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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for CADPS2

check button Gene summary
Gene informationGene symbol

CADPS2

Gene ID

93664

Gene namecalcium dependent secretion activator 2
SynonymsCAPS2
Cytomap

7q31.32

Type of geneprotein-coding
Descriptioncalcium-dependent secretion activator 2CAPS-2Ca++-dependent secretion activator 2Ca2+ dependent secretion activator 2Ca2+-dependent activator protein for secretion 2calcium-dependent activator protein for secretion 2
Modification date20180519
UniProtAcc

Q86UW7

ContextPubMed: CADPS2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for CADPS2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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.
all structure

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Gene isoform structures and expression levels for CADPS2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for CADPS2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4792727121960090:121960392:121965530:121965635:121985627:121985735121965530:121965635ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000462699.1,ENST00000334010.7,ENST00000449022.2
exon_skip_4792737121965530:121965635:121985627:121985735:122000841:122000874121985627:121985735ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000462699.1,ENST00000334010.7,ENST00000449022.2
exon_skip_4792747121985627:121985735:122000841:122000874:122000983:122001067122000841:122000874ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000462699.1,ENST00000334010.7,ENST00000449022.2
exon_skip_4792787122000983:122001067:122019421:122019496:122026348:122026363122019421:122019496ENSG00000081803.11ENST00000412584.2
exon_skip_4792797122000983:122001067:122019421:122019496:122027079:122027227122019421:122019496ENSG00000081803.11ENST00000397721.4,ENST00000462699.1,ENST00000334010.7,ENST00000449022.2
exon_skip_4792827122019421:122019496:122026348:122026363:122027079:122027227122026348:122026363ENSG00000081803.11ENST00000412584.2
exon_skip_4792837122028636:122028792:122033249:122033369:122033494:122033636122033249:122033369ENSG00000081803.11ENST00000462699.1,ENST00000334010.7,ENST00000449022.2
exon_skip_4792847122028636:122028792:122033494:122033636:122047593:122047750122033494:122033636ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7
exon_skip_4792857122047593:122047750:122054121:122054130:122056114:122056218122054121:122054130ENSG00000081803.11ENST00000462699.1,ENST00000449022.2
exon_skip_4792867122056114:122056218:122076413:122076434:122078394:122078430122076413:122076434ENSG00000081803.11ENST00000462699.1
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2
exon_skip_4792887122081565:122081629:122091427:122091529:122111428:122111616122091427:122091529ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2
exon_skip_4792907122114434:122114571:122120905:122120914:122130134:122130335122120905:122120914ENSG00000081803.11ENST00000449022.2
exon_skip_4792937122194603:122194743:122221232:122221344:122255234:122255353122221232:122221344ENSG00000081803.11ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2
exon_skip_4792967122255234:122255353:122261534:122261771:122269301:122269382122261534:122261771ENSG00000081803.11ENST00000412584.2,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2
exon_skip_4792977122261534:122261771:122269301:122269382:122303290:122303623122269301:122269382ENSG00000081803.11ENST00000412584.2,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for CADPS2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4792727121960090:121960392:121965530:121965635:121985627:121985735121965530:121965635ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000462699.1,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792737121965530:121965635:121985627:121985735:122000841:122000874121985627:121985735ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000462699.1,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792747121985627:121985735:122000841:122000874:122000983:122001067122000841:122000874ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000462699.1,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792787122000983:122001067:122019421:122019496:122026348:122026363122019421:122019496ENSG00000081803.11ENST00000412584.2
exon_skip_4792797122000983:122001067:122019421:122019496:122027079:122027227122019421:122019496ENSG00000081803.11ENST00000334010.7,ENST00000462699.1,ENST00000449022.2,ENST00000397721.4
exon_skip_4792827122019421:122019496:122026348:122026363:122027079:122027227122026348:122026363ENSG00000081803.11ENST00000412584.2
exon_skip_4792837122028636:122028792:122033249:122033369:122033494:122033636122033249:122033369ENSG00000081803.11ENST00000334010.7,ENST00000462699.1,ENST00000449022.2
exon_skip_4792847122028636:122028792:122033494:122033636:122047593:122047750122033494:122033636ENSG00000081803.11ENST00000313070.7,ENST00000412584.2,ENST00000397721.4
exon_skip_4792857122047593:122047750:122054121:122054130:122056114:122056218122054121:122054130ENSG00000081803.11ENST00000462699.1,ENST00000449022.2
exon_skip_4792867122056114:122056218:122076413:122076434:122078394:122078430122076413:122076434ENSG00000081803.11ENST00000462699.1
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792887122081565:122081629:122091427:122091529:122111428:122111616122091427:122091529ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792907122114434:122114571:122120905:122120914:122130134:122130335122120905:122120914ENSG00000081803.11ENST00000449022.2
exon_skip_4792937122194603:122194743:122221232:122221344:122255234:122255353122221232:122221344ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000412584.2,ENST00000449022.2,ENST00000397721.4
exon_skip_4792967122255234:122255353:122261534:122261771:122269301:122269382122261534:122261771ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000412584.2,ENST00000449022.2
exon_skip_4792977122261534:122261771:122269301:122269382:122303290:122303623122269301:122269382ENSG00000081803.11ENST00000334010.7,ENST00000313070.7,ENST00000412584.2,ENST00000449022.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for CADPS2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000449022122078394122078518Frame-shift
ENST00000449022122221232122221344Frame-shift
ENST00000449022121965530121965635In-frame
ENST00000449022121985627121985735In-frame
ENST00000449022122000841122000874In-frame
ENST00000449022122019421122019496In-frame
ENST00000449022122033249122033369In-frame
ENST00000449022122054121122054130In-frame
ENST00000449022122091427122091529In-frame
ENST00000449022122120905122120914In-frame
ENST00000449022122261534122261771In-frame
ENST00000449022122269301122269382In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000449022122078394122078518Frame-shift
ENST00000449022122221232122221344Frame-shift
ENST00000449022121965530121965635In-frame
ENST00000449022121985627121985735In-frame
ENST00000449022122000841122000874In-frame
ENST00000449022122019421122019496In-frame
ENST00000449022122033249122033369In-frame
ENST00000449022122054121122054130In-frame
ENST00000449022122091427122091529In-frame
ENST00000449022122120905122120914In-frame
ENST00000449022122261534122261771In-frame
ENST00000449022122269301122269382In-frame

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Infer the effects of exon skipping event on protein functional features for CADPS2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000044902240901296122269301122269382807887262289
ENST00000449022409012961222615341222617718881124289368
ENST000004490224090129612209142712209152922072308729762
ENST0000044902240901296122033249122033369290930289631002
ENST00000449022409012961220194211220194963333340711041129
ENST00000449022409012961220008411220008743492352411571168
ENST00000449022409012961219856271219857353525363211681204
ENST00000449022409012961219655301219656353633373712041239

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000044902240901296122269301122269382807887262289
ENST00000449022409012961222615341222617718881124289368
ENST000004490224090129612209142712209152922072308729762
ENST0000044902240901296122033249122033369290930289631002
ENST00000449022409012961220194211220194963333340711041129
ENST00000449022409012961220008411220008743492352411571168
ENST00000449022409012961219856271219857353525363211681204
ENST00000449022409012961219655301219656353633373712041239

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for CADPS2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_479272
121965531121965635121965563121965563Frame_Shift_DelA-p.Y1227fs
LIHCTCGA-G3-A3CJ-01exon_skip_479273
121985628121985735121985638121985638Frame_Shift_DelT-p.K1199fs
COADTCGA-AA-3492-01exon_skip_479273
121985628121985735121985686121985686Frame_Shift_DelT-p.N1189fs
LIHCTCGA-DD-A3A0-01exon_skip_479274
122000842122000874122000869122000869Frame_Shift_DelT-p.K1157fs
LIHCTCGA-G3-A3CJ-01exon_skip_479282
122026349122026363122026361122026361Frame_Shift_DelA-p.F1059fs
LIHCTCGA-G3-A3CJ-01exon_skip_479284
122033495122033636122033608122033608Frame_Shift_DelT-p.K923fs
LIHCTCGA-G3-A3CJ-01exon_skip_479284
122033495122033636122033617122033617Frame_Shift_DelT-p.K920fs
ESCATCGA-R6-A6Y2-01exon_skip_479286
122076414122076434122076417122076417Frame_Shift_DelT-p.T832fs
LIHCTCGA-DD-A1EG-01exon_skip_479287
122078395122078518122078507122078507Frame_Shift_DelT-p.K789fs
LIHCTCGA-DD-A3A0-01exon_skip_479288
122091428122091529122091472122091472Frame_Shift_DelT-p.K749fs
LIHCTCGA-G3-A3CJ-01exon_skip_479293
122221233122221344122221309122221309Frame_Shift_DelG-p.P420fs
LIHCTCGA-DD-A39Y-01exon_skip_479296
122261535122261771122261566122261566Frame_Shift_DelT-p.K358fs
LIHCTCGA-DD-A3A0-01exon_skip_479297
122269302122269382122269310122269310Frame_Shift_DelT-p.M287fs
LIHCTCGA-BC-A112-01exon_skip_479288
122091428122091529122091430122091431Frame_Shift_Ins-Ap.*763fs
LIHCTCGA-BC-A112-01exon_skip_479288
122091428122091529122091451122091452Frame_Shift_Ins-Ap.*756fs
UCECTCGA-B5-A0JY-01exon_skip_479273
121985628121985735121985672121985672Nonsense_MutationGAp.R1190*
LUSCTCGA-66-2785-01exon_skip_479296
122261535122261771122261629122261629Nonsense_MutationACp.L337*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
CW2_LARGE_INTESTINE121985628121985735121985664121985665Frame_Shift_Ins-Tp.K1192fs
NCIH1299_LUNG121965531121965635121965587121965587Missense_MutationTCp.R1221G
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121985628121985735121985653121985653Missense_MutationTGp.E1196A
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121985628121985735121985664121985664Missense_MutationCAp.K1192N
NB13_AUTONOMIC_GANGLIA121985628121985735121985700121985700Missense_MutationCTp.M1180I
RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE121985628121985735121985701121985701Missense_MutationAGp.M1180T
CORL303_LUNG122000842122000874122000847122000847Missense_MutationCAp.V1167F
SISO_CERVIX122019422122019496122019424122019424Missense_MutationTCp.K1129E
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122019422122019496122019424122019424Missense_MutationTCp.K1129E
HEC251_ENDOMETRIUM122033250122033369122033259122033259Missense_MutationTCp.Y1000C
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122033250122033369122033274122033274Missense_MutationCAp.W995L
ES6_BONE122033250122033369122033308122033308Missense_MutationGTp.L984I
GAMG_CENTRAL_NERVOUS_SYSTEM122033250122033369122033362122033362Missense_MutationCAp.A966S
HCC2108_LUNG122033250122033369122033365122033365Missense_MutationTAp.I965F
MORCPR_LUNG122033250122033369122033365122033365Missense_MutationTAp.I965F
SARC9371_BONE122033495122033636122033565122033565Missense_MutationCTp.D940N
MM383_SKIN122078395122078518122078431122078431Missense_MutationTCp.N814D
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122078395122078518122078471122078471Missense_MutationCAp.K800N
HUCCT1_BILIARY_TRACT122078395122078518122078488122078488Missense_MutationGAp.P795S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122091428122091529122091485122091485Missense_MutationAGp.F744S
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122091428122091529122091498122091498Missense_MutationCTp.E740K
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122091428122091529122091516122091516Missense_MutationCAp.G734W
KYSE450_OESOPHAGUS122091428122091529122091516122091516Missense_MutationCAp.G734W
NCIH2106_LUNG122221233122221344122221258122221258Missense_MutationGCp.A437G
NB14_AUTONOMIC_GANGLIA122221233122221344122221282122221282Missense_MutationACp.F429C
SAS_UPPER_AERODIGESTIVE_TRACT122221233122221344122221307122221307Missense_MutationGAp.R421W
LOVO_LARGE_INTESTINE122261535122261771122261558122261558Missense_MutationCTp.V361M
CPCN_LUNG122261535122261771122261585122261585Missense_MutationTGp.N352H
NCIH1836_LUNG122261535122261771122261598122261598Missense_MutationGTp.D347E
DMS273_LUNG122261535122261771122261666122261666Missense_MutationCTp.V325I
DOV13_OVARY122261535122261771122261669122261669Missense_MutationGAp.P324S
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122261535122261771122261707122261707Missense_MutationGAp.S311F
OVCA433_OVARY122261535122261771122261716122261716Missense_MutationTAp.E308V
JHUEM7_ENDOMETRIUM122261535122261771122261731122261731Missense_MutationTGp.N303T
HT115_LARGE_INTESTINE122261535122261771122261767122261767Missense_MutationCAp.R291I
CP66MEL_SKIN122269302122269382122269336122269336Missense_MutationTCp.D278G
NCIH1836_LUNG122269302122269382122269378122269378Missense_MutationTCp.D264G
COLO792_SKIN121965531121965635121965597121965597Nonsense_MutationCTp.W1217*
LCLC103H_LUNG122261535122261771122261678122261678Nonsense_MutationCAp.E321*
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE122269302122269382122269355122269355Nonsense_MutationGAp.Q272*
EFM19_BREAST122000842122000874122000843122000843Splice_SiteGAp.P1168L
HEC50B_ENDOMETRIUM122261535122261771122261770122261770Splice_SiteTCp.E290G
PK45H_PANCREAS122269302122269382122269382122269382Splice_SiteGTp.L263M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CADPS2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2BRCArs2074589chr7:122078414A/C5.08e-12
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2KIRCrs2074589chr7:122078414A/C2.03e-03
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2LUADrs2074589chr7:122078414A/C1.53e-08
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2PRADrs2074589chr7:122078414A/C1.18e-11
exon_skip_4792877122056114:122056218:122078394:122078518:122081565:122081629122078394:122078518ENST00000412584.2,ENST00000397721.4,ENST00000313070.7,ENST00000334010.7,ENST00000449022.2THCArs2074589chr7:122078414A/C5.35e-07

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CADPS2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CADPS2


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RelatedDrugs for CADPS2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q86UW7DB11348Calcium PhosphateCalcium-dependent secretion activator 2small moleculeapproved
Q86UW7DB11093Calcium CitrateCalcium-dependent secretion activator 2small moleculeapproved|investigational

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RelatedDiseases for CADPS2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CADPS2C0004352Autistic Disorder1CTD_human
CADPS2C0008370Cholestasis1CTD_human
CADPS2C0036341Schizophrenia1PSYGENET
CADPS2C0236969Substance-Related Disorders1CTD_human
CADPS2C4277682Chemical and Drug Induced Liver Injury1CTD_human