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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 RPSMAP, MSBB, and Mayo

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

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ADCYAP1R1

check button Gene summary
Gene informationGene symbol

ADCYAP1R1

Gene ID

117

Gene nameADCYAP receptor type I
SynonymsPAC1|PAC1R|PACAPR|PACAPRI
Cytomap

7p14.3

Type of geneprotein-coding
Descriptionpituitary adenylate cyclase-activating polypeptide type I receptorPACAP receptor 1PACAP type I receptorPACAP-R1adenylate cyclase activating polypeptide 1 (pituitary) receptor type Ipituitary adenylate cyclase activating polypeptide 1 receptor type I
Modification date20200313
UniProtAcc

A0A090N8F8,

C9JVH3,

E9PFU5,

H0Y813,

P41586,

Q6RKA2,

Q6RKA3,

Q6S991,

Q6S992,

Context

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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Gene structures and expression levels for ADCYAP1R1

check buttonSkipped 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.
all structure

ENSG00000078549
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
STGUPENST00000409363.5ADCYAP1R1-203:protein_coding:ADCYAP1R13.442536e+011.059643e+001.795486e-041.551138e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ADCYAP1R1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_10553chr731080613:31080633:31081713:31081754:31084141:3108425031081713:31081754
exon_skip_106576chr731077991:31078098:31080613:31080633:31081713:3108175431080613:31080633
exon_skip_113854chr731092644:31092735:31095667:31095750:31103237:3110327131095667:31095750
exon_skip_115048chr731095667:31095750:31100127:31100210:31103237:3110331931100127:31100210
exon_skip_129325chr731092689:31092735:31095667:31095750:31100127:3110021031095667:31095750
exon_skip_136806chr731092644:31092735:31095667:31095750:31100127:3110021031095667:31095750
exon_skip_141697chr731084141:31084250:31084737:31084834:31085310:3108544231084737:31084834
exon_skip_154687chr731086384:31086537:31086943:31087003:31087627:3108769631086943:31087003
exon_skip_218834chr731092644:31092735:31100127:31100210:31103237:3110336631100127:31100210
exon_skip_225508chr731103237:31103366:31104868:31104909:31106496:3110670931104868:31104909
exon_skip_227883chr731092644:31092735:31095667:31095750:31103237:3110336631095667:31095750
exon_skip_235090chr731092689:31092735:31100127:31100210:31103237:3110336631100127:31100210
exon_skip_236151chr731092689:31092735:31095667:31095750:31103237:3110336631095667:31095750
exon_skip_261930chr731100130:31100210:31103237:31103366:31104868:3110489931103237:31103366
exon_skip_268671chr731092644:31092735:31100127:31100210:31103237:3110331931100127:31100210
exon_skip_271537chr731095667:31095750:31100127:31100210:31103237:3110327131100127:31100210
exon_skip_27154chr731092644:31092735:31095667:31095750:31103237:3110331931095667:31095750
exon_skip_284984chr731092689:31092735:31103237:31103366:31104868:3110489931103237:31103366
exon_skip_29516chr731095667:31095750:31100127:31100210:31103237:3110336631100127:31100210
exon_skip_44386chr731092644:31092735:31103237:31103366:31104868:3110489931103237:31103366
exon_skip_64044chr731064831:31064936:31077991:31078098:31084141:3108425031077991:31078098
exon_skip_66232chr731092705:31092735:31095667:31095750:31100127:3110021031095667:31095750
exon_skip_7752chr731052527:31052678:31063194:31063315:31064831:3106493631063194:31063315
exon_skip_84281chr731092644:31092735:31100127:31100210:31103237:3110327131100127:31100210
exon_skip_87430chr731084737:31084834:31085310:31085442:31086384:3108653731085310:31085442
exon_skip_95176chr731064831:31064936:31077991:31078098:31084141:3108421031077991:31078098

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_218834MSBB_PG1.565541e-012.691379e-01-1.125839e-012.376720e-06
exon_skip_251070Mayo_CB2.785185e-011.506154e-011.279031e-011.514523e-04


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Open reading frame (ORF) annotation in the exon skipping event for ADCYAP1R1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003041663108473731084834Frame-shift
ENST000003041663110323731103366Frame-shift
ENST000003041663108061331080633In-frame
ENST000003041663108171331081754In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003041663110323731103366Frame-shift
ENST000003041663108061331080633In-frame
ENST000003041663108171331081754In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003041663108473731084834Frame-shift
ENST000003041663108531031085442Frame-shift
ENST000003041663108694331087003Frame-shift
ENST000003041663110323731103366Frame-shift
ENST000003041663108061331080633In-frame
ENST000003041663108171331081754In-frame
ENST000003041663110486831104909In-frame

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Infer the effects of exon skipping event on protein functional features for ADCYAP1R1

p-ENSG00000078549_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003041666504468310817133108175457761796109

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003041666504468310817133108175457761796109

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003041666504468310817133108175457761796109
ENST000003041666504468311048683110490914671507392406

check button 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 featureDescription of feature
P415869610989109Alternative sequenceID=VSP_042670;Note=In isoform S%2C isoform S-HOP1 and isoform VS. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P415869610921468ChainID=PRO_0000012841;Note=Pituitary adenylate cyclase-activating polypeptide type I receptor
P415869610954118Disulfide bond.
P415869610977134Disulfide bond.
P415869610921155Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button 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 featureDescription of feature
P415869610989109Alternative sequenceID=VSP_042670;Note=In isoform S%2C isoform S-HOP1 and isoform VS. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P415869610921468ChainID=PRO_0000012841;Note=Pituitary adenylate cyclase-activating polypeptide type I receptor
P415869610954118Disulfide bond.
P415869610977134Disulfide bond.
P415869610921155Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button 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 featureDescription of feature
P415869610989109Alternative sequenceID=VSP_042670;Note=In isoform S%2C isoform S-HOP1 and isoform VS. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P415869610921468ChainID=PRO_0000012841;Note=Pituitary adenylate cyclase-activating polypeptide type I receptor
P415869610954118Disulfide bond.
P415869610977134Disulfide bond.
P415869610921155Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P4158639240621468ChainID=PRO_0000012841;Note=Pituitary adenylate cyclase-activating polypeptide type I receptor
P41586392406406468Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P41586392406386405TransmembraneNote=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255


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3'-UTR located exon skipping events that lost miRNA binding sites in ADCYAP1R1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ADCYAP1R1

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ADCYAP1R1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADCYAP1R1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
PCCexon_skip_64044rs17159800chr7:310042971.020253e-052.588077e-03

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Correlation with RNA binding proteins (RBPs) for ADCYAP1R1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBHNRNPFexon_skip_2510705.591474e-012.213938e-13
CBNOVA1exon_skip_2686714.086309e-019.811309e-08
CBRBM6exon_skip_295922-4.450588e-011.154604e-08
CBCNOT4exon_skip_295922-4.370032e-012.256268e-08
CBPCBP4exon_skip_2959225.765093e-011.163120e-14
CBNUP42exon_skip_2959225.121529e-012.098725e-11
CBSRSF4exon_skip_295922-4.067865e-012.396940e-07
CBRBM4exon_skip_295922-5.973464e-017.099844e-16
CBNOVA1exon_skip_2785254.424945e-015.840742e-09
CBCNOT4exon_skip_44386-5.443440e-012.058579e-13
CBPCBP4exon_skip_443865.080244e-011.291274e-11
CBHNRNPLexon_skip_44386-4.033336e-011.783271e-07
CBRBM23exon_skip_44386-5.113665e-019.002967e-12
CBSRSF4exon_skip_44386-5.478254e-011.348124e-13
DLPFCSRSF11exon_skip_218834-4.086799e-014.964779e-14
FLSRSF2exon_skip_2188345.591294e-011.632944e-17
FLSRSF11exon_skip_2188344.389390e-011.231189e-10
FLMBNL1exon_skip_2188345.364132e-015.353669e-16
FLHNRNPLexon_skip_2188345.223162e-014.106073e-15
FLNOVA1exon_skip_2188345.514315e-015.489226e-17
FLRBM4exon_skip_2188344.317152e-012.655164e-10
PCCRBM6exon_skip_84281-4.776961e-011.343954e-13
PGHNRNPLexon_skip_2188344.216460e-012.759799e-10
PGNOVA1exon_skip_2188344.683289e-011.260101e-12
PGRBM4exon_skip_2188344.693219e-011.113426e-12
STGSRSF11exon_skip_2188344.061859e-017.832673e-05
STGNOVA1exon_skip_2188345.159481e-012.282097e-07
TCSRSF2exon_skip_2350905.076701e-018.498287e-12
TCSRSF11exon_skip_2350904.220266e-013.014193e-08
TCMBNL1exon_skip_2350904.348936e-011.015001e-08
TCHNRNPLexon_skip_2350904.825214e-011.189405e-10
TCSRSF5exon_skip_2350904.592696e-011.135477e-09
TCNOVA1exon_skip_2350906.222011e-012.057436e-18

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RelatedDrugs for ADCYAP1R1

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

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RelatedDiseases for ADCYAP1R1

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