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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 PSMA5 |
 Gene summary |
| Gene information | Gene symbol | PSMA5 | Gene ID | 5686 |
| Gene name | proteasome subunit alpha 5 | |
| Synonyms | PSC5|ZETA | |
| Cytomap | 1p13.3 | |
| Type of gene | protein-coding | |
| Description | proteasome subunit alpha type-5epididymis tissue sperm binding protein Li 11nmacropain subunit zetamacropain zeta chainmulticatalytic endopeptidase complex zeta chainproteasome (prosome, macropain) subunit, alpha type, 5proteasome alpha 5 subunitpr | |
| Modification date | 20180523 | |
| UniProtAcc | P28066 | |
| Context | PubMed: PSMA5 [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 PSMA5 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 PSMA5 |
| 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 PSMA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28977 | 1 | 109944471:109944712:109952549:109952636:109953632:109953701 | 109952549:109952636 | ENSG00000143106.8 | ENST00000538610.1,ENST00000271308.4,ENST00000490870.1 |
| exon_skip_28990 | 1 | 109952549:109952636:109953632:109953735:109954498:109954557 | 109953632:109953735 | ENSG00000143106.8 | ENST00000538610.1,ENST00000271308.4,ENST00000490870.1 |
| exon_skip_28995 | 1 | 109954698:109954806:109955689:109955757:109957858:109957972 | 109955689:109955757 | ENSG00000143106.8 | ENST00000538610.1,ENST00000271308.4,ENST00000490870.1 |
| exon_skip_29004 | 1 | 109957858:109957985:109964481:109964548:109968923:109968973 | 109964481:109964548 | ENSG00000143106.8 | ENST00000484563.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PSMA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28977 | 1 | 109944471:109944712:109952549:109952636:109953632:109953701 | 109952549:109952636 | ENSG00000143106.8 | ENST00000271308.4,ENST00000538610.1,ENST00000490870.1 |
| exon_skip_28990 | 1 | 109952549:109952636:109953632:109953735:109954498:109954557 | 109953632:109953735 | ENSG00000143106.8 | ENST00000271308.4,ENST00000538610.1,ENST00000490870.1 |
| exon_skip_28995 | 1 | 109954698:109954806:109955689:109955757:109957858:109957972 | 109955689:109955757 | ENSG00000143106.8 | ENST00000271308.4,ENST00000538610.1,ENST00000490870.1 |
| exon_skip_29004 | 1 | 109957858:109957985:109964481:109964548:109968923:109968973 | 109964481:109964548 | ENSG00000143106.8 | ENST00000484563.1 |
| 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 PSMA5 |
| 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 |
| ENST00000271308 | 109953632 | 109953735 | Frame-shift |
| ENST00000271308 | 109955689 | 109955757 | Frame-shift |
| ENST00000271308 | 109952549 | 109952636 | 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 |
| ENST00000271308 | 109953632 | 109953735 | Frame-shift |
| ENST00000271308 | 109955689 | 109955757 | Frame-shift |
| ENST00000271308 | 109952549 | 109952636 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PSMA5 |
| 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 |
| ENST00000271308 | 3746 | 241 | 109952549 | 109952636 | 583 | 669 | 187 | 216 |
| 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 |
| ENST00000271308 | 3746 | 241 | 109952549 | 109952636 | 583 | 669 | 187 | 216 |
| 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 |
| P28066 | 187 | 216 | 206 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5A0Q |
| P28066 | 187 | 216 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
| P28066 | 187 | 216 | 1 | 241 | Chain | ID=PRO_0000124117;Note=Proteasome subunit alpha type-5 |
| P28066 | 187 | 216 | 198 | 198 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P28066 | 187 | 216 | 191 | 205 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
| 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 |
| P28066 | 187 | 216 | 206 | 208 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5A0Q |
| P28066 | 187 | 216 | 214 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
| P28066 | 187 | 216 | 1 | 241 | Chain | ID=PRO_0000124117;Note=Proteasome subunit alpha type-5 |
| P28066 | 187 | 216 | 198 | 198 | Glycosylation | Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P28066 | 187 | 216 | 191 | 205 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
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SNVs in the skipped exons for PSMA5 |
| - 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. |
PSMA5_CHOL_exon_skip_29004_psi_boxplot.png |
PSMA5_ESCA_exon_skip_29004_psi_boxplot.png |
PSMA5_LIHC_exon_skip_29004_psi_boxplot.png |
| - 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 |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_28990 | 109953633 | 109953735 | 109953662 | 109953662 | Frame_Shift_Del | G | - | p.Q178fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_28995 | 109955690 | 109955757 | 109955708 | 109955708 | Frame_Shift_Del | T | - | p.K91fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_29004 | 109964482 | 109964548 | 109964505 | 109964505 | Frame_Shift_Del | C | - | p.E25fs |
| UCEC | TCGA-B5-A11E-01 | exon_skip_28990 | 109953633 | 109953735 | 109953692 | 109953692 | Nonsense_Mutation | G | A | p.R168* |
| ESCA | TCGA-V5-A7RC-01 | exon_skip_29004 | 109964482 | 109964548 | 109964493 | 109964493 | Nonsense_Mutation | C | A | p.E29X |
| CHOL | TCGA-3X-AAVE-01 | exon_skip_29004 | 109964482 | 109964548 | 109964511 | 109964511 | Nonsense_Mutation | G | A | p.Q23* |
| CHOL | TCGA-3X-AAVE-01 | exon_skip_29004 | 109964482 | 109964548 | 109964511 | 109964511 | Nonsense_Mutation | G | A | p.Q23X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-3X-AAVE-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_29004 | |
| Skipped exon start: 109964482 | |
| Skipped exon end: 109964548 | |
| Mutation start: 109964511 | |
| Mutation end: 109964511 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q23X | |
| Sample: TCGA-3X-AAVE-01 |
| Cancer type: CHOL | |
| ESID: exon_skip_29004 | |
| Skipped exon start: 109964482 | |
| Skipped exon end: 109964548 | |
| Mutation start: 109964511 | |
| Mutation end: 109964511 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q23* | |
exon_skip_29004_CHOL_TCGA-3X-AAVE-01.png | |
exon_skip_470580_CHOL_TCGA-3X-AAVE-01.png | |
| - 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 |
| SKNAS_AUTONOMIC_GANGLIA | 109953633 | 109953735 | 109953644 | 109953644 | Missense_Mutation | C | T | p.V184I |
| CORL47_LUNG | 109953633 | 109953735 | 109953721 | 109953721 | Missense_Mutation | G | T | p.P158Q |
| CORL88_LUNG | 109955690 | 109955757 | 109955713 | 109955713 | Missense_Mutation | C | T | p.D90N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109955690 | 109955757 | 109955721 | 109955721 | Missense_Mutation | G | A | p.T87I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSMA5 |
| 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 PSMA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSMA5 |
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RelatedDrugs for PSMA5 |
| 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 PSMA5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PSMA5 | C0015695 | Fatty Liver | 1 | CTD_human |
| PSMA5 | C0019693 | HIV Infections | 1 | CTD_human |
| PSMA5 | C0029456 | Osteoporosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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