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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 SIK2 |
Gene summary |
Gene information | Gene symbol | SIK2 | Gene ID | 23235 |
Gene name | salt inducible kinase 2 | |
Synonyms | LOH11CR1I|QIK|SIK-2|SNF1LK2 | |
Cytomap | 11q23.1 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein kinase SIK2SNF1-like kinase 2qin-induced kinasesalt-inducible protein kinase 2salt-inducible serine/threonine kinase 2serine/threonine-protein kinase SNF1-like kinase 2 | |
Modification date | 20180523 | |
UniProtAcc | Q9H0K1 | |
Context | PubMed: SIK2 [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 |
SIK2 | GO:0006468 | protein phosphorylation | 14976552 |
SIK2 | GO:0035556 | intracellular signal transduction | 14976552 |
SIK2 | GO:0046777 | protein autophosphorylation | 18348280 |
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Exon skipping events across known transcript of Ensembl for SIK2 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 SIK2 |
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 SIK2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_64870 | 11 | 111486966:111487083:111491062:111491126:111558724:111558886 | 111491062:111491126 | ENSG00000170145.4 | ENST00000304987.3 |
exon_skip_64872 | 11 | 111491062:111491126:111558724:111558886:111571609:111571734 | 111558724:111558886 | ENSG00000170145.4 | ENST00000304987.3 |
exon_skip_64873 | 11 | 111558724:111558886:111571609:111571734:111572175:111572299 | 111571609:111571734 | ENSG00000170145.4 | ENST00000304987.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIK2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_64870 | 11 | 111486966:111487083:111491062:111491126:111558724:111558886 | 111491062:111491126 | ENSG00000170145.4 | ENST00000304987.3 |
exon_skip_64872 | 11 | 111491062:111491126:111558724:111558886:111571609:111571734 | 111558724:111558886 | ENSG00000170145.4 | ENST00000304987.3 |
exon_skip_64873 | 11 | 111558724:111558886:111571609:111571734:111572175:111572299 | 111571609:111571734 | ENSG00000170145.4 | ENST00000304987.3 |
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 SIK2 |
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 |
ENST00000304987 | 111491062 | 111491126 | Frame-shift |
ENST00000304987 | 111571609 | 111571734 | Frame-shift |
ENST00000304987 | 111558724 | 111558886 | 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 |
ENST00000304987 | 111491062 | 111491126 | Frame-shift |
ENST00000304987 | 111571609 | 111571734 | Frame-shift |
ENST00000304987 | 111558724 | 111558886 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIK2 |
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 |
ENST00000304987 | 9695 | 926 | 111558724 | 111558886 | 490 | 651 | 105 | 159 |
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 |
ENST00000304987 | 9695 | 926 | 111558724 | 111558886 | 490 | 651 | 105 | 159 |
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 SIK2 |
- 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 |
READ | TCGA-DC-6154-01 | exon_skip_64870 | 111491063 | 111491126 | 111491069 | 111491070 | Frame_Shift_Del | GA | - | p.86_87del |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_64870 | 111491063 | 111491126 | 111491075 | 111491075 | Frame_Shift_Del | A | - | p.K89fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_64870 | 111491063 | 111491126 | 111491089 | 111491089 | Frame_Shift_Del | C | - | p.Y93fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_64873 | 111571610 | 111571734 | 111571630 | 111571630 | Frame_Shift_Del | T | - | p.F167fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_64873 | 111571610 | 111571734 | 111571682 | 111571682 | Frame_Shift_Del | C | - | p.A184fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_64873 | 111571610 | 111571734 | 111571682 | 111571682 | Frame_Shift_Del | C | - | p.A184fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_64873 | 111571610 | 111571734 | 111571699 | 111571699 | Frame_Shift_Del | G | - | p.G190fs |
HNSC | TCGA-CN-5361-01 | exon_skip_64873 | 111571610 | 111571734 | 111571666 | 111571667 | Frame_Shift_Ins | - | G | p.P179fs |
ESCA | TCGA-LN-A49P-01 | exon_skip_64870 | 111491063 | 111491126 | 111491117 | 111491117 | Nonsense_Mutation | G | T | p.E103* |
ESCA | TCGA-LN-A49P-01 | exon_skip_64870 | 111491063 | 111491126 | 111491117 | 111491117 | Nonsense_Mutation | G | T | p.E103X |
READ | TCGA-AG-A002-01 | exon_skip_64870 | 111491063 | 111491126 | 111491117 | 111491117 | Nonsense_Mutation | G | T | p.E103X |
READ | TCGA-F5-6814-01 | exon_skip_64870 | 111491063 | 111491126 | 111491117 | 111491117 | Nonsense_Mutation | G | T | p.E103X |
STAD | TCGA-BR-4361-01 | exon_skip_64872 | 111558725 | 111558886 | 111558769 | 111558769 | Nonsense_Mutation | C | T | p.R121* |
STAD | TCGA-BR-4361-01 | exon_skip_64872 | 111558725 | 111558886 | 111558769 | 111558769 | Nonsense_Mutation | C | T | p.R121X |
BLCA | TCGA-GC-A3WC-01 | exon_skip_64872 | 111558725 | 111558886 | 111558772 | 111558772 | Nonsense_Mutation | A | T | p.K122* |
STAD | TCGA-HF-7136-01 | exon_skip_64873 | 111571610 | 111571734 | 111571702 | 111571702 | Nonsense_Mutation | C | T | p.Q191* |
STAD | TCGA-HF-7136-01 | exon_skip_64873 | 111571610 | 111571734 | 111571702 | 111571702 | Nonsense_Mutation | C | T | p.Q191X |
UCEC | TCGA-BS-A0UV-01 | exon_skip_64873 | 111571610 | 111571734 | 111571609 | 111571609 | Splice_Site | G | T | e5-1 |
- 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 |
DV90_LUNG | 111491063 | 111491126 | 111491108 | 111491108 | Frame_Shift_Del | A | - | p.K100fs |
IGROV1_OVARY | 111491063 | 111491126 | 111491121 | 111491121 | Frame_Shift_Del | T | - | p.I104fs |
LOVO_LARGE_INTESTINE | 111571610 | 111571734 | 111571668 | 111571668 | Frame_Shift_Del | C | - | p.S179fs |
MEWO_SKIN | 111571610 | 111571734 | 111571668 | 111571668 | Frame_Shift_Del | C | - | p.S179fs |
HS834T_FIBROBLAST | 111571610 | 111571734 | 111571666 | 111571667 | Frame_Shift_Ins | - | G | p.S179fs |
RD_SOFT_TISSUE | 111571610 | 111571734 | 111571666 | 111571667 | Frame_Shift_Ins | - | G | p.S179fs |
KM12_LARGE_INTESTINE | 111558725 | 111558886 | 111558794 | 111558794 | Missense_Mutation | C | T | p.A129V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 111571610 | 111571734 | 111571637 | 111571637 | Missense_Mutation | G | C | p.S169T |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111571610 | 111571734 | 111571637 | 111571637 | Missense_Mutation | G | C | p.S169T |
S117_SOFT_TISSUE | 111571610 | 111571734 | 111571637 | 111571637 | Missense_Mutation | G | C | p.S169T |
HEC251_ENDOMETRIUM | 111571610 | 111571734 | 111571657 | 111571657 | Missense_Mutation | T | C | p.W176R |
HS766T_PANCREAS | 111571610 | 111571734 | 111571722 | 111571722 | Missense_Mutation | G | C | p.Q197H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIK2 |
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 SIK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIK2 |
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RelatedDrugs for SIK2 |
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 |
Q9H0K1 | DB12010 | Fostamatinib | Serine/threonine-protein kinase SIK2 | small molecule | approved|investigational |
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RelatedDiseases for SIK2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |