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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 AKT3 |
 Gene summary |
| Gene information | Gene symbol | AKT3 | Gene ID | 10000 |
| Gene name | AKT serine/threonine kinase 3 | |
| Synonyms | MPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 | |
| Cytomap | 1q43-q44 | |
| Type of gene | protein-coding | |
| Description | RAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y243 | |
| Context | PubMed: AKT3 [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 |
| AKT3 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 28254819 |
| AKT3 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 28254819 |
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Exon skipping events across known transcript of Ensembl for AKT3 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 AKT3 |
| 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 AKT3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38484 | 1 | 243708811:243708899:243716030:243716245:243727021:243727150 | 243716030:243716245 | ENSG00000117020.12 | ENST00000336199.5,ENST00000263826.5,ENST00000366539.1,ENST00000366540.1 |
| exon_skip_38486 | 1 | 243727021:243727150:243736227:243736350:243776972:243777041 | 243736227:243736350 | ENSG00000117020.12 | ENST00000336199.5,ENST00000263826.5,ENST00000366539.1,ENST00000366540.1 |
| exon_skip_38487 | 1 | 243736227:243736350:243776972:243777041:243778397:243778448 | 243776972:243777041 | ENSG00000117020.12 | ENST00000336199.5,ENST00000263826.5,ENST00000366539.1,ENST00000366540.1 |
| exon_skip_38489 | 1 | 243809206:243809339:243828073:243828185:243858892:243859018 | 243828073:243828185 | ENSG00000117020.12 | ENST00000336199.5,ENST00000263826.5,ENST00000552631.1,ENST00000366539.1,ENST00000366540.1 |
| exon_skip_38491 | 1 | 243828073:243828185:243858892:243859018:244006426:244006538 | 243858892:243859018 | ENSG00000117020.12 | ENST00000263826.5,ENST00000552631.1,ENST00000366539.1,ENST00000366540.1 |
| exon_skip_38494 | 1 | 243858892:243859018:244006426:244006584:244013341:244013430 | 244006426:244006584 | ENSG00000117020.12 | ENST00000366539.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AKT3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38484 | 1 | 243708811:243708899:243716030:243716245:243727021:243727150 | 243716030:243716245 | ENSG00000117020.12 | ENST00000336199.5,ENST00000366540.1,ENST00000366539.1,ENST00000263826.5 |
| exon_skip_38486 | 1 | 243727021:243727150:243736227:243736350:243776972:243777041 | 243736227:243736350 | ENSG00000117020.12 | ENST00000336199.5,ENST00000366540.1,ENST00000366539.1,ENST00000263826.5 |
| exon_skip_38487 | 1 | 243736227:243736350:243776972:243777041:243778397:243778448 | 243776972:243777041 | ENSG00000117020.12 | ENST00000336199.5,ENST00000366540.1,ENST00000366539.1,ENST00000263826.5 |
| exon_skip_38489 | 1 | 243809206:243809339:243828073:243828185:243858892:243859018 | 243828073:243828185 | ENSG00000117020.12 | ENST00000336199.5,ENST00000366540.1,ENST00000366539.1,ENST00000263826.5,ENST00000552631.1 |
| exon_skip_38491 | 1 | 243828073:243828185:243858892:243859018:244006426:244006538 | 243858892:243859018 | ENSG00000117020.12 | ENST00000366540.1,ENST00000366539.1,ENST00000263826.5,ENST00000552631.1 |
| exon_skip_38494 | 1 | 243858892:243859018:244006426:244006584:244013341:244013430 | 244006426:244006584 | ENSG00000117020.12 | ENST00000366539.1 |
| 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 AKT3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for AKT3 |
| 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 AKT3 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_38484 | 243716031 | 243716245 | 243716129 | 243716129 | Frame_Shift_Del | A | - | p.F355fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38489 | 243828074 | 243828185 | 243828142 | 243828142 | Frame_Shift_Del | A | - | p.F72fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38489 | 243828074 | 243828185 | 243828168 | 243828168 | Frame_Shift_Del | T | - | p.T64fs |
| BRCA | TCGA-B6-A0RL-01 | exon_skip_38484 | 243716031 | 243716245 | 243716070 | 243716070 | Nonsense_Mutation | G | T | p.S375* |
| BRCA | TCGA-BH-A1EO-01 | exon_skip_38489 | 243828074 | 243828185 | 243828162 | 243828162 | Nonsense_Mutation | G | A | p.R66* |
| SKCM | TCGA-ER-A19D-06 | exon_skip_38484 | 243716031 | 243716245 | 243716030 | 243716030 | Splice_Site | C | T | . |
| LIHC | TCGA-ZP-A9CV-01 | exon_skip_38494 | 244006427 | 244006584 | 244006586 | 244006586 | Splice_Site | T | A | . |
| - 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 |
| JHUEM7_ENDOMETRIUM | 243716031 | 243716245 | 243716138 | 243716138 | Missense_Mutation | C | A | p.E352D |
| SNU81_LARGE_INTESTINE | 243716031 | 243716245 | 243716138 | 243716138 | Missense_Mutation | C | A | p.E352D |
| SNU1040_LARGE_INTESTINE | 243716031 | 243716245 | 243716154 | 243716154 | Missense_Mutation | T | C | p.Y347C |
| HEC108_ENDOMETRIUM | 243716031 | 243716245 | 243716167 | 243716167 | Missense_Mutation | T | C | p.R343G |
| SNU1033_LARGE_INTESTINE | 243716031 | 243716245 | 243716175 | 243716175 | Missense_Mutation | A | T | p.M340K |
| 2313287_STOMACH | 243736228 | 243736350 | 243736254 | 243736254 | Missense_Mutation | C | T | p.G265R |
| HEC251_ENDOMETRIUM | 243736228 | 243736350 | 243736263 | 243736263 | Missense_Mutation | G | T | p.L262I |
| HPAC_PANCREAS | 243736228 | 243736350 | 243736325 | 243736325 | Missense_Mutation | C | T | p.R241Q |
| HEC108_ENDOMETRIUM | 243776973 | 243777041 | 243777014 | 243777014 | Missense_Mutation | C | T | p.D219N |
| RKO_LARGE_INTESTINE | 243828074 | 243828185 | 243828126 | 243828126 | Missense_Mutation | G | T | p.Q78K |
| RKO_LARGE_INTESTINE | 243828074 | 243828185 | 243828180 | 243828180 | Missense_Mutation | G | C | p.Q60E |
| COLO320_LARGE_INTESTINE | 243858893 | 243859018 | 243858971 | 243858971 | Missense_Mutation | C | T | p.D32N |
| JHUEM7_ENDOMETRIUM | 243776973 | 243777041 | 243776993 | 243776993 | Nonsense_Mutation | C | A | p.E226* |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 243858893 | 243859018 | 243858956 | 243858956 | Nonsense_Mutation | C | A | p.G37* |
| EVSAT_BREAST | 243858893 | 243859018 | 243859018 | 243859018 | Splice_Site | C | G | p.G16A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKT3 |
| 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 AKT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKT3 |
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RelatedDrugs for AKT3 |
| 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 AKT3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AKT3 | C4014738 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | 3 | UNIPROT |
| AKT3 | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
| AKT3 | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
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