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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 SIK3 |
Gene summary |
Gene information | Gene symbol | SIK3 | Gene ID | 23387 |
Gene name | SIK family kinase 3 | |
Synonyms | L19|QSK|SIK-3 | |
Cytomap | 11q23.3 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein kinase SIK3salt-inducible kinase 3serine/threonine-protein kinase QSK | |
Modification date | 20180523 | |
UniProtAcc | Q9Y2K2 | |
Context | PubMed: SIK3 [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 |
SIK3 | GO:0006468 | protein phosphorylation | 14976552 |
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Exon skipping events across known transcript of Ensembl for SIK3 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 SIK3 |
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 SIK3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_77612 | 11 | 116729980:116730320:116731989:116732099:116732556:116732642 | 116731989:116732099 | ENSG00000160584.11 | ENST00000375300.1,ENST00000434315.2,ENST00000465421.1,ENST00000415541.1,ENST00000542607.1,ENST00000292055.4,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77613 | 11 | 116731989:116732099:116732556:116732642:116732917:116733043 | 116732556:116732642 | ENSG00000160584.11 | ENST00000375300.1,ENST00000434315.2,ENST00000465421.1,ENST00000415541.1,ENST00000542607.1,ENST00000292055.4,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77614 | 11 | 116732917:116733043:116734383:116734534:116738661:116738805 | 116734383:116734534 | ENSG00000160584.11 | ENST00000542607.1,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77617 | 11 | 116734383:116734534:116738661:116738805:116741046:116741117 | 116738661:116738805 | ENSG00000160584.11 | ENST00000542607.1,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77619 | 11 | 116745873:116745983:116746089:116746167:116746968:116747079 | 116746089:116746167 | ENSG00000160584.11 | ENST00000542607.1,ENST00000446921.2 |
exon_skip_77621 | 11 | 116746089:116746167:116746581:116746725:116746968:116747079 | 116746581:116746725 | ENSG00000160584.11 | ENST00000375300.1,ENST00000434315.2,ENST00000375288.1,ENST00000415541.1,ENST00000413553.1,ENST00000292055.4,ENST00000445177.1 |
exon_skip_77622 | 11 | 116746968:116747079:116747639:116747758:116766968:116767092 | 116747639:116747758 | ENSG00000160584.11 | ENST00000375300.1,ENST00000434315.2,ENST00000375288.1,ENST00000415541.1,ENST00000542607.1,ENST00000413553.1,ENST00000292055.4,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77623 | 11 | 116767908:116768033:116797934:116798096:116824759:116824823 | 116797934:116798096 | ENSG00000160584.11 | ENST00000375300.1,ENST00000375288.1,ENST00000542607.1,ENST00000497049.1,ENST00000413553.1,ENST00000292055.4,ENST00000445177.1,ENST00000446921.2 |
exon_skip_77625 | 11 | 116797934:116798096:116820848:116820972:116824759:116824823 | 116820848:116820972 | ENSG00000160584.11 | ENST00000434315.2,ENST00000415541.1 |
exon_skip_77627 | 11 | 116797934:116798096:116824759:116824823:116827663:116827760 | 116824759:116824823 | ENSG00000160584.11 | ENST00000375300.1,ENST00000375288.1,ENST00000542607.1,ENST00000497049.1,ENST00000485363.1,ENST00000413553.1,ENST00000292055.4,ENST00000445177.1,ENST00000446921.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIK3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_77612 | 11 | 116729980:116730320:116731989:116732099:116732556:116732642 | 116731989:116732099 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000465421.1,ENST00000542607.1,ENST00000434315.2,ENST00000415541.1,ENST00000446921.2 |
exon_skip_77613 | 11 | 116731989:116732099:116732556:116732642:116732917:116733043 | 116732556:116732642 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000465421.1,ENST00000542607.1,ENST00000434315.2,ENST00000415541.1,ENST00000446921.2 |
exon_skip_77614 | 11 | 116732917:116733043:116734383:116734534:116738661:116738805 | 116734383:116734534 | ENSG00000160584.11 | ENST00000445177.1,ENST00000542607.1,ENST00000446921.2 |
exon_skip_77617 | 11 | 116734383:116734534:116738661:116738805:116741046:116741117 | 116738661:116738805 | ENSG00000160584.11 | ENST00000445177.1,ENST00000542607.1,ENST00000446921.2 |
exon_skip_77619 | 11 | 116745873:116745983:116746089:116746167:116746968:116747079 | 116746089:116746167 | ENSG00000160584.11 | ENST00000542607.1,ENST00000446921.2 |
exon_skip_77621 | 11 | 116746089:116746167:116746581:116746725:116746968:116747079 | 116746581:116746725 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000375288.1,ENST00000434315.2,ENST00000415541.1,ENST00000413553.1 |
exon_skip_77622 | 11 | 116746968:116747079:116747639:116747758:116766968:116767092 | 116747639:116747758 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000375288.1,ENST00000542607.1,ENST00000434315.2,ENST00000415541.1,ENST00000446921.2,ENST00000413553.1 |
exon_skip_77623 | 11 | 116767908:116768033:116797934:116798096:116824759:116824823 | 116797934:116798096 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000375288.1,ENST00000542607.1,ENST00000446921.2,ENST00000413553.1,ENST00000497049.1 |
exon_skip_77625 | 11 | 116797934:116798096:116820848:116820972:116824759:116824823 | 116820848:116820972 | ENSG00000160584.11 | ENST00000434315.2,ENST00000415541.1 |
exon_skip_77627 | 11 | 116797934:116798096:116824759:116824823:116827663:116827760 | 116824759:116824823 | ENSG00000160584.11 | ENST00000445177.1,ENST00000375300.1,ENST00000292055.4,ENST00000375288.1,ENST00000542607.1,ENST00000446921.2,ENST00000413553.1,ENST00000497049.1,ENST00000485363.1 |
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 SIK3 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for SIK3 |
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 |
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 |
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 SIK3 |
- 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. |
SIK3_BRCA_exon_skip_77623_psi_boxplot.png |
SIK3_SKCM_exon_skip_77621_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 |
LIHC | TCGA-DD-A1EG-01 | exon_skip_77612 | 116731990 | 116732099 | 116732018 | 116732018 | Frame_Shift_Del | G | - | p.P751fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_77612 | 116731990 | 116732099 | 116732018 | 116732018 | Frame_Shift_Del | G | - | p.P751fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_77614 | 116734384 | 116734534 | 116734419 | 116734419 | Frame_Shift_Del | T | - | p.M642fs |
UCEC | TCGA-BS-A0UL-01 | exon_skip_77614 | 116734384 | 116734534 | 116734419 | 116734419 | Frame_Shift_Del | T | - | p.M584fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_77622 | 116747640 | 116747758 | 116747663 | 116747663 | Frame_Shift_Del | C | - | p.D321fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_77623 | 116797935 | 116798096 | 116797941 | 116797941 | Frame_Shift_Del | T | - | p.I204fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_77623 | 116797935 | 116798096 | 116797973 | 116797973 | Frame_Shift_Del | T | - | p.N193fs |
STAD | TCGA-BR-7196-01 | exon_skip_77623 | 116797935 | 116798096 | 116798045 | 116798045 | Frame_Shift_Del | A | - | p.F111fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_77623 | 116797935 | 116798096 | 116798063 | 116798063 | Frame_Shift_Del | T | - | p.K163fs |
BLCA | TCGA-FD-A43X-01 | exon_skip_77612 | 116731990 | 116732099 | 116732089 | 116732089 | Nonsense_Mutation | G | A | p.Q728* |
SKCM | TCGA-EE-A2MC-06 | exon_skip_77613 | 116732557 | 116732642 | 116732561 | 116732561 | Nonsense_Mutation | G | A | p.Q723* |
BRCA | TCGA-AN-A0XW-01 | exon_skip_77613 | 116732557 | 116732642 | 116732606 | 116732606 | Nonsense_Mutation | G | A | p.Q650* |
SKCM | TCGA-EE-A3JA-06 | exon_skip_77621 | 116746582 | 116746725 | 116746668 | 116746668 | Nonsense_Mutation | G | A | p.R327X |
SKCM | TCGA-EE-A3JA-06 | exon_skip_77621 | 116746582 | 116746725 | 116746668 | 116746668 | Nonsense_Mutation | G | A | p.R385* |
BRCA | TCGA-BH-A0HP-01 | exon_skip_77623 | 116797935 | 116798096 | 116798097 | 116798097 | Splice_Site | C | A | e4-1 |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
IM95_STOMACH | 116734384 | 116734534 | 116734419 | 116734419 | Frame_Shift_Del | T | - | p.M584fs |
NCIH2141_LUNG | 116731990 | 116732099 | 116732026 | 116732026 | Missense_Mutation | G | T | p.P691T |
BICR18_UPPER_AERODIGESTIVE_TRACT | 116731990 | 116732099 | 116732058 | 116732058 | Missense_Mutation | T | C | p.N680S |
SNU601_STOMACH | 116732557 | 116732642 | 116732568 | 116732568 | Missense_Mutation | A | C | p.H662Q |
647V_URINARY_TRACT | 116732557 | 116732642 | 116732570 | 116732570 | Missense_Mutation | G | A | p.H662Y |
JHH2_LIVER | 116734384 | 116734534 | 116734397 | 116734397 | Missense_Mutation | T | C | p.K591R |
BICR18_UPPER_AERODIGESTIVE_TRACT | 116734384 | 116734534 | 116734409 | 116734409 | Missense_Mutation | T | C | p.N587S |
NCIN87_STOMACH | 116734384 | 116734534 | 116734431 | 116734431 | Missense_Mutation | G | A | p.H580Y |
LUDLU1_LUNG | 116734384 | 116734534 | 116734455 | 116734455 | Missense_Mutation | C | A | p.A572S |
LS513_LARGE_INTESTINE | 116746582 | 116746725 | 116746595 | 116746595 | Missense_Mutation | G | T | p.P351Q |
HCC1588_LUNG | 116746582 | 116746725 | 116746595 | 116746595 | Missense_Mutation | G | T | p.P351Q |
HS578T_BREAST | 116746582 | 116746725 | 116746655 | 116746655 | Missense_Mutation | T | A | p.H331L |
COLO684_ENDOMETRIUM | 116747640 | 116747758 | 116747702 | 116747702 | Missense_Mutation | T | C | p.M250V |
COLO704_OVARY | 116747640 | 116747758 | 116747702 | 116747702 | Missense_Mutation | T | C | p.M250V |
HSC1_SKIN | 116747640 | 116747758 | 116747711 | 116747711 | Missense_Mutation | G | A | p.R247C |
SNU1040_LARGE_INTESTINE | 116797935 | 116798096 | 116797991 | 116797991 | Missense_Mutation | C | T | p.R129H |
SNU1040_LARGE_INTESTINE | 116797935 | 116798096 | 116797991 | 116797992 | Missense_Mutation | CG | TA | p.R129Y |
HCT116_LARGE_INTESTINE | 116797935 | 116798096 | 116798007 | 116798007 | Missense_Mutation | G | A | p.R124W |
DV90_LUNG | 116797935 | 116798096 | 116798051 | 116798051 | Missense_Mutation | C | T | p.R109Q |
MDAMB453_BREAST | 116824760 | 116824823 | 116824769 | 116824769 | Missense_Mutation | C | T | p.E91K |
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 116824760 | 116824823 | 116824807 | 116824807 | Missense_Mutation | C | T | p.R78Q |
MCC13_SKIN | 116731990 | 116732099 | 116731999 | 116731999 | Nonsense_Mutation | G | A | p.Q700* |
NCIH1703_LUNG | 116746090 | 116746167 | 116746166 | 116746166 | Splice_Site | G | A | p.A356V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIK3 |
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 SIK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIK3 |
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RelatedDrugs for SIK3 |
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 |
Q9Y2K2 | DB12010 | Fostamatinib | Serine/threonine-protein kinase SIK3 {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for SIK3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |