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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 PDE6G |
 Gene summary |
| Gene information | Gene symbol | PDE6G | Gene ID | 5148 |
| Gene name | phosphodiesterase 6G | |
| Synonyms | PDEG|RP57 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaGMP-PDE gammaphosphodiesterase 6G, cGMP-specific, rod, gammarod cG-PDE G | |
| Modification date | 20180522 | |
| UniProtAcc | P18545 | |
| Context | PubMed: PDE6G [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 PDE6G 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 PDE6G |
| 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 PDE6G |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294498 | 17 | 79618674:79618715:79620189:79620394:79623522:79623601 | 79620189:79620394 | ENSG00000185527.7 | ENST00000573076.1,ENST00000331056.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDE6G |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294498 | 17 | 79618674:79618715:79620189:79620394:79623522:79623601 | 79620189:79620394 | ENSG00000185527.7 | ENST00000573076.1,ENST00000331056.5 |
| exon_skip_294499 | 17 | 79618674:79618715:79620189:79620394:79630088:79630134 | 79620189:79620394 | ENSG00000185527.7 | ENST00000571224.1 |
| 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 PDE6G |
| 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 |
| ENST00000331056 | 79620189 | 79620394 | 3UTR-3CDS |
| 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 |
| ENST00000331056 | 79620189 | 79620394 | 3UTR-3CDS |
| ENST00000571224 | 79620189 | 79620394 | 3UTR-3CDS |
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Infer the effects of exon skipping event on protein functional features for PDE6G |
| 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 PDE6G |
| - 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 |
| BRCA | TCGA-A2-A0T0-01 | exon_skip_294498 | 79620190 | 79620394 | 79620348 | 79620348 | Frame_Shift_Del | G | - | p.V47fs |
| - 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 |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 79620190 | 79620394 | 79620193 | 79620193 | Missense_Mutation | T | C | p.Q48R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDE6G |
| 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 PDE6G |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDE6G |
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RelatedDrugs for PDE6G |
| 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 |
| P18545 | DB00862 | Vardenafil | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | small molecule | approved | |
| P18545 | DB00203 | Sildenafil | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | small molecule | approved|investigational |
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RelatedDiseases for PDE6G |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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