|
||||||
|
 | |
| |
| |
| |
| 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 PUS7 |
 Gene summary |
| Gene information | Gene symbol | PUS7 | Gene ID | 54517 |
| Gene name | pseudouridylate synthase 7 | |
| Synonyms | - | |
| Cytomap | 7q22.3 | |
| Type of gene | protein-coding | |
| Description | pseudouridylate synthase 7 homologpseudouridylate synthase 7 (putative) | |
| Modification date | 20180523 | |
| UniProtAcc | Q96PZ0 | |
| Context | PubMed: PUS7 [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 PUS7 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 PUS7 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PUS7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478747 | 7 | 105098105:105098373:105099614:105099706:105103067:105103197 | 105099614:105099706 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478749 | 7 | 105099614:105099706:105102660:105102874:105103067:105103197 | 105102660:105102874 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478750 | 7 | 105099614:105099706:105103067:105103197:105105759:105105861 | 105103067:105103197 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478759 | 7 | 105103067:105103197:105105759:105105861:105108783:105108875 | 105105759:105105861 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478766 | 7 | 105105759:105105861:105108783:105108910:105111134:105111295 | 105108783:105108910 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478767 | 7 | 105105759:105105861:105108783:105108910:105111207:105111295 | 105108783:105108910 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478774 | 7 | 105108783:105108910:105111134:105111295:105112578:105112635 | 105111134:105111295 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478776 | 7 | 105108783:105108910:105111207:105111295:105112578:105112635 | 105111207:105111295 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478779 | 7 | 105111207:105111295:105112578:105112640:105121498:105121624 | 105112578:105112640 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478780 | 7 | 105121498:105121624:105122758:105122887:105131986:105132064 | 105122758:105122887 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478783 | 7 | 105135588:105135700:105142866:105143011:105146401:105146503 | 105142866:105143011 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478784 | 7 | 105142866:105143011:105146401:105146503:105146635:105146720 | 105146401:105146503 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478785 | 7 | 105146401:105146503:105146635:105146720:105148561:105148582 | 105146635:105146720 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PUS7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478749 | 7 | 105099614:105099706:105102660:105102874:105103067:105103197 | 105102660:105102874 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478750 | 7 | 105099614:105099706:105103067:105103197:105105759:105105861 | 105103067:105103197 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478759 | 7 | 105103067:105103197:105105759:105105861:105108783:105108875 | 105105759:105105861 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478766 | 7 | 105105759:105105861:105108783:105108910:105111134:105111295 | 105108783:105108910 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478767 | 7 | 105105759:105105861:105108783:105108910:105111207:105111295 | 105108783:105108910 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478774 | 7 | 105108783:105108910:105111134:105111295:105112578:105112635 | 105111134:105111295 | ENSG00000091127.9 | ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478776 | 7 | 105108783:105108910:105111207:105111295:105112578:105112635 | 105111207:105111295 | ENSG00000091127.9 | ENST00000481939.1 |
| exon_skip_478779 | 7 | 105111207:105111295:105112578:105112640:105121498:105121624 | 105112578:105112640 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478780 | 7 | 105121498:105121624:105122758:105122887:105131986:105132064 | 105122758:105122887 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478783 | 7 | 105135588:105135700:105142866:105143011:105146401:105146503 | 105142866:105143011 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| exon_skip_478785 | 7 | 105146401:105146503:105146635:105146720:105148561:105148582 | 105146635:105146720 | ENSG00000091127.9 | ENST00000481939.1,ENST00000356362.2,ENST00000469408.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PUS7 |
| 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 |
| ENST00000356362 | 105099614 | 105099706 | Frame-shift |
| ENST00000469408 | 105099614 | 105099706 | Frame-shift |
| ENST00000356362 | 105103067 | 105103197 | Frame-shift |
| ENST00000469408 | 105103067 | 105103197 | Frame-shift |
| ENST00000356362 | 105108783 | 105108910 | Frame-shift |
| ENST00000469408 | 105108783 | 105108910 | Frame-shift |
| ENST00000356362 | 105111134 | 105111295 | Frame-shift |
| ENST00000469408 | 105111134 | 105111295 | Frame-shift |
| ENST00000356362 | 105112578 | 105112640 | Frame-shift |
| ENST00000469408 | 105112578 | 105112640 | Frame-shift |
| ENST00000356362 | 105142866 | 105143011 | Frame-shift |
| ENST00000469408 | 105142866 | 105143011 | Frame-shift |
| ENST00000356362 | 105146635 | 105146720 | Frame-shift |
| ENST00000469408 | 105146635 | 105146720 | Frame-shift |
| ENST00000356362 | 105105759 | 105105861 | In-frame |
| ENST00000469408 | 105105759 | 105105861 | In-frame |
| ENST00000356362 | 105122758 | 105122887 | In-frame |
| ENST00000469408 | 105122758 | 105122887 | In-frame |
| ENST00000356362 | 105146401 | 105146503 | In-frame |
| ENST00000469408 | 105146401 | 105146503 | 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 |
| ENST00000356362 | 105103067 | 105103197 | Frame-shift |
| ENST00000469408 | 105103067 | 105103197 | Frame-shift |
| ENST00000356362 | 105108783 | 105108910 | Frame-shift |
| ENST00000469408 | 105108783 | 105108910 | Frame-shift |
| ENST00000356362 | 105111134 | 105111295 | Frame-shift |
| ENST00000469408 | 105111134 | 105111295 | Frame-shift |
| ENST00000356362 | 105112578 | 105112640 | Frame-shift |
| ENST00000469408 | 105112578 | 105112640 | Frame-shift |
| ENST00000356362 | 105142866 | 105143011 | Frame-shift |
| ENST00000469408 | 105142866 | 105143011 | Frame-shift |
| ENST00000356362 | 105146635 | 105146720 | Frame-shift |
| ENST00000469408 | 105146635 | 105146720 | Frame-shift |
| ENST00000356362 | 105105759 | 105105861 | In-frame |
| ENST00000469408 | 105105759 | 105105861 | In-frame |
| ENST00000356362 | 105122758 | 105122887 | In-frame |
| ENST00000469408 | 105122758 | 105122887 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PUS7 |
| 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 |
| ENST00000356362 | 3497 | 661 | 105146401 | 105146503 | 699 | 800 | 161 | 195 |
| ENST00000469408 | 2373 | 661 | 105146401 | 105146503 | 723 | 824 | 161 | 195 |
| ENST00000356362 | 3497 | 661 | 105122758 | 105122887 | 1136 | 1264 | 307 | 349 |
| ENST00000469408 | 2373 | 661 | 105122758 | 105122887 | 1160 | 1288 | 307 | 349 |
| ENST00000356362 | 3497 | 661 | 105105759 | 105105861 | 1741 | 1842 | 508 | 542 |
| ENST00000469408 | 2373 | 661 | 105105759 | 105105861 | 1765 | 1866 | 508 | 542 |
| 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 |
| ENST00000356362 | 3497 | 661 | 105122758 | 105122887 | 1136 | 1264 | 307 | 349 |
| ENST00000469408 | 2373 | 661 | 105122758 | 105122887 | 1160 | 1288 | 307 | 349 |
| ENST00000356362 | 3497 | 661 | 105105759 | 105105861 | 1741 | 1842 | 508 | 542 |
| ENST00000469408 | 2373 | 661 | 105105759 | 105105861 | 1765 | 1866 | 508 | 542 |
| 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 |
| Q96PZ0 | 161 | 195 | 192 | 195 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 161 | 195 | 192 | 195 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 161 | 195 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 161 | 195 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 161 | 195 | 166 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 161 | 195 | 166 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 321 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 321 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 342 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 342 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 307 | 349 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 307 | 349 | 310 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 310 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 316 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 316 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 510 | 513 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 510 | 513 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 516 | 518 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 516 | 518 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 527 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 527 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 533 | 535 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 533 | 535 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 508 | 542 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 508 | 542 | 370 | 580 | Domain | Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00342 |
| Q96PZ0 | 508 | 542 | 370 | 580 | Domain | Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00342 |
| Q96PZ0 | 508 | 542 | 519 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 519 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 524 | 526 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 524 | 526 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| 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 |
| Q96PZ0 | 307 | 349 | 321 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 321 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 342 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 342 | 351 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 307 | 349 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 307 | 349 | 310 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 310 | 315 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 316 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 307 | 349 | 316 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 510 | 513 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 510 | 513 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 516 | 518 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 516 | 518 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 527 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 527 | 531 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 533 | 535 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 533 | 535 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 508 | 542 | 1 | 661 | Chain | ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog |
| Q96PZ0 | 508 | 542 | 370 | 580 | Domain | Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00342 |
| Q96PZ0 | 508 | 542 | 370 | 580 | Domain | Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00342 |
| Q96PZ0 | 508 | 542 | 519 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 519 | 521 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 524 | 526 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
| Q96PZ0 | 508 | 542 | 524 | 526 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKP |
Top |
SNVs in the skipped exons for PUS7 |
| - 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. |
PUS7_COAD_exon_skip_478774_psi_boxplot.png |
PUS7_LUAD_exon_skip_478774_psi_boxplot.png |
PUS7_READ_exon_skip_478774_psi_boxplot.png |
PUS7_STAD_exon_skip_478774_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-DD-A1EG-01 | exon_skip_478747 | 105099615 | 105099706 | 105099618 | 105099618 | Frame_Shift_Del | A | - | p.S616fs |
| COAD | TCGA-AD-6889-01 | exon_skip_478774 | 105111135 | 105111295 | 105111209 | 105111209 | Frame_Shift_Del | T | - | p.R442fs |
| COAD | TCGA-AD-6889-01 | exon_skip_478776 | 105111208 | 105111295 | 105111209 | 105111209 | Frame_Shift_Del | T | - | p.R442fs |
| COAD | TCGA-D5-6930-01 | exon_skip_478774 | 105111135 | 105111295 | 105111289 | 105111289 | Frame_Shift_Del | T | - | p.K415fs |
| COAD | TCGA-D5-6930-01 | exon_skip_478776 | 105111208 | 105111295 | 105111289 | 105111289 | Frame_Shift_Del | T | - | p.K415fs |
| KIRC | TCGA-B2-3924-01 | exon_skip_478780 | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N333fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_478780 | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N333fs |
| STAD | TCGA-BR-4361-01 | exon_skip_478780 | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N333fs |
| STAD | TCGA-BR-4361-01 | exon_skip_478780 | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N339fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_478783 | 105142867 | 105143011 | 105142878 | 105142878 | Frame_Shift_Del | T | - | p.K240fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_478783 | 105142867 | 105143011 | 105142928 | 105142929 | Frame_Shift_Del | CT | - | p.E223fs |
| LUAD | TCGA-91-6829-01 | exon_skip_478774 | 105111135 | 105111295 | 105111238 | 105111239 | Frame_Shift_Ins | - | A | p.C432fs |
| LUAD | TCGA-91-6829-01 | exon_skip_478774 | 105111135 | 105111295 | 105111238 | 105111239 | Frame_Shift_Ins | - | A | p.T432fs |
| LUAD | TCGA-91-6829-01 | exon_skip_478776 | 105111208 | 105111295 | 105111238 | 105111239 | Frame_Shift_Ins | - | A | p.C432fs |
| LUAD | TCGA-91-6829-01 | exon_skip_478776 | 105111208 | 105111295 | 105111238 | 105111239 | Frame_Shift_Ins | - | A | p.T432fs |
| COAD | TCGA-CA-6718-01 | exon_skip_478750 | 105103068 | 105103197 | 105103129 | 105103129 | Nonsense_Mutation | G | A | p.R566X |
| UCEC | TCGA-B5-A11N-01 | exon_skip_478750 | 105103068 | 105103197 | 105103129 | 105103129 | Nonsense_Mutation | G | A | p.R566* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_478750 | 105103068 | 105103197 | 105103129 | 105103129 | Nonsense_Mutation | G | A | p.R566* |
| BLCA | TCGA-BT-A3PH-01 | exon_skip_478774 | 105111135 | 105111295 | 105111175 | 105111175 | Nonsense_Mutation | G | C | p.S453* |
| STAD | TCGA-BR-8680-01 | exon_skip_478774 | 105111135 | 105111295 | 105111185 | 105111185 | Nonsense_Mutation | G | A | p.R450* |
| STAD | TCGA-BR-8680-01 | exon_skip_478774 | 105111135 | 105111295 | 105111185 | 105111185 | Nonsense_Mutation | G | A | p.R450X |
| HNSC | TCGA-BA-6869-01 | exon_skip_478774 | 105111135 | 105111295 | 105111200 | 105111200 | Nonsense_Mutation | C | A | p.E445* |
| READ | TCGA-F5-6814-01 | exon_skip_478774 | 105111135 | 105111295 | 105111266 | 105111266 | Nonsense_Mutation | C | A | p.E423X |
| READ | TCGA-F5-6814-01 | exon_skip_478776 | 105111208 | 105111295 | 105111266 | 105111266 | Nonsense_Mutation | C | A | p.E423X |
| UCEC | TCGA-AP-A051-01 | exon_skip_478774 | 105111135 | 105111295 | 105111266 | 105111266 | Nonsense_Mutation | C | A | p.E423* |
| UCEC | TCGA-AP-A051-01 | exon_skip_478776 | 105111208 | 105111295 | 105111266 | 105111266 | Nonsense_Mutation | C | A | p.E423* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_478774 | |
| Skipped exon start: 105111135 | |
| Skipped exon end: 105111295 | |
| Mutation start: 105111185 | |
| Mutation end: 105111185 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R450X | |
| Sample: TCGA-BR-8680-01 |
| Cancer type: STAD | |
| ESID: exon_skip_478774 | |
| Skipped exon start: 105111135 | |
| Skipped exon end: 105111295 | |
| Mutation start: 105111185 | |
| Mutation end: 105111185 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R450* | |
exon_skip_106946_STAD_TCGA-BR-8680-01.png | |
exon_skip_107215_STAD_TCGA-BR-8680-01.png | |
exon_skip_122567_STAD_TCGA-BR-8680-01.png | |
exon_skip_122573_STAD_TCGA-BR-8680-01.png | |
exon_skip_144294_STAD_TCGA-BR-8680-01.png | |
exon_skip_26878_STAD_TCGA-BR-8680-01.png | |
exon_skip_30156_STAD_TCGA-BR-8680-01.png | |
exon_skip_324648_STAD_TCGA-BR-8680-01.png | |
exon_skip_326437_STAD_TCGA-BR-8680-01.png | |
exon_skip_326558_STAD_TCGA-BR-8680-01.png | |
exon_skip_326569_STAD_TCGA-BR-8680-01.png | |
exon_skip_328488_STAD_TCGA-BR-8680-01.png | |
exon_skip_335090_STAD_TCGA-BR-8680-01.png | |
exon_skip_389166_STAD_TCGA-BR-8680-01.png | |
exon_skip_40432_STAD_TCGA-BR-8680-01.png | |
exon_skip_40460_STAD_TCGA-BR-8680-01.png | |
exon_skip_40461_STAD_TCGA-BR-8680-01.png | |
exon_skip_436498_STAD_TCGA-BR-8680-01.png | |
exon_skip_466512_STAD_TCGA-BR-8680-01.png | |
exon_skip_478774_STAD_TCGA-BR-8680-01.png | |
exon_skip_484956_STAD_TCGA-BR-8680-01.png | |
exon_skip_64135_STAD_TCGA-BR-8680-01.png | |
exon_skip_64136_STAD_TCGA-BR-8680-01.png | |
exon_skip_64137_STAD_TCGA-BR-8680-01.png | |
exon_skip_69365_STAD_TCGA-BR-8680-01.png | |
exon_skip_69375_STAD_TCGA-BR-8680-01.png | |
exon_skip_75101_STAD_TCGA-BR-8680-01.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 |
| SNUC4_LARGE_INTESTINE | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N333fs |
| SW48_LARGE_INTESTINE | 105122759 | 105122887 | 105122810 | 105122810 | Frame_Shift_Del | T | - | p.N333fs |
| SW480_LARGE_INTESTINE | 105099615 | 105099706 | 105099627 | 105099627 | Missense_Mutation | C | T | p.V613I |
| STS0421_SOFT_TISSUE | 105099615 | 105099706 | 105099630 | 105099630 | Missense_Mutation | G | T | p.P612T |
| HT55_LARGE_INTESTINE | 105103068 | 105103197 | 105103137 | 105103137 | Missense_Mutation | T | A | p.H563L |
| SNUC2A_LARGE_INTESTINE | 105103068 | 105103197 | 105103174 | 105103174 | Missense_Mutation | G | T | p.L551I |
| SNUC2B_LARGE_INTESTINE | 105103068 | 105103197 | 105103174 | 105103174 | Missense_Mutation | G | T | p.L551I |
| SNU81_LARGE_INTESTINE | 105108784 | 105108910 | 105108840 | 105108840 | Missense_Mutation | T | G | p.K490T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105111135 | 105111295 | 105111172 | 105111172 | Missense_Mutation | T | C | p.K454R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 105111135 | 105111295 | 105111172 | 105111172 | Missense_Mutation | T | C | p.K454R |
| NCIH810_LUNG | 105111135 | 105111295 | 105111211 | 105111211 | Missense_Mutation | T | C | p.K441R |
| NCIH810_LUNG | 105111208 | 105111295 | 105111211 | 105111211 | Missense_Mutation | T | C | p.K441R |
| MFE319_ENDOMETRIUM | 105122759 | 105122887 | 105122795 | 105122795 | Missense_Mutation | C | A | p.G338V |
| HMCB_SKIN | 105122759 | 105122887 | 105122808 | 105122808 | Missense_Mutation | G | A | p.P334S |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105142867 | 105143011 | 105142902 | 105142902 | Missense_Mutation | A | G | p.V232A |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105142867 | 105143011 | 105142974 | 105142974 | Missense_Mutation | T | C | p.H208R |
| HCE4_OESOPHAGUS | 105142867 | 105143011 | 105142995 | 105142995 | Missense_Mutation | T | C | p.K201R |
| NCIH1355_LUNG | 105146402 | 105146503 | 105146410 | 105146410 | Missense_Mutation | C | A | p.A193S |
| NCIH650_LUNG | 105099615 | 105099706 | 105099705 | 105099705 | Splice_Site | C | - | p.E587fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PUS7 |
| 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 PUS7 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PUS7 |
Top |
RelatedDrugs for PUS7 |
| 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 PUS7 |
| 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)
|