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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PSMD5 |
 Gene summary |
| Gene information | Gene symbol | PSMD5 | Gene ID | 5711 |
| Gene name | proteasome 26S subunit, non-ATPase 5 | |
| Synonyms | S5B | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | 26S proteasome non-ATPase regulatory subunit 526S protease subunit S5 basic26S proteasome subunit S5Bproteasome (prosome, macropain) 26S subunit, non-ATPase, 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q16401 | |
| Context | PubMed: PSMD5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for PSMD5 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for PSMD5 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PSMD5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506578 | 9 | 123583116:123583257:123583632:123583742:123586771:123586796 | 123583632:123583742 | ENSG00000095261.9 | ENST00000373904.5,ENST00000210313.3 |
| exon_skip_506584 | 9 | 123583632:123583742:123586771:123586963:123589042:123589172 | 123586771:123586963 | ENSG00000095261.9 | ENST00000373904.5,ENST00000210313.3 |
| exon_skip_506591 | 9 | 123589042:123589185:123591376:123591486:123593608:123593679 | 123591376:123591486 | ENSG00000095261.9 | ENST00000210313.3 |
| exon_skip_506592 | 9 | 123589042:123589185:123591376:123591486:123594109:123594223 | 123591376:123591486 | ENSG00000095261.9 | ENST00000373904.5 |
| exon_skip_506596 | 9 | 123591376:123591486:123593608:123593737:123594109:123594223 | 123593608:123593737 | ENSG00000095261.9 | ENST00000210313.3 |
| exon_skip_506598 | 9 | 123594109:123594223:123595589:123595734:123605014:123605160 | 123595589:123595734 | ENSG00000095261.9 | ENST00000471789.1,ENST00000373904.5,ENST00000210313.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PSMD5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506578 | 9 | 123583116:123583257:123583632:123583742:123586771:123586796 | 123583632:123583742 | ENSG00000095261.9 | ENST00000210313.3,ENST00000373904.5 |
| exon_skip_506584 | 9 | 123583632:123583742:123586771:123586963:123589042:123589172 | 123586771:123586963 | ENSG00000095261.9 | ENST00000210313.3,ENST00000373904.5 |
| exon_skip_506591 | 9 | 123589042:123589185:123591376:123591486:123593608:123593679 | 123591376:123591486 | ENSG00000095261.9 | ENST00000210313.3 |
| exon_skip_506592 | 9 | 123589042:123589185:123591376:123591486:123594109:123594223 | 123591376:123591486 | ENSG00000095261.9 | ENST00000373904.5 |
| exon_skip_506596 | 9 | 123591376:123591486:123593608:123593737:123594109:123594223 | 123593608:123593737 | ENSG00000095261.9 | ENST00000210313.3 |
| exon_skip_506598 | 9 | 123594109:123594223:123595589:123595734:123605014:123605160 | 123595589:123595734 | ENSG00000095261.9 | ENST00000210313.3,ENST00000373904.5,ENST00000471789.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PSMD5 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000210313 | 123583632 | 123583742 | Frame-shift |
| ENST00000210313 | 123591376 | 123591486 | Frame-shift |
| ENST00000210313 | 123595589 | 123595734 | Frame-shift |
| ENST00000210313 | 123586771 | 123586963 | In-frame |
| ENST00000210313 | 123593608 | 123593737 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000210313 | 123583632 | 123583742 | Frame-shift |
| ENST00000210313 | 123591376 | 123591486 | Frame-shift |
| ENST00000210313 | 123595589 | 123595734 | Frame-shift |
| ENST00000210313 | 123586771 | 123586963 | In-frame |
| ENST00000210313 | 123593608 | 123593737 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PSMD5 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000210313 | 3460 | 504 | 123593608 | 123593737 | 508 | 636 | 144 | 187 |
| ENST00000210313 | 3460 | 504 | 123586771 | 123586963 | 890 | 1081 | 271 | 335 |
| Loci of skipped exons in GTEx 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 |
| ENST00000210313 | 3460 | 504 | 123593608 | 123593737 | 508 | 636 | 144 | 187 |
| ENST00000210313 | 3460 | 504 | 123586771 | 123586963 | 890 | 1081 | 271 | 335 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q16401 | 144 | 187 | 145 | 187 | Alternative sequence | ID=VSP_045176;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q16401 | 144 | 187 | 2 | 504 | Chain | ID=PRO_0000173835;Note=26S proteasome non-ATPase regulatory subunit 5 |
| Q16401 | 271 | 335 | 2 | 504 | Chain | ID=PRO_0000173835;Note=26S proteasome non-ATPase regulatory subunit 5 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q16401 | 144 | 187 | 145 | 187 | Alternative sequence | ID=VSP_045176;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q16401 | 144 | 187 | 2 | 504 | Chain | ID=PRO_0000173835;Note=26S proteasome non-ATPase regulatory subunit 5 |
| Q16401 | 271 | 335 | 2 | 504 | Chain | ID=PRO_0000173835;Note=26S proteasome non-ATPase regulatory subunit 5 |
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SNVs in the skipped exons for PSMD5 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-AZ-6598-01 | exon_skip_506584 | 123586772 | 123586963 | 123586946 | 123586947 | Frame_Shift_Ins | - | A | p.G278fs |
| COAD | TCGA-CK-5913-01 | exon_skip_506584 | 123586772 | 123586963 | 123586946 | 123586947 | Frame_Shift_Ins | - | A | p.G278fs |
| BRCA | TCGA-A8-A07P-01 | exon_skip_506596 | 123593609 | 123593737 | 123593626 | 123593626 | Nonsense_Mutation | G | A | p.R182* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_506598 | 123595590 | 123595734 | 123595733 | 123595733 | Nonsense_Mutation | C | A | p.E59* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NB13_AUTONOMIC_GANGLIA | 123595590 | 123595734 | 123595592 | 123595592 | Frame_Shift_Del | G | - | p.Q106fs |
| KU1919_URINARY_TRACT | 123586772 | 123586963 | 123586838 | 123586838 | Missense_Mutation | C | T | p.V314I |
| KPNYN_AUTONOMIC_GANGLIA | 123586772 | 123586963 | 123586838 | 123586838 | Missense_Mutation | C | T | p.V314I |
| ESO51_OESOPHAGUS | 123586772 | 123586963 | 123586869 | 123586869 | Missense_Mutation | C | G | p.M303I |
| HTCC3_THYROID | 123586772 | 123586963 | 123586907 | 123586907 | Missense_Mutation | C | G | p.E291Q |
| TC32_BONE | 123586772 | 123586963 | 123586948 | 123586948 | Missense_Mutation | A | T | p.F277Y |
| K2_SKIN | 123591377 | 123591486 | 123591465 | 123591465 | Missense_Mutation | C | T | p.V195M |
| SNU81_LARGE_INTESTINE | 123591377 | 123591486 | 123591470 | 123591470 | Missense_Mutation | G | T | p.S193Y |
| HEC1_ENDOMETRIUM | 123595590 | 123595734 | 123595657 | 123595657 | Missense_Mutation | A | G | p.L84P |
| DJM1_SKIN | 123595590 | 123595734 | 123595670 | 123595670 | Missense_Mutation | C | T | p.V80M |
| NCC021_KIDNEY | 123595590 | 123595734 | 123595693 | 123595693 | Missense_Mutation | A | T | p.L72H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSMD5 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSMD5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSMD5 |
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RelatedDrugs for PSMD5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PSMD5 |
| 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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