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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 AP3M1 |
 Gene summary |
| Gene information | Gene symbol | AP3M1 | Gene ID | 26985 |
| Gene name | adaptor related protein complex 3 subunit mu 1 | |
| Synonyms | - | |
| Cytomap | 10q22.2 | |
| Type of gene | protein-coding | |
| Description | AP-3 complex subunit mu-1AP-3 adapter complex mu3A subunitadapter-related protein complex 3 mu-1 subunitadaptor related protein complex 3 mu 1 subunitclathrin adaptor complex AP3, mu-3A subunitmu-adaptin 3Amu3A-adaptin | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024QZR5, Q9Y2T2, | |
| 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 AP3M1 |
| 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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ENSG00000185009
| 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 AP3M1 |
| 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_158912 | chr10 | 74138256:74138382:74138806:74138931:74150755:74150842 | 74138806:74138931 |
| exon_skip_55298 | chr10 | 74129907:74129992:74134027:74134164:74136632:74136803 | 74134027:74134164 |
| exon_skip_76542 | chr10 | 74124380:74124524:74126148:74126355:74129108:74129241 | 74126148:74126355 |
| 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 AP3M1 |
| 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 |
| ENST00000372745 | 74138806 | 74138931 | 3UTR-3UTR |
| ENST00000355264 | 74126148 | 74126355 | Frame-shift |
| ENST00000372745 | 74126148 | 74126355 | Frame-shift |
| ENST00000355264 | 74134027 | 74134164 | In-frame |
| ENST00000372745 | 74134027 | 74134164 | 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 |
| ENST00000372745 | 74138806 | 74138931 | 3UTR-3UTR |
| 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 |
| ENST00000372745 | 74138806 | 74138931 | 3UTR-3UTR |
| ENST00000355264 | 74126148 | 74126355 | Frame-shift |
| ENST00000372745 | 74126148 | 74126355 | Frame-shift |
| ENST00000355264 | 74134027 | 74134164 | In-frame |
| ENST00000372745 | 74134027 | 74134164 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP3M1 |
p-ENSG00000185009_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 |
| ENST00000355264 | 5141 | 418 | 74134027 | 74134164 | 758 | 894 | 148 | 194 |
| ENST00000372745 | 2337 | 418 | 74134027 | 74134164 | 663 | 799 | 148 | 194 |
| 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 |
| ENST00000355264 | 5141 | 418 | 74134027 | 74134164 | 758 | 894 | 148 | 194 |
| ENST00000372745 | 2337 | 418 | 74134027 | 74134164 | 663 | 799 | 148 | 194 |
| 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 |
| Q9Y2T2 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193781;Note=AP-3 complex subunit mu-1 |
| Q9Y2T2 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193781;Note=AP-3 complex subunit mu-1 |
| Q9Y2T2 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| Q9Y2T2 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| Q9Y2T2 | 148 | 194 | 160 | 160 | Sequence conflict | Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T2 | 148 | 194 | 160 | 160 | Sequence conflict | Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9Y2T2 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193781;Note=AP-3 complex subunit mu-1 |
| Q9Y2T2 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193781;Note=AP-3 complex subunit mu-1 |
| Q9Y2T2 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| Q9Y2T2 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| Q9Y2T2 | 148 | 194 | 160 | 160 | Sequence conflict | Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T2 | 148 | 194 | 160 | 160 | Sequence conflict | Note=G->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP3M1 |
| 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 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5587-5p | chr10:74138912-74138919 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-3614-5p | chr10:74138916-74138923 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5196-3p | chr10:74138826-74138833 | 8mer-1a | chr10:74138814-74138838 | 160.00 | -17.67 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-520b-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-519a-2-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-4437 | chr10:74138849-74138856 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-939-3p | chr10:74138852-74138859 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-500b-3p | chr10:74138908-74138915 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-660-3p | chr10:74138855-74138862 | 8mer-1a | chr10:74138842-74138862 | 154.00 | -16.38 |
| Mayo | ENST00000372745 | 74138806 | 74138931 | hsa-miR-504-3p | chr10:74138898-74138905 | 8mer-1a | chr10:74138891-74138908 | 159.00 | -33.68 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5587-5p | chr10:74138912-74138919 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-3614-5p | chr10:74138916-74138923 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5196-3p | chr10:74138826-74138833 | 8mer-1a | chr10:74138814-74138838 | 160.00 | -17.67 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-520b-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-519a-2-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-4437 | chr10:74138849-74138856 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-939-3p | chr10:74138852-74138859 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-500b-3p | chr10:74138908-74138915 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-660-3p | chr10:74138855-74138862 | 8mer-1a | chr10:74138842-74138862 | 154.00 | -16.38 |
| MSBB | ENST00000372745 | 74138806 | 74138931 | hsa-miR-504-3p | chr10:74138898-74138905 | 8mer-1a | chr10:74138891-74138908 | 159.00 | -33.68 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5587-5p | chr10:74138912-74138919 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-3614-5p | chr10:74138916-74138923 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-5196-3p | chr10:74138826-74138833 | 8mer-1a | chr10:74138814-74138838 | 160.00 | -17.67 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-520b-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-519a-2-5p | chr10:74138873-74138880 | 8mer-1a | chr10:74138860-74138880 | 155.00 | -19.03 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-4437 | chr10:74138849-74138856 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-939-3p | chr10:74138852-74138859 | 8mer-1a | chr10:74138837-74138860 | 150.00 | -26.30 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-500b-3p | chr10:74138908-74138915 | 8mer-1a | chr10:74138901-74138923 | 160.00 | -23.52 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-660-3p | chr10:74138855-74138862 | 8mer-1a | chr10:74138842-74138862 | 154.00 | -16.38 |
| ROSMAP | ENST00000372745 | 74138806 | 74138931 | hsa-miR-504-3p | chr10:74138898-74138905 | 8mer-1a | chr10:74138891-74138908 | 159.00 | -33.68 |
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SNVs in the skipped exons for AP3M1 |
| - Differential PSIs between mutated versus non-mutated samples. |
ENSG00000185009.exon_skip_158912.MSBB_IFG.WGS.boxplot.svg |
| - 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 AP3M1 |
| 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 AP3M1 |
| 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 AP3M1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AP3M1 |
| 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 AP3M1 |
| 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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