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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 ARPP21

check button Gene summary
Gene informationGene symbol

ARPP21

Gene ID

10777

Gene namecAMP regulated phosphoprotein 21
SynonymsARPP-21|R3HDM3|RCS|TARPP
Cytomap

3p22.3

Type of geneprotein-coding
DescriptioncAMP-regulated phosphoprotein 21R3H domain containing 3cAMP regulated phosphoprotein 21kDacyclic AMP-regulated phosphoprotein, 21 kDthymocyte cAMP-regulated phosphoprotein
Modification date20180519
UniProtAcc

Q9UBL0

ContextPubMed: ARPP21 [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 ARPP21 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 ARPP21

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 ARPP21

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_372561335721278:35721452:35722317:35722409:35723205:3572333935722317:35722409ENSG00000172995.12ENST00000421492.1,ENST00000432682.1
exon_skip_372562335725217:35725307:35729230:35729375:35730798:3573087735729230:35729375ENSG00000172995.12ENST00000417925.1,ENST00000337271.5,ENST00000444190.1,ENST00000458225.1,ENST00000187397.4
exon_skip_372563335732416:35732497:35748465:35748574:35750460:3575056235748465:35748574ENSG00000172995.12ENST00000187397.4
exon_skip_372564335732416:35732497:35748465:35748574:35756930:3575696835748465:35748574ENSG00000172995.12ENST00000417925.1,ENST00000337271.5,ENST00000444190.1,ENST00000458225.1
exon_skip_372569335732416:35732497:35756930:35756968:35763096:3576312335756930:35756968ENSG00000172995.12ENST00000427590.1
exon_skip_372573335748465:35748574:35748942:35749033:35750460:3575056235748942:35749033ENSG00000172995.12ENST00000446068.2
exon_skip_372576335748465:35748574:35750460:35750562:35756930:3575696835750460:35750562ENSG00000172995.12ENST00000187397.4
exon_skip_372577335748942:35749033:35750460:35750562:35756930:3575696835750460:35750562ENSG00000172995.12ENST00000446068.2
exon_skip_372578335756934:35756968:35758789:35758849:35763096:3576312335758789:35758849ENSG00000172995.12ENST00000417925.1,ENST00000458225.1,ENST00000187397.4,ENST00000446068.2,ENST00000481854.1
exon_skip_372579335756934:35756968:35758789:35758853:35763096:3576312335758789:35758853ENSG00000172995.12ENST00000425289.1
exon_skip_372581335758792:35758849:35763096:35763326:35770794:3577082835763096:35763326ENSG00000172995.12ENST00000417925.1,ENST00000458225.1,ENST00000187397.4,ENST00000481854.1
exon_skip_372583335770794:35771028:35778669:35778854:35780808:3578106935778669:35778854ENSG00000172995.12ENST00000187397.4
exon_skip_372585335778674:35778854:35779705:35779810:35780808:3578106935779705:35779810ENSG00000172995.12ENST00000417925.1,ENST00000457165.1,ENST00000337271.5,ENST00000444190.1,ENST00000458225.1

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

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Exon skipping events with PSIs in GTEx for ARPP21

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_372561335721278:35721452:35722317:35722409:35723205:3572333935722317:35722409ENSG00000172995.12ENST00000421492.1,ENST00000432682.1
exon_skip_372562335725217:35725307:35729230:35729375:35730798:3573087735729230:35729375ENSG00000172995.12ENST00000458225.1,ENST00000337271.5,ENST00000444190.1,ENST00000187397.4,ENST00000417925.1
exon_skip_372563335732416:35732497:35748465:35748574:35750460:3575056235748465:35748574ENSG00000172995.12ENST00000187397.4
exon_skip_372564335732416:35732497:35748465:35748574:35756930:3575696835748465:35748574ENSG00000172995.12ENST00000458225.1,ENST00000337271.5,ENST00000444190.1,ENST00000417925.1
exon_skip_372569335732416:35732497:35756930:35756968:35763096:3576312335756930:35756968ENSG00000172995.12ENST00000427590.1
exon_skip_372573335748465:35748574:35748942:35749033:35750460:3575056235748942:35749033ENSG00000172995.12ENST00000446068.2
exon_skip_372576335748465:35748574:35750460:35750562:35756930:3575696835750460:35750562ENSG00000172995.12ENST00000187397.4
exon_skip_372577335748942:35749033:35750460:35750562:35756930:3575696835750460:35750562ENSG00000172995.12ENST00000446068.2
exon_skip_372578335756934:35756968:35758789:35758849:35763096:3576312335758789:35758849ENSG00000172995.12ENST00000458225.1,ENST00000187397.4,ENST00000417925.1,ENST00000446068.2,ENST00000481854.1
exon_skip_372579335756934:35756968:35758789:35758853:35763096:3576312335758789:35758853ENSG00000172995.12ENST00000425289.1
exon_skip_372581335758792:35758849:35763096:35763326:35770794:3577082835763096:35763326ENSG00000172995.12ENST00000458225.1,ENST00000187397.4,ENST00000417925.1,ENST00000481854.1
exon_skip_372583335770794:35771028:35778669:35778854:35780808:3578106935778669:35778854ENSG00000172995.12ENST00000187397.4
exon_skip_372585335778674:35778854:35779705:35779810:35780808:3578106935779705:35779810ENSG00000172995.12ENST00000458225.1,ENST00000337271.5,ENST00000444190.1,ENST00000417925.1,ENST00000457165.1

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 ARPP21

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
ENST000001873973572923035729375Frame-shift
ENST000001873973574846535748574Frame-shift
ENST000001873973576309635763326Frame-shift
ENST000001873973577866935778854Frame-shift
ENST000001873973575046035750562In-frame
ENST000001873973575878935758849In-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
ENST000001873973572923035729375Frame-shift
ENST000001873973574846535748574Frame-shift
ENST000001873973576309635763326Frame-shift
ENST000001873973577866935778854Frame-shift
ENST000001873973575046035750562In-frame
ENST000001873973575878935758849In-frame

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Infer the effects of exon skipping event on protein functional features for ARPP21

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
ENST000001873973450812357504603575056212521353265299
ENST000001873973450812357587893575884913921451312331

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
ENST000001873973450812357504603575056212521353265299
ENST000001873973450812357587893575884913921451312331

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
Q9UBL02652991512Alternative sequenceID=VSP_029469;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL026529990812Alternative sequenceID=VSP_029472;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8120638;Dbxref=PMID:10931946,PMID:15489334,PMID:8120638
Q9UBL0265299109812Alternative sequenceID=VSP_029473;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL0265299266299Alternative sequenceID=VSP_029474;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005
Q9UBL02652992812ChainID=PRO_0000064682;Note=cAMP-regulated phosphoprotein 21
Q9UBL0265299228300DomainNote=SUZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01009
Q9UBL03123311512Alternative sequenceID=VSP_029469;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL031233190812Alternative sequenceID=VSP_029472;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8120638;Dbxref=PMID:10931946,PMID:15489334,PMID:8120638
Q9UBL0312331109812Alternative sequenceID=VSP_029473;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL0312331312331Alternative sequenceID=VSP_029475;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL03123312812ChainID=PRO_0000064682;Note=cAMP-regulated phosphoprotein 21
Q9UBL0312331312312Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q9UBL02652991512Alternative sequenceID=VSP_029469;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL026529990812Alternative sequenceID=VSP_029472;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8120638;Dbxref=PMID:10931946,PMID:15489334,PMID:8120638
Q9UBL0265299109812Alternative sequenceID=VSP_029473;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL0265299266299Alternative sequenceID=VSP_029474;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005
Q9UBL02652992812ChainID=PRO_0000064682;Note=cAMP-regulated phosphoprotein 21
Q9UBL0265299228300DomainNote=SUZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01009
Q9UBL03123311512Alternative sequenceID=VSP_029469;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL031233190812Alternative sequenceID=VSP_029472;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10931946,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:8120638;Dbxref=PMID:10931946,PMID:15489334,PMID:8120638
Q9UBL0312331109812Alternative sequenceID=VSP_029473;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL0312331312331Alternative sequenceID=VSP_029475;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9UBL03123312812ChainID=PRO_0000064682;Note=cAMP-regulated phosphoprotein 21
Q9UBL0312331312312Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for ARPP21

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-G3-A3CJ-01exon_skip_372562
35729231357293753572925735729257Frame_Shift_DelT-p.S96fs
LUADTCGA-78-7536-01exon_skip_372562
35729231357293753572927035729270Frame_Shift_DelC-p.Q101fs
LIHCTCGA-DD-A3A0-01exon_skip_372562
35729231357293753572934635729346Frame_Shift_DelA-p.E126fs
LIHCTCGA-DD-A1EG-01exon_skip_372562
35729231357293753572937135729371Frame_Shift_DelA-p.S134fs
STADTCGA-BR-4362-01exon_skip_372564
exon_skip_372563
35748466357485743574850135748501Frame_Shift_DelA-p.E241fs
LUADTCGA-05-4398-01exon_skip_372577
exon_skip_372576
35750461357505623575046135750461Frame_Shift_DelC-p.Q266fs
LIHCTCGA-BC-A3KG-01exon_skip_372569
35756931357569683575695335756953Frame_Shift_DelT-p.L307fs
LIHCTCGA-DD-A39Y-01exon_skip_372581
35763097357633263576322735763227Frame_Shift_DelC-p.P376fs
ESCATCGA-RE-A7BO-01exon_skip_372562
35729231357293753572930935729309Nonsense_MutationGTp.E114X
BLCATCGA-DK-AA74-01exon_skip_372562
35729231357293753572937035729370Nonsense_MutationCGp.S134*
PAADTCGA-IB-7651-01exon_skip_372564
exon_skip_372563
35748466357485743574853935748539Nonsense_MutationCTp.R254*
COADTCGA-AZ-4315-01exon_skip_372564
exon_skip_372563
35748466357485743574856335748563Nonsense_MutationGTp.E262X
STADTCGA-BR-8680-01exon_skip_372564
exon_skip_372563
35748466357485743574856335748563Nonsense_MutationGTp.E262*
STADTCGA-BR-8680-01exon_skip_372564
exon_skip_372563
35748466357485743574856335748563Nonsense_MutationGTp.E262X
STADTCGA-CG-4441-01exon_skip_372578
35758790357588493575883935758839Nonsense_MutationCTp.Q329X
STADTCGA-CG-4441-01exon_skip_372579
35758790357588533575883935758839Nonsense_MutationCTp.Q329X
KIRCTCGA-B0-5083-01exon_skip_372581
35763097357633263576313435763134Nonsense_MutationCTp.R345*
SKCMTCGA-D3-A5GL-06exon_skip_372581
35763097357633263576313435763134Nonsense_MutationCTp.R345*
CESCTCGA-LP-A7HU-01exon_skip_372583
35778670357788543577872635778726Nonsense_MutationCTp.Q472*
LUSCTCGA-66-2773-01exon_skip_372583
35778670357788543577873835778738Nonsense_MutationCTp.R476*
SKCMTCGA-FW-A3R5-06exon_skip_372581
35763097357633263576309635763096Splice_SiteGA.
LUSCTCGA-22-5472-01exon_skip_372581
35763097357633263576332735763327Splice_SiteGTp.G375_splice

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
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35778670357788543577881235778812Frame_Shift_DelC-p.V534fs
HEC108_ENDOMETRIUM35729231357293753572927435729274Missense_MutationAGp.E102G
UMUC1_URINARY_TRACT35729231357293753572931535729315Missense_MutationGCp.E116Q
BICR18_UPPER_AERODIGESTIVE_TRACT35748466357485743574850635748506Missense_MutationGAp.G243S
SNUC2B_LARGE_INTESTINE35748466357485743574850635748506Missense_MutationGAp.G243S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35748466357485743574850635748506Missense_MutationGAp.G243S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35748466357485743574850635748506Missense_MutationGAp.G243S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35748466357485743574850635748506Missense_MutationGAp.G243S
S117_SOFT_TISSUE35748466357485743574850635748506Missense_MutationGAp.G243S
SNU81_LARGE_INTESTINE35748466357485743574852435748524Missense_MutationCTp.R249W
SNUC5_LARGE_INTESTINE35748466357485743574852535748525Missense_MutationGAp.R249Q
SNU81_LARGE_INTESTINE35750461357505623575047735750477Missense_MutationCAp.P271Q
TE11_OESOPHAGUS35750461357505623575048335750483Missense_MutationGAp.R273K
JHUEM7_ENDOMETRIUM35750461357505623575049535750495Missense_MutationGAp.R277Q
SNU1040_LARGE_INTESTINE35750461357505623575050335750503Missense_MutationTAp.S280T
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35750461357505623575053235750532Missense_MutationGTp.Q289H
NCIH2030_LUNG35763097357633263576310235763102Missense_MutationACp.N334T
CP66MEL_SKIN35763097357633263576311135763111Missense_MutationGTp.G337V
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35763097357633263576311335763113Missense_MutationTCp.S338P
U118MG_CENTRAL_NERVOUS_SYSTEM35763097357633263576313535763135Missense_MutationGCp.R345P
SNUC5_LARGE_INTESTINE35763097357633263576316135763161Missense_MutationAGp.K354E
KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35763097357633263576316835763168Missense_MutationCTp.S356F
NCIH1793_LUNG35763097357633263576319335763193Missense_MutationCAp.S364R
LS180_LARGE_INTESTINE35763097357633263576320035763200Missense_MutationTGp.S367A
MIAPACA2_PANCREAS35763097357633263576320035763200Missense_MutationTGp.S367A
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35763097357633263576320335763203Missense_MutationGAp.D368N
DMS153_LUNG35763097357633263576323035763230Missense_MutationGCp.A377P
SW780_URINARY_TRACT35763097357633263576323035763230Missense_MutationGTp.A377S
AN3CA_ENDOMETRIUM35763097357633263576323735763237Missense_MutationCGp.T379S
TM31_CENTRAL_NERVOUS_SYSTEM35763097357633263576324335763243Missense_MutationCTp.T381M
RH30_SOFT_TISSUE35763097357633263576329435763294Missense_MutationGAp.S398N
SJRH30_SOFT_TISSUE35763097357633263576329435763294Missense_MutationGAp.S398N
Y79_AUTONOMIC_GANGLIA35778670357788543577867235778672Missense_MutationCAp.Q488K
TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35778670357788543577870335778703Missense_MutationCTp.A498V
NCIH2135_LUNG35778670357788543577870335778703Missense_MutationCTp.A498V
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35778670357788543577873935778739Missense_MutationGAp.R510Q
HCT15_LARGE_INTESTINE35778670357788543577875135778751Missense_MutationTCp.V514A
DOTC24510_CERVIX35778670357788543577879835778798Missense_MutationCGp.P530A
HEC1A_ENDOMETRIUM35778670357788543577883435778834Missense_MutationGAp.A542T
HEC1_ENDOMETRIUM35778670357788543577883435778834Missense_MutationGAp.A542T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35748466357485743574857235748572Nonsense_MutationCTp.Q265*
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE35756931357569683575696735756967Splice_SiteAGp.S312G
HS936T_SKIN35758790357588533575884835758848Splice_SiteCTp.R332W
HS936T_SKIN35758790357588493575884835758848Splice_SiteCTp.R332W
MM386_SKIN35778670357788543577885435778854Splice_SiteGAp.Q548Q

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARPP21

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_372585335778674:35778854:35779705:35779810:35780808:3578106935779705:35779810ENST00000417925.1,ENST00000457165.1,ENST00000337271.5,ENST00000444190.1,ENST00000458225.1LGGrs2012153chr3:35779750A/G6.04e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARPP21


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARPP21


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RelatedDrugs for ARPP21

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ARPP21

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource