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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 DGKZ |
 Gene summary |
| Gene information | Gene symbol | DGKZ | Gene ID | 8525 |
| Gene name | diacylglycerol kinase zeta | |
| Synonyms | DAGK5|DAGK6|DGK-ZETA|hDGKzeta | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | diacylglycerol kinase zetaDAG kinase zetadiacylglycerol kinase, zeta 104kDadiglyceride kinase zeta | |
| Modification date | 20180519 | |
| UniProtAcc | Q13574 | |
| Context | PubMed: DGKZ [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 |
| DGKZ | GO:0046339 | diacylglycerol metabolic process | 22627129 |
| DGKZ | GO:0046486 | glycerolipid metabolic process | 22627129 |
| DGKZ | GO:0046834 | lipid phosphorylation | 18004883|22627129 |
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Exon skipping events across known transcript of Ensembl for DGKZ 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 DGKZ |
| 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 DGKZ |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENSG00000149091.11 | ENST00000525434.1 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENSG00000149091.11 | ENST00000454345.1 |
| exon_skip_58696 | 11 | 46388864:46388949:46389201:46389297:46389551:46389557 | 46389201:46389297 | ENSG00000149091.11 | ENST00000395574.3,ENST00000525242.1,ENST00000531879.1,ENST00000421244.2,ENST00000534215.1,ENST00000318201.8,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58697 | 11 | 46388864:46388949:46389201:46389297:46389554:46389629 | 46389201:46389297 | ENSG00000149091.11 | ENST00000456247.2,ENST00000524984.1,ENST00000343674.6,ENST00000454345.1 |
| exon_skip_58699 | 11 | 46388864:46388949:46389204:46389297:46389551:46389557 | 46389204:46389297 | ENSG00000149091.11 | ENST00000532868.2 |
| exon_skip_58716 | 11 | 46389204:46389297:46389551:46389629:46391043:46391100 | 46389551:46389629 | ENSG00000149091.11 | ENST00000395574.3,ENST00000531879.1,ENST00000421244.2,ENST00000532868.2,ENST00000318201.8,ENST00000527911.1 |
| exon_skip_58722 | 11 | 46389204:46389297:46389554:46389629:46391043:46391100 | 46389554:46389629 | ENSG00000149091.11 | ENST00000456247.2,ENST00000343674.6,ENST00000454345.1 |
| exon_skip_58734 | 11 | 46389554:46389629:46390913:46391100:46391490:46391559 | 46390913:46391100 | ENSG00000149091.11 | ENST00000524984.1 |
| exon_skip_58737 | 11 | 46389554:46389629:46391043:46391100:46391490:46391559 | 46391043:46391100 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000527911.1 |
| exon_skip_58738 | 11 | 46389554:46389629:46391043:46391100:46392862:46392934 | 46391043:46391100 | ENSG00000149091.11 | ENST00000531879.1,ENST00000318201.8 |
| exon_skip_58750 | 11 | 46391043:46391100:46391490:46391559:46392862:46392934 | 46391490:46391559 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000524984.1,ENST00000533376.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000524448.1,ENST00000527911.1 |
| exon_skip_58752 | 11 | 46391043:46391100:46392862:46392934:46393036:46393153 | 46392862:46392934 | ENSG00000149091.11 | ENST00000531879.1,ENST00000318201.8 |
| exon_skip_58753 | 11 | 46391490:46391559:46392862:46392934:46393036:46393153 | 46392862:46392934 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000524984.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58756 | 11 | 46393977:46394060:46394166:46394227:46394320:46394393 | 46394166:46394227 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000524984.1,ENST00000531879.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58759 | 11 | 46394510:46394651:46395706:46395785:46395948:46396004 | 46395706:46395785 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000524984.1,ENST00000531879.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58760 | 11 | 46396157:46396216:46396315:46396389:46396483:46396595 | 46396315:46396389 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000524984.1,ENST00000531879.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58764 | 11 | 46398073:46398114:46398622:46398762:46399747:46399779 | 46398622:46398762 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000543978.1,ENST00000524984.1,ENST00000531879.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000528173.1,ENST00000527911.1 |
| exon_skip_58767 | 11 | 46399747:46399779:46400006:46400050:46400540:46400661 | 46400006:46400050 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000543978.1,ENST00000524984.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000527911.1 |
| exon_skip_58769 | 11 | 46400006:46400050:46400443:46400661:46400752:46400786 | 46400443:46400661 | ENSG00000149091.11 | ENST00000529660.1 |
| exon_skip_58770 | 11 | 46400006:46400050:46400540:46400661:46400752:46400786 | 46400540:46400661 | ENSG00000149091.11 | ENST00000456247.2,ENST00000395574.3,ENST00000543978.1,ENST00000524984.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8,ENST00000527911.1 |
| exon_skip_58775 | 11 | 46400752:46400786:46401003:46401118:46401380:46401497 | 46401003:46401118 | ENSG00000149091.11 | ENST00000527911.1 |
| exon_skip_58776 | 11 | 46400752:46400786:46401018:46401118:46401380:46401497 | 46401018:46401118 | ENSG00000149091.11 | ENST00000456247.2,ENST00000534802.1,ENST00000395574.3,ENST00000543978.1,ENST00000524984.1,ENST00000343674.6,ENST00000421244.2,ENST00000454345.1,ENST00000532868.2,ENST00000528615.1,ENST00000318201.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DGKZ |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENSG00000149091.11 | ENST00000525434.1 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENSG00000149091.11 | ENST00000454345.1 |
| exon_skip_58696 | 11 | 46388864:46388949:46389201:46389297:46389551:46389557 | 46389201:46389297 | ENSG00000149091.11 | ENST00000525242.1,ENST00000531879.1,ENST00000395574.3,ENST00000527911.1,ENST00000421244.2,ENST00000318201.8,ENST00000534215.1,ENST00000528173.1 |
| exon_skip_58697 | 11 | 46388864:46388949:46389201:46389297:46389554:46389629 | 46389201:46389297 | ENSG00000149091.11 | ENST00000343674.6,ENST00000524984.1,ENST00000456247.2,ENST00000454345.1 |
| exon_skip_58699 | 11 | 46388864:46388949:46389204:46389297:46389551:46389557 | 46389204:46389297 | ENSG00000149091.11 | ENST00000532868.2 |
| exon_skip_58716 | 11 | 46389204:46389297:46389551:46389629:46391043:46391100 | 46389551:46389629 | ENSG00000149091.11 | ENST00000532868.2,ENST00000531879.1,ENST00000395574.3,ENST00000527911.1,ENST00000421244.2,ENST00000318201.8 |
| exon_skip_58722 | 11 | 46389204:46389297:46389554:46389629:46391043:46391100 | 46389554:46389629 | ENSG00000149091.11 | ENST00000343674.6,ENST00000456247.2,ENST00000454345.1 |
| exon_skip_58734 | 11 | 46389554:46389629:46390913:46391100:46391490:46391559 | 46390913:46391100 | ENSG00000149091.11 | ENST00000524984.1 |
| exon_skip_58737 | 11 | 46389554:46389629:46391043:46391100:46391490:46391559 | 46391043:46391100 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000395574.3,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000454345.1 |
| exon_skip_58738 | 11 | 46389554:46389629:46391043:46391100:46392862:46392934 | 46391043:46391100 | ENSG00000149091.11 | ENST00000531879.1,ENST00000318201.8 |
| exon_skip_58750 | 11 | 46391043:46391100:46391490:46391559:46392862:46392934 | 46391490:46391559 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000524984.1,ENST00000395574.3,ENST00000527911.1,ENST00000533376.1,ENST00000456247.2,ENST00000421244.2,ENST00000454345.1,ENST00000524448.1 |
| exon_skip_58752 | 11 | 46391043:46391100:46392862:46392934:46393036:46393153 | 46392862:46392934 | ENSG00000149091.11 | ENST00000531879.1,ENST00000318201.8 |
| exon_skip_58753 | 11 | 46391490:46391559:46392862:46392934:46393036:46393153 | 46392862:46392934 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000524984.1,ENST00000395574.3,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000454345.1,ENST00000528173.1 |
| exon_skip_58756 | 11 | 46393977:46394060:46394166:46394227:46394320:46394393 | 46394166:46394227 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000531879.1,ENST00000524984.1,ENST00000395574.3,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1,ENST00000528173.1 |
| exon_skip_58759 | 11 | 46394510:46394651:46395706:46395785:46395948:46396004 | 46395706:46395785 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000531879.1,ENST00000524984.1,ENST00000395574.3,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1,ENST00000528173.1 |
| exon_skip_58760 | 11 | 46396157:46396216:46396315:46396389:46396483:46396595 | 46396315:46396389 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000531879.1,ENST00000524984.1,ENST00000395574.3,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1,ENST00000528173.1 |
| exon_skip_58764 | 11 | 46398073:46398114:46398622:46398762:46399747:46399779 | 46398622:46398762 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000531879.1,ENST00000524984.1,ENST00000395574.3,ENST00000543978.1,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1,ENST00000528173.1 |
| exon_skip_58767 | 11 | 46399747:46399779:46400006:46400050:46400540:46400661 | 46400006:46400050 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000524984.1,ENST00000395574.3,ENST00000543978.1,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1 |
| exon_skip_58769 | 11 | 46400006:46400050:46400443:46400661:46400752:46400786 | 46400443:46400661 | ENSG00000149091.11 | ENST00000529660.1 |
| exon_skip_58770 | 11 | 46400006:46400050:46400540:46400661:46400752:46400786 | 46400540:46400661 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000524984.1,ENST00000395574.3,ENST00000543978.1,ENST00000527911.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1 |
| exon_skip_58775 | 11 | 46400752:46400786:46401003:46401118:46401380:46401497 | 46401003:46401118 | ENSG00000149091.11 | ENST00000527911.1 |
| exon_skip_58776 | 11 | 46400752:46400786:46401018:46401118:46401380:46401497 | 46401018:46401118 | ENSG00000149091.11 | ENST00000343674.6,ENST00000532868.2,ENST00000528615.1,ENST00000524984.1,ENST00000395574.3,ENST00000543978.1,ENST00000456247.2,ENST00000421244.2,ENST00000318201.8,ENST00000454345.1,ENST00000534802.1 |
| 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 DGKZ |
| 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 |
| ENST00000454345 | 46387793 | 46388534 | 5CDS-5UTR |
| ENST00000454345 | 46394166 | 46394227 | Frame-shift |
| ENST00000454345 | 46395706 | 46395785 | Frame-shift |
| ENST00000454345 | 46396315 | 46396389 | Frame-shift |
| ENST00000454345 | 46398622 | 46398762 | Frame-shift |
| ENST00000454345 | 46400006 | 46400050 | Frame-shift |
| ENST00000454345 | 46400540 | 46400661 | Frame-shift |
| ENST00000454345 | 46401018 | 46401118 | Frame-shift |
| ENST00000454345 | 46389201 | 46389297 | In-frame |
| ENST00000454345 | 46389554 | 46389629 | In-frame |
| ENST00000454345 | 46391043 | 46391100 | In-frame |
| ENST00000454345 | 46391490 | 46391559 | In-frame |
| ENST00000454345 | 46392862 | 46392934 | 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 |
| ENST00000454345 | 46387793 | 46388534 | 5CDS-5UTR |
| ENST00000454345 | 46394166 | 46394227 | Frame-shift |
| ENST00000454345 | 46395706 | 46395785 | Frame-shift |
| ENST00000454345 | 46396315 | 46396389 | Frame-shift |
| ENST00000454345 | 46398622 | 46398762 | Frame-shift |
| ENST00000454345 | 46400006 | 46400050 | Frame-shift |
| ENST00000454345 | 46400540 | 46400661 | Frame-shift |
| ENST00000454345 | 46401018 | 46401118 | Frame-shift |
| ENST00000454345 | 46389201 | 46389297 | In-frame |
| ENST00000454345 | 46389554 | 46389629 | In-frame |
| ENST00000454345 | 46391043 | 46391100 | In-frame |
| ENST00000454345 | 46391490 | 46391559 | In-frame |
| ENST00000454345 | 46392862 | 46392934 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DGKZ |
| 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 |
| ENST00000454345 | 4103 | 1117 | 46389201 | 46389297 | 963 | 1058 | 279 | 311 |
| ENST00000454345 | 4103 | 1117 | 46389554 | 46389629 | 1059 | 1133 | 311 | 336 |
| ENST00000454345 | 4103 | 1117 | 46391043 | 46391100 | 1134 | 1190 | 336 | 355 |
| ENST00000454345 | 4103 | 1117 | 46391490 | 46391559 | 1191 | 1259 | 355 | 378 |
| ENST00000454345 | 4103 | 1117 | 46392862 | 46392934 | 1260 | 1331 | 378 | 402 |
| 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 |
| ENST00000454345 | 4103 | 1117 | 46389201 | 46389297 | 963 | 1058 | 279 | 311 |
| ENST00000454345 | 4103 | 1117 | 46389554 | 46389629 | 1059 | 1133 | 311 | 336 |
| ENST00000454345 | 4103 | 1117 | 46391043 | 46391100 | 1134 | 1190 | 336 | 355 |
| ENST00000454345 | 4103 | 1117 | 46391490 | 46391559 | 1191 | 1259 | 355 | 378 |
| ENST00000454345 | 4103 | 1117 | 46392862 | 46392934 | 1260 | 1331 | 378 | 402 |
| 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 DGKZ |
| - 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 |
| PRAD | TCGA-XQ-A8TB-01 | exon_skip_58692 | 46387794 | 46388534 | 46388339 | 46388339 | Frame_Shift_Del | G | - | p.W178fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_58696 exon_skip_58697 exon_skip_58699 | 46389202 | 46389297 | 46389217 | 46389217 | Frame_Shift_Del | G | - | p.G285fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_58696 exon_skip_58697 exon_skip_58699 | 46389205 | 46389297 | 46389217 | 46389217 | Frame_Shift_Del | G | - | p.G285fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58696 exon_skip_58697 exon_skip_58699 | 46389202 | 46389297 | 46389256 | 46389256 | Frame_Shift_Del | T | - | p.F298fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58696 exon_skip_58697 exon_skip_58699 | 46389205 | 46389297 | 46389256 | 46389256 | Frame_Shift_Del | T | - | p.F298fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_58756 | 46394167 | 46394227 | 46394213 | 46394213 | Frame_Shift_Del | G | - | p.C540fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_58756 | 46394167 | 46394227 | 46394213 | 46394213 | Frame_Shift_Del | G | - | p.G542fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_58756 | 46394167 | 46394227 | 46394213 | 46394213 | Frame_Shift_Del | G | - | p.C540fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58759 | 46395707 | 46395785 | 46395710 | 46395710 | Frame_Shift_Del | C | - | p.P632fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58760 | 46396316 | 46396389 | 46396358 | 46396358 | Frame_Shift_Del | C | - | p.K710fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_58760 | 46396316 | 46396389 | 46396358 | 46396358 | Frame_Shift_Del | C | - | p.P711fs |
| KICH | TCGA-KO-8404-01 | exon_skip_58764 | 46398623 | 46398762 | 46398729 | 46398730 | Frame_Shift_Del | CT | - | p.P958fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_58776 exon_skip_58775 | 46401004 | 46401118 | 46401089 | 46401089 | Frame_Shift_Del | G | - | p.G1070fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_58776 exon_skip_58775 | 46401019 | 46401118 | 46401089 | 46401089 | Frame_Shift_Del | G | - | p.G1070fs |
| THYM | TCGA-YT-A95H-01 | exon_skip_58769 | 46400444 | 46400661 | 46400561 | 46400562 | Frame_Shift_Ins | - | G | p.AG1001fs |
| THYM | TCGA-YT-A95H-01 | exon_skip_58769 | 46400444 | 46400661 | 46400561 | 46400562 | Frame_Shift_Ins | - | G | p.D1003fs |
| THYM | TCGA-YT-A95H-01 | exon_skip_58770 | 46400541 | 46400661 | 46400561 | 46400562 | Frame_Shift_Ins | - | G | p.AG1001fs |
| THYM | TCGA-YT-A95H-01 | exon_skip_58770 | 46400541 | 46400661 | 46400561 | 46400562 | Frame_Shift_Ins | - | G | p.D1003fs |
| HNSC | TCGA-CV-5444-01 | exon_skip_58767 | 46400007 | 46400050 | 46400012 | 46400012 | Nonsense_Mutation | G | T | p.E982* |
| UCEC | TCGA-AP-A059-01 | exon_skip_58767 | 46400007 | 46400050 | 46400051 | 46400051 | Splice_Site | G | A | e27+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-YT-A95H-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58769 | |
| Skipped exon start: 46400444 | |
| Skipped exon end: 46400661 | |
| Mutation start: 46400561 | |
| Mutation end: 46400562 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.AG1001fs | |
| Sample: TCGA-YT-A95H-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58770 | |
| Skipped exon start: 46400541 | |
| Skipped exon end: 46400661 | |
| Mutation start: 46400561 | |
| Mutation end: 46400562 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.AG1001fs | |
| Sample: TCGA-YT-A95H-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58769 | |
| Skipped exon start: 46400444 | |
| Skipped exon end: 46400661 | |
| Mutation start: 46400561 | |
| Mutation end: 46400562 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.D1003fs | |
| Sample: TCGA-YT-A95H-01 |
| Cancer type: THYM | |
| ESID: exon_skip_58770 | |
| Skipped exon start: 46400541 | |
| Skipped exon end: 46400661 | |
| Mutation start: 46400561 | |
| Mutation end: 46400562 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: G | |
| AAchange: p.D1003fs | |
exon_skip_332241_THYM_TCGA-YT-A95H-01.png | |
exon_skip_58769_THYM_TCGA-YT-A95H-01.png | |
| - 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 |
| EKVX_LUNG | 46387794 | 46388076 | 46387823 | 46387823 | Frame_Shift_Del | G | - | p.R7fs |
| EKVX_LUNG | 46387794 | 46388534 | 46387823 | 46387823 | Frame_Shift_Del | G | - | p.R7fs |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46387794 | 46388534 | 46388122 | 46388126 | Frame_Shift_Del | GCACC | - | p.AP106fs |
| IM95_STOMACH | 46387794 | 46388534 | 46388158 | 46388160 | In_Frame_Del | GAG | - | p.E120del |
| SNU283_LARGE_INTESTINE | 46387794 | 46388076 | 46387813 | 46387813 | Missense_Mutation | A | G | p.T3A |
| SNU283_LARGE_INTESTINE | 46387794 | 46388534 | 46387813 | 46387813 | Missense_Mutation | A | G | p.T3A |
| SBC1_LUNG | 46387794 | 46388076 | 46387882 | 46387882 | Missense_Mutation | G | A | p.V26M |
| SBC1_LUNG | 46387794 | 46388534 | 46387882 | 46387882 | Missense_Mutation | G | A | p.V26M |
| SCABER_URINARY_TRACT | 46387794 | 46388076 | 46387910 | 46387910 | Missense_Mutation | G | A | p.R35H |
| SCABER_URINARY_TRACT | 46387794 | 46388534 | 46387910 | 46387910 | Missense_Mutation | G | A | p.R35H |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46387794 | 46388076 | 46387982 | 46387982 | Missense_Mutation | G | A | p.C59Y |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46387794 | 46388534 | 46387982 | 46387982 | Missense_Mutation | G | A | p.C59Y |
| IGROV1_OVARY | 46387794 | 46388076 | 46387994 | 46387994 | Missense_Mutation | G | A | p.C63Y |
| IGROV1_OVARY | 46387794 | 46388534 | 46387994 | 46387994 | Missense_Mutation | G | A | p.C63Y |
| MFE319_ENDOMETRIUM | 46387794 | 46388076 | 46388012 | 46388012 | Missense_Mutation | G | A | p.G69D |
| MFE319_ENDOMETRIUM | 46387794 | 46388534 | 46388012 | 46388012 | Missense_Mutation | G | A | p.G69D |
| MFE319_ENDOMETRIUM | 46387794 | 46388076 | 46388018 | 46388018 | Missense_Mutation | G | A | p.S71N |
| MFE319_ENDOMETRIUM | 46387794 | 46388534 | 46388018 | 46388018 | Missense_Mutation | G | A | p.S71N |
| NCIH1703_LUNG | 46387794 | 46388076 | 46388020 | 46388020 | Missense_Mutation | C | A | p.R72S |
| NCIH1703_LUNG | 46387794 | 46388534 | 46388020 | 46388020 | Missense_Mutation | C | A | p.R72S |
| MFE319_ENDOMETRIUM | 46387794 | 46388076 | 46388077 | 46388077 | Missense_Mutation | G | A | p.V91M |
| MFE319_ENDOMETRIUM | 46387794 | 46388534 | 46388077 | 46388077 | Missense_Mutation | G | A | p.V91M |
| MFE319_ENDOMETRIUM | 46387794 | 46388534 | 46388101 | 46388101 | Missense_Mutation | G | C | p.V99L |
| M980513_SKIN | 46387794 | 46388534 | 46388174 | 46388174 | Missense_Mutation | A | G | p.Q123R |
| NCIH1573_LUNG | 46387794 | 46388534 | 46388350 | 46388350 | Missense_Mutation | G | A | p.G182S |
| CHLA258_BONE | 46387794 | 46388534 | 46388386 | 46388386 | Missense_Mutation | G | A | p.G194S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46387794 | 46388534 | 46388477 | 46388477 | Missense_Mutation | G | A | p.R224H |
| MFE319_ENDOMETRIUM | 46387794 | 46388534 | 46388482 | 46388482 | Missense_Mutation | G | A | p.V226I |
| LN215_CENTRAL_NERVOUS_SYSTEM | 46387794 | 46388534 | 46388527 | 46388527 | Missense_Mutation | C | G | p.L241V |
| NCIH650_LUNG | 46389202 | 46389297 | 46389292 | 46389292 | Missense_Mutation | A | T | p.M310L |
| NCIH650_LUNG | 46389205 | 46389297 | 46389292 | 46389292 | Missense_Mutation | A | T | p.M310L |
| SNU1040_LARGE_INTESTINE | 46389552 | 46389629 | 46389579 | 46389579 | Missense_Mutation | G | A | p.A320T |
| SNU1040_LARGE_INTESTINE | 46389555 | 46389629 | 46389579 | 46389579 | Missense_Mutation | G | A | p.A320T |
| NCIH2004RT_SOFT_TISSUE | 46391491 | 46391559 | 46391504 | 46391504 | Missense_Mutation | G | A | p.R360Q |
| ES1_BONE | 46392863 | 46392934 | 46392901 | 46392901 | Missense_Mutation | T | G | p.I391M |
| SNU1040_LARGE_INTESTINE | 46394167 | 46394227 | 46394181 | 46394181 | Missense_Mutation | G | A | p.R530H |
| HEC108_ENDOMETRIUM | 46394167 | 46394227 | 46394198 | 46394198 | Missense_Mutation | C | T | p.R536W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46394167 | 46394227 | 46394208 | 46394208 | Missense_Mutation | C | T | p.A539V |
| HEC1_ENDOMETRIUM | 46396316 | 46396389 | 46396383 | 46396383 | Missense_Mutation | T | A | p.I719N |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46396316 | 46396389 | 46396385 | 46396386 | Missense_Mutation | CC | TT | p.P720F |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46398623 | 46398762 | 46398651 | 46398651 | Missense_Mutation | C | T | p.A932V |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46398623 | 46398762 | 46398731 | 46398731 | Missense_Mutation | C | T | p.L959F |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46398623 | 46398762 | 46398731 | 46398731 | Missense_Mutation | C | T | p.L959F |
| BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46400444 | 46400661 | 46400595 | 46400595 | Missense_Mutation | C | T | p.R1013C |
| BDCM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46400541 | 46400661 | 46400595 | 46400595 | Missense_Mutation | C | T | p.R1013C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46400444 | 46400661 | 46400644 | 46400644 | Missense_Mutation | G | A | p.R1029H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46400541 | 46400661 | 46400644 | 46400644 | Missense_Mutation | G | A | p.R1029H |
| GMEL_SKIN | 46401019 | 46401118 | 46401025 | 46401025 | Missense_Mutation | G | T | p.E1048D |
| GMEL_SKIN | 46401004 | 46401118 | 46401025 | 46401025 | Missense_Mutation | G | T | p.E1048D |
| KYSE510_OESOPHAGUS | 46401019 | 46401118 | 46401045 | 46401045 | Missense_Mutation | C | T | p.A1055V |
| KYSE510_OESOPHAGUS | 46401004 | 46401118 | 46401045 | 46401045 | Missense_Mutation | C | T | p.A1055V |
| ESS1_ENDOMETRIUM | 46400007 | 46400050 | 46400021 | 46400021 | Nonsense_Mutation | G | T | p.E985* |
| KINGS1_CENTRAL_NERVOUS_SYSTEM | 46394167 | 46394227 | 46394167 | 46394167 | Splice_Site | G | A | p.A525A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DGKZ |
| 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 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | COAD | rs1317826 | chr11:46387868 | A/G | 6.64e-04 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | ESCA | rs1317826 | chr11:46387868 | A/G | 5.12e-04 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | KIRC | rs1317826 | chr11:46387868 | A/G | 2.45e-03 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | LUAD | rs1317826 | chr11:46387868 | A/G | 9.26e-04 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | LUSC | rs1317826 | chr11:46387868 | A/G | 5.88e-05 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | READ | rs1317826 | chr11:46387868 | A/G | 4.21e-04 |
| exon_skip_58691 | 11 | 46383144:46383256:46387793:46388076:46388840:46388949 | 46387793:46388076 | ENST00000525434.1 | THCA | rs1317826 | chr11:46387868 | A/G | 3.39e-03 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | COAD | rs1317826 | chr11:46387868 | A/G | 6.64e-04 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | ESCA | rs1317826 | chr11:46387868 | A/G | 5.12e-04 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | KIRC | rs1317826 | chr11:46387868 | A/G | 2.45e-03 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | LUAD | rs1317826 | chr11:46387868 | A/G | 9.26e-04 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | LUSC | rs1317826 | chr11:46387868 | A/G | 5.88e-05 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | READ | rs1317826 | chr11:46387868 | A/G | 4.21e-04 |
| exon_skip_58692 | 11 | 46383144:46383256:46387793:46388534:46388840:46388949 | 46387793:46388534 | ENST00000454345.1 | THCA | rs1317826 | chr11:46387868 | A/G | 3.39e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DGKZ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DGKZ |
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RelatedDrugs for DGKZ |
| 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 DGKZ |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DGKZ | C0027051 | Myocardial Infarction | 1 | CTD_human |
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