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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 PGLS |
Gene summary |
Gene information | Gene symbol | PGLS | Gene ID | 25796 |
Gene name | 6-phosphogluconolactonase | |
Synonyms | 6PGL|HEL-S-304 | |
Cytomap | 19p13.11 | |
Type of gene | protein-coding | |
Description | 6-phosphogluconolactonaseepididymis secretory protein Li 304epididymis secretory sperm binding protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
PGLS | GO:0006098 | pentose-phosphate shunt | 10518023 |
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Gene structures and expression levels for PGLS |
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 |
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 PGLS |
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_129956 | chr19 | 17516173:17516280:17516371:17516474:17517288:17517389 | 17516371:17516474 |
exon_skip_144230 | chr19 | 17516173:17516280:17516371:17516474:17517288:17517325 | 17516371:17516474 |
exon_skip_220753 | chr19 | 17517288:17517389:17517710:17517850:17520944:17521030 | 17517710:17517850 |
exon_skip_275294 | chr19 | 17511865:17511960:17512945:17512968:17516173:17516280 | 17512945:17512968 |
exon_skip_28004 | chr19 | 17516173:17516280:17517288:17517389:17517710:17517835 | 17517288:17517389 |
exon_skip_292193 | chr19 | 17511670:17511960:17512945:17512968:17516173:17516280 | 17512945:17512968 |
exon_skip_33655 | chr19 | 17517288:17517389:17517710:17517850:17520944:17520970 | 17517710:17517850 |
exon_skip_98240 | chr19 | 17516173:17516280:17517288:17517389:17520944:17521030 | 17517288:17517389 |
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 PGLS |
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 |
ENST00000252603 | 17517710 | 17517850 | In-frame |
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 |
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 |
ENST00000252603 | 17517288 | 17517389 | In-frame |
ENST00000252603 | 17517710 | 17517850 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PGLS |
p-ENSG00000130313_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 |
ENST00000252603 | 1045 | 258 | 17517710 | 17517850 | 544 | 683 | 166 | 213 |
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 |
ENST00000252603 | 1045 | 258 | 17517288 | 17517389 | 442 | 542 | 132 | 166 |
ENST00000252603 | 1045 | 258 | 17517710 | 17517850 | 544 | 683 | 166 | 213 |
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 |
O95336 | 166 | 213 | 2 | 258 | Chain | ID=PRO_0000090078;Note=6-phosphogluconolactonase |
O95336 | 166 | 213 | 180 | 180 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
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 |
O95336 | 132 | 166 | 2 | 258 | Chain | ID=PRO_0000090078;Note=6-phosphogluconolactonase |
O95336 | 166 | 213 | 2 | 258 | Chain | ID=PRO_0000090078;Note=6-phosphogluconolactonase |
O95336 | 166 | 213 | 180 | 180 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PGLS |
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 |
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SNVs in the skipped exons for PGLS |
- 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 PGLS |
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 PGLS |
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 PGLS |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PGLS |
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 PGLS |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |