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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 STK39 |
 Gene summary |
| Gene information | Gene symbol | STK39 | Gene ID | 27347 |
| Gene name | serine/threonine kinase 39 | |
| Synonyms | DCHT|PASK|SPAK | |
| Cytomap | 2q24.3 | |
| Type of gene | protein-coding | |
| Description | STE20/SPS1-related proline-alanine-rich protein kinaseSTE20/SPS1 homologSte20-like protein kinaseproline-alanine-rich STE20-related kinaseserine threonine kinase 39 (STE20/SPS1 homolog, yeast)serine/threonine-protein kinase 39small intestine SPAK-li | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UEW8 | |
| Context | PubMed: STK39 [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 |
| STK39 | GO:0018105 | peptidyl-serine phosphorylation | 24393035 |
| STK39 | GO:0018107 | peptidyl-threonine phosphorylation | 24393035 |
| STK39 | GO:0023014 | signal transduction by protein phosphorylation | 24393035 |
| STK39 | GO:0035556 | intracellular signal transduction | 24393035 |
| STK39 | GO:1901017 | negative regulation of potassium ion transmembrane transporter activity | 24393035 |
| STK39 | GO:1901380 | negative regulation of potassium ion transmembrane transport | 24393035 |
| STK39 | GO:1905408 | negative regulation of creatine transmembrane transporter activity | 25531585 |
| STK39 | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 25531585 |
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Exon skipping events across known transcript of Ensembl for STK39 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 STK39 |
| 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 STK39 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344659 | 2 | 168810529:168812080:168821171:168821236:168869143:168869171 | 168821171:168821236 | ENSG00000198648.6 | ENST00000487143.1,ENST00000355999.4 |
| exon_skip_344665 | 2 | 168920009:168920080:168921828:168921891:168931491:168931521 | 168921828:168921891 | ENSG00000198648.6 | ENST00000487143.1,ENST00000355999.4 |
| exon_skip_344672 | 2 | 168986050:168986116:168986219:168986268:168994597:168994731 | 168986219:168986268 | ENSG00000198648.6 | ENST00000355999.4 |
| exon_skip_344673 | 2 | 168994597:168994731:168996798:168996900:168997158:168997268 | 168996798:168996900 | ENSG00000198648.6 | ENST00000355999.4 |
| exon_skip_344675 | 2 | 169020248:169020390:169023808:169023917:169038487:169038600 | 169023808:169023917 | ENSG00000198648.6 | ENST00000355999.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STK39 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344659 | 2 | 168810529:168812080:168821171:168821236:168869143:168869171 | 168821171:168821236 | ENSG00000198648.6 | ENST00000487143.1,ENST00000355999.4 |
| exon_skip_344665 | 2 | 168920009:168920080:168921828:168921891:168931491:168931521 | 168921828:168921891 | ENSG00000198648.6 | ENST00000487143.1,ENST00000355999.4 |
| exon_skip_344672 | 2 | 168986050:168986116:168986219:168986268:168994597:168994731 | 168986219:168986268 | ENSG00000198648.6 | ENST00000355999.4 |
| exon_skip_344673 | 2 | 168994597:168994731:168996798:168996900:168997158:168997268 | 168996798:168996900 | ENSG00000198648.6 | ENST00000355999.4 |
| exon_skip_344675 | 2 | 169020248:169020390:169023808:169023917:169038487:169038600 | 169023808:169023917 | ENSG00000198648.6 | ENST00000355999.4 |
| 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 STK39 |
| 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 |
| ENST00000355999 | 168821171 | 168821236 | Frame-shift |
| ENST00000355999 | 168986219 | 168986268 | Frame-shift |
| ENST00000355999 | 169023808 | 169023917 | Frame-shift |
| ENST00000355999 | 168921828 | 168921891 | In-frame |
| ENST00000355999 | 168996798 | 168996900 | 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 |
| ENST00000355999 | 168821171 | 168821236 | Frame-shift |
| ENST00000355999 | 168986219 | 168986268 | Frame-shift |
| ENST00000355999 | 169023808 | 169023917 | Frame-shift |
| ENST00000355999 | 168921828 | 168921891 | In-frame |
| ENST00000355999 | 168996798 | 168996900 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STK39 |
| 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 |
| ENST00000355999 | 3837 | 545 | 168996798 | 168996900 | 1445 | 1546 | 246 | 280 |
| ENST00000355999 | 3837 | 545 | 168921828 | 168921891 | 1949 | 2011 | 414 | 435 |
| 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 |
| ENST00000355999 | 3837 | 545 | 168996798 | 168996900 | 1445 | 1546 | 246 | 280 |
| ENST00000355999 | 3837 | 545 | 168921828 | 168921891 | 1949 | 2011 | 414 | 435 |
| 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 |
| Q9UEW8 | 246 | 280 | 1 | 545 | Chain | ID=PRO_0000086722;Note=STE20/SPS1-related proline-alanine-rich protein kinase |
| Q9UEW8 | 246 | 280 | 63 | 337 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UEW8 | 414 | 435 | 1 | 545 | Chain | ID=PRO_0000086722;Note=STE20/SPS1-related proline-alanine-rich protein kinase |
| Q9UEW8 | 414 | 435 | 310 | 536 | Region | Note=Interaction with RELT;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1W9 |
| Q9UEW8 | 414 | 435 | 416 | 416 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UEW8 | 246 | 280 | 1 | 545 | Chain | ID=PRO_0000086722;Note=STE20/SPS1-related proline-alanine-rich protein kinase |
| Q9UEW8 | 246 | 280 | 63 | 337 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UEW8 | 414 | 435 | 1 | 545 | Chain | ID=PRO_0000086722;Note=STE20/SPS1-related proline-alanine-rich protein kinase |
| Q9UEW8 | 414 | 435 | 310 | 536 | Region | Note=Interaction with RELT;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Z1W9 |
| Q9UEW8 | 414 | 435 | 416 | 416 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for STK39 |
| - 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-A1EG-01 | exon_skip_344672 | 168986220 | 168986268 | 168986244 | 168986244 | Frame_Shift_Del | T | - | p.K333fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344673 | 168996799 | 168996900 | 168996805 | 168996805 | Frame_Shift_Del | G | - | p.P278fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_344673 | 168996799 | 168996900 | 168996837 | 168996837 | Frame_Shift_Del | T | - | p.T268fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_344675 | 169023809 | 169023917 | 169023915 | 169023915 | Frame_Shift_Del | T | - | p.K108fs |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_344672 | 168986220 | 168986268 | 168986231 | 168986231 | Nonsense_Mutation | G | A | p.Q338* |
| UCEC | TCGA-AP-A056-01 | exon_skip_344672 | 168986220 | 168986268 | 168986255 | 168986255 | Nonsense_Mutation | C | A | p.E330* |
| - 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 |
| HT55_LARGE_INTESTINE | 168986220 | 168986268 | 168986230 | 168986230 | Missense_Mutation | T | A | p.Q338L |
| CP66MEL_SKIN | 168986220 | 168986268 | 168986252 | 168986252 | Missense_Mutation | G | A | p.L331F |
| CCLFPEDS0008T_SOFT_TISSUE | 168996799 | 168996900 | 168996802 | 168996802 | Missense_Mutation | C | T | p.M279I |
| A431_SKIN | 169023809 | 169023917 | 169023896 | 169023896 | Nonsense_Mutation | G | A | p.Q115* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STK39 |
| 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 STK39 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STK39 |
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RelatedDrugs for STK39 |
| 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 |
| Q9UEW8 | DB12010 | Fostamatinib | STE20/SPS1-related proline-alanine-rich protein kinase | small molecule | approved|investigational |
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RelatedDiseases for STK39 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STK39 | C0004352 | Autistic Disorder | 1 | CTD_human |
| STK39 | C0020538 | Hypertensive disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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