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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 PHKG1 |
Gene summary |
Gene information | Gene symbol | PHKG1 | Gene ID | 5260 |
Gene name | phosphorylase kinase catalytic subunit gamma 1 | |
Synonyms | PHKG | |
Cytomap | 7p11.2 | |
Type of gene | protein-coding | |
Description | phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoformPHK-gamma-Mphosphorylase b kinase gamma catalytic chain, skeletal muscle isoformphosphorylase kinase gamma subunit 1phosphorylase kinase subunit gamma-1phosphorylase kinase, g | |
Modification date | 20180523 | |
UniProtAcc | Q16816 | |
Context | PubMed: PHKG1 [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 PHKG1 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 PHKG1 |
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 PHKG1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_475939 | 7 | 56151342:56151408:56151841:56151937:56154662:56154717 | 56151841:56151937 | ENSG00000164776.5 | ENST00000452681.2 |
exon_skip_475940 | 7 | 56151342:56151408:56154662:56154717:56155290:56155386 | 56154662:56154717 | ENSG00000164776.5 | ENST00000297373.2 |
exon_skip_475943 | 7 | 56151342:56151408:56155290:56155469:56156551:56156668 | 56155290:56155469 | ENSG00000164776.5 | ENST00000537360.1,ENST00000395428.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PHKG1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_475939 | 7 | 56151342:56151408:56151841:56151937:56154662:56154717 | 56151841:56151937 | ENSG00000164776.5 | ENST00000452681.2 |
exon_skip_475940 | 7 | 56151342:56151408:56154662:56154717:56155290:56155386 | 56154662:56154717 | ENSG00000164776.5 | ENST00000297373.2 |
exon_skip_475943 | 7 | 56151342:56151408:56155290:56155469:56156551:56156668 | 56155290:56155469 | ENSG00000164776.5 | ENST00000537360.1,ENST00000395428.2 |
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 PHKG1 |
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 |
ENST00000297373 | 56154662 | 56154717 | 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 |
ENST00000297373 | 56154662 | 56154717 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PHKG1 |
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 PHKG1 |
- 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-DD-A1EG-01 | exon_skip_475940 | 56154663 | 56154717 | 56154684 | 56154684 | Frame_Shift_Del | A | - | p.F101fs |
SKCM | TCGA-D3-A8GM-06 | exon_skip_475943 | 56155291 | 56155469 | 56155386 | 56155386 | Nonsense_Mutation | C | T | p.W20* |
PAAD | TCGA-IB-7651-01 | exon_skip_475943 | 56155291 | 56155469 | 56155447 | 56155447 | Nonsense_Mutation | G | A | p.R36* |
PAAD | TCGA-IB-7651-01 | exon_skip_475943 | 56155291 | 56155469 | 56155447 | 56155447 | Nonsense_Mutation | G | A | p.R36X |
- 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 |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56155291 | 56155469 | 56155317 | 56155317 | Missense_Mutation | C | T | p.R79H |
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56155291 | 56155469 | 56155360 | 56155360 | Missense_Mutation | G | A | p.R65W |
SNUC5_LARGE_INTESTINE | 56155291 | 56155469 | 56155399 | 56155399 | Missense_Mutation | C | T | p.D52N |
22RV1_PROSTATE | 56155291 | 56155469 | 56155447 | 56155447 | Nonsense_Mutation | G | A | p.R36* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHKG1 |
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 PHKG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHKG1 |
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RelatedDrugs for PHKG1 |
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 |
Q16816 | DB12010 | Fostamatinib | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | small molecule | approved|investigational |
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RelatedDiseases for PHKG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |