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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for AP2A1 |
 Gene summary |
| Gene information | Gene symbol | AP2A1 | Gene ID | 160 |
| Gene name | adaptor related protein complex 2 subunit alpha 1 | |
| Synonyms | ADTAA|AP2-ALPHA|CLAPA1 | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | AP-2 complex subunit alpha-1100 kDa coated vesicle protein Aadapter-related protein complex 2 alpha-1 subunitadapter-related protein complex 2 subunit alpha-1adaptin, alpha Aadaptor protein complex AP-2 subunit alpha-1adaptor related protein complex | |
| Modification date | 20200313 | |
| UniProtAcc | M0R2D9, O95782, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AP2A1 | GO:0072583 | clathrin-dependent endocytosis | 23676497 |
| AP2A1 | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 24251095 |
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Gene structures and expression levels for AP2A1 |
| Skipped 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. |
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ENSG00000196961
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AP2A1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_113776 | chr19 | 49800097:49800150:49800961:49801058:49801390:49801621 | 49800961:49801058 |
| exon_skip_168050 | chr19 | 49795630:49795738:49798802:49798952:49799327:49799495 | 49798802:49798952 |
| exon_skip_219001 | chr19 | 49802949:49803005:49803107:49803189:49803287:49803376 | 49803107:49803189 |
| exon_skip_241273 | chr19 | 49802020:49802141:49802534:49802599:49802949:49803005 | 49802534:49802599 |
| exon_skip_275304 | chr19 | 49801981:49802141:49802534:49802599:49802949:49803005 | 49802534:49802599 |
| exon_skip_281764 | chr19 | 49800961:49801058:49801390:49801621:49801722:49801733 | 49801390:49801621 |
| exon_skip_90770 | chr19 | 49802534:49802599:49802949:49803005:49803107:49803189 | 49802949:49803005 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for AP2A1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359032 | 49803107 | 49803189 | Frame-shift |
| ENST00000359032 | 49802534 | 49802599 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359032 | 49802534 | 49802599 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359032 | 49798802 | 49798952 | Frame-shift |
| ENST00000359032 | 49800961 | 49801058 | Frame-shift |
| ENST00000359032 | 49801390 | 49801621 | Frame-shift |
| ENST00000359032 | 49802534 | 49802599 | In-frame |
| ENST00000359032 | 49802949 | 49803005 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP2A1 |
p-ENSG00000196961_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000359032 | 3303 | 977 | 49802534 | 49802599 | 2116 | 2180 | 705 | 726 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000359032 | 3303 | 977 | 49802534 | 49802599 | 2116 | 2180 | 705 | 726 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000359032 | 3303 | 977 | 49802534 | 49802599 | 2116 | 2180 | 705 | 726 |
| ENST00000359032 | 3303 | 977 | 49802949 | 49803005 | 2182 | 2237 | 727 | 745 |
| 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 feature | Description of feature |
| O95782 | 705 | 726 | 706 | 727 | Alternative sequence | ID=VSP_000161;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| O95782 | 705 | 726 | 1 | 977 | Chain | ID=PRO_0000193730;Note=AP-2 complex subunit alpha-1 |
| 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 feature | Description of feature |
| O95782 | 705 | 726 | 706 | 727 | Alternative sequence | ID=VSP_000161;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| O95782 | 705 | 726 | 1 | 977 | Chain | ID=PRO_0000193730;Note=AP-2 complex subunit alpha-1 |
| 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 feature | Description of feature |
| O95782 | 705 | 726 | 706 | 727 | Alternative sequence | ID=VSP_000161;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| O95782 | 705 | 726 | 1 | 977 | Chain | ID=PRO_0000193730;Note=AP-2 complex subunit alpha-1 |
| O95782 | 727 | 745 | 706 | 727 | Alternative sequence | ID=VSP_000161;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| O95782 | 727 | 745 | 1 | 977 | Chain | ID=PRO_0000193730;Note=AP-2 complex subunit alpha-1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP2A1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for AP2A1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for AP2A1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP2A1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AP2A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| HCC | RBM6 | exon_skip_275304 | -4.471192e-01 | 8.965961e-15 |
| PCC | RBM6 | exon_skip_241273 | -4.157153e-01 | 2.885704e-10 |
| PG | TARDBP | exon_skip_275304 | 4.061498e-01 | 1.192075e-07 |
| PG | MBNL1 | exon_skip_275304 | 4.075483e-01 | 1.068352e-07 |
| PG | PCBP1 | exon_skip_275304 | 4.084014e-01 | 9.990290e-08 |
| PG | HNRNPK | exon_skip_275304 | 4.631184e-01 | 8.948824e-10 |
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RelatedDrugs for AP2A1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AP2A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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