ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PPP1R12A

Gene summary

Gene information	Gene symbol	PPP1R12A
	Gene ID	4659
	Gene name	protein phosphatase 1 regulatory subunit 12A
	Synonyms	GUBS\|M130\|MBS\|MYPT1
	Cytomap	12q21.2-q21.31
	Type of gene	protein-coding
	Description	protein phosphatase 1 regulatory subunit 12Amyosin binding subunitmyosin phosphatase, target subunit 1myosin phosphatase-targeting subunit 1protein phosphatase 1, regulatory (inhibitor) subunit 12Aprotein phosphatase myosin-binding subunit
	Modification date	20200328
	UniProtAcc	A0A024RBF1, A0A0U1RQZ1, A0A3B3ISH4, F8VW28, F8VZN8, H0YHI8, H0YHL8, H0YIL7, H0YIM2, H0YIS3, H0YIS4, O14974,
	Context

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

Gene	GO ID	GO term	PubMed ID
PPP1R12A	GO:0030155	regulation of cell adhesion	20354225
PPP1R12A	GO:0035507	regulation of myosin-light-chain-phosphatase activity	20354225
PPP1R12A	GO:0043086	negative regulation of catalytic activity	19245366
PPP1R12A	GO:0045944	positive regulation of transcription by RNA polymerase II	19245366

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Gene structures and expression levels for PPP1R12A

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.

ENSG00000058272

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	ENST00000547253.5	PPP1R12A-207:retained_intron:PPP1R12A	1.015659e+01	9.664261e-01	3.549754e-10	1.859240e-08
CB	UP	ENST00000550107.5	PPP1R12A-213:protein_coding:PPP1R12A	6.939400e+01	1.468314e+00	5.968437e-09	1.950574e-07
CB	UP	ENST00000550510.5	PPP1R12A-216:protein_coding:PPP1R12A	4.522804e+00	2.052686e+00	8.279783e-08	1.809258e-06
CB	UP	ENST00000550007.1	PPP1R12A-212:retained_intron:PPP1R12A	8.861008e+00	1.048279e+00	9.491150e-06	1.008763e-04
CB	UP	ENST00000547330.5	PPP1R12A-208:protein_coding:PPP1R12A	1.168392e+01	1.188287e+00	4.989796e-05	4.105442e-04
CB	UP	ENST00000546762.5	PPP1R12A-205:nonsense_mediated_decay:PPP1R12A	3.526549e+01	8.019761e-01	1.717146e-04	1.169969e-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 PPP1R12A

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_106075	chr12	79798494:79798584:79806166:79806333:79807226:79807330	79806166:79806333
exon_skip_108535	chr12	79821112:79821166:79828320:79828464:79832332:79832491	79828320:79828464
exon_skip_118206	chr12	79788648:79788783:79789598:79789680:79790467:79790483	79789598:79789680
exon_skip_121358	chr12	79798494:79798584:79805592:79805768:79807226:79807330	79805592:79805768
exon_skip_132988	chr12	79781815:79781862:79786374:79786478:79788648:79788752	79786374:79786478
exon_skip_135071	chr12	79781815:79781862:79786374:79786478:79788648:79788783	79786374:79786478
exon_skip_137069	chr12	79822116:79822190:79828320:79828464:79832332:79832491	79828320:79828464
exon_skip_141970	chr12	79805642:79805768:79806166:79806333:79807226:79807330	79806166:79806333
exon_skip_146257	chr12	79778550:79778600:79779321:79779351:79781815:79781860	79779321:79779351
exon_skip_188356	chr12	79805592:79805768:79807226:79807330:79808483:79808577	79807226:79807330
exon_skip_194036	chr12	79805592:79805768:79806166:79806297:79807226:79807330	79806166:79806297
exon_skip_197496	chr12	79821112:79821166:79822116:79822190:79828320:79828464	79822116:79822190
exon_skip_198420	chr12	79775935:79776015:79778550:79779351:79781815:79781862	79778550:79779351
exon_skip_203028	chr12	79798494:79798584:79805592:79805768:79806166:79806178	79805592:79805768
exon_skip_20995	chr12	79778550:79778600:79779339:79779351:79781815:79781862	79779339:79779351
exon_skip_21750	chr12	79809795:79810010:79810395:79810511:79817394:79817518	79810395:79810511
exon_skip_218891	chr12	79797347:79797395:79798494:79798584:79805592:79805768	79798494:79798584
exon_skip_230039	chr12	79790467:79790483:79793863:79793928:79795638:79795759	79793863:79793928
exon_skip_242043	chr12	79805718:79805768:79806166:79806333:79807226:79807330	79806166:79806333
exon_skip_242766	chr12	79805592:79805768:79806166:79806333:79807226:79807330	79806166:79806333
exon_skip_253116	chr12	79781815:79781862:79782571:79782595:79786374:79786478	79782571:79782595
exon_skip_254042	chr12	79778550:79778600:79779339:79779351:79781815:79781860	79779339:79779351
exon_skip_25715	chr12	79805718:79805768:79806166:79806297:79807226:79807330	79806166:79806297
exon_skip_260978	chr12	79781815:79781862:79788648:79788783:79790467:79790483	79788648:79788783
exon_skip_263755	chr12	79793863:79793928:79795638:79795759:79796782:79796790	79795638:79795759
exon_skip_273719	chr12	79778550:79778600:79779321:79779351:79781815:79781862	79779321:79779351
exon_skip_2769	chr12	79798494:79798584:79805592:79805768:79806166:79806250	79805592:79805768
exon_skip_288731	chr12	79775935:79776015:79778550:79778600:79781815:79781860	79778550:79778600
exon_skip_34939	chr12	79806166:79806333:79807226:79807330:79808483:79808577	79807226:79807330
exon_skip_73122	chr12	79805642:79805768:79806166:79806297:79807226:79807330	79806166:79806297
exon_skip_82180	chr12	79775935:79776015:79778550:79778600:79781815:79781862	79778550:79778600
exon_skip_83341	chr12	79809795:79810010:79810395:79810511:79817394:79817443	79810395:79810511
exon_skip_95139	chr12	79798494:79798584:79805592:79805768:79806166:79806297	79805592:79805768

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_242766	MSBB_PG	6.045038e-01	7.790909e-01	-1.745871e-01	1.463561e-04

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Open reading frame (ORF) annotation in the exon skipping event for PPP1R12A

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
ENST00000261207	79795638	79795759	Frame-shift
ENST00000450142	79795638	79795759	Frame-shift
ENST00000261207	79798494	79798584	Frame-shift
ENST00000450142	79798494	79798584	Frame-shift
ENST00000261207	79828320	79828464	Frame-shift
ENST00000450142	79828320	79828464	Frame-shift
ENST00000261207	79778550	79778600	In-frame
ENST00000450142	79778550	79778600	In-frame
ENST00000261207	79786374	79786478	In-frame
ENST00000450142	79786374	79786478	In-frame
ENST00000261207	79805592	79805768	In-frame
ENST00000450142	79805592	79805768	In-frame
ENST00000261207	79806166	79806333	In-frame
ENST00000450142	79806166	79806333	In-frame
ENST00000261207	79807226	79807330	In-frame
ENST00000450142	79807226	79807330	In-frame
ENST00000261207	79822116	79822190	In-frame
ENST00000450142	79822116	79822190	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
ENST00000261207	79786374	79786478	In-frame
ENST00000450142	79786374	79786478	In-frame
ENST00000261207	79805592	79805768	In-frame
ENST00000450142	79805592	79805768	In-frame
ENST00000261207	79806166	79806333	In-frame
ENST00000450142	79806166	79806333	In-frame
ENST00000261207	79822116	79822190	In-frame
ENST00000450142	79822116	79822190	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
ENST00000261207	79795638	79795759	Frame-shift
ENST00000450142	79795638	79795759	Frame-shift
ENST00000261207	79828320	79828464	Frame-shift
ENST00000450142	79828320	79828464	Frame-shift
ENST00000261207	79778550	79778600	In-frame
ENST00000450142	79778550	79778600	In-frame
ENST00000261207	79786374	79786478	In-frame
ENST00000450142	79786374	79786478	In-frame
ENST00000261207	79793863	79793928	In-frame
ENST00000450142	79793863	79793928	In-frame
ENST00000261207	79805592	79805768	In-frame
ENST00000450142	79805592	79805768	In-frame
ENST00000261207	79806166	79806333	In-frame
ENST00000450142	79806166	79806333	In-frame
ENST00000261207	79822116	79822190	In-frame
ENST00000450142	79822116	79822190	In-frame

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Infer the effects of exon skipping event on protein functional features for PPP1R12A

p-ENSG00000058272_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
ENST00000261207	5599	1030	79822116	79822190	916	989	264	288
ENST00000450142	5738	1030	79822116	79822190	1060	1133	264	288
ENST00000261207	5599	1030	79807226	79807330	1674	1777	517	551
ENST00000450142	5738	1030	79807226	79807330	1818	1921	517	551
ENST00000261207	5599	1030	79806166	79806333	1779	1945	552	607
ENST00000450142	5738	1030	79806166	79806333	1923	2089	552	607
ENST00000261207	5599	1030	79805592	79805768	1947	2122	608	666
ENST00000450142	5738	1030	79805592	79805768	2091	2266	608	666
ENST00000261207	5599	1030	79786374	79786478	2926	3029	934	968
ENST00000450142	5738	1030	79786374	79786478	3070	3173	934	968
ENST00000261207	5599	1030	79778550	79778600	3079	3128	985	1001
ENST00000450142	5738	1030	79778550	79778600	3223	3272	985	1001

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
ENST00000261207	5599	1030	79822116	79822190	916	989	264	288
ENST00000450142	5738	1030	79822116	79822190	1060	1133	264	288
ENST00000261207	5599	1030	79806166	79806333	1779	1945	552	607
ENST00000450142	5738	1030	79806166	79806333	1923	2089	552	607
ENST00000261207	5599	1030	79805592	79805768	1947	2122	608	666
ENST00000450142	5738	1030	79805592	79805768	2091	2266	608	666
ENST00000261207	5599	1030	79786374	79786478	2926	3029	934	968
ENST00000450142	5738	1030	79786374	79786478	3070	3173	934	968

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
ENST00000261207	5599	1030	79822116	79822190	916	989	264	288
ENST00000450142	5738	1030	79822116	79822190	1060	1133	264	288
ENST00000261207	5599	1030	79806166	79806333	1779	1945	552	607
ENST00000450142	5738	1030	79806166	79806333	1923	2089	552	607
ENST00000261207	5599	1030	79805592	79805768	1947	2122	608	666
ENST00000450142	5738	1030	79805592	79805768	2091	2266	608	666
ENST00000261207	5599	1030	79793863	79793928	2707	2771	861	882
ENST00000450142	5738	1030	79793863	79793928	2851	2915	861	882
ENST00000261207	5599	1030	79786374	79786478	2926	3029	934	968
ENST00000450142	5738	1030	79786374	79786478	3070	3173	934	968
ENST00000261207	5599	1030	79778550	79778600	3079	3128	985	1001
ENST00000450142	5738	1030	79778550	79778600	3223	3272	985	1001

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
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	517	551	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	517	551	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	517	551	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	517	551	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	985	1001	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	985	1001	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	985	1001	995	995	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	985	1001	995	995	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163

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
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	264	288	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	552	607	Alternative sequence	ID=VSP_009251;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	552	607	601	601	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18477460;Dbxref=PMID:18477460
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	608	666	Alternative sequence	ID=VSP_009252;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	519	660	Compositional bias	Note=Ser/Thr-rich
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	659	668	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2KJY
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	618	618	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	608	666	653	653	Sequence conflict	Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	861	882	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	861	882	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	861	882	862	862	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
O14974	861	882	862	862	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
O14974	861	882	871	871	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231
O14974	861	882	871	871	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231
O14974	861	882	682	864	Region	Note=Interaction with ROCK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19131646;Dbxref=PMID:19131646
O14974	861	882	682	864	Region	Note=Interaction with ROCK2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19131646;Dbxref=PMID:19131646
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	935	969	Alternative sequence	ID=VSP_009253;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	932	965	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HUZ
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	934	968	959	959	Sequence conflict	Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14974	985	1001	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	985	1001	1	1030	Chain	ID=PRO_0000067025;Note=Protein phosphatase 1 regulatory subunit 12A
O14974	985	1001	995	995	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14974	985	1001	995	995	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163

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3'-UTR located exon skipping events that lost miRNA binding sites in PPP1R12A

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 PPP1R12A

- 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 PPP1R12A

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

CDR

MSBB

IFG

exon_skip_242766

-5.065175e-01

5.951197e-03

chr12

79805592

79805768

79806166

79806333

79807226

79807330

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R12A

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 PPP1R12A

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	ZNF638	exon_skip_194036	-5.350827e-01	6.097543e-10
CB	TRA2A	exon_skip_194036	-5.018927e-01	9.489718e-09
CB	NUP42	exon_skip_194036	5.110494e-01	4.581806e-09
CB	SRSF2	exon_skip_242766	4.818660e-01	1.904446e-09
CB	ZNF638	exon_skip_242766	-5.684831e-01	2.880515e-13
CB	TRA2A	exon_skip_242766	-5.538529e-01	1.525531e-12
CB	NUP42	exon_skip_242766	5.899274e-01	2.145960e-14
CB	RALYL	exon_skip_242766	4.351317e-01	8.652583e-08
CB	DAZAP1	exon_skip_197496	-4.516415e-01	2.132084e-08
CB	RBM3	exon_skip_197496	4.680647e-01	5.497286e-09
CB	TRA2A	exon_skip_197496	-6.488082e-01	4.387629e-18
CB	NUP42	exon_skip_197496	4.655825e-01	6.778298e-09
CB	EIF4G2	exon_skip_197496	-4.845930e-01	1.304767e-09
FL	SRSF2	exon_skip_242766	5.089965e-01	4.085344e-14
FL	MSI1	exon_skip_242766	-4.849011e-01	8.929626e-13
FL	HNRNPK	exon_skip_242766	4.849855e-01	8.837317e-13
FL	RALYL	exon_skip_242766	4.867488e-01	7.108544e-13
FL	HNRNPL	exon_skip_242766	4.862696e-01	7.542731e-13
HCC	MSI1	exon_skip_242766	-6.308714e-01	2.244840e-31
HCC	PABPN1	exon_skip_242766	-4.797617e-01	5.998337e-17
HCC	ZNF638	exon_skip_242766	-4.604972e-01	1.408347e-15
HCC	SRSF11	exon_skip_242766	-4.890129e-01	1.226018e-17
HCC	CNOT4	exon_skip_242766	-4.067128e-01	3.527331e-12
HCC	TRA2A	exon_skip_242766	-4.346857e-01	7.159857e-14
HCC	SRSF4	exon_skip_242766	-5.138034e-01	1.362696e-19
HCC	RBM3	exon_skip_197496	4.788296e-01	8.011129e-17
IFG	IGF2BP2	exon_skip_95139	-5.008946e-01	6.627527e-03
IFG	G3BP2	exon_skip_95139	4.043908e-01	3.281016e-02
IFG	ENOX1	exon_skip_95139	4.731000e-01	1.100206e-02
IFG	PUM1	exon_skip_95139	4.665948e-01	1.231642e-02
IFG	ZNF638	exon_skip_194036	-6.246123e-01	1.886748e-03
IFG	SRSF11	exon_skip_194036	-6.059418e-01	2.799464e-03
IFG	CNOT4	exon_skip_194036	-5.542038e-01	7.441955e-03
IFG	IGF2BP3	exon_skip_194036	-4.607762e-01	3.091460e-02
IFG	TRA2A	exon_skip_194036	-6.794921e-01	5.049457e-04
IFG	PCBP2	exon_skip_194036	-4.322498e-01	4.453311e-02
IFG	SRSF4	exon_skip_194036	-4.906628e-01	2.041929e-02
IFG	MSI1	exon_skip_242766	-4.838848e-01	9.081691e-03
IFG	ZNF638	exon_skip_242766	-4.496855e-01	1.635633e-02
IFG	IGF2BP3	exon_skip_242766	-5.013736e-01	6.567482e-03
IFG	TRA2A	exon_skip_242766	-5.053478e-01	6.086855e-03
PCC	G3BP2	exon_skip_95139	4.116862e-01	1.266000e-09
PCC	MSI1	exon_skip_242043	-5.228778e-01	7.495790e-16
PG	MSI1	exon_skip_242766	-4.750263e-01	7.358319e-12
PG	IGF2BP2	exon_skip_242766	-4.632096e-01	2.787612e-11
PG	HNRNPK	exon_skip_242766	4.561325e-01	6.042579e-11
PG	RALYL	exon_skip_242766	5.764061e-01	7.387137e-18
PG	HNRNPL	exon_skip_242766	4.295997e-01	9.426907e-10
PG	NOVA1	exon_skip_242766	4.268893e-01	1.231851e-09
PG	RBM3	exon_skip_197496	4.433379e-01	4.884972e-11
STG	SRSF2	exon_skip_242766	4.471724e-01	1.586166e-05
STG	HNRNPK	exon_skip_242766	5.159920e-01	3.681072e-07
STG	NUP42	exon_skip_242766	4.252825e-01	4.469607e-05
STG	RALYL	exon_skip_242766	6.179989e-01	2.309368e-10
STG	HNRNPL	exon_skip_242766	5.208980e-01	2.724441e-07
STG	NOVA1	exon_skip_242766	4.496667e-01	1.403102e-05
TC	NUP42	exon_skip_194036	4.006300e-01	1.344968e-06
TC	NOVA1	exon_skip_194036	4.159005e-01	4.767275e-07
TC	SRSF2	exon_skip_242766	5.068377e-01	3.642219e-11
TC	HNRNPK	exon_skip_242766	4.506070e-01	7.204478e-09
TC	NUP42	exon_skip_242766	6.697068e-01	7.255138e-21
TC	RALYL	exon_skip_242766	8.014962e-01	7.283448e-35
TC	NOVA1	exon_skip_242766	6.955672e-01	5.228519e-23

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RelatedDrugs for PPP1R12A

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 PPP1R12A

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 PPP1R12A

Gene structures and expression levels for PPP1R12A

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PPP1R12A

Open reading frame (ORF) annotation in the exon skipping event for PPP1R12A

Infer the effects of exon skipping event on protein functional features for PPP1R12A

3'-UTR located exon skipping events that lost miRNA binding sites in PPP1R12A

SNVs in the skipped exons for PPP1R12A

AD stage-associated exon skippint events for PPP1R12A

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R12A

Correlation with RNA binding proteins (RBPs) for PPP1R12A

RelatedDrugs for PPP1R12A

RelatedDiseases for PPP1R12A