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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 COPS5 |
Gene summary |
Gene information | Gene symbol | COPS5 | Gene ID | 10987 |
Gene name | COP9 signalosome subunit 5 | |
Synonyms | CSN5|JAB1|MOV-34|SGN5 | |
Cytomap | 8q13.1 | |
Type of gene | protein-coding | |
Description | COP9 signalosome complex subunit 538 kDa Mov34 homologCOP9 constitutive photomorphogenic homolog subunit 5jun activation domain-binding protein 1signalosome subunit 5testis secretory sperm-binding protein Li 231m | |
Modification date | 20180527 | |
UniProtAcc | Q92905 | |
Context | PubMed: COPS5 [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 |
COPS5 | GO:0000338 | protein deneddylation | 19141280 |
COPS5 | GO:0016579 | protein deubiquitination | 19246649 |
COPS5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16410250 |
COPS5 | GO:0046328 | regulation of JNK cascade | 16410250 |
COPS5 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 20978819 |
COPS5 | GO:1990182 | exosomal secretion | 19246649 |
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Exon skipping events across known transcript of Ensembl for COPS5 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 COPS5 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for COPS5 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_490135 | 8 | 67958046:67958195:67959919:67960094:67963464:67963576 | 67959919:67960094 | ENSG00000121022.9 | ENST00000523086.1 |
exon_skip_490136 | 8 | 67958046:67958195:67960002:67960094:67963464:67963576 | 67960002:67960094 | ENSG00000121022.9 | ENST00000517736.1 |
exon_skip_490137 | 8 | 67969614:67969680:67970317:67970446:67971445:67971680 | 67970317:67970446 | ENSG00000121022.9 | ENST00000518374.1,ENST00000521386.1,ENST00000521509.1,ENST00000518747.1,ENST00000517736.1,ENST00000523890.1,ENST00000357849.4 |
exon_skip_490142 | 8 | 67971650:67971680:67972555:67972780:67974088:67974259 | 67972555:67972780 | ENSG00000121022.9 | ENST00000517406.1 |
exon_skip_490147 | 8 | 67971650:67971680:67972731:67972780:67974088:67974259 | 67972731:67972780 | ENSG00000121022.9 | ENST00000518374.1 |
exon_skip_490149 | 8 | 67971650:67971680:67973526:67973657:67974088:67974259 | 67973526:67973657 | ENSG00000121022.9 | ENST00000523890.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for COPS5 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_490135 | 8 | 67958046:67958195:67959919:67960094:67963464:67963576 | 67959919:67960094 | ENSG00000121022.9 | ENST00000523086.1 |
exon_skip_490136 | 8 | 67958046:67958195:67960002:67960094:67963464:67963576 | 67960002:67960094 | ENSG00000121022.9 | ENST00000517736.1 |
exon_skip_490137 | 8 | 67969614:67969680:67970317:67970446:67971445:67971680 | 67970317:67970446 | ENSG00000121022.9 | ENST00000357849.4,ENST00000521509.1,ENST00000517736.1,ENST00000521386.1,ENST00000518374.1,ENST00000523890.1,ENST00000518747.1 |
exon_skip_490142 | 8 | 67971650:67971680:67972555:67972780:67974088:67974259 | 67972555:67972780 | ENSG00000121022.9 | ENST00000517406.1 |
exon_skip_490147 | 8 | 67971650:67971680:67972731:67972780:67974088:67974259 | 67972731:67972780 | ENSG00000121022.9 | ENST00000518374.1 |
exon_skip_490149 | 8 | 67971650:67971680:67973526:67973657:67974088:67974259 | 67973526:67973657 | ENSG00000121022.9 | ENST00000523890.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for COPS5 |
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 |
ENST00000357849 | 67970317 | 67970446 | 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 |
ENST00000357849 | 67970317 | 67970446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COPS5 |
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 |
ENST00000357849 | 1497 | 334 | 67970317 | 67970446 | 700 | 828 | 126 | 169 |
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 |
ENST00000357849 | 1497 | 334 | 67970317 | 67970446 | 700 | 828 | 126 | 169 |
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 |
Q92905 | 126 | 169 | 132 | 139 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 166 | 170 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 2 | 334 | Chain | ID=PRO_0000194835;Note=COP9 signalosome complex subunit 5 |
Q92905 | 126 | 169 | 55 | 192 | Domain | Note=MPN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 111 | 126 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 149 | 161 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 138 | 138 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 140 | 140 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 151 | 151 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 138 | 151 | Motif | Note=JAMM motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 138 | 138 | Mutagenesis | Note=Abolishes ability to deneddylate cullins%2C without affecting the 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19214193;Dbxref=PMID:19214193 |
Q92905 | 126 | 169 | 129 | 129 | Sequence conflict | Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q92905 | 126 | 169 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
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 |
Q92905 | 126 | 169 | 132 | 139 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 166 | 170 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 2 | 334 | Chain | ID=PRO_0000194835;Note=COP9 signalosome complex subunit 5 |
Q92905 | 126 | 169 | 55 | 192 | Domain | Note=MPN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 111 | 126 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 149 | 161 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
Q92905 | 126 | 169 | 138 | 138 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 140 | 140 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 151 | 151 | Metal binding | Note=Zinc%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 138 | 151 | Motif | Note=JAMM motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01182 |
Q92905 | 126 | 169 | 138 | 138 | Mutagenesis | Note=Abolishes ability to deneddylate cullins%2C without affecting the 'Lys-63'-specific deubiquitination associated with the COP9 signalosome complex. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19214193;Dbxref=PMID:19214193 |
Q92905 | 126 | 169 | 129 | 129 | Sequence conflict | Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q92905 | 126 | 169 | 141 | 143 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JOH |
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SNVs in the skipped exons for COPS5 |
- 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 |
- 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 |
HCC2998_LARGE_INTESTINE | 67970318 | 67970446 | 67970331 | 67970331 | Missense_Mutation | A | C | p.F165C |
HCC1569_BREAST | 67970318 | 67970446 | 67970415 | 67970415 | Missense_Mutation | T | C | p.Y137C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COPS5 |
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 COPS5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COPS5 |
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RelatedDrugs for COPS5 |
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 COPS5 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
COPS5 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
COPS5 | C2239176 | Liver carcinoma | 1 | CTD_human |