ExonSkipAD Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

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

leaf

SNVs in the skipped exons with depth of coverage

leaf

AD stage-associated exon skipping events

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Correlation with RNA binding proteins (RBPs)

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for APC

check button Gene summary
Gene informationGene symbol

APC

Gene ID

324

Gene nameAPC regulator of WNT signaling pathway
SynonymsBTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46
Cytomap

5q22.2

Type of geneprotein-coding
Descriptionadenomatous polyposis coli proteinAPC, WNT signaling pathway regulatorWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5epididymis secretory sperm binding proteinprote
Modification date20200329
UniProtAcc

A0A087WYF3,

A0A087X2F3,

A0A1Y6IM53,

A0A1Y6IM71,

A0A1Y6IM94,

A0A1Y6IM95,

A0A1Y6IPP8,

A0A1Y6IQI2,

A0A1Y6IQK5,

A0A1Y6IRU6,

A0A224ANK2,

A0A224AV41,

A0A2Q2SV78,

A0A386AVV0,

A1YIQ7,

A1YIX6,

A1YR11,

A5HB94,

A5HB95,

A5HB96,

A5HB97,

A5JUM6,

A5JUM7,

A5JUM8,

A5JUM9,

D6RFL6,

E7EMH9,

E9PFT7,

P25054,

Q16097,

Q16098,

Q5EBR8,

Q5EBR9,

Q5EEK4,

Q7Z2Q8,

Q9HAW6,

Q9P119,

Q9UM98,

R4GMU6,

Context

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

GO:0006974

cellular response to DNA damage stimulus

14728717

APC

GO:0007026

negative regulation of microtubule depolymerization

11166179

APC

GO:0007050

cell cycle arrest

8521819

APC

GO:0008285

negative regulation of cell proliferation

8521819

APC

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

8521819

APC

GO:0065003

protein-containing complex assembly

16188939


Top

Gene structures and expression levels for APC

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

ENSG00000134982
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
CBUPENST00000508624.5APC-208:nonsense_mediated_decay:APC1.459357e+011.852309e+004.868908e-125.505151e-10
CBUPENST00000505350.1APC-205:nonsense_mediated_decay:APC2.680520e+018.709307e-019.148470e-115.875339e-09
CBUPENST00000507379.5APC-206:protein_coding:APC1.118735e+011.294714e+003.862322e-089.482382e-07
CBUPENST00000508376.6APC-207:protein_coding:APC1.777846e+031.481424e+002.926185e-063.735992e-05
CBUPENST00000509732.5APC-209:protein_coding:APC2.018260e+009.192945e-011.659211e-041.136808e-03
CBUPENST00000504915.2APC-203:protein_coding:APC4.038372e+008.958076e-011.130235e-035.729101e-03
TCUPENST00000508624.5APC-208:nonsense_mediated_decay:APC7.393828e+001.197580e+001.578822e-053.725792e-04
TCUPENST00000508376.6APC-207:protein_coding:APC1.163962e+039.297386e-011.238460e-041.919522e-03

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

Top

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

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_116730chr5112754873:112755025:112766326:112766410:112767189:112767255112766326:112766410
exon_skip_129181chr5112780790:112780903:112801279:112801383:112815495:112815593112801279:112801383
exon_skip_163291chr5112801279:112801383:112815495:112815593:112818966:112819344112815495:112815593
exon_skip_164329chr5112780790:112780903:112792446:112792529:112801279:112801383112792446:112792529
exon_skip_168160chr5112801281:112801383:112810126:112810311:112815495:112815593112810126:112810311
exon_skip_178175chr5112707522:112707882:112754873:112755025:112766326:112766383112754873:112755025
exon_skip_178767chr5112815495:112815593:112818966:112819344:112821896:112821991112818966:112819344
exon_skip_228800chr5112737895:112737925:112738353:112738460:112754873:112755025112738353:112738460
exon_skip_232607chr5112801279:112801383:112810126:112810311:112815495:112815593112810126:112810311
exon_skip_236400chr5112792446:112792529:112801279:112801383:112815495:112815593112801279:112801383
exon_skip_288387chr5112821896:112821991:112823307:112823360:112827108:112827247112823307:112823360
exon_skip_294245chr5112780790:112780903:112792446:112792529:112801279:112801372112792446:112792529
exon_skip_52537chr5112738353:112738460:112754873:112755025:112766326:112766383112754873:112755025
exon_skip_77238chr5112737895:112737925:112754873:112755025:112766326:112766383112754873:112755025
exon_skip_96841chr5112754873:112755025:112766326:112766410:112767189:112767322112766326:112766410

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


Top

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

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
ENST000002574301127548731127550255CDS-5UTR
ENST000005083761127548731127550255CDS-5UTR
ENST000005083761127383531127384605UTR-5UTR
ENST00000257430112766326112766410Frame-shift
ENST00000508376112766326112766410Frame-shift
ENST00000257430112818966112819344Frame-shift
ENST00000508376112818966112819344Frame-shift
ENST00000257430112792446112792529In-frame
ENST00000508376112792446112792529In-frame
ENST00000257430112801279112801383In-frame
ENST00000508376112801279112801383In-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
ENST000002574301127548731127550255CDS-5UTR
ENST000005083761127548731127550255CDS-5UTR
ENST000005083761127383531127384605UTR-5UTR
ENST00000257430112766326112766410Frame-shift
ENST00000508376112766326112766410Frame-shift
ENST00000257430112818966112819344Frame-shift
ENST00000508376112818966112819344Frame-shift
ENST00000257430112792446112792529In-frame
ENST00000508376112792446112792529In-frame
ENST00000257430112815495112815593In-frame
ENST00000508376112815495112815593In-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
ENST000002574301127548731127550255CDS-5UTR
ENST000005083761127548731127550255CDS-5UTR
ENST000005083761127383531127384605UTR-5UTR
ENST00000257430112766326112766410Frame-shift
ENST00000508376112766326112766410Frame-shift
ENST00000257430112818966112819344Frame-shift
ENST00000508376112818966112819344Frame-shift
ENST00000257430112792446112792529In-frame
ENST00000508376112792446112792529In-frame
ENST00000257430112801279112801383In-frame
ENST00000508376112801279112801383In-frame

Top

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

p-ENSG00000134982_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
ENST00000257430107182843112792446112792529703785215243
ENST00000508376106362843112792446112792529804886215243
ENST00000257430107182843112801279112801383787890243278
ENST00000508376106362843112801279112801383888991243278

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
ENST00000257430107182843112792446112792529703785215243
ENST00000508376106362843112792446112792529804886215243
ENST00000257430107182843112815495112815593892989278311
ENST000005083761063628431128154951128155939931090278311

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
ENST00000257430107182843112792446112792529703785215243
ENST00000508376106362843112792446112792529804886215243
ENST00000257430107182843112801279112801383787890243278
ENST00000508376106362843112801279112801383888991243278

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
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P250542152431730Compositional biasNote=Leu-rich
P250542152431730Compositional biasNote=Leu-rich
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P25054243278217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P25054243278217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P2505424327822843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505424327822843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P25054243278127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P25054243278127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P250542432781730Compositional biasNote=Leu-rich
P250542432781730Compositional biasNote=Leu-rich

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
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P250542152431730Compositional biasNote=Leu-rich
P250542152431730Compositional biasNote=Leu-rich
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P2505427831122843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505427831122843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P250542783111730Compositional biasNote=Leu-rich
P250542783111730Compositional biasNote=Leu-rich

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
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P25054215243217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505421524322843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P25054215243127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P250542152431730Compositional biasNote=Leu-rich
P250542152431730Compositional biasNote=Leu-rich
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P25054215243208238HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I
P25054243278217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P25054243278217244Alternative sequenceID=VSP_059028;Note=In isoform 1B. Missing
P2505424327822843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P2505424327822843ChainID=PRO_0000064627;Note=Adenomatous polyposis coli protein
P25054243278127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P25054243278127248Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P250542432781730Compositional biasNote=Leu-rich
P250542432781730Compositional biasNote=Leu-rich


Top

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

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

Top

SNVs in the skipped exons for APC

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

Top

AD stage-associated exon skippint events for APC

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
CDRMSBBIFGexon_skip_2288004.465089e-011.722561e-02chr5+112737895112737925112738353112738460112754873112755025

Top

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

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

Top

Correlation with RNA binding proteins (RBPs) for APC

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
FLELAVL4exon_skip_178175-4.910399e-014.791351e-13
FLMATR3exon_skip_178175-4.361602e-012.554259e-10
FLG3BP2exon_skip_178175-4.853504e-019.688019e-13
FLSRSF2exon_skip_77238-4.575691e-011.979917e-11
FLMSI1exon_skip_772384.852692e-017.442898e-13
FLELAVL4exon_skip_77238-5.375169e-016.425414e-16
FLMATR3exon_skip_77238-5.188608e-019.172938e-15
FLILF2exon_skip_77238-4.542923e-012.863498e-11
FLG3BP2exon_skip_77238-5.661425e-017.785759e-18
FLSRSF9exon_skip_77238-4.549930e-012.647127e-11
FLNOVA1exon_skip_77238-4.045870e-014.888408e-09
FLMSI1exon_skip_2883874.289397e-012.882801e-10
FLSRSF9exon_skip_288387-4.240565e-014.800004e-10
HCCMSI1exon_skip_1781755.199329e-011.412614e-18
HCCRBM6exon_skip_1781754.886481e-012.738951e-16
HCCRBM5exon_skip_1781754.701793e-014.810635e-15
HCCRBM47exon_skip_1781754.419082e-012.804631e-13
HCCG3BP2exon_skip_178175-5.965414e-012.702168e-25
HCCMSI1exon_skip_772385.813530e-012.881617e-25
HCCRBM6exon_skip_772385.239893e-015.096007e-20
HCCRBM5exon_skip_772385.021557e-012.855600e-18
HCCRBM47exon_skip_772384.909963e-012.005092e-17
HCCG3BP2exon_skip_77238-5.672227e-017.046807e-24
HCCRBM47exon_skip_689094.233278e-013.741914e-11
HCCG3BP2exon_skip_68909-4.351916e-019.113429e-12
IFGELAVL4exon_skip_178175-4.387508e-011.950982e-02
IFGILF2exon_skip_178175-4.102498e-013.013291e-02
IFGG3BP2exon_skip_178175-4.891756e-018.247763e-03
IFGHNRNPDLexon_skip_178175-4.310774e-012.200816e-02
IFGHNRNPKexon_skip_181975.105308e-011.280345e-02
IFGEWSR1exon_skip_181974.859206e-011.873387e-02
IFGRBM47exon_skip_772384.940986e-017.530615e-03
IFGMATR3exon_skip_52537-5.637725e-011.782092e-03
IFGILF2exon_skip_52537-4.008008e-013.454308e-02
IFGG3BP2exon_skip_52537-4.661247e-011.241626e-02
IFGHNRNPDLexon_skip_52537-5.715840e-011.486205e-03
IFGSRSF9exon_skip_52537-4.558696e-011.476785e-02
PCCMSI1exon_skip_1781754.492761e-019.983803e-11
PCCELAVL4exon_skip_178175-6.084294e-012.019616e-20
PCCMATR3exon_skip_178175-4.577834e-013.973221e-11
PCCILF2exon_skip_178175-4.148236e-013.245157e-09
PCCG3BP2exon_skip_178175-7.040590e-011.848491e-29
PCCNOVA1exon_skip_178175-4.552007e-015.269780e-11
PCCMSI1exon_skip_772384.364594e-011.161216e-10
PCCELAVL4exon_skip_77238-4.919976e-011.583240e-13
PCCRBM47exon_skip_772384.184912e-017.699327e-10
PCCG3BP2exon_skip_77238-6.007262e-016.638950e-21
PCCG3BP2exon_skip_52537-4.313234e-013.795801e-10
PGELAVL4exon_skip_178175-6.340930e-015.880838e-21
PGMATR3exon_skip_178175-4.803166e-011.986507e-11
PGILF2exon_skip_178175-4.510509e-014.212169e-10
PGG3BP2exon_skip_178175-5.728664e-011.460494e-16
PGNOVA1exon_skip_178175-4.310392e-012.896095e-09
PGELAVL4exon_skip_77238-5.894430e-015.642009e-19
PGMATR3exon_skip_77238-4.219700e-011.627170e-09
PGG3BP2exon_skip_77238-5.371044e-011.924659e-15
STGMSI1exon_skip_1781754.627950e-016.383852e-06
STGELAVL4exon_skip_178175-4.011121e-011.180195e-04
STGIGF2BP2exon_skip_1781754.341053e-012.660407e-05
STGRBM47exon_skip_1781754.652018e-015.629847e-06
STGSRSF2exon_skip_77238-4.155168e-016.276701e-05
STGELAVL4exon_skip_77238-5.479701e-013.942337e-08
STGMATR3exon_skip_77238-5.243305e-011.863702e-07
STGILF2exon_skip_77238-4.083268e-018.633134e-05
STGG3BP2exon_skip_77238-5.741039e-016.118678e-09
STGHNRNPDLexon_skip_77238-4.312506e-013.045265e-05
STGNUP42exon_skip_77238-4.306323e-013.135191e-05
STGSRSF1exon_skip_77238-4.046099e-011.015100e-04
STGSRSF9exon_skip_77238-4.353160e-012.511333e-05
STGNOVA1exon_skip_77238-4.700422e-014.359708e-06
STGMATR3exon_skip_52537-4.027467e-015.470902e-04
TCELAVL4exon_skip_178175-5.720443e-011.077214e-11
TCMATR3exon_skip_178175-4.770084e-014.145869e-08
TCG3BP2exon_skip_178175-4.810505e-013.065478e-08
TCNUP42exon_skip_178175-4.232547e-011.620103e-06
TCNOVA1exon_skip_178175-5.278338e-016.893409e-10
TCMSI1exon_skip_772384.661925e-013.318743e-08
TCELAVL4exon_skip_77238-5.639482e-015.062396e-12
TCRBM6exon_skip_772384.097916e-011.715964e-06
TCG3BP2exon_skip_77238-4.002198e-013.131065e-06
TCNUP42exon_skip_77238-4.074128e-011.996072e-06
TCNOVA1exon_skip_77238-4.549530e-017.719407e-08

Top

RelatedDrugs for APC

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

Top

RelatedDiseases for APC

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