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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PSMC3 |
 Gene summary |
| Gene information | Gene symbol | PSMC3 | Gene ID | 5702 |
| Gene name | proteasome 26S subunit, ATPase 3 | |
| Synonyms | TBP1 | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | 26S proteasome regulatory subunit 6A26S protease regulatory subunit 6A26S proteasome AAA-ATPase subunit RPT5Tat-binding protein 1human immunodeficiency virus tat transactivator binding protein-1proteasome (prosome, macropain) 26S subunit, ATPase, 3p | |
| Modification date | 20200313 | |
| UniProtAcc | E9PKD5, | |
| Context | - 28915562(Detecting the Genetic Link Between Alzheimer's Disease and Obesity Using Bioinformatics Analysis of GWAS Data) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PSMC3 | GO:0043921 | modulation by host of viral transcription | 2194290|8419915 |
| PSMC3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19853614 |
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Gene structures and expression levels for PSMC3 |
| 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. |
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ENSG00000165916
| 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 PSMC3 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102087 | chr11 | 47424109:47424183:47424429:47424491:47424607:47424665 | 47424429:47424491 |
| exon_skip_170205 | chr11 | 47422933:47422973:47424046:47424183:47424607:47424665 | 47424046:47424183 |
| exon_skip_20212 | chr11 | 47418802:47418945:47419116:47419197:47420264:47420409 | 47419116:47419197 |
| exon_skip_202352 | chr11 | 47422933:47422973:47424046:47424183:47424429:47424491 | 47424046:47424183 |
| exon_skip_236763 | chr11 | 47422933:47422973:47424109:47424183:47424429:47424491 | 47424109:47424183 |
| exon_skip_237520 | chr11 | 47420339:47420409:47420631:47420727:47422574:47422625 | 47420631:47420727 |
| exon_skip_264244 | chr11 | 47424046:47424183:47424429:47424491:47424607:47424711 | 47424429:47424491 |
| exon_skip_48528 | chr11 | 47424109:47424183:47424429:47424491:47424607:47424711 | 47424429:47424491 |
| exon_skip_51061 | chr11 | 47424607:47424711:47425121:47425246:47425867:47425950 | 47425121:47425246 |
| exon_skip_86270 | chr11 | 47422933:47422973:47424046:47424183:47424607:47424711 | 47424046:47424183 |
| exon_skip_89215 | chr11 | 47420339:47420409:47420631:47420727:47422574:47422722 | 47420631:47420727 |
| 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 PSMC3 |
| 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 |
| ENST00000298852 | 47419116 | 47419197 | Frame-shift |
| ENST00000619920 | 47419116 | 47419197 | Frame-shift |
| ENST00000298852 | 47420631 | 47420727 | Frame-shift |
| ENST00000619920 | 47420631 | 47420727 | Frame-shift |
| ENST00000298852 | 47424046 | 47424183 | In-frame |
| ENST00000619920 | 47424046 | 47424183 | In-frame |
| ENST00000298852 | 47424429 | 47424491 | In-frame |
| ENST00000619920 | 47424429 | 47424491 | In-frame |
| ENST00000298852 | 47425121 | 47425246 | In-frame |
| ENST00000619920 | 47425121 | 47425246 | 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 |
| ENST00000298852 | 47420631 | 47420727 | Frame-shift |
| ENST00000619920 | 47420631 | 47420727 | Frame-shift |
| 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 |
| ENST00000298852 | 47419116 | 47419197 | Frame-shift |
| ENST00000619920 | 47419116 | 47419197 | Frame-shift |
| ENST00000298852 | 47420631 | 47420727 | Frame-shift |
| ENST00000619920 | 47420631 | 47420727 | Frame-shift |
| ENST00000298852 | 47424046 | 47424183 | In-frame |
| ENST00000619920 | 47424046 | 47424183 | In-frame |
| ENST00000298852 | 47424429 | 47424491 | In-frame |
| ENST00000619920 | 47424429 | 47424491 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PSMC3 |
p-ENSG00000165916_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 |
| ENST00000298852 | 1561 | 439 | 47425121 | 47425246 | 318 | 442 | 53 | 94 |
| ENST00000619920 | 1597 | 439 | 47425121 | 47425246 | 354 | 478 | 53 | 94 |
| ENST00000298852 | 1561 | 439 | 47424429 | 47424491 | 549 | 610 | 130 | 150 |
| ENST00000619920 | 1597 | 439 | 47424429 | 47424491 | 585 | 646 | 130 | 150 |
| ENST00000298852 | 1561 | 439 | 47424046 | 47424183 | 612 | 748 | 151 | 196 |
| ENST00000619920 | 1597 | 439 | 47424046 | 47424183 | 648 | 784 | 151 | 196 |
| 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 |
| ENST00000298852 | 1561 | 439 | 47424429 | 47424491 | 549 | 610 | 130 | 150 |
| ENST00000619920 | 1597 | 439 | 47424429 | 47424491 | 585 | 646 | 130 | 150 |
| ENST00000298852 | 1561 | 439 | 47424046 | 47424183 | 612 | 748 | 151 | 196 |
| ENST00000619920 | 1597 | 439 | 47424046 | 47424183 | 648 | 784 | 151 | 196 |
| 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 |
| P17980 | 53 | 94 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 53 | 94 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 130 | 150 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 130 | 150 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 151 | 196 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 151 | 196 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| 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 |
| P17980 | 130 | 150 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 130 | 150 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 151 | 196 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
| P17980 | 151 | 196 | 1 | 439 | Chain | ID=PRO_0000084698;Note=26S proteasome regulatory subunit 6A |
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3'-UTR located exon skipping events that lost miRNA binding sites in PSMC3 |
| 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 PSMC3 |
| - 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 PSMC3 |
| 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 PSMC3 |
| 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 PSMC3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PSMC3 |
| 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 PSMC3 |
| 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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