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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 STK17A |
Gene summary |
Gene information | Gene symbol | STK17A | Gene ID | 9263 |
Gene name | serine/threonine kinase 17a | |
Synonyms | DRAK1 | |
Cytomap | 7p13 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein kinase 17ADAP kinase-related apoptosis-inducing protein kinase 1death-associated protein kinase-related 1serine/threonine kinase 17a (apoptosis-inducing) | |
Modification date | 20180523 | |
UniProtAcc | Q9UEE5 | |
Context | PubMed: STK17A [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 |
STK17A | GO:0006468 | protein phosphorylation | 9786912 |
STK17A | GO:0035556 | intracellular signal transduction | 9786912 |
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Exon skipping events across known transcript of Ensembl for STK17A 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 STK17A |
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 STK17A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_465569 | 7 | 43622663:43623048:43635499:43635712:43647854:43647999 | 43635499:43635712 | ENSG00000164543.5 | ENST00000319357.5 |
exon_skip_465570 | 7 | 43635499:43635712:43647854:43647999:43659195:43659322 | 43647854:43647999 | ENSG00000164543.5 | ENST00000462448.1,ENST00000319357.5 |
exon_skip_465571 | 7 | 43647854:43647999:43659195:43659322:43663170:43663219 | 43659195:43659322 | ENSG00000164543.5 | ENST00000319357.5 |
exon_skip_465573 | 7 | 43659195:43659322:43663170:43663219:43663307:43663487 | 43663170:43663219 | ENSG00000164543.5 | ENST00000319357.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STK17A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_465570 | 7 | 43635499:43635712:43647854:43647999:43659195:43659322 | 43647854:43647999 | ENSG00000164543.5 | ENST00000462448.1,ENST00000319357.5 |
exon_skip_465571 | 7 | 43647854:43647999:43659195:43659322:43663170:43663219 | 43659195:43659322 | ENSG00000164543.5 | ENST00000319357.5 |
exon_skip_465573 | 7 | 43659195:43659322:43663170:43663219:43663307:43663487 | 43663170:43663219 | ENSG00000164543.5 | ENST00000319357.5 |
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 STK17A |
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 |
ENST00000319357 | 43647854 | 43647999 | Frame-shift |
ENST00000319357 | 43659195 | 43659322 | Frame-shift |
ENST00000319357 | 43663170 | 43663219 | Frame-shift |
ENST00000319357 | 43635499 | 43635712 | 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 |
ENST00000319357 | 43647854 | 43647999 | Frame-shift |
ENST00000319357 | 43659195 | 43659322 | Frame-shift |
ENST00000319357 | 43663170 | 43663219 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for STK17A |
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 |
ENST00000319357 | 3385 | 414 | 43635499 | 43635712 | 386 | 598 | 69 | 139 |
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 |
Q9UEE5 | 69 | 139 | 90 | 90 | Binding site | Note=ATP |
Q9UEE5 | 69 | 139 | 1 | 414 | Chain | ID=PRO_0000086704;Note=Serine/threonine-protein kinase 17A |
Q9UEE5 | 69 | 139 | 61 | 321 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q9UEE5 | 69 | 139 | 90 | 90 | Mutagenesis | Note=Loss of activity and of apoptotic function. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9786912;Dbxref=PMID:9786912 |
Q9UEE5 | 69 | 139 | 126 | 126 | Natural variant | ID=VAR_041145;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56286238,PMID:17344846 |
Q9UEE5 | 69 | 139 | 67 | 75 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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 STK17A |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_465570 | 43647855 | 43647999 | 43647961 | 43647961 | Frame_Shift_Del | T | - | p.F176fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_465571 | 43659196 | 43659322 | 43659252 | 43659252 | Frame_Shift_Del | T | - | p.D207fs |
LIHC | TCGA-BC-A112-01 | 43635500 | 43635712 | 43635571 | 43635572 | Frame_Shift_Ins | - | A | p.K93fs | |
READ | TCGA-F5-6814-01 | exon_skip_465570 | 43647855 | 43647999 | 43647901 | 43647901 | Nonsense_Mutation | G | T | p.E156X |
THYM | TCGA-YT-A95E-01 | exon_skip_465570 | 43647855 | 43647999 | 43647937 | 43647937 | Nonsense_Mutation | C | T | p.R168X |
PRAD | TCGA-CH-5762-01 | exon_skip_465571 | 43659196 | 43659322 | 43659292 | 43659292 | Nonsense_Mutation | C | T | p.R221* |
PRAD | TCGA-CH-5762-01 | exon_skip_465571 | 43659196 | 43659322 | 43659292 | 43659292 | Nonsense_Mutation | C | T | p.R221X |
THYM | TCGA-4V-A9QL-01 | exon_skip_465570 | 43647855 | 43647999 | 43648000 | 43648000 | Splice_Site | G | T | . |
- 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 |
EGI1_BILIARY_TRACT | 43647855 | 43647999 | 43647890 | 43647893 | Frame_Shift_Del | CAGA | - | p.AD152fs |
JHUEM7_ENDOMETRIUM | 43635500 | 43635712 | 43635553 | 43635553 | Missense_Mutation | T | G | p.F87C |
HCC2998_LARGE_INTESTINE | 43635500 | 43635712 | 43635593 | 43635593 | Missense_Mutation | T | G | p.D100E |
BHT101_THYROID | 43635500 | 43635712 | 43635609 | 43635609 | Missense_Mutation | A | G | p.I106V |
VMRCRCZ_KIDNEY | 43635500 | 43635712 | 43635669 | 43635669 | Missense_Mutation | G | A | p.E126K |
NCIH1563_LUNG | 43635500 | 43635712 | 43635690 | 43635690 | Missense_Mutation | G | C | p.E133Q |
HS737T_FIBROBLAST | 43647855 | 43647999 | 43647974 | 43647974 | Missense_Mutation | G | A | p.R180H |
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43647855 | 43647999 | 43647976 | 43647976 | Missense_Mutation | G | A | p.D181N |
HEC251_ENDOMETRIUM | 43647855 | 43647999 | 43647937 | 43647937 | Nonsense_Mutation | C | T | p.R168* |
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43647855 | 43647999 | 43647937 | 43647937 | Nonsense_Mutation | C | T | p.R168* |
ISTMES1_PLEURA | 43635500 | 43635712 | 43635500 | 43635500 | Splice_Site | G | A | p.R69R |
MZ7MEL_SKIN | 43635500 | 43635712 | 43635500 | 43635500 | Splice_Site | G | A | p.R69R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STK17A |
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 STK17A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STK17A |
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RelatedDrugs for STK17A |
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 |
Q9UEE5 | DB12010 | Fostamatinib | Serine/threonine-protein kinase 17A | small molecule | approved|investigational |
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RelatedDiseases for STK17A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |