|
||||||
|
 | |
| |
| |
| |
| 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 SGK1 |
 Gene summary |
| Gene information | Gene symbol | SGK1 | Gene ID | 6446 |
| Gene name | serum/glucocorticoid regulated kinase 1 | |
| Synonyms | SGK | |
| Cytomap | 6q23.2 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase Sgk1Sgk1 variant i3serine/threonine protein kinase SGK | |
| Modification date | 20180523 | |
| UniProtAcc | O00141 | |
| Context | PubMed: SGK1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for SGK1 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. |
 |
Top |
Gene isoform structures and expression levels for SGK1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SGK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462427 | 6 | 134491243:134491573:134491963:134492053:134492160:134492316 | 134491963:134492053 | ENSG00000118515.7 | ENST00000528577.1,ENST00000477460.2,ENST00000367858.5,ENST00000367857.5,ENST00000237305.7,ENST00000413996.3,ENST00000475719.2 |
| exon_skip_462428 | 6 | 134492242:134492316:134492774:134492870:134493330:134493435 | 134492774:134492870 | ENSG00000118515.7 | ENST00000528577.1,ENST00000477460.2,ENST00000367858.5,ENST00000367857.5,ENST00000367855.3,ENST00000237305.7,ENST00000413996.3,ENST00000475719.2,ENST00000531782.1 |
| exon_skip_462431 | 6 | 134492788:134492870:134493330:134493454:134493799:134493877 | 134493330:134493454 | ENSG00000118515.7 | ENST00000525877.1,ENST00000528577.1,ENST00000477460.2,ENST00000367858.5,ENST00000367857.5,ENST00000367855.3,ENST00000237305.7,ENST00000413996.3,ENST00000475719.2,ENST00000489458.2 |
| exon_skip_462432 | 6 | 134493330:134493454:134493799:134493912:134494160:134494292 | 134493799:134493912 | ENSG00000118515.7 | ENST00000528577.1,ENST00000367858.5,ENST00000367857.5,ENST00000367855.3,ENST00000237305.7,ENST00000413996.3,ENST00000489458.2 |
| exon_skip_462434 | 6 | 134493799:134493912:134494160:134494292:134494411:134494495 | 134494160:134494292 | ENSG00000118515.7 | ENST00000475882.2,ENST00000528577.1,ENST00000367858.5,ENST00000367857.5,ENST00000367855.3,ENST00000237305.7,ENST00000534658.1,ENST00000413996.3,ENST00000489458.2 |
| exon_skip_462436 | 6 | 134495648:134495724:134528493:134528569:134583070:134583155 | 134528493:134528569 | ENSG00000118515.7 | ENST00000461976.2,ENST00000367858.5 |
| exon_skip_462442 | 6 | 134583175:134583286:134638529:134638680:134638952:134639049 | 134638529:134638680 | ENSG00000118515.7 | ENST00000533224.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SGK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_462427 | 6 | 134491243:134491573:134491963:134492053:134492160:134492316 | 134491963:134492053 | ENSG00000118515.7 | ENST00000367858.5,ENST00000413996.3,ENST00000477460.2,ENST00000237305.7,ENST00000367857.5,ENST00000528577.1,ENST00000475719.2 |
| exon_skip_462428 | 6 | 134492242:134492316:134492774:134492870:134493330:134493435 | 134492774:134492870 | ENSG00000118515.7 | ENST00000367858.5,ENST00000413996.3,ENST00000477460.2,ENST00000237305.7,ENST00000367855.3,ENST00000367857.5,ENST00000528577.1,ENST00000475719.2,ENST00000531782.1 |
| exon_skip_462431 | 6 | 134492788:134492870:134493330:134493454:134493799:134493877 | 134493330:134493454 | ENSG00000118515.7 | ENST00000367858.5,ENST00000413996.3,ENST00000477460.2,ENST00000237305.7,ENST00000367855.3,ENST00000367857.5,ENST00000528577.1,ENST00000475719.2,ENST00000525877.1,ENST00000489458.2 |
| exon_skip_462432 | 6 | 134493330:134493454:134493799:134493912:134494160:134494292 | 134493799:134493912 | ENSG00000118515.7 | ENST00000367858.5,ENST00000413996.3,ENST00000237305.7,ENST00000367855.3,ENST00000367857.5,ENST00000528577.1,ENST00000489458.2 |
| exon_skip_462434 | 6 | 134493799:134493912:134494160:134494292:134494411:134494495 | 134494160:134494292 | ENSG00000118515.7 | ENST00000367858.5,ENST00000413996.3,ENST00000237305.7,ENST00000367855.3,ENST00000367857.5,ENST00000528577.1,ENST00000489458.2,ENST00000475882.2,ENST00000534658.1 |
| exon_skip_462436 | 6 | 134495648:134495724:134528493:134528569:134583070:134583155 | 134528493:134528569 | ENSG00000118515.7 | ENST00000367858.5,ENST00000461976.2 |
| exon_skip_462442 | 6 | 134583175:134583286:134638529:134638680:134638952:134639049 | 134638529:134638680 | ENSG00000118515.7 | ENST00000533224.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SGK1 |
| 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 |
| ENST00000237305 | 134493330 | 134493454 | Frame-shift |
| ENST00000237305 | 134493799 | 134493912 | Frame-shift |
| ENST00000237305 | 134491963 | 134492053 | In-frame |
| ENST00000237305 | 134492774 | 134492870 | In-frame |
| ENST00000237305 | 134494160 | 134494292 | 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 |
| ENST00000237305 | 134493330 | 134493454 | Frame-shift |
| ENST00000237305 | 134493799 | 134493912 | Frame-shift |
| ENST00000237305 | 134491963 | 134492053 | In-frame |
| ENST00000237305 | 134492774 | 134492870 | In-frame |
| ENST00000237305 | 134494160 | 134494292 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SGK1 |
| 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 |
| ENST00000237305 | 2418 | 431 | 134494160 | 134494292 | 507 | 638 | 139 | 183 |
| ENST00000237305 | 2418 | 431 | 134492774 | 134492870 | 876 | 971 | 262 | 294 |
| ENST00000237305 | 2418 | 431 | 134491963 | 134492053 | 1128 | 1217 | 346 | 376 |
| 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 |
| ENST00000237305 | 2418 | 431 | 134494160 | 134494292 | 507 | 638 | 139 | 183 |
| ENST00000237305 | 2418 | 431 | 134492774 | 134492870 | 876 | 971 | 262 | 294 |
| ENST00000237305 | 2418 | 431 | 134491963 | 134492053 | 1128 | 1217 | 346 | 376 |
| 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 |
Top |
SNVs in the skipped exons for SGK1 |
| - 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. |
SGK1_COAD_exon_skip_462427_psi_boxplot.png |
SGK1_STAD_exon_skip_462427_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-HU-A4GX-01 | exon_skip_462427 | 134491964 | 134492053 | 134491976 | 134491976 | Frame_Shift_Del | A | - | p.N373fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_462427 | 134491964 | 134492053 | 134491976 | 134491976 | Frame_Shift_Del | A | - | p.N468fs |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_462431 | 134493331 | 134493454 | 134493445 | 134493445 | Frame_Shift_Del | T | - | p.K319fs |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_462431 | 134493331 | 134493454 | 134493445 | 134493445 | Frame_Shift_Del | T | - | p.P320fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_462442 | 134638530 | 134638680 | 134638591 | 134638591 | Frame_Shift_Del | T | - | p.N3fs |
| BRCA | TCGA-BH-A1F0-01 | exon_skip_462431 | 134493331 | 134493454 | 134493422 | 134493422 | Nonsense_Mutation | G | T | p.S327* |
| COAD | TCGA-D5-6540-01 | exon_skip_462427 | 134491964 | 134492053 | 134492054 | 134492054 | Splice_Site | C | G | . |
| PAAD | TCGA-S4-A8RP-01 | exon_skip_462431 | 134493331 | 134493454 | 134493456 | 134493460 | Splice_Site | TGTAA | - | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D5-6540-01 |
| Cancer type: COAD | |
| ESID: exon_skip_462427 | |
| Skipped exon start: 134491964 | |
| Skipped exon end: 134492053 | |
| Mutation start: 134492054 | |
| Mutation end: 134492054 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_149086_COAD_TCGA-D5-6540-01.png | |
exon_skip_32368_COAD_TCGA-D5-6540-01.png | |
exon_skip_32369_COAD_TCGA-D5-6540-01.png | |
exon_skip_366741_COAD_TCGA-D5-6540-01.png | |
exon_skip_4028_COAD_TCGA-D5-6540-01.png | |
exon_skip_421552_COAD_TCGA-D5-6540-01.png | |
exon_skip_460550_COAD_TCGA-D5-6540-01.png | |
exon_skip_462427_COAD_TCGA-D5-6540-01.png | |
exon_skip_490897_COAD_TCGA-D5-6540-01.png | |
exon_skip_57346_COAD_TCGA-D5-6540-01.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 |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134492775 | 134492870 | 134492843 | 134492859 | Frame_Shift_Del | GCTTATGAAGCACCTCA | - | p.EVLHKQ267fs |
| EFO27_OVARY | 134638530 | 134638680 | 134638539 | 134638539 | Frame_Shift_Del | A | - | p.F20fs |
| C33A_CERVIX | 134491964 | 134492053 | 134491990 | 134491992 | In_Frame_Del | TCT | - | p.K367del |
| DU145_PROSTATE | 134491964 | 134492053 | 134492011 | 134492011 | Missense_Mutation | C | G | p.D361H |
| SNU175_LARGE_INTESTINE | 134491964 | 134492053 | 134492038 | 134492038 | Missense_Mutation | G | A | p.H352Y |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134493331 | 134493454 | 134493365 | 134493365 | Missense_Mutation | T | C | p.N251S |
| CW2_LARGE_INTESTINE | 134493331 | 134493454 | 134493390 | 134493390 | Missense_Mutation | G | A | p.L243F |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 134493331 | 134493454 | 134493407 | 134493407 | Missense_Mutation | A | G | p.V237A |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134494161 | 134494292 | 134494218 | 134494218 | Missense_Mutation | G | C | p.F164L |
| MDAMB361_BREAST | 134494161 | 134494292 | 134494274 | 134494274 | Missense_Mutation | C | G | p.E146Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134528494 | 134528569 | 134528510 | 134528510 | Nonsense_Mutation | C | T | p.W115* |
| SNU81_LARGE_INTESTINE | 134491964 | 134492053 | 134491965 | 134491965 | Splice_Site | A | C | p.V376G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 134493800 | 134493912 | 134493912 | 134493912 | Splice_Site | A | G | p.L184L |
| CCK81_LARGE_INTESTINE | 134494161 | 134494292 | 134494161 | 134494161 | Splice_Site | C | A | p.E183D |
| LB647SCLC_LUNG | 134494161 | 134494292 | 134494291 | 134494292 | Splice_Site | - | C | p.E140fs |
| PL4_PANCREAS | 134528494 | 134528569 | 134528495 | 134528495 | Splice_Site | T | C | p.P120P |
| LS180_LARGE_INTESTINE | 134638530 | 134638680 | 134638530 | 134638531 | Splice_Site | CC | TT | p.R23Q |
| LS180_LARGE_INTESTINE | 134638530 | 134638680 | 134638531 | 134638531 | Splice_Site | C | T | p.R23Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SGK1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SGK1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SGK1 |
Top |
RelatedDrugs for SGK1 |
| 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 |
Top |
RelatedDiseases for SGK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SGK1 | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| SGK1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| SGK1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| SGK1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| SGK1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| SGK1 | C0041948 | Uremia | 1 | CTD_human |
| SGK1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|