chr2	241150496:241150547:241153483:241153604:241157807:241157862	241153483:241153604
exon_skip_251298	chr2	241150467:241150547:241153483:241153604:241157807:241157862	241153483:241153604
exon_skip_258584	chr2	241157807:241157862:241158484:241158549:241159213:241159303	241158484:241158549
exon_skip_261014	chr2	241159213:241159343:241160332:241160494:241163285:241163401	241160332:241160494
exon_skip_277107	chr2	241149638:241149708:241150259:241150547:241153476:241153604	241150259:241150547
exon_skip_57409	chr2	241157807:241157862:241158484:241158531:241159213:241159303	241158484:241158531
exon_skip_58819	chr2	241150496:241150547:241153476:241153604:241157807:241157861	241153476:241153604

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 PPP1R7

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
ENST00000407025	241150259	241150547	5CDS-5UTR
ENST00000234038	241159213	241159343	Frame-shift
ENST00000407025	241159213	241159343	Frame-shift
ENST00000234038	241160332	241160494	Frame-shift
ENST00000407025	241160332	241160494	Frame-shift
ENST00000234038	241153476	241153604	In-frame
ENST00000407025	241153476	241153604	In-frame
ENST00000234038	241158484	241158549	In-frame
ENST00000407025	241158484	241158549	In-frame
ENST00000234038	241163285	241163401	In-frame
ENST00000407025	241163285	241163401	In-frame
ENST00000234038	241169781	241169867	In-frame
ENST00000407025	241169781	241169867	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
ENST00000234038	241153476	241153604	In-frame
ENST00000407025	241153476	241153604	In-frame
ENST00000234038	241169781	241169867	In-frame
ENST00000407025	241169781	241169867	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
ENST00000407025	241150259	241150547	5CDS-5UTR
ENST00000234038	241159213	241159343	Frame-shift
ENST00000407025	241159213	241159343	Frame-shift
ENST00000234038	241153476	241153604	In-frame
ENST00000407025	241153476	241153604	In-frame
ENST00000234038	241163285	241163401	In-frame
ENST00000407025	241163285	241163401	In-frame
ENST00000234038	241169781	241169867	In-frame
ENST00000407025	241169781	241169867	In-frame

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Infer the effects of exon skipping event on protein functional features for PPP1R7

p-ENSG00000115685_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
ENST00000234038	2403	360	241153476	241153604	528	655	18	60
ENST00000407025	1609	360	241153476	241153604	362	489	18	60
ENST00000234038	2403	360	241158484	241158549	713	777	79	101
ENST00000407025	1609	360	241158484	241158549	547	611	79	101
ENST00000234038	2403	360	241163285	241163401	1073	1188	199	238
ENST00000407025	1609	360	241163285	241163401	907	1022	199	238
ENST00000234038	2403	360	241169781	241169867	1295	1380	273	302
ENST00000407025	1609	360	241169781	241169867	1129	1214	273	302

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
ENST00000234038	2403	360	241153476	241153604	528	655	18	60
ENST00000407025	1609	360	241153476	241153604	362	489	18	60
ENST00000234038	2403	360	241169781	241169867	1295	1380	273	302
ENST00000407025	1609	360	241169781	241169867	1129	1214	273	302

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
ENST00000234038	2403	360	241153476	241153604	528	655	18	60
ENST00000407025	1609	360	241153476	241153604	362	489	18	60
ENST00000234038	2403	360	241163285	241163401	1073	1188	199	238
ENST00000407025	1609	360	241163285	241163401	907	1022	199	238
ENST00000234038	2403	360	241169781	241169867	1295	1380	273	302
ENST00000407025	1609	360	241169781	241169867	1129	1214	273	302

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
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	79	101	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	79	101	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	79	101	77	98	Repeat	Note=LRR 1
Q15435	79	101	77	98	Repeat	Note=LRR 1
Q15435	79	101	99	120	Repeat	Note=LRR 2
Q15435	79	101	99	120	Repeat	Note=LRR 2
Q15435	199	238	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	199	238	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	199	238	214	214	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	199	238	214	214	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	199	238	187	208	Repeat	Note=LRR 6
Q15435	199	238	187	208	Repeat	Note=LRR 6
Q15435	199	238	209	230	Repeat	Note=LRR 7
Q15435	199	238	209	230	Repeat	Note=LRR 7
Q15435	199	238	231	252	Repeat	Note=LRR 8
Q15435	199	238	231	252	Repeat	Note=LRR 8
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	297	318	Repeat	Note=LRR 11
Q15435	273	302	297	318	Repeat	Note=LRR 11

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
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	297	318	Repeat	Note=LRR 11
Q15435	273	302	297	318	Repeat	Note=LRR 11

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
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	1	60	Alternative sequence	ID=VSP_055672;Note=In isoform 5. MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPE->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	18	60	Alternative sequence	ID=VSP_019244;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	24	24	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	27	27	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18318008,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:18318008,PMID:20068231,PMID:21406692,PMID
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	44	44	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	18	60	47	47	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:24275569
Q15435	199	238	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	199	238	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	199	238	214	214	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	199	238	214	214	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	199	238	187	208	Repeat	Note=LRR 6
Q15435	199	238	187	208	Repeat	Note=LRR 6
Q15435	199	238	209	230	Repeat	Note=LRR 7
Q15435	199	238	209	230	Repeat	Note=LRR 7
Q15435	199	238	231	252	Repeat	Note=LRR 8
Q15435	199	238	231	252	Repeat	Note=LRR 8
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	274	280	Alternative sequence	ID=VSP_019245;Note=In isoform 3%2C isoform 4 and isoform 5. NKLTMLD->VQDSLTY;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	281	360	Alternative sequence	ID=VSP_019246;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|Ref.3;Dbxref=PMID:15489334
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	2	360	Chain	ID=PRO_0000239613;Note=Protein phosphatase 1 regulatory subunit 7
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	280	280	Mutagenesis	Note=Severely impairs the binding of protein phosphatase 1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	300	300	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	302	302	Mutagenesis	Note=Completely abolishes the interaction with protein phosphatase 1. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12226088;Dbxref=PMID:12226088
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	253	274	Repeat	Note=LRR 9
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	275	296	Repeat	Note=LRR 10
Q15435	273	302	297	318	Repeat	Note=LRR 11
Q15435	273	302	297	318	Repeat	Note=LRR 11

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3'-UTR located exon skipping events that lost miRNA binding sites in PPP1R7

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 PPP1R7

- 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 PPP1R7

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 PPP1R7

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 PPP1R7

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for PPP1R7

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 PPP1R7

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 PPP1R7

Gene structures and expression levels for PPP1R7

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PPP1R7

Open reading frame (ORF) annotation in the exon skipping event for PPP1R7

Infer the effects of exon skipping event on protein functional features for PPP1R7

3'-UTR located exon skipping events that lost miRNA binding sites in PPP1R7

SNVs in the skipped exons for PPP1R7

AD stage-associated exon skippint events for PPP1R7

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R7

Correlation with RNA binding proteins (RBPs) for PPP1R7

RelatedDrugs for PPP1R7

RelatedDiseases for PPP1R7