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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for PEG3 |
Gene summary |
Gene information | Gene symbol | PEG3 | Gene ID | 5178 |
Gene name | paternally expressed 3 | |
Synonyms | PW1|ZKSCAN22|ZNF904|ZSCAN24 | |
Cytomap | 19q13.43 | |
Type of gene | protein-coding | |
Description | paternally-expressed gene 3 proteinKruppel-type zinc finger proteinzinc finger and SCAN domain-containing protein 24 | |
Modification date | 20200313 | |
UniProtAcc | A0A3B3IRU6, | |
Context |
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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Gene structures and expression levels for PEG3 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000647621.1 | PEG3-209:protein_coding:PEG3 | 7.897702e+01 | 3.040106e+00 | 1.763629e-09 | 6.977736e-08 |
CB | UP | ENST00000650632.1 | PEG3-218:protein_coding:PEG3 | 1.173592e+02 | 1.152723e+00 | 1.765677e-06 | 2.431909e-05 |
CB | UP | ENST00000649876.1 | PEG3-216:protein_coding:PEG3 | 1.223099e+02 | 1.225688e+00 | 3.890284e-06 | 4.737743e-05 |
CB | UP | ENST00000599534.5 | PEG3-205:protein_coding:PEG3 | 9.056908e+01 | 1.002748e+00 | 4.501967e-06 | 5.364083e-05 |
CB | UP | ENST00000650102.1 | PEG3-217:protein_coding:PEG3 | 1.303129e+01 | 2.289887e+00 | 7.566546e-05 | 5.856649e-04 |
CB | UP | ENST00000599577.5 | PEG3-207:protein_coding:PEG3 | 3.071694e+00 | 4.790440e+00 | 1.630000e-04 | 1.120417e-03 |
CB | UP | ENST00000594389.1 | PEG3-203:protein_coding:PEG3 | 1.419819e+00 | 1.378160e+00 | 2.648777e-04 | 1.688851e-03 |
CB | UP | ENST00000600833.2 | PEG3-208:protein_coding:PEG3 | 1.766810e+01 | 1.040647e+00 | 2.783849e-04 | 1.759542e-03 |
CB | UP | ENST00000649233.1 | PEG3-212:protein_coding:PEG3 | 2.658149e+02 | 9.169706e-01 | 5.536502e-04 | 3.142278e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PEG3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_151466 | chr19 | 56826388:56826463:56827134:56827246:56836018:56836104 | 56827134:56827246 |
exon_skip_161215 | chr19 | 56826388:56826463:56833290:56833420:56836018:56836104 | 56833290:56833420 |
exon_skip_197863 | chr19 | 56824262:56824427:56826388:56826463:56833290:56833420 | 56826388:56826463 |
exon_skip_214141 | chr19 | 56826388:56826463:56829783:56829921:56836018:56836104 | 56829783:56829921 |
exon_skip_236912 | chr19 | 56824262:56824741:56826388:56826463:56836018:56836104 | 56826388:56826463 |
exon_skip_269337 | chr19 | 56833290:56833420:56833643:56833763:56836018:56836104 | 56833643:56833763 |
exon_skip_9787 | chr19 | 56826388:56826463:56827134:56827246:56833290:56833420 | 56827134:56827246 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_269337 | ROSMAP_HCC | 3.399379e-01 | 4.422093e-01 | -1.022714e-01 | 5.380833e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for PEG3 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000326441 | 56826388 | 56826463 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000326441 | 56826388 | 56826463 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000326441 | 56826388 | 56826463 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for PEG3 |
p-ENSG00000198300_img4.png |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in PEG3 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000326441 | 56826388 | 56826463 | hsa-miR-9902 | chr19:56826407-56826414 | 8mer-1a | chr19:56826391-56826414 | 149.00 | -21.05 |
Mayo | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376c-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
Mayo | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376b-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
Mayo | ENST00000326441 | 56826388 | 56826463 | hsa-miR-4522 | chr19:56826444-56826451 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
Mayo | ENST00000326441 | 56826388 | 56826463 | hsa-miR-2052 | chr19:56826449-56826456 | 8mer-1a | chr19:56826437-56826456 | 141.00 | -10.20 |
MSBB | ENST00000326441 | 56826388 | 56826463 | hsa-miR-9902 | chr19:56826407-56826414 | 8mer-1a | chr19:56826391-56826414 | 149.00 | -21.05 |
MSBB | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376c-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
MSBB | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376b-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
MSBB | ENST00000326441 | 56826388 | 56826463 | hsa-miR-4522 | chr19:56826444-56826451 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
MSBB | ENST00000326441 | 56826388 | 56826463 | hsa-miR-2052 | chr19:56826449-56826456 | 8mer-1a | chr19:56826437-56826456 | 141.00 | -10.20 |
ROSMAP | ENST00000326441 | 56826388 | 56826463 | hsa-miR-9902 | chr19:56826407-56826414 | 8mer-1a | chr19:56826391-56826414 | 149.00 | -21.05 |
ROSMAP | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376c-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
ROSMAP | ENST00000326441 | 56826388 | 56826463 | hsa-miR-376b-5p | chr19:56826432-56826439 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
ROSMAP | ENST00000326441 | 56826388 | 56826463 | hsa-miR-4522 | chr19:56826444-56826451 | 8mer-1a | chr19:56826429-56826451 | 155.00 | -24.30 |
ROSMAP | ENST00000326441 | 56826388 | 56826463 | hsa-miR-2052 | chr19:56826449-56826456 | 8mer-1a | chr19:56826437-56826456 | 141.00 | -10.20 |
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SNVs in the skipped exons for PEG3 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for PEG3 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PEG3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_161215 | rs8101889 | chr19:56918544 | 7.955119e-05 | 1.443460e-02 |
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Correlation with RNA binding proteins (RBPs) for PEG3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | CNOT4 | exon_skip_119210 | 6.576373e-01 | 1.080408e-18 |
CB | FXR2 | exon_skip_119210 | 4.714570e-01 | 4.117581e-09 |
CB | PCBP1 | exon_skip_119210 | 5.779754e-01 | 7.595336e-14 |
CB | KHDRBS3 | exon_skip_119210 | 4.490314e-01 | 2.627422e-08 |
CB | HNRNPL | exon_skip_119210 | 4.568087e-01 | 1.402588e-08 |
CB | RBM23 | exon_skip_119210 | 5.912356e-01 | 1.462785e-14 |
CB | EWSR1 | exon_skip_119210 | 4.810284e-01 | 1.790868e-09 |
CB | HNRNPF | exon_skip_119210 | 5.701834e-01 | 1.932388e-13 |
CB | PABPN1 | exon_skip_161215 | 4.547004e-01 | 2.683718e-08 |
CB | RBM6 | exon_skip_161215 | 4.930501e-01 | 1.073716e-09 |
CB | CNOT4 | exon_skip_161215 | 6.346974e-01 | 1.067666e-16 |
CB | FXR2 | exon_skip_161215 | 5.180377e-01 | 1.053686e-10 |
CB | PCBP1 | exon_skip_161215 | 5.758336e-01 | 2.234525e-13 |
CB | TRA2A | exon_skip_161215 | 4.411810e-01 | 7.619442e-08 |
CB | HNRNPL | exon_skip_161215 | 5.001544e-01 | 5.655686e-10 |
CB | RBM23 | exon_skip_161215 | 5.396300e-01 | 1.210849e-11 |
CB | EWSR1 | exon_skip_161215 | 4.295465e-01 | 1.804999e-07 |
CB | HNRNPF | exon_skip_161215 | 5.476409e-01 | 5.214384e-12 |
FL | RBM3 | exon_skip_161215 | -4.741442e-01 | 4.606825e-10 |
HCC | RBM3 | exon_skip_119210 | -6.077800e-01 | 9.479317e-28 |
HCC | PABPN1 | exon_skip_161215 | 4.019820e-01 | 3.325756e-11 |
HCC | RBM3 | exon_skip_161215 | -5.924842e-01 | 2.845628e-25 |
HCC | HNRNPF | exon_skip_161215 | 4.027071e-01 | 3.043326e-11 |
HCC | PTBP1 | exon_skip_269337 | -4.428243e-01 | 2.763341e-13 |
HCC | SRSF4 | exon_skip_269337 | -4.343996e-01 | 8.635781e-13 |
IFG | PABPN1 | exon_skip_161215 | 6.398086e-01 | 3.260603e-04 |
IFG | RBM6 | exon_skip_161215 | 5.840398e-01 | 1.381413e-03 |
IFG | SRSF11 | exon_skip_161215 | 4.804693e-01 | 1.119106e-02 |
IFG | CNOT4 | exon_skip_161215 | 6.187957e-01 | 5.799682e-04 |
IFG | TIA1 | exon_skip_161215 | 6.293902e-01 | 4.360718e-04 |
IFG | IGF2BP3 | exon_skip_161215 | 5.713641e-01 | 1.851742e-03 |
IFG | RBM3 | exon_skip_161215 | -5.209170e-01 | 5.336590e-03 |
IFG | TRA2A | exon_skip_161215 | 5.754600e-01 | 1.686621e-03 |
IFG | PCBP2 | exon_skip_161215 | 5.794435e-01 | 1.538370e-03 |
IFG | ANKHD1 | exon_skip_161215 | 5.423665e-01 | 3.470724e-03 |
IFG | SNRPA | exon_skip_161215 | 4.246534e-01 | 2.725500e-02 |
IFG | NOVA1 | exon_skip_161215 | 5.916375e-01 | 1.152240e-03 |
PCC | RBM3 | exon_skip_161215 | -6.047673e-01 | 2.464467e-20 |
STG | RBM3 | exon_skip_161215 | -5.353023e-01 | 1.267851e-06 |
TC | RBM3 | exon_skip_119210 | -4.520868e-01 | 2.603443e-08 |
TC | RBM3 | exon_skip_161215 | -5.040440e-01 | 1.316139e-09 |
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RelatedDrugs for PEG3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PEG3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |