ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PPP3CA

Gene summary

Gene information	Gene symbol	PPP3CA
	Gene ID	5530
	Gene name	protein phosphatase 3 catalytic subunit alpha
	Synonyms	ACCIID\|CALN\|CALNA\|CALNA1\|CCN1\|CNA1\|IECEE\|IECEE1\|PPP2B
	Cytomap	4q24
	Type of gene	protein-coding
	Description	serine/threonine-protein phosphatase 2B catalytic subunit alpha isoformCAM-PRP catalytic subunitcalcineurin A alphacalmodulin-dependent calcineurin A subunit alpha isoformprotein phosphatase 2B, catalytic subunit, alpha isoformprotein phosphatase 3 (
	Modification date	20200315
	UniProtAcc	A0A0S2Z4B5, A0A0S2Z4C6, E7ETC2, E9PK68, E9PPC8, H0YAB4, Q08209,
	Context	- 20590401(Fine Mapping of Calcineurin (PPP3CA) Gene Reveals Novel Alternative Splicing Patterns, Association of 5'UTR Trinucleotide Repeat With Addiction Vulnerability, and Differential Isoform Expression in Alzheimer's Disease)

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

Gene	GO ID	GO term	PubMed ID
PPP3CA	GO:0006470	protein dephosphorylation	18815128\|19154138
PPP3CA	GO:0033173	calcineurin-NFAT signaling cascade	19154138\|22688515
PPP3CA	GO:0035690	cellular response to drug	11005320
PPP3CA	GO:0045944	positive regulation of transcription by RNA polymerase II	22688515
PPP3CA	GO:0051592	response to calcium ion	18815128

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Gene structures and expression levels for PPP3CA

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.

ENSG00000138814

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
HCC	UP	ENST00000512215.5	PPP3CA-207:protein_coding:PPP3CA	1.725378e+02	2.651954e+00	1.218011e-17	1.182689e-13
CB	UP	ENST00000394853.8	PPP3CA-202:protein_coding:PPP3CA	7.666963e+02	1.175308e+00	1.601778e-04	1.104689e-03
CB	DOWN	ENST00000512215.5	PPP3CA-207:protein_coding:PPP3CA	2.484679e+03	-1.928387e+00	5.290155e-04	3.022743e-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 PPP3CA

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_112191	chr4	101026050:101026061:101029166:101029195:101032267:101032364	101029166:101029195
exon_skip_118825	chr4	101099611:101099722:101108074:101108161:101108954:101109078	101108074:101108161
exon_skip_121158	chr4	101109005:101109078:101171084:101171226:101195916:101195928	101171084:101171226
exon_skip_174824	chr4	101080532:101080626:101083186:101083263:101093776:101093915	101083186:101083263
exon_skip_179919	chr4	101026019:101026061:101029166:101029195:101032267:101032364	101029166:101029195
exon_skip_190359	chr4	101099611:101099722:101108954:101109078:101195916:101195928	101108954:101109078
exon_skip_203146	chr4	101025318:101026061:101032267:101032364:101040482:101040566	101032267:101032364
exon_skip_232386	chr4	101099611:101099722:101108074:101108161:101108954:101108982	101108074:101108161
exon_skip_244177	chr4	101080532:101080626:101083186:101083263:101093776:101093911	101083186:101083263
exon_skip_254365	chr4	101061087:101061161:101063232:101063357:101080532:101080626	101063232:101063357
exon_skip_274120	chr4	101025318:101026061:101029166:101029195:101032267:101032364	101029166:101029195
exon_skip_77468	chr4	101108954:101109078:101171084:101171226:101195916:101195928	101171084:101171226

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_274120	Mayo_CB	4.923171e-01	6.089474e-01	-1.166303e-01	2.229836e-05

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Open reading frame (ORF) annotation in the exon skipping event for PPP3CA

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
ENST00000394854	101108954	101109078	Frame-shift
ENST00000394854	101029166	101029195	In-frame
ENST00000394854	101063232	101063357	In-frame
ENST00000394854	101083186	101083263	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
ENST00000394854	101029166	101029195	In-frame
ENST00000394854	101063232	101063357	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
ENST00000394854	101029166	101029195	In-frame
ENST00000394854	101063232	101063357	In-frame
ENST00000394854	101083186	101083263	In-frame

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Infer the effects of exon skipping event on protein functional features for PPP3CA

p-ENSG00000138814_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
ENST00000394854	4702	521	101083186	101083263	1467	1543	261	286
ENST00000394854	4702	521	101063232	101063357	1640	1764	318	360
ENST00000394854	4702	521	101029166	101029195	2024	2052	446	456

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
ENST00000394854	4702	521	101063232	101063357	1640	1764	318	360
ENST00000394854	4702	521	101029166	101029195	2024	2052	446	456

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
ENST00000394854	4702	521	101083186	101083263	1467	1543	261	286
ENST00000394854	4702	521	101063232	101063357	1640	1764	318	360
ENST00000394854	4702	521	101029166	101029195	2024	2052	446	456

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
Q08209	261	286	87	318	Alternative sequence	ID=VSP_047755;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	261	286	276	279	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	261	286	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	261	286	262	271	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	261	286	281	281	Metal binding	Note=Zinc%3B via pros nitrogen;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:1AUI,ECO:0000244\|PDB:1M63,ECO:0000244\|PDB
Q08209	261	286	281	281	Natural variant	ID=VAR_080349;Note=In IECEE1%3B unknown pathological significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	261	286	282	282	Natural variant	ID=VAR_080350;Note=In IECEE1%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	261	286	56	340	Region	Note=Catalytic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q08209	318	360	87	318	Alternative sequence	ID=VSP_047755;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	318	359	Alternative sequence	ID=VSP_043378;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	319	325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	318	360	344	346	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	349	369	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	332	Mutagenesis	Note=Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with F-341. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26248042;Dbxref=PMID:26248042
Q08209	318	360	341	341	Mutagenesis	Note=Resistant to cyclosporin A-mediated inhibition. Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with N-288%2C A-228 or 328-V--R-332 DEL. Partial loss in Ca(2+)-mediated transcription factor NFAT activation%3B when asso
Q08209	318	360	56	340	Region	Note=Catalytic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q08209	318	360	327	336	Region	Note=Interaction with PxIxIF motif in substrate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:17502104,ECO:0000269\|PubMed:22343722,ECO:0000269\|PubMed:23468591,ECO:0000269\|
Q08209	318	360	341	369	Region	Note=Calcineurin B binding;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12218175,ECO:0000269\|PubMed:12357034,ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27
Q08209	318	360	352	352	Site	Note=Interaction with PxVP motif in substrate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27974827;Dbxref=PMID:23468591,PMID:27974827
Q08209	446	456	448	457	Alternative sequence	ID=VSP_018562;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:20590401;Dbxref=PMID:14702039,PMID:15489334,PMID:20590401
Q08209	446	456	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	446	456	445	521	Natural variant	ID=VAR_080351;Note=In IECEE1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	446	456	447	447	Natural variant	ID=VAR_080352;Note=In IECEE1%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967

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
Q08209	318	360	87	318	Alternative sequence	ID=VSP_047755;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	318	359	Alternative sequence	ID=VSP_043378;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	319	325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	318	360	344	346	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	349	369	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	332	Mutagenesis	Note=Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with F-341. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26248042;Dbxref=PMID:26248042
Q08209	318	360	341	341	Mutagenesis	Note=Resistant to cyclosporin A-mediated inhibition. Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with N-288%2C A-228 or 328-V--R-332 DEL. Partial loss in Ca(2+)-mediated transcription factor NFAT activation%3B when asso
Q08209	318	360	56	340	Region	Note=Catalytic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q08209	318	360	327	336	Region	Note=Interaction with PxIxIF motif in substrate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:17502104,ECO:0000269\|PubMed:22343722,ECO:0000269\|PubMed:23468591,ECO:0000269\|
Q08209	318	360	341	369	Region	Note=Calcineurin B binding;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12218175,ECO:0000269\|PubMed:12357034,ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27
Q08209	318	360	352	352	Site	Note=Interaction with PxVP motif in substrate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27974827;Dbxref=PMID:23468591,PMID:27974827
Q08209	446	456	448	457	Alternative sequence	ID=VSP_018562;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:20590401;Dbxref=PMID:14702039,PMID:15489334,PMID:20590401
Q08209	446	456	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	446	456	445	521	Natural variant	ID=VAR_080351;Note=In IECEE1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	446	456	447	447	Natural variant	ID=VAR_080352;Note=In IECEE1%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967

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
Q08209	261	286	87	318	Alternative sequence	ID=VSP_047755;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	261	286	276	279	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	261	286	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	261	286	262	271	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	261	286	281	281	Metal binding	Note=Zinc%3B via pros nitrogen;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PDB:1AUI,ECO:0000244\|PDB:1M63,ECO:0000244\|PDB
Q08209	261	286	281	281	Natural variant	ID=VAR_080349;Note=In IECEE1%3B unknown pathological significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	261	286	282	282	Natural variant	ID=VAR_080350;Note=In IECEE1%3B unknown pathological significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	261	286	56	340	Region	Note=Catalytic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q08209	318	360	87	318	Alternative sequence	ID=VSP_047755;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	318	359	Alternative sequence	ID=VSP_043378;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:20590401;Dbxref=PMID:20590401
Q08209	318	360	319	325	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	334	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	318	360	344	346	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	349	369	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4F0Z
Q08209	318	360	328	332	Mutagenesis	Note=Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with F-341. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26248042;Dbxref=PMID:26248042
Q08209	318	360	341	341	Mutagenesis	Note=Resistant to cyclosporin A-mediated inhibition. Loss of Ca(2+)-mediated transcription factor NFAT activation%3B when associated with N-288%2C A-228 or 328-V--R-332 DEL. Partial loss in Ca(2+)-mediated transcription factor NFAT activation%3B when asso
Q08209	318	360	56	340	Region	Note=Catalytic;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q08209	318	360	327	336	Region	Note=Interaction with PxIxIF motif in substrate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:17502104,ECO:0000269\|PubMed:22343722,ECO:0000269\|PubMed:23468591,ECO:0000269\|
Q08209	318	360	341	369	Region	Note=Calcineurin B binding;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12218175,ECO:0000269\|PubMed:12357034,ECO:0000269\|PubMed:17498738,ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27
Q08209	318	360	352	352	Site	Note=Interaction with PxVP motif in substrate;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:23468591,ECO:0000269\|PubMed:27974827;Dbxref=PMID:23468591,PMID:27974827
Q08209	446	456	448	457	Alternative sequence	ID=VSP_018562;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:20590401;Dbxref=PMID:14702039,PMID:15489334,PMID:20590401
Q08209	446	456	2	521	Chain	ID=PRO_0000058822;Note=Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform
Q08209	446	456	445	521	Natural variant	ID=VAR_080351;Note=In IECEE1%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967
Q08209	446	456	447	447	Natural variant	ID=VAR_080352;Note=In IECEE1%3B unknown pathological significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942967;Dbxref=PMID:28942967

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3'-UTR located exon skipping events that lost miRNA binding sites in PPP3CA

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 PPP3CA

- 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 PPP3CA

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

ADstage

MSBB

IFG

exon_skip_274120

-4.300896e-01

2.234799e-02

chr4

101025318

101026061

101029166

101029195

101032267

101032364

CDR

MSBB

IFG

exon_skip_274120

-5.148387e-01

5.058073e-03

chr4

101025318

101026061

101029166

101029195

101032267

101032364

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP3CA

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 PPP3CA

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for PPP3CA

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 PPP3CA

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 PPP3CA

Gene structures and expression levels for PPP3CA

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PPP3CA

Open reading frame (ORF) annotation in the exon skipping event for PPP3CA

Infer the effects of exon skipping event on protein functional features for PPP3CA

3'-UTR located exon skipping events that lost miRNA binding sites in PPP3CA

SNVs in the skipped exons for PPP3CA

AD stage-associated exon skippint events for PPP3CA

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP3CA

Correlation with RNA binding proteins (RBPs) for PPP3CA

RelatedDrugs for PPP3CA

RelatedDiseases for PPP3CA