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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for AP3B1 |
Gene summary |
Gene information | Gene symbol | AP3B1 | Gene ID | 8546 |
Gene name | adaptor related protein complex 3 subunit beta 1 | |
Synonyms | ADTB3|ADTB3A|HPS|HPS2|PE | |
Cytomap | 5q14.1 | |
Type of gene | protein-coding | |
Description | AP-3 complex subunit beta-1AP-3 complex beta-3A subunitadaptor protein complex AP-3 subunit beta-1adaptor related protein complex 3 beta 1 subunitbeta-3A-adaptinclathrin assembly protein complex 3 beta-1 large chain | |
Modification date | 20200313 | |
UniProtAcc | ||
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 AP3B1 |
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. |
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 |
CB | DOWN | ENST00000522901.1 | AP3B1-207:protein_coding:AP3B1 | 1.343980e+02 | -9.227888e-01 | 1.673574e-07 | 3.281108e-06 |
CB | UP | ENST00000523204.1 | AP3B1-208:lncRNA:AP3B1 | 9.328322e-01 | 1.626817e+00 | 1.827860e-04 | 1.233048e-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 AP3B1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_137813 | chr5 | 78216055:78216237:78225542:78225608:78227372:78227532 | 78225542:78225608 |
exon_skip_145969 | chr5 | 78129121:78129307:78141143:78141319:78156258:78156367 | 78141143:78141319 |
exon_skip_243498 | chr5 | 78002995:78003055:78015410:78015548:78020692:78020789 | 78015410:78015548 |
exon_skip_279997 | chr5 | 78165610:78165672:78175626:78175697:78175784:78175838 | 78175626:78175697 |
exon_skip_57990 | chr5 | 78015410:78015548:78020692:78020789:78034361:78034445 | 78020692:78020789 |
exon_skip_59073 | chr5 | 78141143:78141319:78156258:78156367:78162819:78162951 | 78156258:78156367 |
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 AP3B1 |
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 |
ENST00000255194 | 78015410 | 78015548 | Frame-shift |
ENST00000255194 | 78225542 | 78225608 | Frame-shift |
ENST00000255194 | 78141143 | 78141319 | In-frame |
ENST00000255194 | 78175626 | 78175697 | 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 |
ENST00000255194 | 78015410 | 78015548 | Frame-shift |
ENST00000255194 | 78156258 | 78156367 | Frame-shift |
ENST00000255194 | 78225542 | 78225608 | Frame-shift |
ENST00000255194 | 78141143 | 78141319 | 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 |
ENST00000255194 | 78015410 | 78015548 | Frame-shift |
ENST00000255194 | 78020692 | 78020789 | Frame-shift |
ENST00000255194 | 78225542 | 78225608 | Frame-shift |
ENST00000255194 | 78141143 | 78141319 | In-frame |
ENST00000255194 | 78175626 | 78175697 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP3B1 |
p-ENSG00000132842_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 |
ENST00000255194 | 5855 | 1094 | 78175626 | 78175697 | 1272 | 1342 | 365 | 388 |
ENST00000255194 | 5855 | 1094 | 78141143 | 78141319 | 1650 | 1825 | 491 | 549 |
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 |
ENST00000255194 | 5855 | 1094 | 78141143 | 78141319 | 1650 | 1825 | 491 | 549 |
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 |
ENST00000255194 | 5855 | 1094 | 78175626 | 78175697 | 1272 | 1342 | 365 | 388 |
ENST00000255194 | 5855 | 1094 | 78141143 | 78141319 | 1650 | 1825 | 491 | 549 |
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 |
O00203 | 365 | 388 | 1 | 1094 | Chain | ID=PRO_0000193746;Note=AP-3 complex subunit beta-1 |
O00203 | 365 | 388 | 379 | 379 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
O00203 | 491 | 549 | 1 | 1094 | Chain | ID=PRO_0000193746;Note=AP-3 complex subunit beta-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 |
O00203 | 491 | 549 | 1 | 1094 | Chain | ID=PRO_0000193746;Note=AP-3 complex subunit beta-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 |
O00203 | 365 | 388 | 1 | 1094 | Chain | ID=PRO_0000193746;Note=AP-3 complex subunit beta-1 |
O00203 | 365 | 388 | 379 | 379 | Sequence conflict | Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
O00203 | 491 | 549 | 1 | 1094 | Chain | ID=PRO_0000193746;Note=AP-3 complex subunit beta-1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP3B1 |
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 AP3B1 |
- 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 AP3B1 |
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 AP3B1 |
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 AP3B1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | MSI1 | exon_skip_59872 | -4.577794e-01 | 1.634741e-02 |
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RelatedDrugs for AP3B1 |
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 AP3B1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |