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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 APP

check button Gene summary
Gene informationGene symbol

APP

Gene ID

351

Gene nameamyloid beta precursor protein
SynonymsAAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4
Cytomap

21q21.3

Type of geneprotein-coding
Descriptionamyloid-beta precursor proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor protei
Modification date20200329
UniProtAcc

A0A0A0MRG2,

A0A218KGR2,

E9PG40,

H7C0V9,

H7C2L2,

L7XCZ9,

L7XE61,

L8EC46,

P05067,

Q9BYY9,

Context- 31039414(The Y 682 ENPTY 687 Motif of APP: Progress and Insights Toward a Targeted Therapy for Alzheimer's Disease Patients)

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

GO:0001934

positive regulation of protein phosphorylation

11404397

APP

GO:0008285

negative regulation of cell proliferation

22944668

APP

GO:1905606

regulation of presynapse assembly

19726636


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Gene structures and expression levels for APP

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

ENSG00000142192
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
PCCDOWNENST00000359726.7APP-206:protein_coding:APP3.867944e+01-9.525624e-013.596373e-041.337693e-02
HCCUPENST00000346798.8APP-201:protein_coding:APP1.326528e+022.812444e+017.095272e-312.545854e-26
CBUPENST00000555705.1EAPP-204:nonsense_mediated_decay:EAPP3.110204e+018.048984e-013.674294e-101.907668e-08
CBDOWNENST00000354192.7APP-203:protein_coding:APP3.784647e+03-1.658370e+009.944047e-045.139437e-03

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 APP

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_108424chr2125982344:25982477:25997360:25997416:26021840:2602186925997360:25997416
exon_skip_110747chr2126090056:26090072:26111979:26112146:26170564:2617065426111979:26112146
exon_skip_11454chr2125997360:25997416:26000015:26000182:26021840:2602194626000015:26000182
exon_skip_138260chr2126089943:26090072:26111979:26112146:26170564:2617060026111979:26112146
exon_skip_149084chr2125891722:25891868:25897573:25897673:25905024:2590507725897573:25897673
exon_skip_152012chr2125982344:25982477:26000015:26000182:26021840:2602194626000015:26000182
exon_skip_152750chr2126089943:26090072:26111979:26112146:26170564:2617060826111979:26112146
exon_skip_158147chr2125997360:25997416:26000015:26000182:26021840:2602186926000015:26000182
exon_skip_159026chr2126090015:26090072:26111979:26112146:26170564:2617065426111979:26112146
exon_skip_163335chr2125891722:25891868:25897573:25897673:25911741:2591196225897573:25897673
exon_skip_165055chr2126053301:26053348:26089943:26090072:26170564:2617065426089943:26090072
exon_skip_175651chr2125982344:25982477:25997360:25997416:26021840:2602194625997360:25997416
exon_skip_180301chr2125982344:25982477:26000015:26000182:26021840:2602198026000015:26000182
exon_skip_182893chr2125897573:25897673:25905024:25905077:25911741:2591196225905024:25905077
exon_skip_201726chr2125982344:25982477:25997360:25997416:26021840:2602204225997360:25997416
exon_skip_203811chr2126053236:26053348:26089943:26090072:26170564:2617060026089943:26090072
exon_skip_20530chr2126000015:26000182:26021840:26022042:26051000:2605101826021840:26022042
exon_skip_207069chr2125897573:25897673:25905024:25905077:25911741:2591186825905024:25905077
exon_skip_21695chr2125982344:25982477:25997360:25997416:26021840:2602191425997360:25997416
exon_skip_22507chr2125881693:25881771:25891722:25891868:25897573:2589767325891722:25891868
exon_skip_228527chr2125982344:25982477:25997360:25997416:26021840:2602184925997360:25997416
exon_skip_246290chr2125982344:25982477:26000015:26000182:26021840:2602191426000015:26000182
exon_skip_255389chr2125975190:25975228:25975954:25976028:25982344:2598247725975954:25976028
exon_skip_25558chr2125982344:25982477:26000015:26000182:26021840:2602184926000015:26000182
exon_skip_255671chr2126053236:26053348:26089943:26090072:26170564:2617065426089943:26090072
exon_skip_256410chr2126051160:26051193:26053236:26053348:26089943:2609006126053236:26053348
exon_skip_267762chr2125997360:25997416:26000015:26000182:26021840:2602191426000015:26000182
exon_skip_27488chr2125982344:25982477:25997360:25997416:26000015:2600018225997360:25997416
exon_skip_275742chr2125982344:25982477:26000015:26000182:26021840:2602186926000015:26000182
exon_skip_280416chr2125881610:25881771:25891722:25891868:25897573:2589767325891722:25891868
exon_skip_281533chr2126053236:26053348:26089943:26090072:26170564:2617060826089943:26090072
exon_skip_28740chr2125982344:25982477:26000015:26000182:26021840:2602204226000015:26000182
exon_skip_288036chr2125881680:25881771:25891722:25891868:25897573:2589767325891722:25891868
exon_skip_30936chr2125897657:25897673:25905024:25905077:25911741:2591196225905024:25905077
exon_skip_32011chr2125982344:25982477:25997360:25997416:26021840:2602192725997360:25997416
exon_skip_37chr2125897573:25897673:25905024:25905077:25911741:2591189225905024:25905077
exon_skip_39166chr2125997360:25997416:26000015:26000182:26021840:2602192726000015:26000182
exon_skip_45405chr2125982344:25982477:25997360:25997416:26000015:2600004725997360:25997416
exon_skip_51785chr2126089943:26090072:26111979:26112146:26170564:2617065426111979:26112146
exon_skip_69085chr2125982344:25982477:25997360:25997416:26021840:2602198025997360:25997416
exon_skip_71607chr2125897573:25897673:25905024:25905077:25911741:2591184825905024:25905077
exon_skip_80047chr2125982436:25982477:25997360:25997416:26000015:2600018225997360:25997416
exon_skip_8897chr2125997360:25997416:26000015:26000182:26021840:2602198026000015:26000182
exon_skip_89430chr2125997360:25997416:26000015:26000182:26021840:2602204226000015:26000182
exon_skip_92550chr2125982344:25982477:26000015:26000182:26021840:2602192726000015:26000182
exon_skip_9531chr2125982344:25982477:25997360:25997416:26000015:2600009425997360:25997416
exon_skip_98085chr2125997360:25997416:26000015:26000182:26021840:2602184926000015:26000182

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_28740MSBB_PG5.200000e-014.045614e-011.154386e-012.965425e-07


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

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
ENST000003467982589757325897673Frame-shift
ENST000003467982602184026022042Frame-shift
ENST000003467982605323626053348Frame-shift
ENST000003467982589172225891868In-frame
ENST000003467982590502425905077In-frame
ENST000003467982597595425976028In-frame
ENST000003467982599736025997416In-frame
ENST000003467982600001526000182In-frame
ENST000003467982611197926112146In-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
ENST000003467982589757325897673Frame-shift
ENST000003467982590502425905077In-frame
ENST000003467982599736025997416In-frame
ENST000003467982600001526000182In-frame
ENST000003467982611197926112146In-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
ENST000003467982589757325897673Frame-shift
ENST000003467982605323626053348Frame-shift
ENST000003467982589172225891868In-frame
ENST000003467982590502425905077In-frame
ENST000003467982597595425976028In-frame
ENST000003467982599736025997416In-frame
ENST000003467982600001526000182In-frame
ENST000003467982611197926112146In-frame

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

p-ENSG00000142192_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
ENST0000034679834847702611197926112146922581974
ENST00000346798348477026000015260001829001066288344
ENST000003467983484770259973602599741610681123344363
ENST000003467983484770259759542597602812591332408432
ENST000003467983484770259050242590507719441996636654
ENST000003467983484770258917222589186820992244688736

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
ENST0000034679834847702611197926112146922581974
ENST00000346798348477026000015260001829001066288344
ENST000003467983484770259973602599741610681123344363
ENST000003467983484770259050242590507719441996636654

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
ENST0000034679834847702611197926112146922581974
ENST00000346798348477026000015260001829001066288344
ENST000003467983484770259973602599741610681123344363
ENST000003467983484770259759542597602812591332408432
ENST000003467983484770259050242590507719441996636654
ENST000003467983484770258917222589186820992244688736

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
P050671974119Alternative sequenceID=VSP_045446;Note=In isoform 11. MLPGLALLLLAAWTARALE->MDQLEDLLVLFINY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P0506719741974Alternative sequenceID=VSP_009116;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P0506719743335Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719744345Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745254Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745658Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PWQ
P05067197418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P05067197418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P05067197418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067197418286ChainID=PRO_0000381966;Note=N-APP
P0506719743862Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197473117Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197428189DomainNote=E1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P0506719742628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719746676HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067197428123RegionNote=GFLD subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P05067197418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506719744749TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067288344289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067288344289289Alternative sequenceID=VSP_000002;Note=In isoform APP695%2C isoform L-APP696%2C isoform L-APP677 and isoform APP714. E->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344290305Alternative sequenceID=VSP_000005;Note=In isoform APP305. VCSEQAETGPCRAMIS->KWYKEVHSGQARWLML;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344299301Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344304310Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344315321Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344323325Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344331333Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P0506728834418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506728834418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506728834418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067288344291341Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33
P05067288344300324Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344316337Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344291341DomainNote=BPTI/Kunitz inhibitor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031
P05067288344288292HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344334341HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344301302SiteNote=Reactive bond
P0506728834418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344311314TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067344363289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067344363290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067344363290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067344363306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067344363345364Alternative sequenceID=VSP_045447;Note=In isoform 11. MSQSLLKTTQEPLARDPVKL->I;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P05067344363345345Alternative sequenceID=VSP_000007;Note=In isoform L-APP733 and isoform APP751. M->I;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P05067344363346364Alternative sequenceID=VSP_000008;Note=In isoform L-APP733 and isoform APP751. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P0506734436318770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506734436318687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506734436318671ChainID=PRO_0000000090;Note=Soluble APP-beta
P0506734436318701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067408432306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067408432421423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P0506740843218770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506740843218687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506740843218671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067408432374565DomainNote=E2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01218
P05067408432389418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P05067408432425480HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P05067408432391423RegionNote=Heparin-binding
P0506740843218701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067636654306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067636654637654Alternative sequenceID=VSP_000009;Note=In isoform L-APP677%2C isoform L-APP696%2C isoform L-APP733 and isoform L-APP752. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1587857;Dbxref=PMID:1587857
P0506763665418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506763665418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506763665418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067636654651651GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654652652GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654647647Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506763665418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067688736688691Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OVJ
P05067688736692694Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MVI
P05067688736701703Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PZZ
P05067688736707712Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y3K
P0506768873618770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P05067688736672770ChainID=PRO_0000000091;Note=C99
P05067688736672713ChainID=PRO_0000000092;Note=Amyloid-beta protein 42
P05067688736672711ChainID=PRO_0000000093;Note=Amyloid-beta protein 40
P05067688736688770ChainID=PRO_0000000094;Note=C83
P05067688736691770ChainID=PRO_0000384574;Note=C80
P05067688736712770ChainID=PRO_0000000097;Note=Gamma-secretase C-terminal fragment 59
P05067688736714770ChainID=PRO_0000000098;Note=Gamma-secretase C-terminal fragment 57
P05067688736721770ChainID=PRO_0000000099;Note=Gamma-secretase C-terminal fragment 50;Ontology_term=ECO:0000250;evidence=ECO:0000250
P05067688736729729Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08592
P05067688736730730Modified residueNote=Phosphoserine%3B by APP-kinase I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08592
P05067688736724734MotifNote=Basolateral sorting signal
P05067688736704704MutagenesisNote=Reduced protein oxidation. No hippocampal neuron toxicity. G->V
P05067688736706706MutagenesisNote=Reduced lipid peroxidation inhibition. M->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10535332,ECO:0000269|PubMed:9168929;Dbxref=PMID:10535332,PMID:9168929
P05067688736706706MutagenesisNote=No free radical production. No hippocampal neuron toxicity. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10535332,ECO:0000269|PubMed:9168929;Dbxref=PMID:10535332,PMID:9168929
P05067688736717717MutagenesisNote=Unchanged amyloid-beta protein 42/total amyloid-beta ratio. V->C%2CS;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Increased amyloid-beta protein 42/40 ratio. V->F%2CG%2CI;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Decreased amyloid-beta protein 42/total amyloid-beta ratio. V->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Increased amyloid-beta protein 42/40 ratio. No change in apoptosis after caspase cleavage. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736728728MutagenesisNote=No effect on APBA1 nor APBB1 binding. Greatly reduces the binding to APPBP2. APP internalization unchanged. No change in amyloid-beta protein 42 secretion. Y->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10383380,EC
P05067688736692692Natural variantID=VAR_000016;Note=In AD1%3B Flemish mutation%3B increases the solubility of processed amyloid-beta peptides and increases the stability of peptide oligomers. A->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11311152,ECO:
P05067688736693693Natural variantID=VAR_014215;Note=In AD1. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528419,ECO:0000269|PubMed:1415269;Dbxref=dbSNP:rs63751039,PMID:11528419,PMID:1415269
P05067688736693693Natural variantID=VAR_014216;Note=In CAA-APP%3B Italian type. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20697050;Dbxref=dbSNP:rs63750579,PMID:20697050
P05067688736693693Natural variantID=VAR_000017;Note=In CAA-APP%3B Dutch type. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2111584;Dbxref=dbSNP:rs63750579,PMID:2111584
P05067688736694694Natural variantID=VAR_014217;Note=In CAA-APP%3B Iowa type. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11409420,ECO:0000269|PubMed:12654973;Dbxref=dbSNP:rs63749810,PMID:11409420,PMID:12654973
P05067688736705705Natural variantID=VAR_032276;Note=In CAA-APP%3B Italian type. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16178030;Dbxref=dbSNP:rs63750921,PMID:16178030
P05067688736713713Natural variantID=VAR_000019;Note=In AD1. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1303275,ECO:0000269|PubMed:15365148;Dbxref=dbSNP:rs63750066,PMID:1303275,PMID:15365148
P05067688736713713Natural variantID=VAR_000018;Note=In one chronic schizophrenia patient%3B unknown pathological significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1307241;Dbxref=dbSNP:rs1800557,PMID:1307241
P05067688736714714Natural variantID=VAR_032277;Note=In AD1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12034808;Dbxref=dbSNP:rs63750643,PMID:12034808
P05067688736714714Natural variantID=VAR_014218;Note=In AD1%3B increased amyloid-beta protein 42/40 ratio. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:15668448;Dbxref=dbSNP:rs63750973,PMID:11063718,PMID:15668448
P05067688736715715Natural variantID=VAR_010108;Note=In AD1%3B decreased amyloid-beta protein 40/total amyloid-beta. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10097173;Dbxref=dbSNP:rs63750734,PMID:10097173
P05067688736716716Natural variantID=VAR_000020;Note=In AD1. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9328472;Dbxref=dbSNP:rs63750399,PMID:9328472
P05067688736717717Natural variantID=VAR_000023;Note=In AD1. V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1925564,ECO:0000269|PubMed:8267572,ECO:0000269|PubMed:8290042,ECO:0000269|PubMed:8476439;Dbxref=dbSNP:rs63750264,PMID:1925564,PMID:82
P05067688736717717Natural variantID=VAR_000022;Note=In AD1. V->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1944558,ECO:0000269|PubMed:8476439;Dbxref=dbSNP:rs63749964,PMID:1944558,PMID:8476439
P05067688736717717Natural variantID=VAR_000021;Note=In AD1. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631141,ECO:0000269|PubMed:1671712,ECO:0000269|PubMed:1678058,ECO:0000269|PubMed:1908231,ECO:000
P05067688736717717Natural variantID=VAR_014219;Note=In AD1. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10867787;Dbxref=dbSNP:rs63750264,PMID:10867787
P05067688736723723Natural variantID=VAR_010109;Note=In AD1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10665499;Dbxref=dbSNP:rs63751122,PMID:10665499
P05067688736688713PeptideID=PRO_0000000095;Note=P3(42)
P05067688736688711PeptideID=PRO_0000000096;Note=P3(40)
P05067688736732751RegionNote=Interaction with G(o)-alpha
P05067688736724724Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736724724Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736687688SiteNote=Cleavage%3B by alpha-secretase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736690691SiteNote=Cleavage%3B by theta-secretase;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16816112;Dbxref=PMID:16816112
P05067688736704704SiteNote=Implicated in free radical propagation;Ontology_term=ECO:0000250;evidence=ECO:0000250
P05067688736706706SiteNote=Susceptible to oxidation;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10535332;Dbxref=PMID:10535332
P05067688736711712SiteNote=Cleavage%3B by gamma-secretase%3B site 1;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736713714SiteNote=Cleavage%3B by gamma-secretase%3B site 2;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736720721SiteNote=Cleavage%3B by gamma-secretase%3B site 3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11851430;Dbxref=PMID:11851430
P0506768873618701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736723770Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736702722TransmembraneNote=Helical;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:22584060,ECO:0000305|PubMed:22654059;Dbxref=PMID:22584060,PMID:22654059
P05067688736695698TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MVI

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
P050671974119Alternative sequenceID=VSP_045446;Note=In isoform 11. MLPGLALLLLAAWTARALE->MDQLEDLLVLFINY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P0506719741974Alternative sequenceID=VSP_009116;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P0506719743335Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719744345Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745254Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745658Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PWQ
P05067197418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P05067197418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P05067197418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067197418286ChainID=PRO_0000381966;Note=N-APP
P0506719743862Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197473117Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197428189DomainNote=E1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P0506719742628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719746676HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067197428123RegionNote=GFLD subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P05067197418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506719744749TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067288344289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067288344289289Alternative sequenceID=VSP_000002;Note=In isoform APP695%2C isoform L-APP696%2C isoform L-APP677 and isoform APP714. E->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344290305Alternative sequenceID=VSP_000005;Note=In isoform APP305. VCSEQAETGPCRAMIS->KWYKEVHSGQARWLML;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344299301Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344304310Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344315321Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344323325Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344331333Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P0506728834418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506728834418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506728834418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067288344291341Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33
P05067288344300324Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344316337Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344291341DomainNote=BPTI/Kunitz inhibitor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031
P05067288344288292HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344334341HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344301302SiteNote=Reactive bond
P0506728834418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344311314TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067344363289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067344363290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067344363290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067344363306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067344363345364Alternative sequenceID=VSP_045447;Note=In isoform 11. MSQSLLKTTQEPLARDPVKL->I;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P05067344363345345Alternative sequenceID=VSP_000007;Note=In isoform L-APP733 and isoform APP751. M->I;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P05067344363346364Alternative sequenceID=VSP_000008;Note=In isoform L-APP733 and isoform APP751. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P0506734436318770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506734436318687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506734436318671ChainID=PRO_0000000090;Note=Soluble APP-beta
P0506734436318701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067636654306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067636654637654Alternative sequenceID=VSP_000009;Note=In isoform L-APP677%2C isoform L-APP696%2C isoform L-APP733 and isoform L-APP752. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1587857;Dbxref=PMID:1587857
P0506763665418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506763665418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506763665418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067636654651651GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654652652GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654647647Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506763665418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P050671974119Alternative sequenceID=VSP_045446;Note=In isoform 11. MLPGLALLLLAAWTARALE->MDQLEDLLVLFINY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P0506719741974Alternative sequenceID=VSP_009116;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P0506719743335Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719744345Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745254Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719745658Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PWQ
P05067197418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P05067197418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P05067197418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067197418286ChainID=PRO_0000381966;Note=N-APP
P0506719743862Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197473117Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000255;evidence=ECO:0000244|PDB:1MWP,ECO:0000244|PDB:3KTM,ECO:0000244|PDB:4JFN,ECO:0000244|PDB:4PQD,ECO:0000244|PDB:4PWQ,ECO:0000255|PROSITE-ProRule:PRU01217
P05067197428189DomainNote=E1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P0506719742628HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P0506719746676HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067197428123RegionNote=GFLD subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01217
P05067197418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506719744749TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PQD
P05067288344289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067288344289289Alternative sequenceID=VSP_000002;Note=In isoform APP695%2C isoform L-APP696%2C isoform L-APP677 and isoform APP714. E->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067288344290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344290305Alternative sequenceID=VSP_000005;Note=In isoform APP305. VCSEQAETGPCRAMIS->KWYKEVHSGQARWLML;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067288344299301Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344304310Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344315321Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344323325Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344331333Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P0506728834418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506728834418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506728834418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067288344291341Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33
P05067288344300324Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344316337Disulfide bondOntology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PDB:1AAP,ECO:0000244|PDB:1BRC,ECO:0000244|PDB:1CA0,ECO:0000244|PDB:1TAW,ECO:0000244|PDB:1ZJD,ECO:0000244|PDB:3L33,ECO:0000244|PDB:5C67
P05067288344291341DomainNote=BPTI/Kunitz inhibitor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00031
P05067288344288292HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344334341HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067288344301302SiteNote=Reactive bond
P0506728834418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067288344311314TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1AAP
P05067344363289363Alternative sequenceID=VSP_009117;Note=In isoform APP639. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12859342;Dbxref=PMID:12859342
P05067344363290364Alternative sequenceID=VSP_000004;Note=In isoform APP695 and isoform L-APP677. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:2881207;Dbxref=PMID:2881207
P05067344363290345Alternative sequenceID=VSP_000003;Note=In isoform L-APP696 and isoform APP714. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067344363306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067344363345364Alternative sequenceID=VSP_045447;Note=In isoform 11. MSQSLLKTTQEPLARDPVKL->I;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P05067344363345345Alternative sequenceID=VSP_000007;Note=In isoform L-APP733 and isoform APP751. M->I;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P05067344363346364Alternative sequenceID=VSP_000008;Note=In isoform L-APP733 and isoform APP751. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:1587857,ECO:0000303|PubMed:2893289;Dbxref=PMID:15489334,PMID:1587857,PMID:2893289
P0506734436318770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506734436318687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506734436318671ChainID=PRO_0000000090;Note=Soluble APP-beta
P0506734436318701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067408432306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067408432421423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P0506740843218770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506740843218687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506740843218671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067408432374565DomainNote=E2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01218
P05067408432389418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P05067408432425480HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3UMH
P05067408432391423RegionNote=Heparin-binding
P0506740843218701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067636654306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067636654637654Alternative sequenceID=VSP_000009;Note=In isoform L-APP677%2C isoform L-APP696%2C isoform L-APP733 and isoform L-APP752. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1587857;Dbxref=PMID:1587857
P0506763665418770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P0506763665418687ChainID=PRO_0000000089;Note=Soluble APP-alpha
P0506763665418671ChainID=PRO_0000000090;Note=Soluble APP-beta
P05067636654651651GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654652652GlycosylationNote=O-linked (GalNAc...) threonine%3B partial;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21712440,ECO:0000269|PubMed:22576872;Dbxref=PMID:21712440,PMID:22576872
P05067636654647647Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0506763665418701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736306770Alternative sequenceID=VSP_000006;Note=In isoform APP305. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P05067688736688691Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OVJ
P05067688736692694Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MVI
P05067688736701703Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PZZ
P05067688736707712Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Y3K
P0506768873618770ChainID=PRO_0000000088;Note=Amyloid-beta A4 protein
P05067688736672770ChainID=PRO_0000000091;Note=C99
P05067688736672713ChainID=PRO_0000000092;Note=Amyloid-beta protein 42
P05067688736672711ChainID=PRO_0000000093;Note=Amyloid-beta protein 40
P05067688736688770ChainID=PRO_0000000094;Note=C83
P05067688736691770ChainID=PRO_0000384574;Note=C80
P05067688736712770ChainID=PRO_0000000097;Note=Gamma-secretase C-terminal fragment 59
P05067688736714770ChainID=PRO_0000000098;Note=Gamma-secretase C-terminal fragment 57
P05067688736721770ChainID=PRO_0000000099;Note=Gamma-secretase C-terminal fragment 50;Ontology_term=ECO:0000250;evidence=ECO:0000250
P05067688736729729Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08592
P05067688736730730Modified residueNote=Phosphoserine%3B by APP-kinase I;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08592
P05067688736724734MotifNote=Basolateral sorting signal
P05067688736704704MutagenesisNote=Reduced protein oxidation. No hippocampal neuron toxicity. G->V
P05067688736706706MutagenesisNote=Reduced lipid peroxidation inhibition. M->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10535332,ECO:0000269|PubMed:9168929;Dbxref=PMID:10535332,PMID:9168929
P05067688736706706MutagenesisNote=No free radical production. No hippocampal neuron toxicity. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10535332,ECO:0000269|PubMed:9168929;Dbxref=PMID:10535332,PMID:9168929
P05067688736717717MutagenesisNote=Unchanged amyloid-beta protein 42/total amyloid-beta ratio. V->C%2CS;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Increased amyloid-beta protein 42/40 ratio. V->F%2CG%2CI;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Decreased amyloid-beta protein 42/total amyloid-beta ratio. V->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736717717MutagenesisNote=Increased amyloid-beta protein 42/40 ratio. No change in apoptosis after caspase cleavage. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:8886002;Dbxref=PMID:11063718,PMID:8886002
P05067688736728728MutagenesisNote=No effect on APBA1 nor APBB1 binding. Greatly reduces the binding to APPBP2. APP internalization unchanged. No change in amyloid-beta protein 42 secretion. Y->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10383380,EC
P05067688736692692Natural variantID=VAR_000016;Note=In AD1%3B Flemish mutation%3B increases the solubility of processed amyloid-beta peptides and increases the stability of peptide oligomers. A->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11311152,ECO:
P05067688736693693Natural variantID=VAR_014215;Note=In AD1. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11528419,ECO:0000269|PubMed:1415269;Dbxref=dbSNP:rs63751039,PMID:11528419,PMID:1415269
P05067688736693693Natural variantID=VAR_014216;Note=In CAA-APP%3B Italian type. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20697050;Dbxref=dbSNP:rs63750579,PMID:20697050
P05067688736693693Natural variantID=VAR_000017;Note=In CAA-APP%3B Dutch type. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2111584;Dbxref=dbSNP:rs63750579,PMID:2111584
P05067688736694694Natural variantID=VAR_014217;Note=In CAA-APP%3B Iowa type. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11409420,ECO:0000269|PubMed:12654973;Dbxref=dbSNP:rs63749810,PMID:11409420,PMID:12654973
P05067688736705705Natural variantID=VAR_032276;Note=In CAA-APP%3B Italian type. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16178030;Dbxref=dbSNP:rs63750921,PMID:16178030
P05067688736713713Natural variantID=VAR_000019;Note=In AD1. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1303275,ECO:0000269|PubMed:15365148;Dbxref=dbSNP:rs63750066,PMID:1303275,PMID:15365148
P05067688736713713Natural variantID=VAR_000018;Note=In one chronic schizophrenia patient%3B unknown pathological significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1307241;Dbxref=dbSNP:rs1800557,PMID:1307241
P05067688736714714Natural variantID=VAR_032277;Note=In AD1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12034808;Dbxref=dbSNP:rs63750643,PMID:12034808
P05067688736714714Natural variantID=VAR_014218;Note=In AD1%3B increased amyloid-beta protein 42/40 ratio. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063718,ECO:0000269|PubMed:15668448;Dbxref=dbSNP:rs63750973,PMID:11063718,PMID:15668448
P05067688736715715Natural variantID=VAR_010108;Note=In AD1%3B decreased amyloid-beta protein 40/total amyloid-beta. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10097173;Dbxref=dbSNP:rs63750734,PMID:10097173
P05067688736716716Natural variantID=VAR_000020;Note=In AD1. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9328472;Dbxref=dbSNP:rs63750399,PMID:9328472
P05067688736717717Natural variantID=VAR_000023;Note=In AD1. V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1925564,ECO:0000269|PubMed:8267572,ECO:0000269|PubMed:8290042,ECO:0000269|PubMed:8476439;Dbxref=dbSNP:rs63750264,PMID:1925564,PMID:82
P05067688736717717Natural variantID=VAR_000022;Note=In AD1. V->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1944558,ECO:0000269|PubMed:8476439;Dbxref=dbSNP:rs63749964,PMID:1944558,PMID:8476439
P05067688736717717Natural variantID=VAR_000021;Note=In AD1. V->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631141,ECO:0000269|PubMed:1671712,ECO:0000269|PubMed:1678058,ECO:0000269|PubMed:1908231,ECO:000
P05067688736717717Natural variantID=VAR_014219;Note=In AD1. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10867787;Dbxref=dbSNP:rs63750264,PMID:10867787
P05067688736723723Natural variantID=VAR_010109;Note=In AD1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10665499;Dbxref=dbSNP:rs63751122,PMID:10665499
P05067688736688713PeptideID=PRO_0000000095;Note=P3(42)
P05067688736688711PeptideID=PRO_0000000096;Note=P3(40)
P05067688736732751RegionNote=Interaction with G(o)-alpha
P05067688736724724Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736724724Sequence conflictNote=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736731731Sequence conflictNote=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736687688SiteNote=Cleavage%3B by alpha-secretase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736690691SiteNote=Cleavage%3B by theta-secretase;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16816112;Dbxref=PMID:16816112
P05067688736704704SiteNote=Implicated in free radical propagation;Ontology_term=ECO:0000250;evidence=ECO:0000250
P05067688736706706SiteNote=Susceptible to oxidation;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10535332;Dbxref=PMID:10535332
P05067688736711712SiteNote=Cleavage%3B by gamma-secretase%3B site 1;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736713714SiteNote=Cleavage%3B by gamma-secretase%3B site 2;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:11851430;Dbxref=PMID:11851430
P05067688736720721SiteNote=Cleavage%3B by gamma-secretase%3B site 3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11851430;Dbxref=PMID:11851430
P0506768873618701Topological domainNote=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736723770Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305
P05067688736702722TransmembraneNote=Helical;Ontology_term=ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:22584060,ECO:0000305|PubMed:22654059;Dbxref=PMID:22584060,PMID:22654059
P05067688736695698TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MVI


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

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 APP

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 APP

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
ADstageROSMAPPCCexon_skip_2757423.065954e-014.650000e-06chr21-259823442598247726000015260001822602184026021869
CDRMSBBIFGexon_skip_287404.518617e-011.578199e-02chr21-259823442598247726000015260001822602184026022042
CDRMSBBSTGexon_skip_30936-3.316122e-011.165883e-03chr21-258976572589767325905024259050772591174125911962

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

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

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Correlation with RNA binding proteins (RBPs) for APP

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBFOX2exon_skip_25558-5.263641e-011.034468e-12
CBFXR2exon_skip_25558-4.085549e-018.981801e-08
CBHNRNPKexon_skip_25558-5.741012e-012.549990e-15
CBPCBP2exon_skip_25558-5.509068e-015.315593e-14
CBNUP42exon_skip_25558-5.898741e-012.808897e-16
CBRALYLexon_skip_25558-6.219027e-012.158601e-18
CBSRSF9exon_skip_25558-5.942731e-011.485844e-16
CBFXR2exon_skip_98085-4.080725e-011.641513e-07
CBHNRNPKexon_skip_98085-4.421630e-011.052070e-08
CBPCBP2exon_skip_98085-4.735499e-016.324956e-10
CBRALYLexon_skip_98085-4.541671e-013.711853e-09
CBSRSF9exon_skip_98085-4.153650e-019.353583e-08
DLPFCRBFOX2exon_skip_246290-6.904653e-016.809142e-36
DLPFCSFPQexon_skip_246290-4.217496e-016.085271e-12
DLPFCRBM5exon_skip_246290-4.517047e-011.137811e-13
DLPFCTRNAU1APexon_skip_246290-4.197205e-017.857955e-12
DLPFCFXR2exon_skip_246290-5.550943e-014.020646e-21
DLPFCPCBP1exon_skip_246290-4.222426e-015.717326e-12
DLPFCPCBP4exon_skip_246290-4.378864e-017.488682e-13
DLPFCRBM24exon_skip_246290-4.719468e-016.146509e-15
DLPFCNUP42exon_skip_246290-4.383414e-017.047694e-13
DLPFCRALYLexon_skip_246290-5.247469e-011.147941e-18
DLPFCSRSF9exon_skip_246290-4.726969e-015.495874e-15
DLPFCYBX2exon_skip_246290-5.413915e-015.544247e-20
FLHNRNPKexon_skip_27488-4.432020e-015.546046e-11
HCCSFPQexon_skip_274884.868732e-011.178224e-17
HCCRBFOX2exon_skip_152012-5.458811e-011.330825e-22
HCCSRSF4exon_skip_1520124.957021e-012.458680e-18
HCCHNRNPFexon_skip_1520124.915462e-015.169899e-18
HCCZC3H10exon_skip_1520124.396213e-012.497290e-14
HCCRBM4Bexon_skip_1520124.532964e-013.069770e-15
IFGTARDBPexon_skip_287404.283384e-012.296095e-02
IFGCNOT4exon_skip_287404.096982e-013.037717e-02
IFGRBM5exon_skip_287405.507993e-012.386241e-03
IFGTRA2Aexon_skip_287404.986298e-016.917712e-03
IFGSRSF4exon_skip_287404.250807e-012.413775e-02
IFGRBFOX2exon_skip_89430-4.793435e-019.852872e-03
IFGPCBP4exon_skip_894304.291030e-012.269164e-02
IFGRALYLexon_skip_89430-4.296521e-012.249985e-02
PCCSFPQexon_skip_800474.596142e-011.235746e-12
PCCRBFOX2exon_skip_275742-6.814633e-011.056076e-30
PCCHNRNPFexon_skip_2757424.341051e-012.713795e-11
PGHNRNPKexon_skip_27488-4.853778e-011.631114e-13
PGTARDBPexon_skip_28740-4.935264e-015.535081e-14
PGRBFOX2exon_skip_28740-7.103926e-018.452940e-33
PGPABPN1exon_skip_28740-4.507210e-011.190027e-11
PGSFPQexon_skip_28740-4.532763e-018.815263e-12
PGRBM5exon_skip_28740-5.032120e-011.474988e-14
PGTRNAU1APexon_skip_28740-4.997710e-012.370893e-14
PGFXR2exon_skip_28740-5.674253e-017.262159e-19
PGPCBP1exon_skip_28740-4.345686e-017.493821e-11
PGHNRNPKexon_skip_28740-5.652358e-011.055919e-18
PGPCBP2exon_skip_28740-5.112282e-014.781043e-15
PGRBM24exon_skip_28740-6.400192e-015.104878e-25
PGNUP42exon_skip_28740-5.601856e-012.477695e-18
PGRALYLexon_skip_28740-7.109198e-017.243624e-33
PGSRSF9exon_skip_28740-5.652243e-011.057981e-18
PGRBM4Bexon_skip_28740-4.800289e-013.265088e-13
PGRBFOX2exon_skip_89430-5.547253e-019.417845e-16
PGFXR2exon_skip_89430-4.206661e-015.023179e-09
PGRBM24exon_skip_89430-4.566546e-011.486718e-10
PGRALYLexon_skip_89430-5.400321e-017.295446e-15
STGTARDBPexon_skip_28740-5.001981e-013.304589e-07
STGRBFOX2exon_skip_28740-4.963732e-014.191811e-07
STGRBM24exon_skip_28740-5.192151e-019.693047e-08
STGNUP42exon_skip_28740-4.814637e-011.030957e-06
STGRALYLexon_skip_28740-5.569890e-016.704951e-09
TCRBFOX2exon_skip_25558-8.345388e-019.438785e-43
TCFXR2exon_skip_25558-4.285335e-011.574786e-08
TCHNRNPKexon_skip_25558-4.132961e-015.583039e-08
TCRBM24exon_skip_25558-7.287704e-018.950579e-28
TCNUP42exon_skip_25558-7.233407e-013.366211e-27
TCRALYLexon_skip_25558-8.352529e-016.910737e-43
TCYBX2exon_skip_25558-4.034461e-011.224424e-07
TCRBFOX2exon_skip_98085-6.024319e-013.535676e-17
TCRBM24exon_skip_98085-4.677240e-014.492076e-10
TCNUP42exon_skip_98085-5.705503e-013.375551e-15
TCRALYLexon_skip_98085-6.086805e-011.361874e-17

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RelatedDrugs for APP

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P05067approved|investigationalDB00746Deferoxaminesmall moleculeP05067
P05067approved|investigationalDB01593Zincsmall moleculeP05067
P05067approvedDB06782Dimercaprolsmall moleculeP05067
P05067approvedDB09148Florbetaben (18F)small moleculeP05067
P05067approved|investigationalDB09149Florbetapir (18F)small moleculeP05067
P05067approved|investigationalDB09151Flutemetamol (18F)small moleculeP05067
P05067approved|investigationalDB14487Zinc acetatesmall moleculeP05067
P05067approved|investigationalDB14517Aluminium phosphatesmall moleculeP05067
P05067approved|investigationalDB14533Zinc chloridesmall moleculeP05067

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RelatedDiseases for APP

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