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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 PEX2 |
Gene summary |
Gene information | Gene symbol | PEX2 | Gene ID | 5828 |
Gene name | peroxisomal biogenesis factor 2 | |
Synonyms | PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3 | |
Cytomap | 8q21.13 | |
Type of gene | protein-coding | |
Description | peroxisome biogenesis factor 235 kDa peroxisomal membrane proteinRING finger protein 72peroxisomal membrane protein 3, 35kDaperoxisome assembly factor 1 | |
Modification date | 20200313 | |
UniProtAcc | E5RIW9, | |
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 PEX2 |
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 |
TC | UP | ENST00000518986.5 | PEX2-202:protein_coding:PEX2 | 7.932485e+01 | 9.787954e-01 | 2.179168e-05 | 4.778536e-04 |
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 PEX2 |
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_220411 | chr8 | 76986187:76986296:76988307:76988338:76999990:77000078 | 76988307:76988338 |
exon_skip_278847 | chr8 | 76984170:76984195:76986187:76986296:76988307:76988338 | 76986187:76986296 |
exon_skip_295416 | chr8 | 76984170:76984195:76986187:76986296:76999990:77000078 | 76986187:76986296 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for PEX2 |
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 |
ENST00000357039 | 76986187 | 76986296 | 3UTR-3UTR |
ENST00000522527 | 76986187 | 76986296 | 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 |
ENST00000522527 | 76986187 | 76986296 | 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 |
ENST00000357039 | 76986187 | 76986296 | 3UTR-3UTR |
ENST00000522527 | 76986187 | 76986296 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for PEX2 |
p-ENSG00000164751_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 PEX2 |
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 | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6127 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3156-3p | chr8:76986239-76986246 | 8mer-1a | chr8:76986239-76986260 | 151.00 | -17.95 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-4510 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6129 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3128 | chr8:76986287-76986294 | 8mer-1a | chr8:76986272-76986294 | 155.00 | -18.69 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6130 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6834-5p | chr8:76986207-76986214 | 8mer-1a | chr8:76986204-76986222 | 147.00 | -28.80 |
Mayo | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6133 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6127 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3156-3p | chr8:76986239-76986246 | 8mer-1a | chr8:76986239-76986260 | 151.00 | -17.95 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-4510 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6129 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3128 | chr8:76986287-76986294 | 8mer-1a | chr8:76986272-76986294 | 155.00 | -18.69 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6130 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6834-5p | chr8:76986207-76986214 | 8mer-1a | chr8:76986204-76986222 | 147.00 | -28.80 |
MSBB | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6133 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6127 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3156-3p | chr8:76986239-76986246 | 8mer-1a | chr8:76986239-76986260 | 151.00 | -17.95 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-4510 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6129 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-3128 | chr8:76986287-76986294 | 8mer-1a | chr8:76986272-76986294 | 155.00 | -18.69 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6130 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6834-5p | chr8:76986207-76986214 | 8mer-1a | chr8:76986204-76986222 | 147.00 | -28.80 |
ROSMAP | ENST00000522527 | 76986187 | 76986296 | hsa-miR-6133 | chr8:76986206-76986213 | 8mer-1a | chr8:76986192-76986213 | 156.00 | -23.81 |
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SNVs in the skipped exons for PEX2 |
- 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 PEX2 |
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 PEX2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PEX2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_295416 | 6.001063e-01 | 2.447083e-16 |
TC | SRSF2 | exon_skip_295416 | 4.625335e-01 | 1.752810e-09 |
TC | NUP42 | exon_skip_295416 | 4.548688e-01 | 3.488160e-09 |
TC | HNRNPH2 | exon_skip_295416 | 5.209038e-01 | 5.108060e-12 |
TC | PCBP1 | exon_skip_220411 | -4.011192e-01 | 1.468608e-07 |
TC | HNRNPK | exon_skip_220411 | -4.343527e-01 | 9.550570e-09 |
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RelatedDrugs for PEX2 |
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 PEX2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |