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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 AP4E1 |
 Gene summary |
| Gene information | Gene symbol | AP4E1 | Gene ID | 23431 |
| Gene name | adaptor related protein complex 4 subunit epsilon 1 | |
| Synonyms | CPSQ4|SPG51|STUT1 | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | AP-4 complex subunit epsilon-1AP-4 adaptor complex subunit epsilonadaptor related protein complex 4 epsilon 1 subunitadaptor-related protein complex AP-4 epsilonepsilon-adaptin | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UPM8 | |
| Context | PubMed: AP4E1 [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 AP4E1 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 AP4E1 |
| 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 AP4E1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122106 | 15 | 51223001:51223168:51226732:51226894:51233638:51233761 | 51226732:51226894 | ENSG00000081014.6 | ENST00000558439.1 |
| exon_skip_122107 | 15 | 51223001:51223168:51226820:51226894:51233638:51233761 | 51226820:51226894 | ENSG00000081014.6 | ENST00000261842.5,ENST00000560508.1,ENST00000561441.1 |
| exon_skip_122110 | 15 | 51250688:51250991:51260459:51260574:51276218:51276342 | 51260459:51260574 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| exon_skip_122112 | 15 | 51260459:51260574:51276218:51276342:51285566:51285822 | 51276218:51276342 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| exon_skip_122113 | 15 | 51289945:51290080:51291268:51291459:51293222:51293380 | 51291268:51291459 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AP4E1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122106 | 15 | 51223001:51223168:51226732:51226894:51233638:51233761 | 51226732:51226894 | ENSG00000081014.6 | ENST00000558439.1 |
| exon_skip_122107 | 15 | 51223001:51223168:51226820:51226894:51233638:51233761 | 51226820:51226894 | ENSG00000081014.6 | ENST00000561441.1,ENST00000261842.5,ENST00000560508.1 |
| exon_skip_122110 | 15 | 51250688:51250991:51260459:51260574:51276218:51276342 | 51260459:51260574 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| exon_skip_122112 | 15 | 51260459:51260574:51276218:51276342:51285566:51285822 | 51276218:51276342 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| exon_skip_122113 | 15 | 51289945:51290080:51291268:51291459:51293222:51293380 | 51291268:51291459 | ENSG00000081014.6 | ENST00000561393.1,ENST00000558439.1,ENST00000261842.5,ENST00000560508.1 |
| 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 AP4E1 |
| 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 |
| ENST00000261842 | 51226820 | 51226894 | Frame-shift |
| ENST00000261842 | 51260459 | 51260574 | Frame-shift |
| ENST00000261842 | 51276218 | 51276342 | Frame-shift |
| ENST00000261842 | 51291268 | 51291459 | Frame-shift |
| 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 |
| ENST00000261842 | 51226820 | 51226894 | Frame-shift |
| ENST00000261842 | 51260459 | 51260574 | Frame-shift |
| ENST00000261842 | 51276218 | 51276342 | Frame-shift |
| ENST00000261842 | 51291268 | 51291459 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AP4E1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for AP4E1 |
| - 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 |
| KIRC | TCGA-A3-3370-01 | exon_skip_122112 | 51276219 | 51276342 | 51276219 | 51276221 | Frame_Shift_Del | TTC | - | p.656_656del |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_122106 | 51226733 | 51226894 | 51226828 | 51226828 | Nonsense_Mutation | G | T | p.E293* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_122107 | 51226821 | 51226894 | 51226828 | 51226828 | Nonsense_Mutation | G | T | p.E293* |
| BRCA | TCGA-C8-A12T-01 | exon_skip_122113 | 51291269 | 51291459 | 51291329 | 51291329 | Nonsense_Mutation | C | T | p.Q989* |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_122112 | 51276219 | 51276342 | 51276218 | 51276218 | Splice_Site | G | A | e16-1 |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_122112 | 51276219 | 51276342 | 51276218 | 51276218 | Splice_Site | G | A | p.V656_splice |
| - 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 |
| SARC9371_BONE | 51226821 | 51226894 | 51226862 | 51226862 | Missense_Mutation | G | A | p.R304Q |
| SARC9371_BONE | 51226733 | 51226894 | 51226862 | 51226862 | Missense_Mutation | G | A | p.R304Q |
| EN_ENDOMETRIUM | 51260460 | 51260574 | 51260485 | 51260485 | Missense_Mutation | A | G | p.D626G |
| MKN74_STOMACH | 51260460 | 51260574 | 51260535 | 51260535 | Missense_Mutation | C | A | p.P643T |
| DOTC24510_CERVIX | 51276219 | 51276342 | 51276245 | 51276245 | Missense_Mutation | T | A | p.S665T |
| SEKI_SKIN | 51291269 | 51291459 | 51291282 | 51291282 | Missense_Mutation | C | T | p.P973L |
| SARC9371_BONE | 51291269 | 51291459 | 51291333 | 51291333 | Missense_Mutation | A | G | p.Y990C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 51226821 | 51226894 | 51226893 | 51226893 | Splice_Site | T | C | p.Y314Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 51226733 | 51226894 | 51226893 | 51226893 | Splice_Site | T | C | p.Y314Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP4E1 |
| 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 AP4E1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP4E1 |
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RelatedDrugs for AP4E1 |
| 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 AP4E1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AP4E1 | C3489627 | Stuttering, Familial Persistent 1 | 1 | UNIPROT |
| AP4E1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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