ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CADPS

Gene summary

Gene information	Gene symbol	CADPS
	Gene ID	8618
	Gene name	calcium dependent secretion activator
	Synonyms	CADPS1\|CAPS\|CAPS1\|UNC-31
	Cytomap	3p14.2
	Type of gene	protein-coding
	Description	calcium-dependent secretion activator 1CAPS-1Ca++-dependent secretion activatorCa2+ dependent secretion activatorCa2+-dependent activator protein for secretionCa2+-regulated cytoskeletal proteincalcium-dependent activator protein for secretion 1
	Modification date	20200313
	UniProtAcc	A0A0C4DGY2, A2RRN7, F1T0E5, H0YFP0, H7C4K9, H7C4P2, H7C4T6, H7C538, Q9ULU8,
	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 CADPS

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.

ENSG00000163618

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
PG	DOWN	ENST00000383710.9	CADPS-203:protein_coding:CADPS	5.899222e+02	-8.762143e-01	8.229546e-07	7.600702e-05
PG	DOWN	ENST00000478434.4	CADPS-212:lncRNA:CADPS	5.009572e+00	-9.141362e-01	3.888782e-03	3.834164e-02
CB	UP	ENST00000357948.7	CADPS-202:protein_coding:CADPS	2.522663e+02	1.003081e+00	8.617457e-08	1.870521e-06
CB	UP	ENST00000283269.13	CADPS-201:protein_coding:CADPS	6.161568e+02	1.011229e+00	8.247706e-06	8.980509e-05

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 CADPS

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_101872	chr3	62478261:62478416:62481723:62481869:62491339:62491480	62481723:62481869
exon_skip_120680	chr3	62536496:62536581:62544848:62544859:62549903:62549935	62544848:62544859
exon_skip_126331	chr3	62516114:62516182:62516580:62516643:62518149:62518250	62516580:62516643
exon_skip_129577	chr3	62492290:62492446:62498146:62498154:62499162:62499259	62498146:62498154
exon_skip_145767	chr3	62557405:62557513:62570872:62570938:62585185:62585246	62570872:62570938
exon_skip_147162	chr3	62403094:62403185:62438104:62438211:62445765:62445797	62438104:62438211
exon_skip_147895	chr3	62492290:62492446:62499162:62499268:62516059:62516182	62499162:62499268
exon_skip_151158	chr3	62492290:62492446:62498146:62498154:62499162:62499268	62498146:62498154
exon_skip_154539	chr3	62492290:62492446:62493645:62493665:62499162:62499268	62493645:62493665
exon_skip_166599	chr3	62518149:62518250:62530654:62530812:62532871:62533058	62530654:62530812
exon_skip_173721	chr3	62492290:62492446:62498146:62498154:62499162:62499267	62498146:62498154
exon_skip_17722	chr3	62662314:62662394:62753441:62753773:62765871:62765984	62753441:62753773
exon_skip_187549	chr3	62438140:62438211:62445765:62445797:62465367:62465450	62445765:62445797
exon_skip_198824	chr3	62465367:62465450:62466339:62466413:62474173:62474320	62466339:62466413
exon_skip_207232	chr3	62536496:62536581:62544848:62544859:62549903:62550114	62544848:62544859
exon_skip_240374	chr3	62398972:62399585:62403081:62403185:62438104:62438211	62403081:62403185
exon_skip_252339	chr3	62492290:62492446:62493645:62493665:62499162:62499259	62493645:62493665
exon_skip_257649	chr3	62499162:62499268:62513638:62513706:62516059:62516182	62513638:62513706
exon_skip_271375	chr3	62438104:62438211:62445765:62445797:62465367:62465450	62445765:62445797
exon_skip_272012	chr3	62499162:62499268:62512751:62512768:62516059:62516182	62512751:62512768
exon_skip_275347	chr3	62536496:62536581:62549903:62550115:62557405:62557513	62549903:62550115
exon_skip_53772	chr3	62466339:62466413:62474173:62474320:62478261:62478316	62474173:62474320
exon_skip_57263	chr3	62533022:62533058:62536445:62536581:62549903:62550114	62536445:62536581
exon_skip_66808	chr3	62532871:62533058:62536496:62536581:62549903:62550114	62536496:62536581
exon_skip_9117	chr3	62492290:62492446:62493645:62493665:62499162:62499267	62493645:62493665
exon_skip_99637	chr3	62466339:62466413:62467298:62467312:62474173:62474320	62467298:62467312

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_101872	Mayo_CB	3.171951e-01	4.405263e-01	-1.233312e-01	9.498183e-06
exon_skip_237990	Mayo_CB	5.926667e-01	7.774074e-01	-1.847407e-01	3.369864e-08

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

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
ENST00000383710	62474173	62474320	Frame-shift
ENST00000383710	62438104	62438211	In-frame
ENST00000383710	62445765	62445797	In-frame
ENST00000383710	62466339	62466413	In-frame
ENST00000383710	62481723	62481869	In-frame
ENST00000383710	62493645	62493665	In-frame
ENST00000383710	62512751	62512768	In-frame
ENST00000383710	62549903	62550115	In-frame
ENST00000383710	62753441	62753773	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
ENST00000383710	62474173	62474320	Frame-shift
ENST00000383710	62403081	62403185	In-frame
ENST00000383710	62438104	62438211	In-frame
ENST00000383710	62445765	62445797	In-frame
ENST00000383710	62466339	62466413	In-frame
ENST00000383710	62481723	62481869	In-frame
ENST00000383710	62493645	62493665	In-frame
ENST00000383710	62512751	62512768	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
ENST00000383710	62474173	62474320	Frame-shift
ENST00000383710	62516580	62516643	Frame-shift
ENST00000383710	62536445	62536581	Frame-shift
ENST00000383710	62570872	62570938	Frame-shift
ENST00000383710	62438104	62438211	In-frame
ENST00000383710	62445765	62445797	In-frame
ENST00000383710	62466339	62466413	In-frame
ENST00000383710	62481723	62481869	In-frame
ENST00000383710	62493645	62493665	In-frame
ENST00000383710	62512751	62512768	In-frame

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

p-ENSG00000163618_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
ENST00000383710	5488	1353	62753441	62753773	906	1237	185	295
ENST00000383710	5488	1353	62549903	62550115	2104	2315	584	655
ENST00000383710	5488	1353	62481723	62481869	3377	3522	1009	1057
ENST00000383710	5488	1353	62466339	62466413	3828	3901	1159	1183
ENST00000383710	5488	1353	62445765	62445797	3987	4018	1212	1222
ENST00000383710	5488	1353	62438104	62438211	4020	4126	1223	1258

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
ENST00000383710	5488	1353	62481723	62481869	3377	3522	1009	1057
ENST00000383710	5488	1353	62466339	62466413	3828	3901	1159	1183
ENST00000383710	5488	1353	62445765	62445797	3987	4018	1212	1222
ENST00000383710	5488	1353	62438104	62438211	4020	4126	1223	1258
ENST00000383710	5488	1353	62403081	62403185	4128	4231	1259	1293

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
ENST00000383710	5488	1353	62481723	62481869	3377	3522	1009	1057
ENST00000383710	5488	1353	62466339	62466413	3828	3901	1159	1183
ENST00000383710	5488	1353	62445765	62445797	3987	4018	1212	1222
ENST00000383710	5488	1353	62438104	62438211	4020	4126	1223	1258

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
Q9ULU8	185	295	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	185	295	261	261	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62717
Q9ULU8	584	655	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	584	655	590	596	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WI1
Q9ULU8	584	655	601	605	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WI1
Q9ULU8	584	655	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	584	655	521	624	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q9ULU8	584	655	609	623	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1WI1
Q9ULU8	1009	1057	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1009	1057	1009	1058	Alternative sequence	ID=VSP_016807;Note=In isoform 2 and isoform 3. KSLTSNLPNVNLPNVNLPKVPNLPVNIPLGIPQMPTFSAPSWMAAIYDAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12659812,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12659812,PMID:17974005
Q9ULU8	1009	1057	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1009	1057	931	1111	Domain	Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00587
Q9ULU8	1009	1057	790	1129	Region	Note=Interaction with DRD2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15857609;Dbxref=PMID:15857609
Q9ULU8	1159	1183	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1159	1183	1159	1159	Alternative sequence	ID=VSP_016808;Note=In isoform 4. E->EFAKMW;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9289490;Dbxref=PMID:15489334,PMID:9289490
Q9ULU8	1159	1183	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1159	1183	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1212	1222	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1212	1222	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1212	1222	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1223	1258	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1223	1258	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	1230	1230	Sequence conflict	Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1237	1237	Sequence conflict	Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q9ULU8	1009	1057	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1009	1057	1009	1058	Alternative sequence	ID=VSP_016807;Note=In isoform 2 and isoform 3. KSLTSNLPNVNLPNVNLPKVPNLPVNIPLGIPQMPTFSAPSWMAAIYDAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12659812,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12659812,PMID:17974005
Q9ULU8	1009	1057	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1009	1057	931	1111	Domain	Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00587
Q9ULU8	1009	1057	790	1129	Region	Note=Interaction with DRD2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15857609;Dbxref=PMID:15857609
Q9ULU8	1159	1183	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1159	1183	1159	1159	Alternative sequence	ID=VSP_016808;Note=In isoform 4. E->EFAKMW;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9289490;Dbxref=PMID:15489334,PMID:9289490
Q9ULU8	1159	1183	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1159	1183	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1212	1222	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1212	1222	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1212	1222	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1223	1258	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1223	1258	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	1230	1230	Sequence conflict	Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1237	1237	Sequence conflict	Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1259	1293	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1259	1293	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1259	1293	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1259	1293	1292	1292	Sequence conflict	Note=M->V;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
Q9ULU8	1009	1057	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1009	1057	1009	1058	Alternative sequence	ID=VSP_016807;Note=In isoform 2 and isoform 3. KSLTSNLPNVNLPNVNLPKVPNLPVNIPLGIPQMPTFSAPSWMAAIYDAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12659812,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12659812,PMID:17974005
Q9ULU8	1009	1057	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1009	1057	931	1111	Domain	Note=MHD1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00587
Q9ULU8	1009	1057	790	1129	Region	Note=Interaction with DRD2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15857609;Dbxref=PMID:15857609
Q9ULU8	1159	1183	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1159	1183	1159	1159	Alternative sequence	ID=VSP_016808;Note=In isoform 4. E->EFAKMW;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9289490;Dbxref=PMID:15489334,PMID:9289490
Q9ULU8	1159	1183	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1159	1183	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1212	1222	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1212	1222	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1212	1222	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	458	1353	Alternative sequence	ID=VSP_016802;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q9ULU8	1223	1258	1	1353	Chain	ID=PRO_0000053864;Note=Calcium-dependent secretion activator 1
Q9ULU8	1223	1258	1177	1353	Region	Note=Mediates targeting and association with DCVs;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9ULU8	1223	1258	1230	1230	Sequence conflict	Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1237	1237	Sequence conflict	Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9ULU8	1223	1258	1250	1250	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 CADPS

- 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 CADPS

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 CADPS

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_154539	rs2600854	chr3:62557761	2.665988e-04	1.955796e-02

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Correlation with RNA binding proteins (RBPs) for CADPS

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM6	exon_skip_101872	-5.343667e-01	4.787676e-13
CB	TIA1	exon_skip_101872	5.334674e-01	5.325106e-13
CB	HNRNPK	exon_skip_101872	4.073510e-01	1.085027e-07
CB	PCBP4	exon_skip_101872	5.069275e-01	1.072413e-11
CB	FUBP3	exon_skip_101872	4.900618e-01	6.344966e-11
CB	HNRNPD	exon_skip_101872	5.016473e-01	1.890735e-11
CB	SRSF9	exon_skip_101872	4.016841e-01	1.685823e-07
CB	KHDRBS2	exon_skip_252339	6.865504e-01	8.535311e-23
CB	NUP42	exon_skip_252339	4.641846e-01	1.331437e-09
CB	SRSF9	exon_skip_252339	4.877414e-01	1.402070e-10
CB	TRA2A	exon_skip_237990	-5.835855e-01	3.925670e-13
CB	NUP42	exon_skip_237990	6.146791e-01	9.297458e-15
CB	PABPC1	exon_skip_237990	4.444977e-01	1.312613e-07
CB	TRA2A	exon_skip_272012	-5.689526e-01	5.549293e-14
CB	NUP42	exon_skip_272012	6.190648e-01	6.419497e-17
CB	PABPC1	exon_skip_272012	4.051215e-01	3.583348e-07
DLPFC	RC3H1	exon_skip_101872	4.963519e-01	8.365297e-22
FL	RBM6	exon_skip_101872	-4.059943e-01	5.143069e-09
FL	TIA1	exon_skip_101872	-6.663107e-01	5.246421e-26
FL	MBNL1	exon_skip_101872	-5.251186e-01	5.313921e-15
FL	TRNAU1AP	exon_skip_101872	-5.908213e-01	1.871466e-19
FL	HNRNPK	exon_skip_101872	-4.057773e-01	5.249801e-09
FL	PCBP2	exon_skip_101872	-5.057313e-01	7.315176e-14
FL	RC3H1	exon_skip_101872	-4.834301e-01	1.225087e-12
FL	RALYL	exon_skip_101872	-5.141294e-01	2.397615e-14
FL	EIF4G2	exon_skip_101872	-4.818933e-01	1.476698e-12
FL	SRSF9	exon_skip_101872	-6.420853e-01	1.054105e-23
FL	RBM41	exon_skip_101872	-5.893690e-01	2.408354e-19
HCC	RBMS2	exon_skip_101872	-4.342753e-01	1.599982e-13
HCC	PTBP1	exon_skip_101872	-4.483473e-01	2.072654e-14
HCC	HNRNPF	exon_skip_151158	-5.123005e-01	8.444535e-19
IFG	RBM5	exon_skip_154539	-4.047688e-01	3.263184e-02
IFG	ESRP1	exon_skip_151158	4.044842e-01	3.276602e-02
IFG	RBM47	exon_skip_237990	-5.605577e-01	2.355764e-03
IFG	SRSF11	exon_skip_257649	4.648928e-01	2.925759e-02
IFG	SRSF9	exon_skip_257649	4.234186e-01	4.957888e-02
IFG	RBM5	exon_skip_207232	-4.658418e-01	1.432813e-02
STG	RBM6	exon_skip_101872	-4.422602e-01	3.568817e-05
TC	RBMS2	exon_skip_101872	-4.102735e-01	1.146556e-07
TC	RBM6	exon_skip_101872	-4.030166e-01	2.002441e-07
TC	HNRNPD	exon_skip_101872	4.265412e-01	3.128178e-08
TC	RALYL	exon_skip_101872	5.052842e-01	2.011682e-11
TC	PTBP1	exon_skip_101872	-4.279857e-01	2.778073e-08
TC	KHDRBS2	exon_skip_9117	4.327037e-01	1.156523e-07
TC	NUP42	exon_skip_9117	4.798369e-01	2.602260e-09
TC	PTBP1	exon_skip_207232	-4.240769e-01	4.037877e-07

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RelatedDrugs for CADPS

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q9ULU8	approved\|investigational	DB11093	Calcium Citrate	small molecule	Q9ULU8
Q9ULU8	approved	DB11348	Calcium Phosphate	small molecule	Q9ULU8

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RelatedDiseases for CADPS

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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