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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 TSKS |
Gene summary |
| Gene information | Gene symbol | TSKS | Gene ID | 60385 |
| Gene name | testis specific serine kinase substrate | |
| Synonyms | PPP1R161|STK22S1|TSKS1|TSSKS | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | testis-specific serine kinase substrateSTK22 substrate 1protein phosphatase 1, regulatory subunit 161testis specific serine/threonine kinase substratetestis-specific kinase substrate | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UJT2 | |
| Context | PubMed: TSKS [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 |
| TSKS | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Exon skipping events across known transcript of Ensembl for TSKS 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 TSKS |
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 TSKS |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320896 | 19 | 50243013:50243189:50243315:50243440:50245141:50245277 | 50243315:50243440 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
| exon_skip_320900 | 19 | 50243315:50243440:50245141:50245277:50247487:50247661 | 50245141:50245277 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
| exon_skip_320902 | 19 | 50247487:50247661:50248458:50248653:50249726:50250055 | 50248458:50248653 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TSKS |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320896 | 19 | 50243013:50243189:50243315:50243440:50245141:50245277 | 50243315:50243440 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
| exon_skip_320900 | 19 | 50243315:50243440:50245141:50245277:50247487:50247661 | 50245141:50245277 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
| exon_skip_320902 | 19 | 50247487:50247661:50248458:50248653:50249726:50250055 | 50248458:50248653 | ENSG00000126467.6 | ENST00000246801.3,ENST00000358830.3 |
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 TSKS |
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 |
| ENST00000246801 | 50243315 | 50243440 | Frame-shift |
| ENST00000246801 | 50245141 | 50245277 | Frame-shift |
| ENST00000246801 | 50248458 | 50248653 | 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 |
| ENST00000246801 | 50243315 | 50243440 | Frame-shift |
| ENST00000246801 | 50245141 | 50245277 | Frame-shift |
| ENST00000246801 | 50248458 | 50248653 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TSKS |
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 |
| ENST00000246801 | 1900 | 592 | 50248458 | 50248653 | 1076 | 1270 | 331 | 395 |
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 |
| ENST00000246801 | 1900 | 592 | 50248458 | 50248653 | 1076 | 1270 | 331 | 395 |
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 |
| Q9UJT2 | 331 | 395 | 1 | 592 | Chain | ID=PRO_0000065665;Note=Testis-specific serine kinase substrate |
| Q9UJT2 | 331 | 395 | 382 | 382 | Natural variant | ID=VAR_051460;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15044604;Dbxref=dbSNP:rs2304202,PMID:15044604 |
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 |
| Q9UJT2 | 331 | 395 | 1 | 592 | Chain | ID=PRO_0000065665;Note=Testis-specific serine kinase substrate |
| Q9UJT2 | 331 | 395 | 382 | 382 | Natural variant | ID=VAR_051460;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15044604;Dbxref=dbSNP:rs2304202,PMID:15044604 |
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SNVs in the skipped exons for TSKS |
- 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 |
| SARC | TCGA-DX-A7EN-01 | exon_skip_320896 | 50243316 | 50243440 | 50243381 | 50243381 | Frame_Shift_Del | A | - | p.L519fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_320902 | 50248459 | 50248653 | 50248607 | 50248607 | Frame_Shift_Del | C | - | p.A347fs |
| PRAD | TCGA-EJ-7784-01 | exon_skip_320900 | 50245142 | 50245277 | 50245231 | 50245231 | Nonsense_Mutation | G | A | p.R470* |
- 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 |
| LNCAPCLONEFGC_PROSTATE | 50243316 | 50243440 | 50243356 | 50243356 | Missense_Mutation | G | A | p.R528W |
| COLO824_BREAST | 50243316 | 50243440 | 50243379 | 50243379 | Missense_Mutation | C | G | p.R520P |
| DJM1_SKIN | 50243316 | 50243440 | 50243401 | 50243401 | Missense_Mutation | C | G | p.E513Q |
| OVMIU_OVARY | 50243316 | 50243440 | 50243410 | 50243410 | Missense_Mutation | C | T | p.V510I |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50243316 | 50243440 | 50243430 | 50243430 | Missense_Mutation | C | T | p.R503H |
| NCIH1105_LUNG | 50245142 | 50245277 | 50245212 | 50245212 | Missense_Mutation | A | T | p.V476E |
| COV318_OVARY | 50245142 | 50245277 | 50245230 | 50245230 | Missense_Mutation | C | T | p.R470Q |
| MM370_SKIN | 50248459 | 50248653 | 50248475 | 50248475 | Missense_Mutation | C | T | p.D391N |
| KE39_STOMACH | 50248459 | 50248653 | 50248475 | 50248475 | Missense_Mutation | C | T | p.D391N |
| SKPNDW_BONE | 50248459 | 50248653 | 50248502 | 50248502 | Missense_Mutation | C | G | p.D382H |
| HEC151_ENDOMETRIUM | 50248459 | 50248653 | 50248525 | 50248525 | Missense_Mutation | C | T | p.R374H |
| HCT116_LARGE_INTESTINE | 50248459 | 50248653 | 50248542 | 50248542 | Missense_Mutation | C | G | p.Q368H |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50248459 | 50248653 | 50248564 | 50248564 | Missense_Mutation | C | T | p.R361K |
| OVK18_OVARY | 50248459 | 50248653 | 50248568 | 50248568 | Missense_Mutation | C | T | p.G360S |
| NCIH2795_PLEURA | 50248459 | 50248653 | 50248570 | 50248570 | Missense_Mutation | C | T | p.G359D |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50248459 | 50248653 | 50248588 | 50248588 | Missense_Mutation | C | T | p.R353Q |
| HCT15_LARGE_INTESTINE | 50248459 | 50248653 | 50248606 | 50248606 | Missense_Mutation | G | A | p.A347V |
| SKN_ENDOMETRIUM | 50248459 | 50248653 | 50248606 | 50248606 | Missense_Mutation | G | A | p.A347V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSKS |
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 TSKS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSKS |
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RelatedDrugs for TSKS |
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 TSKS |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |