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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 PRKCG |
Gene summary |
Gene information | Gene symbol | PRKCG | Gene ID | 5582 |
Gene name | protein kinase C gamma | |
Synonyms | PKC-gamma|PKCC|PKCG|SCA14 | |
Cytomap | 19q13.42 | |
Type of gene | protein-coding | |
Description | protein kinase C gamma type | |
Modification date | 20180523 | |
UniProtAcc | P05129 | |
Context | PubMed: PRKCG [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 |
PRKCG | GO:0016310 | phosphorylation | 15808853 |
PRKCG | GO:0031397 | negative regulation of protein ubiquitination | 15808853 |
PRKCG | GO:0032425 | positive regulation of mismatch repair | 15808853 |
PRKCG | GO:0042177 | negative regulation of protein catabolic process | 15808853 |
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Exon skipping events across known transcript of Ensembl for PRKCG 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 PRKCG |
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 PRKCG |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311155 | 19 | 54387414:54387497:54392891:54393003:54393139:54393184 | 54392891:54393003 | ENSG00000126583.6 | ENST00000419486.1,ENST00000474397.1,ENST00000540413.1,ENST00000536044.1,ENST00000479081.1,ENST00000263431.3 |
exon_skip_311156 | 19 | 54395762:54395897:54396241:54396329:54396615:54396645 | 54396241:54396329 | ENSG00000126583.6 | ENST00000542049.1,ENST00000540413.1,ENST00000263431.3 |
exon_skip_311158 | 19 | 54406326:54406407:54407888:54407996:54409570:54409711 | 54407888:54407996 | ENSG00000126583.6 | ENST00000540413.1,ENST00000263431.3 |
exon_skip_311159 | 19 | 54407888:54407996:54409570:54409711:54409960:54410145 | 54409570:54409711 | ENSG00000126583.6 | ENST00000540413.1,ENST00000263431.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKCG |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311155 | 19 | 54387414:54387497:54392891:54393003:54393139:54393184 | 54392891:54393003 | ENSG00000126583.6 | ENST00000479081.1,ENST00000474397.1,ENST00000536044.1,ENST00000540413.1,ENST00000263431.3,ENST00000419486.1 |
exon_skip_311156 | 19 | 54395762:54395897:54396241:54396329:54396615:54396645 | 54396241:54396329 | ENSG00000126583.6 | ENST00000540413.1,ENST00000263431.3,ENST00000542049.1 |
exon_skip_311158 | 19 | 54406326:54406407:54407888:54407996:54409570:54409711 | 54407888:54407996 | ENSG00000126583.6 | ENST00000540413.1,ENST00000263431.3 |
exon_skip_311159 | 19 | 54407888:54407996:54409570:54409711:54409960:54410145 | 54409570:54409711 | ENSG00000126583.6 | ENST00000540413.1,ENST00000263431.3 |
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 PRKCG |
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 |
ENST00000263431 | 54392891 | 54393003 | Frame-shift |
ENST00000263431 | 54396241 | 54396329 | Frame-shift |
ENST00000263431 | 54407888 | 54407996 | In-frame |
ENST00000263431 | 54409570 | 54409711 | 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 |
ENST00000263431 | 54392891 | 54393003 | Frame-shift |
ENST00000263431 | 54396241 | 54396329 | Frame-shift |
ENST00000263431 | 54407888 | 54407996 | In-frame |
ENST00000263431 | 54409570 | 54409711 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PRKCG |
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 |
ENST00000263431 | 3150 | 697 | 54407888 | 54407996 | 1939 | 2046 | 552 | 588 |
ENST00000263431 | 3150 | 697 | 54409570 | 54409711 | 2047 | 2187 | 588 | 635 |
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 |
ENST00000263431 | 3150 | 697 | 54407888 | 54407996 | 1939 | 2046 | 552 | 588 |
ENST00000263431 | 3150 | 697 | 54409570 | 54409711 | 2047 | 2187 | 588 | 635 |
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 |
P05129 | 552 | 588 | 553 | 588 | Alternative sequence | ID=VSP_056469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P05129 | 552 | 588 | 1 | 697 | Chain | ID=PRO_0000055689;Note=Protein kinase C gamma type |
P05129 | 552 | 588 | 351 | 614 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P05129 | 588 | 635 | 553 | 588 | Alternative sequence | ID=VSP_056469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P05129 | 588 | 635 | 1 | 697 | Chain | ID=PRO_0000055689;Note=Protein kinase C gamma type |
P05129 | 588 | 635 | 351 | 614 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P05129 | 588 | 635 | 615 | 685 | Domain | Note=AGC-kinase C-terminal |
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 |
P05129 | 552 | 588 | 553 | 588 | Alternative sequence | ID=VSP_056469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P05129 | 552 | 588 | 1 | 697 | Chain | ID=PRO_0000055689;Note=Protein kinase C gamma type |
P05129 | 552 | 588 | 351 | 614 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P05129 | 588 | 635 | 553 | 588 | Alternative sequence | ID=VSP_056469;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P05129 | 588 | 635 | 1 | 697 | Chain | ID=PRO_0000055689;Note=Protein kinase C gamma type |
P05129 | 588 | 635 | 351 | 614 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
P05129 | 588 | 635 | 615 | 685 | Domain | Note=AGC-kinase C-terminal |
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SNVs in the skipped exons for PRKCG |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_311159 | 54409571 | 54409711 | 54409616 | 54409616 | Frame_Shift_Del | G | - | p.G604fs |
SARC | TCGA-3B-A9HI-01 | exon_skip_311159 | 54409571 | 54409711 | 54409605 | 54409605 | Nonsense_Mutation | C | A | p.S600* |
STAD | TCGA-D7-A4YT-01 | exon_skip_311159 | 54409571 | 54409711 | 54409676 | 54409676 | Nonsense_Mutation | C | T | p.R624* |
LUAD | TCGA-78-7159-01 | exon_skip_311158 | 54407889 | 54407996 | 54407997 | 54407997 | Splice_Site | G | T | p.G588_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 |
NCIH2110_LUNG | 54392892 | 54393003 | 54392952 | 54392953 | Frame_Shift_Ins | - | A | p.H116fs |
MFE319_ENDOMETRIUM | 54392892 | 54393003 | 54392917 | 54392917 | Missense_Mutation | G | A | p.R104H |
HPAC_PANCREAS | 54396242 | 54396329 | 54396267 | 54396267 | Missense_Mutation | G | A | p.G283S |
NCIH1755_LUNG | 54407889 | 54407996 | 54407898 | 54407898 | Missense_Mutation | G | T | p.D556Y |
NCIH2342_LUNG | 54407889 | 54407996 | 54407913 | 54407913 | Missense_Mutation | G | C | p.E561Q |
NCIH1694_LUNG | 54409571 | 54409711 | 54409583 | 54409583 | Missense_Mutation | C | A | p.H593N |
HEC6_ENDOMETRIUM | 54409571 | 54409711 | 54409650 | 54409650 | Missense_Mutation | G | A | p.R615H |
647V_URINARY_TRACT | 54409571 | 54409711 | 54409699 | 54409699 | Missense_Mutation | C | G | p.F631L |
NCIH460_LUNG | 54407889 | 54407996 | 54407913 | 54407913 | Nonsense_Mutation | G | T | p.E561* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKCG |
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 PRKCG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKCG |
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RelatedDrugs for PRKCG |
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 |
P05129 | DB12010 | Fostamatinib | Protein kinase C gamma type | small molecule | approved|investigational |
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RelatedDiseases for PRKCG |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PRKCG | C0020429 | Hyperalgesia | 2 | CTD_human |
PRKCG | C0040997 | Trigeminal Neuralgia | 1 | CTD_human |
PRKCG | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
PRKCG | C1854369 | Spinocerebellar ataxia 14 | 1 | CTD_human;ORPHANET;UNIPROT |
PRKCG | C3714756 | Intellectual Disability | 1 | CTD_human |