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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 PDCL |
 Gene summary |
| Gene information | Gene symbol | PDCL | Gene ID | 5082 |
| Gene name | phosducin like | |
| Synonyms | PhLP | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | phosducin-like protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q13371 | |
| Context | PubMed: PDCL [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 PDCL 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 PDCL |
| 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 PDCL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506694 | 9 | 125580622:125582915:125585294:125585476:125588894:125588965 | 125585294:125585476 | ENSG00000136940.9 | ENST00000259467.4 |
| exon_skip_506696 | 9 | 125585294:125585476:125588894:125589071:125590749:125590910 | 125588894:125589071 | ENSG00000136940.9 | ENST00000259467.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDCL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506694 | 9 | 125580622:125582915:125585294:125585476:125588894:125588965 | 125585294:125585476 | ENSG00000136940.9 | ENST00000259467.4 |
| exon_skip_506696 | 9 | 125585294:125585476:125588894:125589071:125590749:125590910 | 125588894:125589071 | ENSG00000136940.9 | ENST00000259467.4 |
| 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 PDCL |
| 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 |
| ENST00000259467 | 125588894 | 125589071 | 3UTR-3CDS |
| ENST00000259467 | 125585294 | 125585476 | 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 |
| ENST00000259467 | 125588894 | 125589071 | 3UTR-3CDS |
| ENST00000259467 | 125585294 | 125585476 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PDCL |
| 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 PDCL |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_506696 | 125588895 | 125589071 | 125589036 | 125589036 | Frame_Shift_Del | C | - | p.E11fs |
| LUSC | TCGA-18-3409-01 | exon_skip_506694 | 125585295 | 125585476 | 125585315 | 125585315 | Nonsense_Mutation | G | A | p.Q112* |
| BLCA | TCGA-DK-AA6X-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32* |
| BLCA | TCGA-ZF-A9R3-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32* |
| CHOL | TCGA-W5-AA2O-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32* |
| CHOL | TCGA-W5-AA2O-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32X |
| HNSC | TCGA-CV-7568-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32* |
| UCEC | TCGA-AP-A051-01 | exon_skip_506696 | 125588895 | 125589071 | 125588973 | 125588973 | Nonsense_Mutation | G | A | p.R32* |
| BLCA | TCGA-FD-A3SQ-01 | exon_skip_506694 | 125585295 | 125585476 | 125585294 | 125585294 | Splice_Site | C | A | p.K118_splice |
| - 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 |
| DOV13_OVARY | 125585295 | 125585476 | 125585392 | 125585392 | Missense_Mutation | C | A | p.R86M |
| HS294T_SKIN | 125585295 | 125585476 | 125585392 | 125585392 | Missense_Mutation | C | A | p.R86M |
| SNU175_LARGE_INTESTINE | 125585295 | 125585476 | 125585404 | 125585404 | Missense_Mutation | C | T | p.R82Q |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125585295 | 125585476 | 125585446 | 125585446 | Missense_Mutation | C | T | p.R68H |
| SNU1040_LARGE_INTESTINE | 125585295 | 125585476 | 125585446 | 125585446 | Missense_Mutation | C | T | p.R68H |
| JHH2_LIVER | 125585295 | 125585476 | 125585462 | 125585462 | Missense_Mutation | T | A | p.I63F |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 125585295 | 125585476 | 125585465 | 125585465 | Missense_Mutation | C | T | p.V62M |
| CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125588895 | 125589071 | 125589017 | 125589017 | Missense_Mutation | T | C | p.Y17C |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125588895 | 125589071 | 125589050 | 125589050 | Missense_Mutation | T | C | p.D6G |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125588895 | 125589071 | 125589050 | 125589050 | Missense_Mutation | T | C | p.D6G |
| NCIH2461_PLEURA | 125588895 | 125589071 | 125589051 | 125589051 | Missense_Mutation | C | T | p.D6N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125585295 | 125585476 | 125585475 | 125585475 | Splice_Site | G | A | p.G58G |
| S117_SOFT_TISSUE | 125585295 | 125585476 | 125585475 | 125585475 | Splice_Site | G | A | p.G58G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDCL |
| 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 PDCL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDCL |
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RelatedDrugs for PDCL |
| 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 PDCL |
| 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)
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