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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 AP1S1 |
 Gene summary |
| Gene information | Gene symbol | AP1S1 | Gene ID | 1174 |
| Gene name | adaptor related protein complex 1 subunit sigma 1 | |
| Synonyms | AP19|CLAPS1|EKV3|MEDNIK|SIGMA1A | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | AP-1 complex subunit sigma-1AHA1 19 kDa subunitadapter-related protein complex 1 sigma-1A subunitadaptor protein complex AP-1 subunit sigma-1Aadaptor related protein complex 1 sigma 1 subunitadaptor-related protein complex 1 subunit sigma-1Aclathrin | |
| Modification date | 20180522 | |
| UniProtAcc | P61966 | |
| Context | PubMed: AP1S1 [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 AP1S1 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 AP1S1 |
| 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 AP1S1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469942 | 7 | 100797763:100797798:100799874:100800053:100800657:100800766 | 100799874:100800053 | ENSG00000106367.9 | ENST00000443943.1 |
| exon_skip_469949 | 7 | 100799897:100800053:100800657:100800766:100802339:100802477 | 100800657:100800766 | ENSG00000106367.9 | ENST00000429457.1,ENST00000337619.5,ENST00000443943.1 |
| exon_skip_469951 | 7 | 100802339:100802477:100803799:100803974:100804772:100804877 | 100803799:100803974 | ENSG00000106367.9 | ENST00000443943.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AP1S1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469942 | 7 | 100797763:100797798:100799874:100800053:100800657:100800766 | 100799874:100800053 | ENSG00000106367.9 | ENST00000443943.1 |
| exon_skip_469949 | 7 | 100799897:100800053:100800657:100800766:100802339:100802477 | 100800657:100800766 | ENSG00000106367.9 | ENST00000337619.5,ENST00000443943.1,ENST00000429457.1 |
| exon_skip_469951 | 7 | 100802339:100802477:100803799:100803974:100804772:100804877 | 100803799:100803974 | ENSG00000106367.9 | ENST00000443943.1 |
| 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 AP1S1 |
| 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 |
| ENST00000337619 | 100800657 | 100800766 | 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 |
| ENST00000337619 | 100800657 | 100800766 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for AP1S1 |
| 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 AP1S1 |
| - 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 |
| STAD | TCGA-BR-A4QM-01 | exon_skip_469942 | 100799875 | 100800053 | 100799921 | 100799921 | Frame_Shift_Del | A | - | p.Q17fs |
| LUSC | TCGA-22-4591-01 | exon_skip_469942 | 100799875 | 100800053 | 100799995 | 100799995 | Nonsense_Mutation | C | T | p.R42* |
| UCEC | TCGA-D1-A17S-01 | exon_skip_469942 | 100799875 | 100800053 | 100799995 | 100799995 | Nonsense_Mutation | C | T | p.R42* |
| - 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 |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100799875 | 100800053 | 100799879 | 100799879 | Missense_Mutation | G | A | p.R3Q |
| CL11_LARGE_INTESTINE | 100799875 | 100800053 | 100799954 | 100799954 | Missense_Mutation | G | A | p.R28Q |
| EN_ENDOMETRIUM | 100799875 | 100800053 | 100799969 | 100799969 | Missense_Mutation | G | A | p.R33H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AP1S1 |
| 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 AP1S1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AP1S1 |
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RelatedDrugs for AP1S1 |
| 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 AP1S1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AP1S1 | C0008372 | Intrahepatic Cholestasis | 1 | CTD_human;HPO |
| AP1S1 | C0023794 | Lipoidosis | 1 | CTD_human |
| AP1S1 | C1836330 | ERYTHROKERATODERMIA VARIABILIS 3 (disorder) | 1 | CTD_human;ORPHANET |
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