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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 AP2B1 |
 Gene summary |
| Gene information | Gene symbol | AP2B1 | Gene ID | 163 |
| Gene name | adaptor related protein complex 2 subunit beta 1 | |
| Synonyms | ADTB2|AP105B|AP2-BETA|CLAPB1 | |
| Cytomap | 17q12 | |
| Type of gene | protein-coding | |
| Description | AP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related prote | |
| Modification date | 20200327 | |
| UniProtAcc | A0A087WU93, A0A087WXS3, A0A087WYD1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AP2B1 | GO:0072583 | clathrin-dependent endocytosis | 23676497 |
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Gene structures and expression levels for AP2B1 |
| 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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ENSG00000006125
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000616784.4 | AP2B1-216:protein_coding:AP2B1 | 1.878095e+00 | 1.076390e+00 | 2.133318e-03 | 9.722199e-03 |
| CB | UP | ENST00000620039.4 | AP2B1-219:nonsense_mediated_decay:AP2B1 | 2.821622e+00 | 9.415322e-01 | 1.041767e-02 | 3.595303e-02 |
| 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 AP2B1 |
| 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_107532 | chr17 | 35598295:35598335:35600986:35601071:35605705:35605766 | 35600986:35601071 |
| exon_skip_115209 | chr17 | 35598286:35598335:35600937:35601071:35605705:35605766 | 35600937:35601071 |
| exon_skip_120594 | chr17 | 35598230:35598335:35600986:35601071:35605705:35605840 | 35600986:35601071 |
| exon_skip_161915 | chr17 | 35650603:35650789:35650914:35651005:35657599:35657615 | 35650914:35651005 |
| exon_skip_180572 | chr17 | 35598230:35598335:35600986:35601071:35605705:35605766 | 35600986:35601071 |
| exon_skip_185236 | chr17 | 35627631:35627726:35636341:35636456:35639595:35639760 | 35636341:35636456 |
| exon_skip_256754 | chr17 | 35657757:35657791:35670857:35670898:35671754:35671900 | 35670857:35670898 |
| exon_skip_39489 | chr17 | 35598295:35598335:35600937:35601071:35605705:35605766 | 35600937:35601071 |
| exon_skip_40968 | chr17 | 35598230:35598335:35600937:35601071:35605705:35605766 | 35600937:35601071 |
| exon_skip_58310 | chr17 | 35598286:35598335:35600986:35601071:35605705:35605766 | 35600986:35601071 |
| exon_skip_84619 | chr17 | 35587322:35587428:35594008:35594067:35598230:35598335 | 35594008:35594067 |
| exon_skip_93130 | chr17 | 35657599:35657791:35670857:35670898:35671754:35671900 | 35670857:35670898 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_93130 | MSBB_PG | 6.995620e-01 | 8.008929e-01 | -1.013308e-01 | 1.341922e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for AP2B1 |
| 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 |
| ENST00000621914 | 35594008 | 35594067 | 5CDS-5UTR |
| 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 |
| ENST00000621914 | 35594008 | 35594067 | 5CDS-5UTR |
| 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 |
| ENST00000621914 | 35594008 | 35594067 | 5CDS-5UTR |
| ENST00000621914 | 35636341 | 35636456 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AP2B1 |
p-ENSG00000006125_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP2B1 |
| 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 AP2B1 |
| - 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 AP2B1 |
| 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 |
| ADstage | ROSMAP | PCC | exon_skip_93130 | -3.414197e-01 | 2.870000e-07 | chr17 | + | 35657599 | 35657791 | 35670857 | 35670898 | 35671754 | 35671900 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP2B1 |
| 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 AP2B1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM25 | exon_skip_93130 | 4.335366e-01 | 1.413562e-08 |
| CB | SRSF9 | exon_skip_93130 | 5.359741e-01 | 4.699915e-13 |
| CB | RBM4 | exon_skip_93130 | -4.008960e-01 | 1.961112e-07 |
| FL | ILF2 | exon_skip_93130 | 5.481322e-01 | 6.363717e-17 |
| FL | SRSF1 | exon_skip_93130 | 4.123180e-01 | 1.582121e-09 |
| FL | SRSF9 | exon_skip_93130 | 5.146007e-01 | 8.807097e-15 |
| FL | ESRP1 | exon_skip_93130 | 4.167025e-01 | 1.018805e-09 |
| HCC | ZNF326 | exon_skip_93130 | -5.622704e-01 | 3.707659e-24 |
| HCC | HNRNPA2B1 | exon_skip_93130 | -4.843618e-01 | 1.824907e-17 |
| HCC | RBM4 | exon_skip_93130 | -5.467621e-01 | 1.103305e-22 |
| HCC | RBM4B | exon_skip_93130 | -5.618022e-01 | 4.118382e-24 |
| PCC | ZNF326 | exon_skip_93130 | -4.650618e-01 | 6.175662e-13 |
| PG | ILF2 | exon_skip_93130 | 4.814350e-01 | 1.364734e-12 |
| STG | SRSF9 | exon_skip_93130 | 4.596114e-01 | 4.050683e-06 |
| TC | RBM25 | exon_skip_256754 | 4.389404e-01 | 6.395790e-09 |
| TC | ILF2 | exon_skip_256754 | 5.215915e-01 | 1.524997e-12 |
| TC | ESRP1 | exon_skip_256754 | 5.174568e-01 | 2.446072e-12 |
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RelatedDrugs for AP2B1 |
| 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 AP2B1 |
| 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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