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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 PRKCH |
Gene summary |
Gene information | Gene symbol | PRKCH | Gene ID | 5583 |
Gene name | protein kinase C eta | |
Synonyms | PKC-L|PKCL|PRKCL|nPKC-eta | |
Cytomap | 14q23.1 | |
Type of gene | protein-coding | |
Description | protein kinase C eta type | |
Modification date | 20180523 | |
UniProtAcc | P24723 | |
Context | PubMed: PRKCH [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 PRKCH 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 PRKCH |
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 PRKCH |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_107180 | 14 | 61747901:61748026:61857942:61858006:61909828:61909929 | 61857942:61858006 | ENSG00000027075.9 | ENST00000555542.1 |
exon_skip_107181 | 14 | 61788434:61789182:61857942:61858006:61909828:61909929 | 61857942:61858006 | ENSG00000027075.9 | ENST00000332981.5 |
exon_skip_107182 | 14 | 61857942:61858006:61909828:61909979:61912409:61912439 | 61909828:61909979 | ENSG00000027075.9 | ENST00000555906.1,ENST00000332981.5,ENST00000556164.1,ENST00000555082.1,ENST00000553265.1,ENST00000553831.1,ENST00000553830.1,ENST00000557585.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKCH |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_107180 | 14 | 61747901:61748026:61857942:61858006:61909828:61909929 | 61857942:61858006 | ENSG00000027075.9 | ENST00000555542.1 |
exon_skip_107181 | 14 | 61788434:61789182:61857942:61858006:61909828:61909929 | 61857942:61858006 | ENSG00000027075.9 | ENST00000332981.5 |
exon_skip_107182 | 14 | 61857942:61858006:61909828:61909979:61912409:61912439 | 61909828:61909979 | ENSG00000027075.9 | ENST00000555906.1,ENST00000332981.5,ENST00000555082.1,ENST00000553830.1,ENST00000553831.1,ENST00000553265.1,ENST00000556164.1,ENST00000557585.1 |
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 PRKCH |
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 |
ENST00000332981 | 61857942 | 61858006 | Frame-shift |
ENST00000332981 | 61909828 | 61909979 | 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 |
ENST00000332981 | 61857942 | 61858006 | Frame-shift |
ENST00000332981 | 61909828 | 61909979 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PRKCH |
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 |
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 PRKCH |
- 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 |
UCEC | TCGA-D1-A17N-01 | exon_skip_107182 | 61909829 | 61909979 | 61909894 | 61909894 | Nonsense_Mutation | C | T | p.R165* |
- 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 |
NCIBL1395_MATCHED_NORMAL_TISSUE | 61857943 | 61858006 | 61857991 | 61857991 | Missense_Mutation | G | T | p.G138W |
NCIH1395_LUNG | 61857943 | 61858006 | 61857991 | 61857991 | Missense_Mutation | G | T | p.G138W |
NCIBL2087_MATCHED_NORMAL_TISSUE | 61909829 | 61909979 | 61909847 | 61909847 | Missense_Mutation | G | A | p.R149Q |
NCIH2087_LUNG | 61909829 | 61909979 | 61909847 | 61909847 | Missense_Mutation | G | A | p.R149Q |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61909829 | 61909979 | 61909920 | 61909920 | Missense_Mutation | G | T | p.K173N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKCH |
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 PRKCH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKCH |
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RelatedDrugs for PRKCH |
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 PRKCH |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PRKCH | C0028754 | Obesity | 1 | CTD_human |
PRKCH | C0236969 | Substance-Related Disorders | 1 | CTD_human |