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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 PSMC6 |
 Gene summary |
| Gene information | Gene symbol | PSMC6 | Gene ID | 5706 |
| Gene name | proteasome 26S subunit, ATPase 6 | |
| Synonyms | SUG2|p42 | |
| Cytomap | 14q22.1 | |
| Type of gene | protein-coding | |
| Description | 26S proteasome regulatory subunit 10B26S proteasome AAA-ATPase subunit RPT4proteasome (prosome, macropain) 26S subunit, ATPase, 6proteasome subunit p42 | |
| 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 |
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Gene structures and expression levels for PSMC6 |
| 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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ENSG00000100519
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000458604.6 | PSMC6-202:retained_intron:PSMC6 | 1.030962e+01 | 8.021306e-01 | 1.621870e-06 | 3.643701e-04 |
| CB | DOWN | ENST00000555175.1 | PSMC6-209:nonsense_mediated_decay:PSMC6 | 6.417971e+01 | -2.449732e+00 | 1.851625e-10 | 1.061716e-08 |
| CB | UP | ENST00000554044.5 | PSMC6-206:nonsense_mediated_decay:PSMC6 | 2.108291e+01 | 1.237821e+00 | 1.004581e-07 | 2.132959e-06 |
| CB | UP | ENST00000554956.5 | PSMC6-208:retained_intron:PSMC6 | 5.676735e+00 | 8.092182e-01 | 1.450500e-05 | 1.443462e-04 |
| TC | DOWN | ENST00000555175.1 | PSMC6-209:nonsense_mediated_decay:PSMC6 | 3.352434e+01 | -2.445183e+00 | 1.223677e-08 | 1.068725e-06 |
| 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 PSMC6 |
| 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_166364 | chr14 | 52711101:52711168:52711410:52711524:52713881:52713902 | 52711410:52711524 |
| exon_skip_167404 | chr14 | 52718231:52718352:52718977:52719038:52720861:52720978 | 52718977:52719038 |
| exon_skip_18487 | chr14 | 52707219:52707304:52708483:52708522:52708764:52708816 | 52708483:52708522 |
| exon_skip_185061 | chr14 | 52711410:52711524:52713881:52713968:52718081:52718142 | 52713881:52713968 |
| exon_skip_189762 | chr14 | 52708764:52708816:52711101:52711168:52711410:52711524 | 52711101:52711168 |
| exon_skip_190295 | chr14 | 52718081:52718142:52718229:52718352:52723965:52724036 | 52718229:52718352 |
| exon_skip_214014 | chr14 | 52718240:52718352:52718977:52719038:52723965:52724036 | 52718977:52719038 |
| exon_skip_230609 | chr14 | 52720861:52720981:52721110:52721190:52723965:52724036 | 52721110:52721190 |
| exon_skip_250099 | chr14 | 52718081:52718142:52718229:52718352:52718977:52719038 | 52718229:52718352 |
| exon_skip_266437 | chr14 | 52707222:52707304:52708483:52708522:52708764:52708816 | 52708483:52708522 |
| exon_skip_268410 | chr14 | 52718977:52719038:52723965:52724036:52727499:52727817 | 52723965:52724036 |
| exon_skip_295393 | chr14 | 52707222:52707304:52708309:52708388:52708483:52708522 | 52708309:52708388 |
| exon_skip_50988 | chr14 | 52718231:52718352:52718977:52719038:52723965:52724036 | 52718977:52719038 |
| exon_skip_80432 | chr14 | 52718240:52718352:52718977:52719038:52720861:52720978 | 52718977:52719038 |
| 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 PSMC6 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PSMC6 |
p-ENSG00000100519_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 PSMC6 |
| 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 PSMC6 |
| - 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 PSMC6 |
| 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 |
| ADstage | ROSMAP | PCC | exon_skip_295393 | -3.135869e-01 | 2.730000e-06 | chr14 | + | 52707222 | 52707304 | 52708309 | 52708388 | 52708483 | 52708522 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSMC6 |
| 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 PSMC6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_295393 | -4.632668e-01 | 7.796860e-10 |
| CB | TRA2A | exon_skip_295393 | -4.035221e-01 | 1.334234e-07 |
| CB | NUP42 | exon_skip_295393 | 5.236849e-01 | 1.410102e-12 |
| DLPFC | KHDRBS2 | exon_skip_295393 | 5.718538e-01 | 1.174653e-30 |
| TC | SRSF2 | exon_skip_295393 | 5.752774e-01 | 1.771135e-15 |
| TC | KHDRBS2 | exon_skip_295393 | 6.740152e-01 | 1.547506e-22 |
| TC | KHDRBS3 | exon_skip_295393 | 5.604457e-01 | 1.295038e-14 |
| TC | NUP42 | exon_skip_295393 | 6.202128e-01 | 2.213208e-18 |
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RelatedDrugs for PSMC6 |
| 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 PSMC6 |
| 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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