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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 PRKAA1 |
 Gene summary |
| Gene information | Gene symbol | PRKAA1 | Gene ID | 5562 |
| Gene name | protein kinase AMP-activated catalytic subunit alpha 1 | |
| Synonyms | AMPK|AMPKa1 | |
| Cytomap | 5p13.1 | |
| Type of gene | protein-coding | |
| Description | 5'-AMP-activated protein kinase catalytic subunit alpha-15'-AMP-activated protein kinase, catalytic alpha-1 chainACACA kinaseAMP -activate kinase alpha 1 subunitAMP-activated protein kinase, catalytic, alpha-1AMPK alpha 1AMPK subunit alpha-1HMGCR k | |
| Modification date | 20180527 | |
| UniProtAcc | Q13131 | |
| Context | PubMed: PRKAA1 [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 |
| PRKAA1 | GO:0006468 | protein phosphorylation | 17028174 |
| PRKAA1 | GO:0010508 | positive regulation of autophagy | 22012985 |
| PRKAA1 | GO:0010628 | positive regulation of gene expression | 17028174 |
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Exon skipping events across known transcript of Ensembl for PRKAA1 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 PRKAA1 |
| 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 PRKAA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441718 | 5 | 40767773:40767792:40769517:40769605:40771820:40771965 | 40769517:40769605 | ENSG00000132356.7 | ENST00000354209.3,ENST00000397128.2,ENST00000505783.1,ENST00000506652.1 |
| exon_skip_441722 | 5 | 40767608:40767792:40771820:40771965:40775511:40775605 | 40771820:40771965 | ENSG00000132356.7 | ENST00000509874.1 |
| exon_skip_441726 | 5 | 40771820:40771965:40775029:40775074:40775511:40775605 | 40775029:40775074 | ENSG00000132356.7 | ENST00000354209.3 |
| exon_skip_441729 | 5 | 40771820:40771965:40775511:40775605:40777546:40777688 | 40775511:40775605 | ENSG00000132356.7 | ENST00000296800.4,ENST00000397128.2,ENST00000506652.1,ENST00000509874.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PRKAA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441718 | 5 | 40767773:40767792:40769517:40769605:40771820:40771965 | 40769517:40769605 | ENSG00000132356.7 | ENST00000397128.2,ENST00000354209.3,ENST00000505783.1,ENST00000506652.1 |
| exon_skip_441722 | 5 | 40767608:40767792:40771820:40771965:40775511:40775605 | 40771820:40771965 | ENSG00000132356.7 | ENST00000509874.1 |
| exon_skip_441726 | 5 | 40771820:40771965:40775029:40775074:40775511:40775605 | 40775029:40775074 | ENSG00000132356.7 | ENST00000354209.3 |
| exon_skip_441729 | 5 | 40771820:40771965:40775511:40775605:40777546:40777688 | 40775511:40775605 | ENSG00000132356.7 | ENST00000397128.2,ENST00000506652.1,ENST00000509874.1,ENST00000296800.4 |
| 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 PRKAA1 |
| 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 |
| ENST00000397128 | 40769517 | 40769605 | Frame-shift |
| ENST00000397128 | 40775511 | 40775605 | 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 |
| ENST00000397128 | 40769517 | 40769605 | Frame-shift |
| ENST00000397128 | 40775511 | 40775605 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PRKAA1 |
| 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 PRKAA1 |
| - 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. |
PRKAA1_KICH_exon_skip_441729_psi_boxplot.png |
PRKAA1_LIHC_exon_skip_441729_psi_boxplot.png |
| - 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 |
| STAD | TCGA-BR-6452-01 | exon_skip_441718 | 40769518 | 40769605 | 40769572 | 40769572 | Frame_Shift_Del | A | - | p.L196fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441722 | 40771821 | 40771965 | 40771835 | 40771835 | Frame_Shift_Del | T | - | p.K165fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441729 | 40775512 | 40775605 | 40775573 | 40775573 | Frame_Shift_Del | A | - | p.F101fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441729 | 40775512 | 40775605 | 40775573 | 40775573 | Frame_Shift_Del | A | - | p.F101fs |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_441718 | 40769518 | 40769605 | 40769524 | 40769524 | Nonsense_Mutation | G | T | p.S197* |
| KICH | TCGA-KN-8418-01 | exon_skip_441729 | 40775512 | 40775605 | 40775606 | 40775606 | Splice_Site | C | T | p.L90_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-KN-8418-01 |
| Cancer type: KICH | |
| ESID: exon_skip_441729 | |
| Skipped exon start: 40775512 | |
| Skipped exon end: 40775605 | |
| Mutation start: 40775606 | |
| Mutation end: 40775606 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.L90_splice | |
exon_skip_129022_KICH_TCGA-KN-8418-01.png | |
exon_skip_441729_KICH_TCGA-KN-8418-01.png | |
| - 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 |
| SNUC5_LARGE_INTESTINE | 40769518 | 40769605 | 40769548 | 40769548 | Missense_Mutation | T | C | p.N189S |
| LS411N_LARGE_INTESTINE | 40769518 | 40769605 | 40769592 | 40769592 | Missense_Mutation | C | T | p.M174I |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40771821 | 40771965 | 40771904 | 40771904 | Missense_Mutation | T | C | p.H142R |
| SNU81_LARGE_INTESTINE | 40775512 | 40775605 | 40775575 | 40775575 | Missense_Mutation | A | C | p.I100M |
| 639V_URINARY_TRACT | 40769518 | 40769605 | 40769605 | 40769605 | Splice_Site | C | T | p.G170D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRKAA1 |
| 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 PRKAA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRKAA1 |
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RelatedDrugs for PRKAA1 |
| 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 |
| Q13131 | DB12010 | Fostamatinib | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|investigational | |
| Q13131 | DB12010 | Fostamatinib | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|investigational | |
| Q13131 | DB00914 | Phenformin | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|investigational|withdrawn | |
| Q13131 | DB00945 | Acetylsalicylic acid | 5'-AMP-activated protein kinase catalytic subunit alpha-1 | small molecule | approved|vet_approved |
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RelatedDiseases for PRKAA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PRKAA1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| PRKAA1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| PRKAA1 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
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