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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 PPP1R14A |
 Gene summary |
| Gene information | Gene symbol | PPP1R14A | Gene ID | 94274 |
| Gene name | protein phosphatase 1 regulatory inhibitor subunit 14A | |
| Synonyms | CPI-17|CPI17|PPP1INL | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | protein phosphatase 1 regulatory subunit 14A17 kDa PKC-potentiated inhibitory protein of PP117-KDa proteinPKC-potentiated inhibitory protein of PP1protein kinase C-potentiated inhibitor protein of 17 kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q96A00 | |
| Context | PubMed: PPP1R14A [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 PPP1R14A 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 PPP1R14A |
| 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 PPP1R14A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318033 | 19 | 38741876:38742086:38742945:38742978:38743533:38743614 | 38742945:38742978 | ENSG00000167641.6 | ENST00000301242.4 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENSG00000167641.6 | ENST00000591585.1,ENST00000301242.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPP1R14A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318033 | 19 | 38741876:38742086:38742945:38742978:38743533:38743614 | 38742945:38742978 | ENSG00000167641.6 | ENST00000301242.4 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENSG00000167641.6 | ENST00000301242.4,ENST00000591585.1 |
| 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 PPP1R14A |
| 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 |
| ENST00000301242 | 38742945 | 38742978 | In-frame |
| ENST00000301242 | 38743533 | 38743614 | 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 |
| ENST00000301242 | 38742945 | 38742978 | In-frame |
| ENST00000301242 | 38743533 | 38743614 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPP1R14A |
| 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 |
| ENST00000301242 | 794 | 147 | 38743533 | 38743614 | 454 | 534 | 67 | 94 |
| ENST00000301242 | 794 | 147 | 38742945 | 38742978 | 535 | 567 | 94 | 105 |
| 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 |
| ENST00000301242 | 794 | 147 | 38743533 | 38743614 | 454 | 534 | 67 | 94 |
| ENST00000301242 | 794 | 147 | 38742945 | 38742978 | 535 | 567 | 94 | 105 |
| 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 |
| Q96A00 | 67 | 94 | 68 | 94 | Alternative sequence | ID=VSP_011841;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11467857;Dbxref=PMID:11467857 |
| Q96A00 | 67 | 94 | 1 | 147 | Chain | ID=PRO_0000071486;Note=Protein phosphatase 1 regulatory subunit 14A |
| Q96A00 | 67 | 94 | 35 | 120 | Region | Note=Inhibitory |
| Q96A00 | 94 | 105 | 68 | 94 | Alternative sequence | ID=VSP_011841;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11467857;Dbxref=PMID:11467857 |
| Q96A00 | 94 | 105 | 1 | 147 | Chain | ID=PRO_0000071486;Note=Protein phosphatase 1 regulatory subunit 14A |
| Q96A00 | 94 | 105 | 35 | 120 | Region | Note=Inhibitory |
| 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 |
| Q96A00 | 67 | 94 | 68 | 94 | Alternative sequence | ID=VSP_011841;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11467857;Dbxref=PMID:11467857 |
| Q96A00 | 67 | 94 | 1 | 147 | Chain | ID=PRO_0000071486;Note=Protein phosphatase 1 regulatory subunit 14A |
| Q96A00 | 67 | 94 | 35 | 120 | Region | Note=Inhibitory |
| Q96A00 | 94 | 105 | 68 | 94 | Alternative sequence | ID=VSP_011841;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11467857;Dbxref=PMID:11467857 |
| Q96A00 | 94 | 105 | 1 | 147 | Chain | ID=PRO_0000071486;Note=Protein phosphatase 1 regulatory subunit 14A |
| Q96A00 | 94 | 105 | 35 | 120 | Region | Note=Inhibitory |
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SNVs in the skipped exons for PPP1R14A |
| - 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-B6-A0RH-01 | exon_skip_318035 | 38743534 | 38743614 | 38743550 | 38743554 | Frame_Shift_Del | CTCTC | - | p.E88fs |
| SKCM | TCGA-GN-A266-06 | exon_skip_318035 | 38743534 | 38743614 | 38743536 | 38743536 | Nonsense_Mutation | G | A | p.Q94* |
| SKCM | TCGA-GN-A266-06 | exon_skip_318035 | 38743534 | 38743614 | 38743536 | 38743536 | Nonsense_Mutation | G | A | p.Q94X |
| - 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 |
| SW626_OVARY | 38742946 | 38742978 | 38742963 | 38742963 | Missense_Mutation | A | G | p.C100R |
| ABC1_LUNG | 38743534 | 38743614 | 38743599 | 38743599 | Missense_Mutation | C | T | p.D73N |
| SNU1040_LARGE_INTESTINE | 38743534 | 38743614 | 38743603 | 38743603 | Missense_Mutation | C | T | p.M71I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R14A |
| 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 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | GBM | rs10993 | chr19:38743591 | A/C | 3.54e-24 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | COAD | rs10993 | chr19:38743591 | A/C | 5.92e-07 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | COAD | rs10993 | chr19:38743591 | A/C | 4.03e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | COAD | rs10993 | chr19:38743591 | A/C | 4.03e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BLCA | rs10993 | chr19:38743591 | A/C | 1.92e-07 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BLCA | rs10993 | chr19:38743591 | A/C | 2.24e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BLCA | rs10993 | chr19:38743591 | A/C | 5.53e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | ESCA | rs10993 | chr19:38743591 | A/C | 1.09e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | HNSC | rs10993 | chr19:38743591 | A/C | 1.82e-15 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | HNSC | rs10993 | chr19:38743591 | A/C | 1.29e-03 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | HNSC | rs10993 | chr19:38743591 | A/C | 2.02e-03 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BRCA | rs10993 | chr19:38743591 | A/C | 2.44e-07 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BRCA | rs10993 | chr19:38743591 | A/C | 2.06e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | BRCA | rs10993 | chr19:38743591 | A/C | 2.41e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | KIRP | rs10993 | chr19:38743591 | A/C | 7.61e-05 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | KIRP | rs10993 | chr19:38743591 | A/C | 1.51e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUAD | rs10993 | chr19:38743591 | A/C | 1.55e-12 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUAD | rs10993 | chr19:38743591 | A/C | 4.21e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUAD | rs10993 | chr19:38743591 | A/C | 9.56e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUSC | rs10993 | chr19:38743591 | A/C | 6.57e-12 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUSC | rs10993 | chr19:38743591 | A/C | 8.19e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | LUSC | rs10993 | chr19:38743591 | A/C | 8.19e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | OV | rs10993 | chr19:38743591 | A/C | 1.37e-28 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | PAAD | rs10993 | chr19:38743591 | A/C | 7.75e-11 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | PAAD | rs10993 | chr19:38743591 | A/C | 2.29e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | PAAD | rs10993 | chr19:38743591 | A/C | 2.29e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | PRAD | rs10993 | chr19:38743591 | A/C | 3.05e-10 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | PRAD | rs10993 | chr19:38743591 | A/C | 8.88e-10 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | STAD | rs10993 | chr19:38743591 | A/C | 1.37e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | STAD | rs10993 | chr19:38743591 | A/C | 1.37e-04 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | THCA | rs10993 | chr19:38743591 | A/C | 5.02e-07 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | THCA | rs10993 | chr19:38743591 | A/C | 1.27e-06 |
| exon_skip_318035 | 19 | 38742945:38742978:38743533:38743614:38746778:38747012 | 38743533:38743614 | ENST00000591585.1,ENST00000301242.4 | UCEC | rs10993 | chr19:38743591 | A/C | 5.38e-19 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP1R14A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP1R14A |
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RelatedDrugs for PPP1R14A |
| 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 PPP1R14A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PPP1R14A | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| PPP1R14A | C0025500 | Mesothelioma | 1 | CTD_human |
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