|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PSMA3 |
 Gene summary |
| Gene information | Gene symbol | PSMA3 | Gene ID | 5684 |
| Gene name | proteasome subunit alpha 3 | |
| Synonyms | HC8|PSC3 | |
| Cytomap | 14q23.1 | |
| Type of gene | protein-coding | |
| Description | proteasome subunit alpha type-3macropain subunit C8multicatalytic endopeptidase complex subunit C8proteasome (prosome, macropain) subunit, alpha type, 3proteasome component C8proteasome subunit C8testicular secretory protein Li 43 | |
| Modification date | 20180523 | |
| UniProtAcc | P25788 | |
| Context | PubMed: PSMA3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PSMA3 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. |
 |
Top |
Gene isoform structures and expression levels for PSMA3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PSMA3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106895 | 14 | 58711621:58711659:58714467:58714550:58718836:58718960 | 58714467:58714550 | ENSG00000100567.8 | ENST00000555743.1,ENST00000412908.2,ENST00000553665.1 |
| exon_skip_106896 | 14 | 58711621:58711659:58714467:58714550:58718841:58718960 | 58714467:58714550 | ENSG00000100567.8 | ENST00000555931.1,ENST00000554812.1 |
| exon_skip_106897 | 14 | 58711621:58711659:58714467:58714550:58724462:58724564 | 58714467:58714550 | ENSG00000100567.8 | ENST00000557087.1 |
| exon_skip_106904 | 14 | 58711621:58711659:58718836:58718960:58724462:58724564 | 58718836:58718960 | ENSG00000100567.8 | ENST00000557508.1 |
| exon_skip_106908 | 14 | 58714506:58714550:58718836:58718960:58724462:58724563 | 58718836:58718960 | ENSG00000100567.8 | ENST00000555743.1,ENST00000216455.4,ENST00000412908.2,ENST00000553665.1 |
| exon_skip_106910 | 14 | 58714506:58714550:58718841:58718960:58724462:58724563 | 58718841:58718960 | ENSG00000100567.8 | ENST00000555931.1,ENST00000554812.1,ENST00000556321.1 |
| exon_skip_106914 | 14 | 58724642:58724716:58727665:58727738:58730422:58730488 | 58727665:58727738 | ENSG00000100567.8 | ENST00000557087.1,ENST00000557508.1,ENST00000554812.1,ENST00000555743.1,ENST00000216455.4 |
| exon_skip_106917 | 14 | 58724642:58724716:58727676:58727738:58730422:58730488 | 58727676:58727738 | ENSG00000100567.8 | ENST00000555931.1 |
| exon_skip_106919 | 14 | 58724642:58724716:58727686:58727738:58730422:58730488 | 58727686:58727738 | ENSG00000100567.8 | ENST00000412908.2 |
| exon_skip_106926 | 14 | 58727686:58727738:58730422:58730488:58734191:58734222 | 58730422:58730488 | ENSG00000100567.8 | ENST00000557087.1,ENST00000555931.1,ENST00000557508.1,ENST00000554812.1,ENST00000555743.1,ENST00000216455.4,ENST00000412908.2 |
| exon_skip_106930 | 14 | 58737135:58737203:58737651:58737716:58738568:58738722 | 58737651:58737716 | ENSG00000100567.8 | ENST00000557508.1,ENST00000557290.1,ENST00000553677.1,ENST00000216455.4,ENST00000412908.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PSMA3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106895 | 14 | 58711621:58711659:58714467:58714550:58718836:58718960 | 58714467:58714550 | ENSG00000100567.8 | ENST00000553665.1,ENST00000412908.2,ENST00000555743.1 |
| exon_skip_106896 | 14 | 58711621:58711659:58714467:58714550:58718841:58718960 | 58714467:58714550 | ENSG00000100567.8 | ENST00000554812.1,ENST00000555931.1 |
| exon_skip_106897 | 14 | 58711621:58711659:58714467:58714550:58724462:58724564 | 58714467:58714550 | ENSG00000100567.8 | ENST00000557087.1 |
| exon_skip_106904 | 14 | 58711621:58711659:58718836:58718960:58724462:58724564 | 58718836:58718960 | ENSG00000100567.8 | ENST00000557508.1 |
| exon_skip_106908 | 14 | 58714506:58714550:58718836:58718960:58724462:58724563 | 58718836:58718960 | ENSG00000100567.8 | ENST00000216455.4,ENST00000553665.1,ENST00000412908.2,ENST00000555743.1 |
| exon_skip_106910 | 14 | 58714506:58714550:58718841:58718960:58724462:58724563 | 58718841:58718960 | ENSG00000100567.8 | ENST00000554812.1,ENST00000555931.1,ENST00000556321.1 |
| exon_skip_106914 | 14 | 58724642:58724716:58727665:58727738:58730422:58730488 | 58727665:58727738 | ENSG00000100567.8 | ENST00000216455.4,ENST00000554812.1,ENST00000557087.1,ENST00000555743.1,ENST00000557508.1 |
| exon_skip_106917 | 14 | 58724642:58724716:58727676:58727738:58730422:58730488 | 58727676:58727738 | ENSG00000100567.8 | ENST00000555931.1 |
| exon_skip_106919 | 14 | 58724642:58724716:58727686:58727738:58730422:58730488 | 58727686:58727738 | ENSG00000100567.8 | ENST00000412908.2 |
| exon_skip_106926 | 14 | 58727686:58727738:58730422:58730488:58734191:58734222 | 58730422:58730488 | ENSG00000100567.8 | ENST00000216455.4,ENST00000554812.1,ENST00000557087.1,ENST00000555931.1,ENST00000412908.2,ENST00000555743.1,ENST00000557508.1 |
| exon_skip_106930 | 14 | 58737135:58737203:58737651:58737716:58738568:58738722 | 58737651:58737716 | ENSG00000100567.8 | ENST00000216455.4,ENST00000412908.2,ENST00000557508.1,ENST00000553677.1,ENST00000557290.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PSMA3 |
| 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 |
| ENST00000216455 | 58718836 | 58718960 | Frame-shift |
| ENST00000216455 | 58727665 | 58727738 | Frame-shift |
| ENST00000216455 | 58737651 | 58737716 | Frame-shift |
| ENST00000216455 | 58730422 | 58730488 | 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 |
| ENST00000216455 | 58718836 | 58718960 | Frame-shift |
| ENST00000216455 | 58727665 | 58727738 | Frame-shift |
| ENST00000216455 | 58737651 | 58737716 | Frame-shift |
| ENST00000216455 | 58730422 | 58730488 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PSMA3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000216455 | 987 | 255 | 58730422 | 58730488 | 568 | 633 | 159 | 181 |
| 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 |
| ENST00000216455 | 987 | 255 | 58730422 | 58730488 | 568 | 633 | 159 | 181 |
| 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 |
| P25788 | 159 | 181 | 158 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
| P25788 | 159 | 181 | 2 | 255 | Chain | ID=PRO_0000124091;Note=Proteasome subunit alpha type-3 |
| P25788 | 159 | 181 | 170 | 177 | 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 |
| P25788 | 159 | 181 | 158 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
| P25788 | 159 | 181 | 2 | 255 | Chain | ID=PRO_0000124091;Note=Proteasome subunit alpha type-3 |
| P25788 | 159 | 181 | 170 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LE5 |
Top |
SNVs in the skipped exons for PSMA3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| STAD | TCGA-CG-5726-01 | exon_skip_106908 exon_skip_106904 exon_skip_106910 | 58718837 | 58718960 | 58718839 | 58718839 | Frame_Shift_Del | C | - | p.T36fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_106926 | 58730423 | 58730488 | 58730470 | 58730470 | Frame_Shift_Del | G | - | p.T175fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_106926 | 58730423 | 58730488 | 58730472 | 58730472 | Frame_Shift_Del | A | - | p.E176fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_106930 | 58737652 | 58737716 | 58737705 | 58737705 | Frame_Shift_Del | A | - | p.K238fs |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727666 | 58727738 | 58727703 | 58727703 | Nonsense_Mutation | C | T | p.Q148* |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727677 | 58727738 | 58727703 | 58727703 | Nonsense_Mutation | C | T | p.Q148* |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727687 | 58727738 | 58727703 | 58727703 | Nonsense_Mutation | C | T | p.Q148* |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_106926 | 58730423 | 58730488 | 58730477 | 58730477 | Nonsense_Mutation | G | T | p.E178* |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_106926 | 58730423 | 58730488 | 58730477 | 58730477 | Nonsense_Mutation | G | T | p.E178X |
| BRCA | TCGA-A2-A0EQ-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727666 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| BRCA | TCGA-A2-A0EQ-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727677 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| BRCA | TCGA-A2-A0EQ-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727687 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727666 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727677 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_106917 exon_skip_106914 exon_skip_106919 | 58727687 | 58727738 | 58727739 | 58727739 | Splice_Site | G | A | e6+1 |
| - 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 |
| NCIH1793_LUNG | 58714468 | 58714550 | 58714532 | 58714532 | Missense_Mutation | A | T | p.K29M |
| NCIH2029_LUNG | 58730423 | 58730488 | 58730439 | 58730439 | Missense_Mutation | C | T | p.A165V |
| UACC893_BREAST | 58737652 | 58737716 | 58737669 | 58737669 | Missense_Mutation | G | A | p.E226K |
| SNUC2A_LARGE_INTESTINE | 58737652 | 58737716 | 58737678 | 58737678 | Missense_Mutation | C | T | p.P229S |
| SNUC2B_LARGE_INTESTINE | 58737652 | 58737716 | 58737678 | 58737678 | Missense_Mutation | C | T | p.P229S |
| HEC108_ENDOMETRIUM | 58737652 | 58737716 | 58737708 | 58737708 | Missense_Mutation | T | C | p.Y239H |
| TOV21G_OVARY | 58737652 | 58737716 | 58737652 | 58737653 | Splice_Site | - | A | p.T221fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSMA3 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSMA3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSMA3 |
Top |
RelatedDrugs for PSMA3 |
| 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 |
Top |
RelatedDiseases for PSMA3 |
| 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)
|