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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for AP3M2 |
 Gene summary |
| Gene information | Gene symbol | AP3M2 | Gene ID | 10947 |
| Gene name | adaptor related protein complex 3 subunit mu 2 | |
| Synonyms | AP47B|CLA20|P47B | |
| Cytomap | 8p11.21 | |
| Type of gene | protein-coding | |
| Description | AP-3 complex subunit mu-2HA1 47 kDa subunit homolog 2HA1 47kDA subunit homolog 2adapter-related protein complex 3 mu-2 subunitadapter-related protein complex 3 subunit mu-2adaptor related protein complex 3 mu 2 subunitclathrin assembly protein assem | |
| Modification date | 20180519 | |
| UniProtAcc | P53677 | |
| Context | PubMed: AP3M2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for AP3M2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for AP3M2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for AP3M2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483179 | 8 | 42010463:42010623:42012083:42012478:42015458:42015603 | 42012083:42012478 | ENSG00000070718.7 | ENST00000174653.3 |
| exon_skip_483181 | 8 | 42010602:42010623:42012133:42012478:42015458:42015603 | 42012133:42012478 | ENSG00000070718.7 | ENST00000396926.3,ENST00000530375.1 |
| exon_skip_483182 | 8 | 42010602:42010623:42015458:42015630:42019798:42019936 | 42015458:42015630 | ENSG00000070718.7 | ENST00000521280.1 |
| exon_skip_483183 | 8 | 42010677:42010745:42011995:42012054:42012133:42012195 | 42011995:42012054 | ENSG00000070718.7 | ENST00000521235.1 |
| exon_skip_483185 | 8 | 42011995:42012054:42012133:42012478:42015458:42015603 | 42012133:42012478 | ENSG00000070718.7 | ENST00000518421.1 |
| exon_skip_483187 | 8 | 42012133:42012478:42013496:42013557:42015458:42015603 | 42013496:42013557 | ENSG00000070718.7 | ENST00000517865.1 |
| exon_skip_483191 | 8 | 42015458:42015630:42019798:42019936:42022588:42022651 | 42019798:42019936 | ENSG00000070718.7 | ENST00000517865.1,ENST00000521280.1,ENST00000396926.3,ENST00000174653.3,ENST00000517922.1,ENST00000523249.1,ENST00000530375.1,ENST00000518421.1 |
| exon_skip_483192 | 8 | 42019798:42019936:42022588:42022674:42022944:42023078 | 42022588:42022674 | ENSG00000070718.7 | ENST00000517865.1,ENST00000521280.1,ENST00000396926.3,ENST00000174653.3,ENST00000517922.1,ENST00000530375.1,ENST00000521899.1,ENST00000518421.1 |
| exon_skip_483195 | 8 | 42022944:42023078:42024681:42024889:42025183:42025273 | 42024681:42024889 | ENSG00000070718.7 | ENST00000521280.1,ENST00000396926.3,ENST00000174653.3,ENST00000518421.1 |
| exon_skip_483196 | 8 | 42025282:42025328:42025714:42025767:42026478:42026529 | 42025714:42025767 | ENSG00000070718.7 | ENST00000522606.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AP3M2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483181 | 8 | 42010602:42010623:42012133:42012478:42015458:42015603 | 42012133:42012478 | ENSG00000070718.7 | ENST00000396926.3,ENST00000530375.1 |
| exon_skip_483182 | 8 | 42010602:42010623:42015458:42015630:42019798:42019936 | 42015458:42015630 | ENSG00000070718.7 | ENST00000521280.1 |
| exon_skip_483183 | 8 | 42010677:42010745:42011995:42012054:42012133:42012195 | 42011995:42012054 | ENSG00000070718.7 | ENST00000521235.1 |
| exon_skip_483185 | 8 | 42011995:42012054:42012133:42012478:42015458:42015603 | 42012133:42012478 | ENSG00000070718.7 | ENST00000518421.1 |
| exon_skip_483187 | 8 | 42012133:42012478:42013496:42013557:42015458:42015603 | 42013496:42013557 | ENSG00000070718.7 | ENST00000517865.1 |
| exon_skip_483191 | 8 | 42015458:42015630:42019798:42019936:42022588:42022651 | 42019798:42019936 | ENSG00000070718.7 | ENST00000518421.1,ENST00000174653.3,ENST00000517865.1,ENST00000396926.3,ENST00000521280.1,ENST00000530375.1,ENST00000517922.1,ENST00000523249.1 |
| exon_skip_483192 | 8 | 42019798:42019936:42022588:42022674:42022944:42023078 | 42022588:42022674 | ENSG00000070718.7 | ENST00000518421.1,ENST00000174653.3,ENST00000517865.1,ENST00000396926.3,ENST00000521280.1,ENST00000530375.1,ENST00000517922.1,ENST00000521899.1 |
| exon_skip_483195 | 8 | 42022944:42023078:42024681:42024889:42025183:42025273 | 42024681:42024889 | ENSG00000070718.7 | ENST00000518421.1,ENST00000174653.3,ENST00000396926.3,ENST00000521280.1 |
| exon_skip_483196 | 8 | 42025282:42025328:42025714:42025767:42026478:42026529 | 42025714:42025767 | ENSG00000070718.7 | ENST00000522606.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for AP3M2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000174653 | 42012083 | 42012478 | 5CDS-5UTR |
| ENST00000396926 | 42012133 | 42012478 | 5CDS-5UTR |
| ENST00000518421 | 42012133 | 42012478 | 5CDS-5UTR |
| ENST00000174653 | 42022588 | 42022674 | Frame-shift |
| ENST00000396926 | 42022588 | 42022674 | Frame-shift |
| ENST00000518421 | 42022588 | 42022674 | Frame-shift |
| ENST00000174653 | 42024681 | 42024889 | Frame-shift |
| ENST00000396926 | 42024681 | 42024889 | Frame-shift |
| ENST00000518421 | 42024681 | 42024889 | Frame-shift |
| ENST00000174653 | 42019798 | 42019936 | In-frame |
| ENST00000396926 | 42019798 | 42019936 | In-frame |
| ENST00000518421 | 42019798 | 42019936 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396926 | 42012133 | 42012478 | 5CDS-5UTR |
| ENST00000518421 | 42012133 | 42012478 | 5CDS-5UTR |
| ENST00000174653 | 42022588 | 42022674 | Frame-shift |
| ENST00000396926 | 42022588 | 42022674 | Frame-shift |
| ENST00000518421 | 42022588 | 42022674 | Frame-shift |
| ENST00000174653 | 42024681 | 42024889 | Frame-shift |
| ENST00000396926 | 42024681 | 42024889 | Frame-shift |
| ENST00000518421 | 42024681 | 42024889 | Frame-shift |
| ENST00000174653 | 42019798 | 42019936 | In-frame |
| ENST00000396926 | 42019798 | 42019936 | In-frame |
| ENST00000518421 | 42019798 | 42019936 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP3M2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000174653 | 3678 | 418 | 42019798 | 42019936 | 728 | 865 | 148 | 194 |
| ENST00000396926 | 3562 | 418 | 42019798 | 42019936 | 613 | 750 | 148 | 194 |
| ENST00000518421 | 3686 | 418 | 42019798 | 42019936 | 737 | 874 | 148 | 194 |
| Loci of skipped exons in GTEx 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 |
| ENST00000174653 | 3678 | 418 | 42019798 | 42019936 | 728 | 865 | 148 | 194 |
| ENST00000396926 | 3562 | 418 | 42019798 | 42019936 | 613 | 750 | 148 | 194 |
| ENST00000518421 | 3686 | 418 | 42019798 | 42019936 | 737 | 874 | 148 | 194 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 1 | 418 | Chain | ID=PRO_0000193784;Note=AP-3 complex subunit mu-2 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| P53677 | 148 | 194 | 176 | 417 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
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SNVs in the skipped exons for AP3M2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_483179 | 42012084 | 42012478 | 42012333 | 42012333 | Frame_Shift_Del | A | - | p.E43fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012333 | 42012333 | Frame_Shift_Del | A | - | p.E43fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_483179 | 42012084 | 42012478 | 42012427 | 42012427 | Frame_Shift_Del | C | - | p.V74fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012427 | 42012427 | Frame_Shift_Del | C | - | p.V74fs |
| STAD | TCGA-CG-4305-01 | exon_skip_483179 | 42012084 | 42012478 | 42012427 | 42012427 | Frame_Shift_Del | C | - | p.V74fs |
| STAD | TCGA-CG-4305-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012427 | 42012427 | Frame_Shift_Del | C | - | p.V74fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_483179 | 42012084 | 42012478 | 42012435 | 42012438 | Frame_Shift_Del | TGTT | - | p.77_78del |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_483179 | 42012084 | 42012478 | 42012435 | 42012438 | Frame_Shift_Del | TGTT | - | p.LF77fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012435 | 42012438 | Frame_Shift_Del | TGTT | - | p.77_78del |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012435 | 42012438 | Frame_Shift_Del | TGTT | - | p.LF77fs |
| THCA | TCGA-EL-A3MZ-01 | exon_skip_483182 | 42015459 | 42015630 | 42015502 | 42015514 | Frame_Shift_Del | TAGTTGTGGTTTA | - | p.VVVVY106fs |
| LIHC | TCGA-2Y-A9H0-01 | exon_skip_483182 | 42015459 | 42015630 | 42015551 | 42015558 | Frame_Shift_Del | ATTGGCTA | - | p.122_124del |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_483192 | 42022589 | 42022674 | 42022614 | 42022614 | Frame_Shift_Del | G | - | p.Q203fs |
| STAD | TCGA-BR-6452-01 | exon_skip_483195 | 42024682 | 42024889 | 42024863 | 42024864 | Frame_Shift_Del | AC | - | p.328_329del |
| STAD | TCGA-BR-6452-01 | exon_skip_483195 | 42024682 | 42024889 | 42024863 | 42024864 | Frame_Shift_Del | AC | - | p.G328fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_483179 | 42012084 | 42012478 | 42012265 | 42012266 | Frame_Shift_Ins | - | A | p.*K20fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_483179 | 42012084 | 42012478 | 42012265 | 42012266 | Frame_Shift_Ins | - | A | p.W20fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012265 | 42012266 | Frame_Shift_Ins | - | A | p.*K20fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_483181 exon_skip_483185 | 42012134 | 42012478 | 42012265 | 42012266 | Frame_Shift_Ins | - | A | p.W20fs |
| KIRC | TCGA-B8-5549-01 | exon_skip_483182 | 42015459 | 42015630 | 42015557 | 42015558 | Frame_Shift_Ins | - | A | p.A124fs |
| LIHC | TCGA-BC-A10Z-01 | exon_skip_483192 | 42022589 | 42022674 | 42022613 | 42022614 | Frame_Shift_Ins | - | G | p.Q203fs |
| LIHC | TCGA-BC-A10Z-01 | exon_skip_483192 | 42022589 | 42022674 | 42022613 | 42022614 | Frame_Shift_Ins | - | G | p.R203fs |
| GBM | TCGA-06-0166-01 | exon_skip_483195 | 42024682 | 42024889 | 42024775 | 42024776 | Frame_Shift_Ins | - | GT | p.Q299fs |
| CHOL | TCGA-3X-AAVA-01 | exon_skip_483182 | 42015459 | 42015630 | 42015516 | 42015516 | Nonsense_Mutation | G | T | p.E111X |
| ESCA | TCGA-VR-A8EY-01 | exon_skip_483192 | 42022589 | 42022674 | 42022606 | 42022606 | Nonsense_Mutation | G | T | p.E201X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| BT20_BREAST | 42012134 | 42012478 | 42012353 | 42012353 | Missense_Mutation | C | T | p.P50S |
| BT20_BREAST | 42012084 | 42012478 | 42012353 | 42012353 | Missense_Mutation | C | T | p.P50S |
| SW684_SOFT_TISSUE | 42012134 | 42012478 | 42012369 | 42012369 | Missense_Mutation | A | C | p.Y55S |
| SW684_SOFT_TISSUE | 42012084 | 42012478 | 42012369 | 42012369 | Missense_Mutation | A | C | p.Y55S |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42012134 | 42012478 | 42012386 | 42012386 | Missense_Mutation | C | T | p.R61C |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42012084 | 42012478 | 42012386 | 42012386 | Missense_Mutation | C | T | p.R61C |
| WM278_SKIN | 42012134 | 42012478 | 42012450 | 42012450 | Missense_Mutation | T | C | p.F82S |
| WM278_SKIN | 42012084 | 42012478 | 42012450 | 42012450 | Missense_Mutation | T | C | p.F82S |
| PK59_PANCREAS | 42015459 | 42015630 | 42015469 | 42015469 | Missense_Mutation | G | T | p.G95V |
| HEC1A_ENDOMETRIUM | 42015459 | 42015630 | 42015568 | 42015568 | Missense_Mutation | A | T | p.N128I |
| HEC1_ENDOMETRIUM | 42015459 | 42015630 | 42015568 | 42015568 | Missense_Mutation | A | T | p.N128I |
| HEC1B_ENDOMETRIUM | 42015459 | 42015630 | 42015568 | 42015568 | Missense_Mutation | A | T | p.N128I |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42015459 | 42015630 | 42015610 | 42015610 | Missense_Mutation | C | T | p.T142M |
| HEC251_ENDOMETRIUM | 42019799 | 42019936 | 42019856 | 42019856 | Missense_Mutation | G | A | p.R168Q |
| SNU175_LARGE_INTESTINE | 42019799 | 42019936 | 42019859 | 42019859 | Missense_Mutation | G | A | p.R169Q |
| RERFLCFM_LUNG | 42019799 | 42019936 | 42019889 | 42019889 | Missense_Mutation | C | G | p.A179G |
| SNU398_LIVER | 42024682 | 42024889 | 42024713 | 42024713 | Missense_Mutation | A | G | p.N279D |
| A549_LUNG | 42024682 | 42024889 | 42024765 | 42024765 | Missense_Mutation | G | T | p.G296V |
| LN235_CENTRAL_NERVOUS_SYSTEM | 42024682 | 42024889 | 42024800 | 42024800 | Missense_Mutation | G | A | p.V308M |
| HCC2998_LARGE_INTESTINE | 42015459 | 42015630 | 42015579 | 42015579 | Nonsense_Mutation | G | T | p.E132* |
| SKMEL30_SKIN | 42015459 | 42015630 | 42015606 | 42015606 | Nonsense_Mutation | C | T | p.R141* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP3M2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP3M2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP3M2 |
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RelatedDrugs for AP3M2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AP3M2 |
| 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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