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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 PEA15 |
 Gene summary |
| Gene information | Gene symbol | PEA15 | Gene ID | 8682 |
| Gene name | proliferation and apoptosis adaptor protein 15 | |
| Synonyms | HMAT1|HUMMAT1H|MAT1|MAT1H|PEA-15|PED|PED-PEA15|PED/PEA15 | |
| Cytomap | 1q23.2 | |
| Type of gene | protein-coding | |
| Description | astrocytic phosphoprotein PEA-1515 kDa phosphoprotein enriched in astrocyteshomolog of mouse MAT-1 oncogenemammary transforming gene 1, mouse, homolog ofphosphoprotein enriched in astrocytes 15phosphoprotein enriched in diabetesproliferation and apo | |
| Modification date | 20180519 | |
| UniProtAcc | Q15121 | |
| Context | PubMed: PEA15 [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 |
| PEA15 | GO:0046325 | negative regulation of glucose import | 9670003 |
| PEA15 | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10442631 |
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Exon skipping events across known transcript of Ensembl for PEA15 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 PEA15 |
| 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 PEA15 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_12850 | 1 | 160175210:160175312:160176922:160177027:160178253:160178455 | 160176922:160177027 | ENSG00000162734.8 | ENST00000368076.1 |
| exon_skip_12856 | 1 | 160175210:160175312:160181332:160181440:160182899:160183055 | 160181332:160181440 | ENSG00000162734.8 | ENST00000368077.1 |
| exon_skip_12864 | 1 | 160176948:160177027:160178253:160178455:160181332:160181440 | 160178253:160178455 | ENSG00000162734.8 | ENST00000368076.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PEA15 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_12850 | 1 | 160175210:160175312:160176922:160177027:160178253:160178455 | 160176922:160177027 | ENSG00000162734.8 | ENST00000368076.1 |
| exon_skip_12856 | 1 | 160175210:160175312:160181332:160181440:160182899:160183055 | 160181332:160181440 | ENSG00000162734.8 | ENST00000368077.1 |
| exon_skip_12864 | 1 | 160176948:160177027:160178253:160178455:160181332:160181440 | 160178253:160178455 | ENSG00000162734.8 | ENST00000368076.1 |
| 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 PEA15 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PEA15 |
| 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 PEA15 |
| - 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. |
PEA15_LGG_exon_skip_12856_psi_boxplot.png |
| - 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 |
| LGG | TCGA-HT-A617-01 | exon_skip_12856 | 160181333 | 160181440 | 160181386 | 160181386 | Nonsense_Mutation | G | T | p.E18X |
| LGG | TCGA-HT-A617-01 | exon_skip_12856 | 160181333 | 160181440 | 160181386 | 160181386 | Nonsense_Mutation | G | T | p.E39* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HT-A617-01 |
| Cancer type: LGG | |
| ESID: exon_skip_12856 | |
| Skipped exon start: 160181333 | |
| Skipped exon end: 160181440 | |
| Mutation start: 160181386 | |
| Mutation end: 160181386 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E18X | |
| Sample: TCGA-HT-A617-01 |
| Cancer type: LGG | |
| ESID: exon_skip_12856 | |
| Skipped exon start: 160181333 | |
| Skipped exon end: 160181440 | |
| Mutation start: 160181386 | |
| Mutation end: 160181386 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E39* | |
exon_skip_12856_LGG_TCGA-HT-A617-01.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 |
| SKMEL24_SKIN | 160181333 | 160181440 | 160181351 | 160181351 | Missense_Mutation | C | T | p.T6I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PEA15 |
| 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 PEA15 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PEA15 |
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RelatedDrugs for PEA15 |
| 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 PEA15 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PEA15 | C0036341 | Schizophrenia | 1 | PSYGENET |
| PEA15 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| PEA15 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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