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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 PDIK1L |
 Gene summary |
| Gene information | Gene symbol | PDIK1L | Gene ID | 149420 |
| Gene name | PDLIM1 interacting kinase 1 like | |
| Synonyms | CLIK1L|STK35L2 | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase PDIK1Lcasein kinase | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N165 | |
| Context | PubMed: PDIK1L [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 PDIK1L 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 PDIK1L |
| 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 PDIK1L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2820 | 1 | 26438339:26438406:26438950:26439141:26440782:26440802 | 26438950:26439141 | ENSG00000175087.5 | ENST00000374271.4 |
| exon_skip_2822 | 1 | 26438339:26438406:26440782:26441084:26448327:26448615 | 26440782:26441084 | ENSG00000175087.5 | ENST00000374269.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDIK1L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2820 | 1 | 26438339:26438406:26438950:26439141:26440782:26440802 | 26438950:26439141 | ENSG00000175087.5 | ENST00000374271.4 |
| exon_skip_2822 | 1 | 26438339:26438406:26440782:26441084:26448327:26448615 | 26440782:26441084 | ENSG00000175087.5 | ENST00000374269.1 |
| 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 PDIK1L |
| 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 |
| ENST00000374269 | 26440782 | 26441084 | 5CDS-5UTR |
| ENST00000374271 | 26438950 | 26439141 | 5UTR-5UTR |
| 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 |
| ENST00000374269 | 26440782 | 26441084 | 5CDS-5UTR |
| ENST00000374271 | 26438950 | 26439141 | 5UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for PDIK1L |
| 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 PDIK1L |
| - 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_2822 | 26440783 | 26441084 | 26440911 | 26440911 | Frame_Shift_Del | A | - | p.K38fs |
| COAD | TCGA-A6-5661-01 | exon_skip_2822 | 26440783 | 26441084 | 26440923 | 26440924 | Frame_Shift_Del | CA | - | p.41_42del |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_2822 | 26440783 | 26441084 | 26440917 | 26440917 | Nonsense_Mutation | C | T | p.R40* |
| - 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 |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 26440783 | 26441084 | 26440827 | 26440827 | Missense_Mutation | C | A | p.L10I |
| EN_ENDOMETRIUM | 26440783 | 26441084 | 26440855 | 26440855 | Missense_Mutation | A | G | p.Y19C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26440783 | 26441084 | 26440873 | 26440873 | Missense_Mutation | C | T | p.A25V |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26440783 | 26441084 | 26440918 | 26440918 | Missense_Mutation | G | T | p.R40L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDIK1L |
| 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 PDIK1L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDIK1L |
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RelatedDrugs for PDIK1L |
| 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 PDIK1L |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PDIK1L | C0036341 | Schizophrenia | 2 | PSYGENET |
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