ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ATP2B2

Gene summary

Gene information	Gene symbol	ATP2B2
	Gene ID	491
	Gene name	ATPase plasma membrane Ca2+ transporting 2
	Synonyms	PMCA2\|PMCA2a\|PMCA2i
	Cytomap	3p25.3
	Type of gene	protein-coding
	Description	plasma membrane calcium-transporting ATPase 2ATPase, Ca++ transporting, plasma membrane 2plasma membrane Ca(2+)-ATPaseplasma membrane Ca2+ pump 2plasma membrane calcium ATPaseplasma membrane calcium pump
	Modification date	20200313
	UniProtAcc	A0A024R2E4, A0A2R8Y4R4, A0A2R8Y535, A0A2U3TZI3, A0A2U3U055, A1X4P8, A1X4P9, A2VBC8, L0R6D2, Q01814,
	Context

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

Gene	GO ID	GO term	PubMed ID
ATP2B2	GO:0030182	neuron differentiation	11259493

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Gene structures and expression levels for ATP2B2

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.

ENSG00000157087

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
PCC	DOWN	ENST00000352432.9	ATP2B2-201:protein_coding:ATP2B2	3.835918e+02	-8.222048e-01	3.357855e-06	6.004254e-04
STG	UP	ENST00000644553.1	ATP2B2-211:protein_coding:ATP2B2	2.043942e+01	2.331339e+01	1.724338e-29	4.417807e-26
PG	DOWN	ENST00000352432.9	ATP2B2-201:protein_coding:ATP2B2	7.470779e+02	-9.112135e-01	4.159363e-05	1.430425e-03
CB	DOWN	ENST00000460129.5	ATP2B2-205:nonsense_mediated_decay:ATP2B2	8.739487e+02	-8.393649e-01	6.719726e-09	2.156185e-07
CB	UP	ENST00000480680.2	ATP2B2-208:retained_intron:ATP2B2	1.545720e+02	8.387997e-01	5.167171e-06	6.025180e-05
CB	UP	ENST00000646379.1	ATP2B2-214:protein_coding:ATP2B2	3.163923e+02	8.534969e-01	1.107169e-04	8.065641e-04
TC	DOWN	ENST00000643662.1	ATP2B2-210:protein_coding:ATP2B2	1.477046e+02	-9.738087e-01	1.049337e-03	1.027203e-02

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

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATP2B2

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_114596	chr3	10378252:10378410:10379243:10379284:10388277:10388402	10379243:10379284
exon_skip_122436	chr3	10378287:10378410:10379243:10379284:10388277:10388402	10379243:10379284
exon_skip_154727	chr3	10329103:10329125:10331983:10332037:10336129:10336300	10331983:10332037
exon_skip_160226	chr3	10338176:10338358:10338726:10338915:10340242:10340272	10338726:10338915
exon_skip_168812	chr3	10338176:10338358:10340242:10340349:10340493:10340704	10340242:10340349
exon_skip_181002	chr3	10328811:10329125:10331911:10332037:10336129:10336300	10331911:10332037
exon_skip_191165	chr3	10329103:10329125:10336129:10336300:10338176:10338358	10336129:10336300
exon_skip_200692	chr3	10379243:10379284:10385268:10385327:10386480:10386512	10385268:10385327
exon_skip_204980	chr3	10338176:10338358:10338726:10338915:10340242:10340345	10338726:10338915
exon_skip_227	chr3	10378252:10378410:10379243:10379284:10385268:10385327	10379243:10379284
exon_skip_228549	chr3	10324023:10329125:10331911:10332037:10336129:10336300	10331911:10332037
exon_skip_229043	chr3	10338176:10338358:10338726:10338915:10340242:10340349	10338726:10338915
exon_skip_2293	chr3	10338284:10338358:10338726:10338915:10340242:10340349	10338726:10338915
exon_skip_230963	chr3	10375430:10375644:10378252:10378410:10388277:10388402	10378252:10378410
exon_skip_246920	chr3	10400953:10401078:10402091:10402348:10410618:10410815	10402091:10402348
exon_skip_260714	chr3	10350112:10350199:10350398:10350577:10358691:10358925	10350398:10350577
exon_skip_269735	chr3	10328811:10329125:10336129:10336300:10338176:10338358	10336129:10336300
exon_skip_287324	chr3	10346031:10346137:10350112:10350199:10350398:10350577	10350112:10350199
exon_skip_50426	chr3	10385268:10385327:10386480:10386512:10388277:10388402	10386480:10386512
exon_skip_52653	chr3	10379243:10379284:10385268:10385327:10388277:10388402	10385268:10385327
exon_skip_56310	chr3	10328811:10329125:10331983:10332037:10336129:10336300	10331983:10332037
exon_skip_64610	chr3	10329103:10329125:10331911:10332037:10336129:10336300	10331911:10332037
exon_skip_7821	chr3	10402091:10402348:10410618:10410815:10449345:10449543	10410618:10410815
exon_skip_81182	chr3	10328811:10329125:10336129:10336300:10338176:10338247	10336129:10336300

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 ATP2B2

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
ENST00000360273	10350398	10350577	In-frame
ENST00000645850	10350398	10350577	In-frame
ENST00000360273	10379243	10379284	In-frame
ENST00000645850	10379243	10379284	In-frame
ENST00000360273	10386480	10386512	In-frame
ENST00000645850	10386480	10386512	In-frame
ENST00000360273	10402091	10402348	In-frame
ENST00000645850	10402091	10402348	In-frame
ENST00000360273	10410618	10410815	In-frame
ENST00000645850	10410618	10410815	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
ENST00000360273	10386480	10386512	In-frame
ENST00000645850	10386480	10386512	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
ENST00000360273	10350112	10350199	Frame-shift
ENST00000645850	10350112	10350199	Frame-shift
ENST00000360273	10340242	10340349	In-frame
ENST00000645850	10340242	10340349	In-frame
ENST00000360273	10350398	10350577	In-frame
ENST00000645850	10350398	10350577	In-frame
ENST00000360273	10379243	10379284	In-frame
ENST00000645850	10379243	10379284	In-frame
ENST00000360273	10385268	10385327	In-frame
ENST00000645850	10385268	10385327	In-frame
ENST00000360273	10386480	10386512	In-frame
ENST00000645850	10386480	10386512	In-frame
ENST00000360273	10402091	10402348	In-frame
ENST00000645850	10402091	10402348	In-frame

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Infer the effects of exon skipping event on protein functional features for ATP2B2

p-ENSG00000157087_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
ENST00000360273	8979	1243	10410618	10410815	639	835	66	132
ENST00000645850	4531	1243	10410618	10410815	270	466	66	132
ENST00000360273	8979	1243	10402091	10402348	837	1093	132	218
ENST00000645850	4531	1243	10402091	10402348	468	724	132	218
ENST00000360273	8979	1243	10386480	10386512	1347	1378	302	313
ENST00000645850	4531	1243	10386480	10386512	978	1009	302	313
ENST00000360273	8979	1243	10379243	10379284	1440	1480	333	347
ENST00000645850	4531	1243	10379243	10379284	1071	1111	333	347
ENST00000360273	8979	1243	10350398	10350577	2576	2754	712	771
ENST00000645850	4531	1243	10350398	10350577	2207	2385	712	771

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
ENST00000360273	8979	1243	10386480	10386512	1347	1378	302	313
ENST00000645850	4531	1243	10386480	10386512	978	1009	302	313

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
ENST00000360273	8979	1243	10402091	10402348	837	1093	132	218
ENST00000645850	4531	1243	10402091	10402348	468	724	132	218
ENST00000360273	8979	1243	10386480	10386512	1347	1378	302	313
ENST00000645850	4531	1243	10386480	10386512	978	1009	302	313
ENST00000360273	8979	1243	10385268	10385327	1380	1438	313	333
ENST00000645850	4531	1243	10385268	10385327	1011	1069	313	333
ENST00000360273	8979	1243	10379243	10379284	1440	1480	333	347
ENST00000645850	4531	1243	10379243	10379284	1071	1111	333	347
ENST00000360273	8979	1243	10350398	10350577	2576	2754	712	771
ENST00000645850	4531	1243	10350398	10350577	2207	2385	712	771
ENST00000360273	8979	1243	10340242	10340349	3569	3675	1043	1078
ENST00000645850	4531	1243	10340242	10340349	3200	3306	1043	1078

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
Q01814	66	132	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	66	132	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	66	132	92	94	Sequence conflict	Note=PKT->AKP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	92	94	Sequence conflict	Note=PKT->AKP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	126	126	Sequence conflict	Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	126	126	Sequence conflict	Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	126	126	Sequence conflict	Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	126	126	Sequence conflict	Note=P->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	66	132	1	94	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	66	132	1	94	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	66	132	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	66	132	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	66	132	95	115	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	66	132	95	115	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	132	218	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	132	218	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	153	173	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	153	173	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	333	347	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	333	347	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	333	347	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	334	347	Alternative sequence	ID=VSP_000385;Note=In isoform YA and isoform YB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	334	347	Alternative sequence	ID=VSP_000385;Note=In isoform YA and isoform YB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	333	347	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	333	347	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	333	347	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	712	771	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	712	771	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	712	771	462	875	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	712	771	462	875	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q01814	132	218	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	132	218	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	132	218	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	116	152	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	153	173	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	132	218	153	173	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	302	313	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	313	333	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	313	333	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	313	333	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	313	333	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	313	333	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	313	333	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	313	333	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	313	333	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	333	347	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	333	347	303	347	Alternative sequence	ID=VSP_000384;Note=In isoform ZA and isoform ZB. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1427863,ECO:0000303\|PubMed:8428366;Dbxref=PMID:1427863,PMID:8428366
Q01814	333	347	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	304	334	Alternative sequence	ID=VSP_040837;Note=In isoform XA and isoform XB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	334	347	Alternative sequence	ID=VSP_000385;Note=In isoform YA and isoform YB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	334	347	Alternative sequence	ID=VSP_000385;Note=In isoform YA and isoform YB. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q01814	333	347	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	333	347	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	333	347	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	333	347	174	390	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	712	771	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	712	771	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	712	771	462	875	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	712	771	462	875	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	1043	1078	1	1243	Chain	ID=PRO_0000046214;Note=Plasma membrane calcium-transporting ATPase 2
Q01814	1043	1078	1051	1060	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1051	1060	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1029	1050	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1029	1050	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1061	1082	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q01814	1043	1078	1061	1082	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in ATP2B2

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 ATP2B2

- 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 ATP2B2

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_114596

-4.296922e-01

2.248589e-02

chr3

10378252

10378410

10379243

10379284

10388277

10388402

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP2B2

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_114596	rs741495	chr3:10376245	3.089039e-04	2.311582e-02
HCC	exon_skip_114596	rs13071035	chr3:10376646	3.089039e-04	2.311582e-02
HCC	exon_skip_114596	rs4684687	chr3:10399463	3.460646e-04	2.531582e-02
HCC	exon_skip_114596	rs3774166	chr3:10377161	4.300228e-04	3.005060e-02
HCC	exon_skip_114596	rs1438168	chr3:10395596	5.345195e-04	3.577307e-02
DLPFC	exon_skip_114596	rs3774166	chr3:10377161	5.897095e-14	3.219178e-11
DLPFC	exon_skip_114596	rs9817205	chr3:10394256	1.591021e-11	5.841074e-09
DLPFC	exon_skip_114596	rs4684687	chr3:10399463	1.013914e-10	3.320925e-08
DLPFC	exon_skip_114596	rs741495	chr3:10376245	1.082944e-10	3.519421e-08
DLPFC	exon_skip_114596	rs13071035	chr3:10376646	1.082944e-10	3.519421e-08
DLPFC	exon_skip_114596	rs17032817	chr3:10396641	9.261140e-10	2.574058e-07
DLPFC	exon_skip_114596	rs2289275	chr3:10401228	1.086772e-09	2.976027e-07
DLPFC	exon_skip_114596	rs11710165	chr3:10401406	1.086772e-09	2.976027e-07
DLPFC	exon_skip_114596	rs2075312	chr3:10378654	1.173097e-09	3.196699e-07
DLPFC	exon_skip_114596	rs34923	chr3:10423069	4.615238e-09	1.142138e-06
DLPFC	exon_skip_114596	rs3774158	chr3:10394095	1.218971e-08	2.793150e-06
DLPFC	exon_skip_114596	rs1438168	chr3:10395596	1.280969e-08	2.923181e-06
DLPFC	exon_skip_114596	rs3774152	chr3:10405812	1.616563e-07	2.848476e-05
DLPFC	exon_skip_114596	rs472306	chr3:10427249	6.086597e-07	9.405397e-05
DLPFC	exon_skip_114596	rs40097	chr3:10438403	4.996492e-05	4.626272e-03

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Correlation with RNA binding proteins (RBPs) for ATP2B2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_122436	5.140904e-01	4.182946e-12
DLPFC	SRSF11	exon_skip_52653	-6.158739e-01	1.442653e-31
DLPFC	SRSF11	exon_skip_195618	-4.251659e-01	1.066516e-15
HCC	SRSF11	exon_skip_146559	4.576388e-01	2.808504e-15
HCC	RBM5	exon_skip_146559	5.362950e-01	2.328337e-21
HCC	UNK	exon_skip_146559	5.711601e-01	1.323189e-24
HCC	EWSR1	exon_skip_146559	4.417736e-01	3.137155e-14
HCC	SRSF5	exon_skip_146559	5.075773e-01	5.904587e-19
HCC	HNRNPF	exon_skip_146559	5.722643e-01	1.029115e-24
HCC	RBM5	exon_skip_100385	4.402828e-01	1.305692e-13
HCC	UNK	exon_skip_100385	4.691146e-01	1.812875e-15
HCC	SRSF5	exon_skip_100385	4.203695e-01	1.995336e-12
HCC	HNRNPF	exon_skip_100385	4.942757e-01	3.076982e-17
HCC	RBM5	exon_skip_50426	4.986431e-01	4.667963e-17
HCC	HNRNPF	exon_skip_50426	5.020561e-01	2.641755e-17
IFG	SRSF11	exon_skip_50426	4.502286e-01	4.055546e-02
IFG	RBM5	exon_skip_50426	4.456742e-01	4.288499e-02
IFG	TRA2A	exon_skip_50426	4.619397e-01	3.501602e-02
IFG	SRSF5	exon_skip_50426	4.599879e-01	3.589554e-02
IFG	ESRP2	exon_skip_50426	6.679714e-01	9.357422e-04
PCC	G3BP2	exon_skip_195618	4.234727e-01	3.073744e-10
TC	NUP42	exon_skip_100385	-4.032276e-01	1.031853e-06

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RelatedDrugs for ATP2B2

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 ATP2B2

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 ATP2B2

Gene structures and expression levels for ATP2B2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATP2B2

Open reading frame (ORF) annotation in the exon skipping event for ATP2B2

Infer the effects of exon skipping event on protein functional features for ATP2B2

3'-UTR located exon skipping events that lost miRNA binding sites in ATP2B2

SNVs in the skipped exons for ATP2B2

AD stage-associated exon skippint events for ATP2B2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP2B2

Correlation with RNA binding proteins (RBPs) for ATP2B2

RelatedDrugs for ATP2B2

RelatedDiseases for ATP2B2