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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 PELI2 |
 Gene summary |
| Gene information | Gene symbol | PELI2 | Gene ID | 57161 |
| Gene name | pellino E3 ubiquitin protein ligase family member 2 | |
| Synonyms | - | |
| Cytomap | 14q22.3 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase pellino homolog 2RING-type E3 ubiquitin transferase pellino homolog 2pellino homolog 2pellino-2protein pellino homolog 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HAT8 | |
| Context | PubMed: PELI2 [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 |
| PELI2 | GO:0001934 | positive regulation of protein phosphorylation | 12804775 |
| PELI2 | GO:0043410 | positive regulation of MAPK cascade | 12804775 |
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Exon skipping events across known transcript of Ensembl for PELI2 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 PELI2 |
| 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 PELI2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106790 | 14 | 56645052:56645182:56746393:56746495:56755154:56755352 | 56746393:56746495 | ENSG00000139946.5 | ENST00000267460.4,ENST00000561019.1,ENST00000559044.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PELI2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106790 | 14 | 56645052:56645182:56746393:56746495:56755154:56755352 | 56746393:56746495 | ENSG00000139946.5 | ENST00000559044.1,ENST00000267460.4,ENST00000561019.1 |
| 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 PELI2 |
| 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 |
| ENST00000267460 | 56746393 | 56746495 | 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 |
| ENST00000267460 | 56746393 | 56746495 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PELI2 |
| 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 |
| ENST00000267460 | 5926 | 420 | 56746393 | 56746495 | 494 | 595 | 69 | 103 |
| 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 |
| ENST00000267460 | 5926 | 420 | 56746393 | 56746495 | 494 | 595 | 69 | 103 |
| 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 |
| Q9HAT8 | 69 | 103 | 76 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 84 | 96 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 99 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 1 | 420 | Chain | ID=PRO_0000194174;Note=E3 ubiquitin-protein ligase pellino homolog 2 |
| Q9HAT8 | 69 | 103 | 15 | 202 | Domain | Note=FHA%3B atypical |
| 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 |
| Q9HAT8 | 69 | 103 | 76 | 82 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 84 | 96 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 99 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EGA |
| Q9HAT8 | 69 | 103 | 1 | 420 | Chain | ID=PRO_0000194174;Note=E3 ubiquitin-protein ligase pellino homolog 2 |
| Q9HAT8 | 69 | 103 | 15 | 202 | Domain | Note=FHA%3B atypical |
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SNVs in the skipped exons for PELI2 |
| - 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. |
PELI2_LUSC_exon_skip_106790_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 |
| LUSC | TCGA-66-2763-01 | exon_skip_106790 | 56746394 | 56746495 | 56746496 | 56746496 | Splice_Site | G | T | p.Q103_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-66-2763-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_106790 | |
| Skipped exon start: 56746394 | |
| Skipped exon end: 56746495 | |
| Mutation start: 56746496 | |
| Mutation end: 56746496 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.Q103_splice | |
exon_skip_106790_LUSC_TCGA-66-2763-01.png | |
exon_skip_489645_LUSC_TCGA-66-2763-01.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 |
| HEC108_ENDOMETRIUM | 56746394 | 56746495 | 56746464 | 56746464 | Missense_Mutation | A | G | p.Y93C |
| MEWO_SKIN | 56746394 | 56746495 | 56746493 | 56746493 | Nonsense_Mutation | C | T | p.Q103* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PELI2 |
| 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 PELI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PELI2 |
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RelatedDrugs for PELI2 |
| 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 PELI2 |
| 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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