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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 AP4M1 |
 Gene summary |
| Gene information | Gene symbol | AP4M1 | Gene ID | 9179 |
| Gene name | adaptor related protein complex 4 subunit mu 1 | |
| Synonyms | CPSQ3|MU-4|MU-ARP2|SPG50 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | AP-4 complex subunit mu-1AP-4 adaptor complex mu subunitadapter-related protein complex 4 mu-1 subunitadapter-related protein complex 4 subunit mu-1adaptor related protein complex 4 mu 1 subunitadaptor-related protein complex AP-4 mu4 subunitmu subu | |
| Modification date | 20180529 | |
| UniProtAcc | O00189 | |
| Context | PubMed: AP4M1 [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 |
| AP4M1 | GO:0006605 | protein targeting | 20230749 |
| AP4M1 | GO:0006622 | protein targeting to lysosome | 11139587 |
| AP4M1 | GO:0090160 | Golgi to lysosome transport | 11139587 |
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Exon skipping events across known transcript of Ensembl for AP4M1 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 AP4M1 |
| 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 AP4M1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468850 | 7 | 99699502:99699591:99699868:99700016:99700297:99700369 | 99699868:99700016 | ENSG00000221838.5 | ENST00000394061.3 |
| exon_skip_468852 | 7 | 99699502:99699591:99700297:99700369:99701031:99701142 | 99700297:99700369 | ENSG00000221838.5 | ENST00000439416.1 |
| exon_skip_468853 | 7 | 99699502:99699591:99700297:99700404:99701031:99701068 | 99700297:99700404 | ENSG00000221838.5 | ENST00000445208.1 |
| exon_skip_468856 | 7 | 99700297:99700404:99700486:99700583:99701031:99701068 | 99700486:99700583 | ENSG00000221838.5 | ENST00000463195.1,ENST00000359593.4,ENST00000394061.3,ENST00000429084.1,ENST00000422582.1,ENST00000421755.1,ENST00000416938.1,ENST00000446007.1,ENST00000478501.1 |
| exon_skip_468858 | 7 | 99701714:99701777:99702496:99702563:99702667:99702721 | 99702496:99702563 | ENSG00000221838.5 | ENST00000359593.4,ENST00000438383.1,ENST00000429084.1,ENST00000422582.1,ENST00000421755.1,ENST00000479916.1,ENST00000439416.1,ENST00000445208.1 |
| exon_skip_468860 | 7 | 99701714:99701777:99702667:99702721:99702862:99702969 | 99702667:99702721 | ENSG00000221838.5 | ENST00000463195.1,ENST00000416938.1 |
| exon_skip_468862 | 7 | 99703581:99703626:99703863:99703914:99704025:99704137 | 99703863:99703914 | ENSG00000221838.5 | ENST00000450807.1,ENST00000359593.4,ENST00000445295.1,ENST00000438383.1,ENST00000429084.1,ENST00000422582.1,ENST00000421755.1,ENST00000416938.1,ENST00000445208.1 |
| exon_skip_468869 | 7 | 99704035:99704137:99704280:99704535:99707813:99707942 | 99704280:99704535 | ENSG00000221838.5 | ENST00000421755.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AP4M1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468850 | 7 | 99699502:99699591:99699868:99700016:99700297:99700369 | 99699868:99700016 | ENSG00000221838.5 | ENST00000394061.3 |
| exon_skip_468852 | 7 | 99699502:99699591:99700297:99700369:99701031:99701142 | 99700297:99700369 | ENSG00000221838.5 | ENST00000439416.1 |
| exon_skip_468853 | 7 | 99699502:99699591:99700297:99700404:99701031:99701068 | 99700297:99700404 | ENSG00000221838.5 | ENST00000445208.1 |
| exon_skip_468856 | 7 | 99700297:99700404:99700486:99700583:99701031:99701068 | 99700486:99700583 | ENSG00000221838.5 | ENST00000394061.3,ENST00000429084.1,ENST00000359593.4,ENST00000478501.1,ENST00000446007.1,ENST00000421755.1,ENST00000463195.1,ENST00000416938.1,ENST00000422582.1 |
| exon_skip_468858 | 7 | 99701714:99701777:99702496:99702563:99702667:99702721 | 99702496:99702563 | ENSG00000221838.5 | ENST00000438383.1,ENST00000445208.1,ENST00000429084.1,ENST00000359593.4,ENST00000439416.1,ENST00000421755.1,ENST00000422582.1,ENST00000479916.1 |
| exon_skip_468860 | 7 | 99701714:99701777:99702667:99702721:99702862:99702969 | 99702667:99702721 | ENSG00000221838.5 | ENST00000463195.1,ENST00000416938.1 |
| exon_skip_468862 | 7 | 99703581:99703626:99703863:99703914:99704025:99704137 | 99703863:99703914 | ENSG00000221838.5 | ENST00000438383.1,ENST00000445208.1,ENST00000429084.1,ENST00000359593.4,ENST00000421755.1,ENST00000416938.1,ENST00000422582.1,ENST00000450807.1,ENST00000445295.1 |
| exon_skip_468869 | 7 | 99704035:99704137:99704280:99704535:99707813:99707942 | 99704280:99704535 | ENSG00000221838.5 | ENST00000421755.1 |
| 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 AP4M1 |
| 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 |
| ENST00000421755 | 99704280 | 99704535 | 3UTR-3CDS |
| ENST00000359593 | 99700486 | 99700583 | Frame-shift |
| ENST00000421755 | 99700486 | 99700583 | Frame-shift |
| ENST00000359593 | 99702496 | 99702563 | Frame-shift |
| ENST00000421755 | 99702496 | 99702563 | Frame-shift |
| ENST00000359593 | 99703863 | 99703914 | In-frame |
| ENST00000421755 | 99703863 | 99703914 | 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 |
| ENST00000421755 | 99704280 | 99704535 | 3UTR-3CDS |
| ENST00000359593 | 99700486 | 99700583 | Frame-shift |
| ENST00000421755 | 99700486 | 99700583 | Frame-shift |
| ENST00000359593 | 99702496 | 99702563 | Frame-shift |
| ENST00000421755 | 99702496 | 99702563 | Frame-shift |
| ENST00000359593 | 99703863 | 99703914 | In-frame |
| ENST00000421755 | 99703863 | 99703914 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP4M1 |
| 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 |
| ENST00000359593 | 1834 | 453 | 99703863 | 99703914 | 1133 | 1183 | 325 | 341 |
| ENST00000421755 | 1589 | 453 | 99703863 | 99703914 | 1026 | 1076 | 325 | 341 |
| 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 |
| ENST00000359593 | 1834 | 453 | 99703863 | 99703914 | 1133 | 1183 | 325 | 341 |
| ENST00000421755 | 1589 | 453 | 99703863 | 99703914 | 1026 | 1076 | 325 | 341 |
| 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 |
| O00189 | 325 | 341 | 326 | 335 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 326 | 335 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 341 | 349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 341 | 349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 1 | 453 | Chain | ID=PRO_0000193787;Note=AP-4 complex subunit mu-1 |
| O00189 | 325 | 341 | 1 | 453 | Chain | ID=PRO_0000193787;Note=AP-4 complex subunit mu-1 |
| O00189 | 325 | 341 | 184 | 452 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| O00189 | 325 | 341 | 184 | 452 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| O00189 | 325 | 341 | 338 | 338 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O00189 | 325 | 341 | 338 | 338 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| O00189 | 325 | 341 | 326 | 335 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 326 | 335 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 341 | 349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 341 | 349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L81 |
| O00189 | 325 | 341 | 1 | 453 | Chain | ID=PRO_0000193787;Note=AP-4 complex subunit mu-1 |
| O00189 | 325 | 341 | 1 | 453 | Chain | ID=PRO_0000193787;Note=AP-4 complex subunit mu-1 |
| O00189 | 325 | 341 | 184 | 452 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| O00189 | 325 | 341 | 184 | 452 | Domain | Note=MHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00404 |
| O00189 | 325 | 341 | 338 | 338 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O00189 | 325 | 341 | 338 | 338 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for AP4M1 |
| - 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-A39Y-01 | exon_skip_468856 | 99700487 | 99700583 | 99700529 | 99700529 | Frame_Shift_Del | G | - | p.E106fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_468858 | 99702497 | 99702563 | 99702523 | 99702523 | Frame_Shift_Del | G | - | p.Q218fs |
| BRCA | TCGA-BH-A18F-01 | exon_skip_468858 | 99702497 | 99702563 | 99702544 | 99702547 | Frame_Shift_Del | CTTC | - | p.P221fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_468862 | 99703864 | 99703914 | 99703891 | 99703891 | Frame_Shift_Del | C | - | p.L341fs |
| STAD | TCGA-BR-8487-01 | exon_skip_468869 | 99704281 | 99704535 | 99704296 | 99704296 | Frame_Shift_Del | C | - | p.G384fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_468869 | 99704281 | 99704535 | 99704377 | 99704377 | Frame_Shift_Del | C | - | p.P419fs |
| BRCA | TCGA-BH-A0HA-01 | exon_skip_468869 | 99704281 | 99704535 | 99704464 | 99704464 | Nonsense_Mutation | C | T | p.R441* |
| STAD | TCGA-HU-A4GX-01 | exon_skip_468853 | 99700298 | 99700404 | 99700406 | 99700406 | Splice_Site | T | C | . |
| STAD | TCGA-HU-A4GX-01 | exon_skip_468853 | 99700298 | 99700404 | 99700406 | 99700406 | Splice_Site | T | C | p.R85_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8487-01 |
| Cancer type: STAD | |
| ESID: exon_skip_468869 | |
| Skipped exon start: 99704281 | |
| Skipped exon end: 99704535 | |
| Mutation start: 99704296 | |
| Mutation end: 99704296 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G384fs | |
exon_skip_110606_STAD_TCGA-BR-8487-01.png | |
exon_skip_13071_STAD_TCGA-BR-8487-01.png | |
exon_skip_311841_STAD_TCGA-BR-8487-01.png | |
exon_skip_313312_STAD_TCGA-BR-8487-01.png | |
exon_skip_313316_STAD_TCGA-BR-8487-01.png | |
exon_skip_313367_STAD_TCGA-BR-8487-01.png | |
exon_skip_325448_STAD_TCGA-BR-8487-01.png | |
exon_skip_33313_STAD_TCGA-BR-8487-01.png | |
exon_skip_359494_STAD_TCGA-BR-8487-01.png | |
exon_skip_430601_STAD_TCGA-BR-8487-01.png | |
exon_skip_430604_STAD_TCGA-BR-8487-01.png | |
exon_skip_430616_STAD_TCGA-BR-8487-01.png | |
exon_skip_440411_STAD_TCGA-BR-8487-01.png | |
exon_skip_440412_STAD_TCGA-BR-8487-01.png | |
exon_skip_458582_STAD_TCGA-BR-8487-01.png | |
exon_skip_468869_STAD_TCGA-BR-8487-01.png | |
exon_skip_475355_STAD_TCGA-BR-8487-01.png | |
exon_skip_495683_STAD_TCGA-BR-8487-01.png | |
exon_skip_503611_STAD_TCGA-BR-8487-01.png | |
exon_skip_56463_STAD_TCGA-BR-8487-01.png | |
exon_skip_68768_STAD_TCGA-BR-8487-01.png | |
exon_skip_84502_STAD_TCGA-BR-8487-01.png | |
| - 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 |
| HEC251_ENDOMETRIUM | 99700298 | 99700369 | 99700335 | 99700347 | Frame_Shift_Del | GCGGCCTCTATTT | - | p.SGLYL62fs |
| HEC251_ENDOMETRIUM | 99700298 | 99700404 | 99700335 | 99700347 | Frame_Shift_Del | GCGGCCTCTATTT | - | p.SGLYL62fs |
| ISTMES2_PLEURA | 99700298 | 99700369 | 99700311 | 99700311 | Missense_Mutation | G | A | p.R54H |
| ISTMES2_PLEURA | 99700298 | 99700404 | 99700311 | 99700311 | Missense_Mutation | G | A | p.R54H |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99700298 | 99700369 | 99700311 | 99700311 | Missense_Mutation | G | A | p.R54H |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99700298 | 99700404 | 99700311 | 99700311 | Missense_Mutation | G | A | p.R54H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99700298 | 99700369 | 99700326 | 99700326 | Missense_Mutation | T | A | p.I59N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99700298 | 99700404 | 99700326 | 99700326 | Missense_Mutation | T | A | p.I59N |
| ASH3_THYROID | 99700298 | 99700369 | 99700370 | 99700370 | Missense_Mutation | G | T | p.V74F |
| ASH3_THYROID | 99700298 | 99700404 | 99700370 | 99700370 | Missense_Mutation | G | T | p.V74F |
| LB647SCLC_LUNG | 99702497 | 99702563 | 99702558 | 99702558 | Missense_Mutation | G | A | p.G223D |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99702668 | 99702721 | 99702674 | 99702674 | Missense_Mutation | G | A | p.R227H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99703864 | 99703914 | 99703902 | 99703902 | Missense_Mutation | G | A | p.R338Q |
| NCIH2227_LUNG | 99704281 | 99704535 | 99704303 | 99704303 | Missense_Mutation | G | C | p.G387A |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99704281 | 99704535 | 99704332 | 99704332 | Missense_Mutation | G | A | p.A397T |
| HEC251_ENDOMETRIUM | 99704281 | 99704535 | 99704371 | 99704371 | Missense_Mutation | G | A | p.E410K |
| LS180_LARGE_INTESTINE | 99704281 | 99704535 | 99704498 | 99704498 | Missense_Mutation | G | A | p.R452Q |
| SNU1040_LARGE_INTESTINE | 99704281 | 99704535 | 99704498 | 99704498 | Missense_Mutation | G | A | p.R452Q |
| MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99704281 | 99704535 | 99704500 | 99704500 | Missense_Mutation | A | G | p.I453V |
| HEC108_ENDOMETRIUM | 99702497 | 99702563 | 99702497 | 99702497 | Splice_Site | G | T | p.G203* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP4M1 |
| 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 AP4M1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP4M1 |
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RelatedDrugs for AP4M1 |
| 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 AP4M1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AP4M1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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