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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 AP3B2 |
 Gene summary |
| Gene information | Gene symbol | AP3B2 | Gene ID | 8120 |
| Gene name | adaptor related protein complex 3 subunit beta 2 | |
| Synonyms | EIEE48|NAPTB | |
| Cytomap | 15q25.2 | |
| Type of gene | protein-coding | |
| Description | AP-3 complex subunit beta-2Neuronal adaptin-like protein, beta-subunitadaptor protein complex AP-3 subunit beta-2adaptor related protein complex 3 beta 2 subunitbeta-3B-adaptinclathrin assembly protein complex 3 beta-2 large chainneuron-specific ves | |
| Modification date | 20200320 | |
| UniProtAcc | A0A2R8Y2A8, A0A590UJ44, A0A590UJ60, A0A590UJ88, A0A590UJE5, A0A590UJS5, A0A590UJU0, A0A590UJU7, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for AP3B2 |
| 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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ENSG00000103723
| 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 |
| PG | DOWN | ENST00000660624.1 | AP3B2-218:protein_coding:AP3B2 | 9.245223e+01 | -8.411893e-01 | 4.870753e-04 | 8.674605e-03 |
| CB | UP | ENST00000664460.1 | AP3B2-221:protein_coding:AP3B2 | 9.794326e+01 | 8.097663e-01 | 2.211772e-09 | 8.439327e-08 |
| CB | UP | ENST00000666672.1 | AP3B2-224:retained_intron:AP3B2 | 1.034869e+01 | 8.205295e-01 | 1.292536e-05 | 1.308340e-04 |
| CB | UP | ENST00000669930.1 | AP3B2-232:protein_coding:AP3B2 | 2.347950e+01 | 9.929353e-01 | 4.353420e-04 | 2.562071e-03 |
| 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 AP3B2 |
| 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_150739 | chr15 | 82665457:82665575:82665860:82665984:82666747:82666933 | 82665860:82665984 |
| exon_skip_151529 | chr15 | 82661825:82661922:82662168:82662252:82663127:82663233 | 82662168:82662252 |
| exon_skip_156562 | chr15 | 82662168:82662252:82662694:82662922:82663127:82663157 | 82662694:82662922 |
| exon_skip_163864 | chr15 | 82681420:82681580:82688020:82688096:82688736:82688831 | 82688020:82688096 |
| exon_skip_165447 | chr15 | 82681420:82681580:82689158:82689232:82689378:82689453 | 82689158:82689232 |
| exon_skip_188246 | chr15 | 82681112:82681178:82681420:82681580:82689378:82689453 | 82681420:82681580 |
| exon_skip_196849 | chr15 | 82663801:82663975:82664367:82664490:82664835:82664943 | 82664367:82664490 |
| exon_skip_228423 | chr15 | 82662168:82662252:82662694:82662922:82663127:82663620 | 82662694:82662922 |
| exon_skip_236452 | chr15 | 82681112:82681178:82681420:82681580:82689158:82689232 | 82681420:82681580 |
| exon_skip_24802 | chr15 | 82662168:82662252:82662694:82662922:82663127:82663233 | 82662694:82662922 |
| exon_skip_25233 | chr15 | 82678105:82678167:82679729:82679800:82680175:82680229 | 82679729:82679800 |
| exon_skip_255896 | chr15 | 82663801:82663975:82664367:82664555:82664835:82664943 | 82664367:82664555 |
| exon_skip_262609 | chr15 | 82661825:82661922:82662168:82662922:82663127:82663233 | 82662168:82662922 |
| exon_skip_263634 | chr15 | 82680897:82681019:82681112:82681178:82681420:82681497 | 82681112:82681178 |
| exon_skip_281220 | chr15 | 82663127:82663295:82663560:82663620:82663801:82663975 | 82663560:82663620 |
| exon_skip_281251 | chr15 | 82659674:82659710:82659845:82659983:82661825:82661922 | 82659845:82659983 |
| exon_skip_283827 | chr15 | 82681420:82681580:82688736:82688831:82688988:82689112 | 82688736:82688831 |
| exon_skip_293765 | chr15 | 82689378:82689453:82701548:82701630:82708772:82708851 | 82701548:82701630 |
| exon_skip_295861 | chr15 | 82677671:82677803:82678105:82678167:82679729:82679800 | 82678105:82678167 |
| exon_skip_31328 | chr15 | 82681420:82681580:82688736:82689232:82689378:82689453 | 82688736:82689232 |
| exon_skip_45436 | chr15 | 82677274:82677383:82677671:82677803:82678105:82678167 | 82677671:82677803 |
| exon_skip_68955 | chr15 | 82664835:82664943:82665247:82665303:82665457:82665575 | 82665247:82665303 |
| exon_skip_70160 | chr15 | 82665457:82665575:82665860:82665984:82666747:82666825 | 82665860:82665984 |
| exon_skip_78330 | chr15 | 82659367:82659710:82659845:82659983:82661825:82661922 | 82659845:82659983 |
| exon_skip_90674 | chr15 | 82661825:82661922:82662168:82662252:82662694:82662922 | 82662168:82662252 |
| exon_skip_98040 | chr15 | 82681420:82681580:82688736:82688831:82689158:82689232 | 82688736:82688831 |
| 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 AP3B2 |
| 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 |
| ENST00000261722 | 82659845 | 82659983 | Frame-shift |
| ENST00000620652 | 82659845 | 82659983 | Frame-shift |
| ENST00000261722 | 82662168 | 82662252 | Frame-shift |
| ENST00000620652 | 82662168 | 82662252 | Frame-shift |
| ENST00000261722 | 82662694 | 82662922 | Frame-shift |
| ENST00000620652 | 82662694 | 82662922 | Frame-shift |
| ENST00000261722 | 82664367 | 82664490 | Frame-shift |
| ENST00000620652 | 82664367 | 82664490 | Frame-shift |
| ENST00000261722 | 82677671 | 82677803 | Frame-shift |
| ENST00000620652 | 82677671 | 82677803 | Frame-shift |
| ENST00000261722 | 82679729 | 82679800 | In-frame |
| ENST00000620652 | 82679729 | 82679800 | In-frame |
| ENST00000261722 | 82688736 | 82688831 | In-frame |
| ENST00000620652 | 82688736 | 82688831 | 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 |
| ENST00000261722 | 82662694 | 82662922 | Frame-shift |
| ENST00000620652 | 82662694 | 82662922 | Frame-shift |
| ENST00000261722 | 82664367 | 82664490 | Frame-shift |
| ENST00000620652 | 82664367 | 82664490 | Frame-shift |
| ENST00000261722 | 82688736 | 82688831 | In-frame |
| ENST00000620652 | 82688736 | 82688831 | 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 |
| ENST00000261722 | 82662168 | 82662252 | Frame-shift |
| ENST00000620652 | 82662168 | 82662252 | Frame-shift |
| ENST00000261722 | 82662694 | 82662922 | Frame-shift |
| ENST00000620652 | 82662694 | 82662922 | Frame-shift |
| ENST00000261722 | 82664367 | 82664490 | Frame-shift |
| ENST00000620652 | 82664367 | 82664490 | Frame-shift |
| ENST00000261722 | 82677671 | 82677803 | Frame-shift |
| ENST00000620652 | 82677671 | 82677803 | Frame-shift |
| ENST00000261722 | 82681112 | 82681178 | Frame-shift |
| ENST00000620652 | 82681112 | 82681178 | Frame-shift |
| ENST00000261722 | 82678105 | 82678167 | In-frame |
| ENST00000620652 | 82678105 | 82678167 | In-frame |
| ENST00000261722 | 82679729 | 82679800 | In-frame |
| ENST00000620652 | 82679729 | 82679800 | In-frame |
| ENST00000261722 | 82688736 | 82688831 | In-frame |
| ENST00000620652 | 82688736 | 82688831 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP3B2 |
p-ENSG00000103723_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 |
| ENST00000261722 | 3753 | 1082 | 82688736 | 82688831 | 473 | 567 | 88 | 119 |
| ENST00000620652 | 3746 | 1082 | 82688736 | 82688831 | 467 | 561 | 88 | 119 |
| ENST00000261722 | 3753 | 1082 | 82679729 | 82679800 | 1319 | 1389 | 370 | 393 |
| ENST00000620652 | 3746 | 1082 | 82679729 | 82679800 | 1313 | 1383 | 370 | 393 |
| 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 |
| ENST00000261722 | 3753 | 1082 | 82688736 | 82688831 | 473 | 567 | 88 | 119 |
| ENST00000620652 | 3746 | 1082 | 82688736 | 82688831 | 467 | 561 | 88 | 119 |
| 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 |
| ENST00000261722 | 3753 | 1082 | 82688736 | 82688831 | 473 | 567 | 88 | 119 |
| ENST00000620652 | 3746 | 1082 | 82688736 | 82688831 | 467 | 561 | 88 | 119 |
| ENST00000261722 | 3753 | 1082 | 82679729 | 82679800 | 1319 | 1389 | 370 | 393 |
| ENST00000620652 | 3746 | 1082 | 82679729 | 82679800 | 1313 | 1383 | 370 | 393 |
| ENST00000261722 | 3753 | 1082 | 82678105 | 82678167 | 1391 | 1452 | 394 | 414 |
| ENST00000620652 | 3746 | 1082 | 82678105 | 82678167 | 1385 | 1446 | 394 | 414 |
| 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 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 370 | 393 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 370 | 393 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 370 | 393 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 370 | 393 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| 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 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| 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 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 89 | 120 | Alternative sequence | ID=VSP_054918;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 88 | 119 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 370 | 393 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 370 | 393 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 370 | 393 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 370 | 393 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 394 | 414 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 394 | 414 | 1 | 937 | Alternative sequence | ID=VSP_043905;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17453999;Dbxref=PMID:17453999 |
| Q13367 | 394 | 414 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
| Q13367 | 394 | 414 | 1 | 1082 | Chain | ID=PRO_0000193748;Note=AP-3 complex subunit beta-2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP3B2 |
| 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 AP3B2 |
| - 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 AP3B2 |
| 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 AP3B2 |
| 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 AP3B2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_98040 | -4.979779e-01 | 3.730517e-11 |
| CB | TRA2A | exon_skip_98040 | -4.675038e-01 | 7.607031e-10 |
| CB | RBM45 | exon_skip_98040 | 6.896793e-01 | 2.377758e-23 |
| CB | NUP42 | exon_skip_98040 | 4.553571e-01 | 2.335203e-09 |
| CB | RBM4 | exon_skip_98040 | -6.617173e-01 | 5.257087e-21 |
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RelatedDrugs for AP3B2 |
| 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 AP3B2 |
| 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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