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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 DGKQ |
Gene summary |
Gene information | Gene symbol | DGKQ | Gene ID | 1609 |
Gene name | diacylglycerol kinase theta | |
Synonyms | DAGK|DAGK4|DAGK7 | |
Cytomap | 4p16.3 | |
Type of gene | protein-coding | |
Description | diacylglycerol kinase thetaDAG kinase thetaDGK-thetadiacylglycerol kinase, theta 110kDadiglyceride kinase thetatestis tissue sperm-binding protein Li 38a | |
Modification date | 20180519 | |
UniProtAcc | P52824 | |
Context | PubMed: DGKQ [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 |
DGKQ | GO:0006357 | regulation of transcription by RNA polymerase II | 17664281 |
DGKQ | GO:0006654 | phosphatidic acid biosynthetic process | 22732145 |
DGKQ | GO:0008277 | regulation of G-protein coupled receptor protein signaling pathway | 22732145 |
DGKQ | GO:0010801 | negative regulation of peptidyl-threonine phosphorylation | 22732145 |
DGKQ | GO:0019933 | cAMP-mediated signaling | 17664281 |
DGKQ | GO:0033198 | response to ATP | 15632189 |
DGKQ | GO:0046339 | diacylglycerol metabolic process | 11309392|22627129 |
DGKQ | GO:0046486 | glycerolipid metabolic process | 22627129 |
DGKQ | GO:0046834 | lipid phosphorylation | 11309392|22627129 |
DGKQ | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 22732145 |
DGKQ | GO:0051591 | response to cAMP | 23610160 |
DGKQ | GO:0070493 | thrombin-activated receptor signaling pathway | 15632189 |
DGKQ | GO:0070528 | protein kinase C signaling | 15632189 |
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Exon skipping events across known transcript of Ensembl for DGKQ 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 DGKQ |
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 DGKQ |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_427563 | 4 | 955254:955366:955475:955622:955769:955870 | 955475:955622 | ENSG00000145214.9 | ENST00000509465.1,ENST00000273814.3 |
exon_skip_427565 | 4 | 956222:956401:956559:956708:956926:957078 | 956559:956708 | ENSG00000145214.9 | ENST00000509465.1,ENST00000273814.3 |
exon_skip_427570 | 4 | 956929:957078:957860:957881:958963:959079 | 957860:957881 | ENSG00000145214.9 | ENST00000502309.1 |
exon_skip_427572 | 4 | 958963:959079:959278:959317:959715:959866 | 959278:959317 | ENSG00000145214.9 | ENST00000273814.3 |
exon_skip_427574 | 4 | 959278:959317:959715:959866:960253:960315 | 959715:959866 | ENSG00000145214.9 | ENST00000273814.3 |
exon_skip_427575 | 4 | 959278:959317:959851:960089:960253:960315 | 959851:960089 | ENSG00000145214.9 | ENST00000502309.1 |
exon_skip_427578 | 4 | 962266:962352:962598:962698:964780:964860 | 962598:962698 | ENSG00000145214.9 | ENST00000510286.1,ENST00000509465.1,ENST00000273814.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DGKQ |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_427563 | 4 | 955254:955366:955475:955622:955769:955870 | 955475:955622 | ENSG00000145214.9 | ENST00000273814.3,ENST00000509465.1 |
exon_skip_427565 | 4 | 956222:956401:956559:956708:956926:957078 | 956559:956708 | ENSG00000145214.9 | ENST00000273814.3,ENST00000509465.1 |
exon_skip_427570 | 4 | 956929:957078:957860:957881:958963:959079 | 957860:957881 | ENSG00000145214.9 | ENST00000502309.1 |
exon_skip_427572 | 4 | 958963:959079:959278:959317:959715:959866 | 959278:959317 | ENSG00000145214.9 | ENST00000273814.3 |
exon_skip_427574 | 4 | 959278:959317:959715:959866:960253:960315 | 959715:959866 | ENSG00000145214.9 | ENST00000273814.3 |
exon_skip_427575 | 4 | 959278:959317:959851:960089:960253:960315 | 959851:960089 | ENSG00000145214.9 | ENST00000502309.1 |
exon_skip_427578 | 4 | 962266:962352:962598:962698:964780:964860 | 962598:962698 | ENSG00000145214.9 | ENST00000273814.3,ENST00000509465.1,ENST00000510286.1 |
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 DGKQ |
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 |
ENST00000273814 | 956559 | 956708 | Frame-shift |
ENST00000273814 | 959715 | 959866 | Frame-shift |
ENST00000273814 | 962598 | 962698 | Frame-shift |
ENST00000273814 | 955475 | 955622 | In-frame |
ENST00000273814 | 959278 | 959317 | 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 |
ENST00000273814 | 956559 | 956708 | Frame-shift |
ENST00000273814 | 959715 | 959866 | Frame-shift |
ENST00000273814 | 962598 | 962698 | Frame-shift |
ENST00000273814 | 955475 | 955622 | In-frame |
ENST00000273814 | 959278 | 959317 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DGKQ |
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 |
ENST00000273814 | 4653 | 942 | 959278 | 959317 | 1654 | 1692 | 526 | 539 |
ENST00000273814 | 4653 | 942 | 955475 | 955622 | 2390 | 2536 | 772 | 820 |
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 |
ENST00000273814 | 4653 | 942 | 959278 | 959317 | 1654 | 1692 | 526 | 539 |
ENST00000273814 | 4653 | 942 | 955475 | 955622 | 2390 | 2536 | 772 | 820 |
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 |
P52824 | 526 | 539 | 1 | 942 | Chain | ID=PRO_0000218467;Note=Diacylglycerol kinase theta |
P52824 | 772 | 820 | 1 | 942 | Chain | ID=PRO_0000218467;Note=Diacylglycerol kinase theta |
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 |
P52824 | 526 | 539 | 1 | 942 | Chain | ID=PRO_0000218467;Note=Diacylglycerol kinase theta |
P52824 | 772 | 820 | 1 | 942 | Chain | ID=PRO_0000218467;Note=Diacylglycerol kinase theta |
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SNVs in the skipped exons for DGKQ |
- 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-DD-A1EG-01 | exon_skip_427565 | 956560 | 956708 | 956623 | 956623 | Frame_Shift_Del | C | - | p.E659fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_427565 | 956560 | 956708 | 956661 | 956661 | Frame_Shift_Del | C | - | p.G646fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_427578 | 962599 | 962698 | 962686 | 962686 | Frame_Shift_Del | G | - | p.H122fs |
SKCM | TCGA-EE-A29P-06 | exon_skip_427572 | 959279 | 959317 | 959282 | 959282 | Nonsense_Mutation | G | A | p.Q539* |
THCA | TCGA-EL-A3CU-01 | exon_skip_427574 | 959716 | 959866 | 959854 | 959854 | Nonsense_Mutation | G | A | p.Q481* |
THCA | TCGA-EL-A3CU-01 | exon_skip_427575 | 959852 | 960089 | 959854 | 959854 | Nonsense_Mutation | G | A | p.Q481* |
LIHC | TCGA-2Y-A9GZ-01 | exon_skip_427563 | 955476 | 955622 | 955623 | 955623 | Splice_Site | C | T | . |
KIRP | TCGA-UZ-A9PK-01 | exon_skip_427574 | 959716 | 959866 | 959714 | 959715 | Splice_Site | - | C | . |
- 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 |
HCC2450_LUNG | 955476 | 955622 | 955506 | 955506 | Missense_Mutation | A | T | p.I811N |
KYSE410_OESOPHAGUS | 956560 | 956708 | 956595 | 956595 | Missense_Mutation | G | A | p.P667L |
2313287_STOMACH | 956560 | 956708 | 956629 | 956629 | Missense_Mutation | C | T | p.A656T |
SCH_STOMACH | 956560 | 956708 | 956647 | 956647 | Missense_Mutation | C | T | p.V650M |
NCIH358_LUNG | 956560 | 956708 | 956659 | 956659 | Missense_Mutation | C | A | p.G646C |
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 956560 | 956708 | 956688 | 956688 | Missense_Mutation | A | G | p.V636A |
SNU1_STOMACH | 959716 | 959866 | 959728 | 959728 | Missense_Mutation | C | T | p.G523R |
59M_OVARY | 959716 | 959866 | 959822 | 959822 | Missense_Mutation | C | G | p.E491D |
HS172T_FIBROBLAST | 959716 | 959866 | 959822 | 959822 | Missense_Mutation | C | G | p.E491D |
PATU8988T_PANCREAS | 962599 | 962698 | 962603 | 962603 | Missense_Mutation | G | C | p.C149W |
PATU8988S_PANCREAS | 962599 | 962698 | 962603 | 962603 | Missense_Mutation | G | C | p.C149W |
SNUC4_LARGE_INTESTINE | 962599 | 962698 | 962611 | 962611 | Missense_Mutation | G | T | p.L147I |
KYSE150_OESOPHAGUS | 962599 | 962698 | 962616 | 962616 | Missense_Mutation | G | A | p.P145L |
SKPNDW_BONE | 962599 | 962698 | 962635 | 962635 | Missense_Mutation | G | T | p.R139S |
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 956560 | 956708 | 956608 | 956608 | Nonsense_Mutation | G | A | p.R663* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DGKQ |
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 DGKQ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DGKQ |
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RelatedDrugs for DGKQ |
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 DGKQ |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
DGKQ | C1527336 | Sjogren's Syndrome | 1 | CTD_human |