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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 EXOSC8 |
 Gene summary |
| Gene information | Gene symbol | EXOSC8 | Gene ID | 11340 |
| Gene name | exosome component 8 | |
| Synonyms | CIP3|EAP2|OIP2|PCH1C|RRP43|Rrp43p|bA421P11.3|p9 | |
| Cytomap | 13q13.3 | |
| Type of gene | protein-coding | |
| Description | exosome complex component RRP43CBP-interacting protein 3OIP-2Opa interacting protein 2exosome complex exonuclease RRP43ribosomal RNA-processing protein 43 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96B26 | |
| Context | PubMed: EXOSC8 [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 EXOSC8 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 EXOSC8 |
| 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 EXOSC8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99805 | 13 | 37574923:37574959:37575885:37575938:37576409:37576446 | 37575885:37575938 | ENSG00000120699.8 | ENST00000474661.1 |
| exon_skip_99811 | 13 | 37574923:37574959:37576409:37576446:37576624:37576688 | 37576409:37576446 | ENSG00000120699.8 | ENST00000490537.2,ENST00000389704.3 |
| exon_skip_99813 | 13 | 37575885:37575938:37576409:37576446:37576624:37576688 | 37576409:37576446 | ENSG00000120699.8 | ENST00000474661.1,ENST00000488108.1 |
| exon_skip_99816 | 13 | 37576624:37576688:37577070:37577144:37578652:37578662 | 37577070:37577144 | ENSG00000120699.8 | ENST00000474661.1,ENST00000489088.1,ENST00000389704.3,ENST00000239893.5 |
| exon_skip_99822 | 13 | 37577070:37577144:37577631:37577654:37578613:37578698 | 37577631:37577654 | ENSG00000120699.8 | ENST00000464235.1 |
| exon_skip_99824 | 13 | 37577070:37577144:37577631:37577654:37578652:37578662 | 37577631:37577654 | ENSG00000120699.8 | ENST00000470423.1 |
| exon_skip_99827 | 13 | 37577070:37577144:37578613:37578698:37580056:37580162 | 37578613:37578698 | ENSG00000120699.8 | ENST00000488779.1 |
| exon_skip_99829 | 13 | 37577070:37577144:37578652:37578698:37580056:37580162 | 37578652:37578698 | ENSG00000120699.8 | ENST00000474661.1,ENST00000489088.1,ENST00000389704.3,ENST00000239893.5 |
| exon_skip_99832 | 13 | 37580093:37580162:37580251:37580297:37581111:37581208 | 37580251:37580297 | ENSG00000120699.8 | ENST00000474661.1,ENST00000464235.1,ENST00000495092.1,ENST00000490537.2,ENST00000389704.3,ENST00000488779.1,ENST00000239893.5 |
| exon_skip_99835 | 13 | 37582198:37582314:37582865:37582972:37583320:37583538 | 37582865:37582972 | ENSG00000120699.8 | ENST00000490537.2,ENST00000389704.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EXOSC8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99805 | 13 | 37574923:37574959:37575885:37575938:37576409:37576446 | 37575885:37575938 | ENSG00000120699.8 | ENST00000474661.1 |
| exon_skip_99811 | 13 | 37574923:37574959:37576409:37576446:37576624:37576688 | 37576409:37576446 | ENSG00000120699.8 | ENST00000389704.3,ENST00000490537.2 |
| exon_skip_99813 | 13 | 37575885:37575938:37576409:37576446:37576624:37576688 | 37576409:37576446 | ENSG00000120699.8 | ENST00000474661.1,ENST00000488108.1 |
| exon_skip_99816 | 13 | 37576624:37576688:37577070:37577144:37578652:37578662 | 37577070:37577144 | ENSG00000120699.8 | ENST00000489088.1,ENST00000389704.3,ENST00000239893.5,ENST00000474661.1 |
| exon_skip_99822 | 13 | 37577070:37577144:37577631:37577654:37578613:37578698 | 37577631:37577654 | ENSG00000120699.8 | ENST00000464235.1 |
| exon_skip_99824 | 13 | 37577070:37577144:37577631:37577654:37578652:37578662 | 37577631:37577654 | ENSG00000120699.8 | ENST00000470423.1 |
| exon_skip_99827 | 13 | 37577070:37577144:37578613:37578698:37580056:37580162 | 37578613:37578698 | ENSG00000120699.8 | ENST00000488779.1 |
| exon_skip_99829 | 13 | 37577070:37577144:37578652:37578698:37580056:37580162 | 37578652:37578698 | ENSG00000120699.8 | ENST00000489088.1,ENST00000389704.3,ENST00000239893.5,ENST00000474661.1 |
| exon_skip_99832 | 13 | 37580093:37580162:37580251:37580297:37581111:37581208 | 37580251:37580297 | ENSG00000120699.8 | ENST00000389704.3,ENST00000239893.5,ENST00000474661.1,ENST00000490537.2,ENST00000464235.1,ENST00000488779.1,ENST00000495092.1 |
| exon_skip_99835 | 13 | 37582198:37582314:37582865:37582972:37583320:37583538 | 37582865:37582972 | ENSG00000120699.8 | ENST00000389704.3,ENST00000490537.2 |
| 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 EXOSC8 |
| 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 |
| ENST00000389704 | 37576409 | 37576446 | Frame-shift |
| ENST00000389704 | 37577070 | 37577144 | Frame-shift |
| ENST00000389704 | 37578652 | 37578698 | Frame-shift |
| ENST00000389704 | 37580251 | 37580297 | Frame-shift |
| ENST00000389704 | 37582865 | 37582972 | Frame-shift |
| 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 |
| ENST00000389704 | 37576409 | 37576446 | Frame-shift |
| ENST00000389704 | 37577070 | 37577144 | Frame-shift |
| ENST00000389704 | 37578652 | 37578698 | Frame-shift |
| ENST00000389704 | 37580251 | 37580297 | Frame-shift |
| ENST00000389704 | 37582865 | 37582972 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EXOSC8 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for EXOSC8 |
| - 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 |
| HNSC | TCGA-CN-4734-01 | exon_skip_99829 exon_skip_99827 | 37578614 | 37578698 | 37578686 | 37578686 | Frame_Shift_Del | A | - | p.K76fs |
| HNSC | TCGA-CN-4734-01 | exon_skip_99829 exon_skip_99827 | 37578653 | 37578698 | 37578686 | 37578686 | Frame_Shift_Del | A | - | p.K76fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_99832 | 37580252 | 37580297 | 37580294 | 37580294 | Frame_Shift_Del | A | - | p.G129fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_99832 | 37580252 | 37580297 | 37580294 | 37580294 | Frame_Shift_Del | A | - | p.K130fs |
| BLCA | TCGA-KQ-A41O-01 | exon_skip_99832 | 37580252 | 37580297 | 37580265 | 37580265 | Nonsense_Mutation | C | T | p.Q120* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CN-4734-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_99827 | |
| Skipped exon start: 37578653 | |
| Skipped exon end: 37578698 | |
| Mutation start: 37578686 | |
| Mutation end: 37578686 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K76fs | |
| Sample: TCGA-CN-4734-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_99827 | |
| Skipped exon start: 37578614 | |
| Skipped exon end: 37578698 | |
| Mutation start: 37578686 | |
| Mutation end: 37578686 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K76fs | |
exon_skip_99827_HNSC_TCGA-CN-4734-01.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 |
| IM95_STOMACH | 37576410 | 37576446 | 37576435 | 37576437 | In_Frame_Del | AGG | - | p.R16del |
| SW756_CERVIX | 37576410 | 37576446 | 37576426 | 37576426 | Missense_Mutation | G | C | p.E12Q |
| GMEL_SKIN | 37578653 | 37578698 | 37578680 | 37578680 | Missense_Mutation | C | T | p.P74S |
| GMEL_SKIN | 37578614 | 37578698 | 37578680 | 37578680 | Missense_Mutation | C | T | p.P74S |
| C2BBE1_LARGE_INTESTINE | 37578653 | 37578698 | 37578690 | 37578690 | Missense_Mutation | G | A | p.G77E |
| C2BBE1_LARGE_INTESTINE | 37578614 | 37578698 | 37578690 | 37578690 | Missense_Mutation | G | A | p.G77E |
| CACO2_LARGE_INTESTINE | 37578653 | 37578698 | 37578690 | 37578690 | Missense_Mutation | G | A | p.G77E |
| CACO2_LARGE_INTESTINE | 37578614 | 37578698 | 37578690 | 37578690 | Missense_Mutation | G | A | p.G77E |
| OCUM1_STOMACH | 37582866 | 37582972 | 37582965 | 37582965 | Missense_Mutation | C | A | p.H236Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXOSC8 |
| 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 EXOSC8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EXOSC8 |
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RelatedDrugs for EXOSC8 |
| 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 EXOSC8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EXOSC8 | C4015160 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | 1 | UNIPROT |
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