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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 PLA2G4D |
 Gene summary |
| Gene information | Gene symbol | PLA2G4D | Gene ID | 283748 |
| Gene name | phospholipase A2 group IVD | |
| Synonyms | cPLA2delta | |
| Cytomap | 15q15.1 | |
| Type of gene | protein-coding | |
| Description | cytosolic phospholipase A2 deltacPLA2-deltaphospholipase A2 delta, cytosolicphospholipase A2, group IVD (cytosolic) | |
| Modification date | 20180523 | |
| UniProtAcc | Q86XP0 | |
| Context | PubMed: PLA2G4D [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 |
| PLA2G4D | GO:0046475 | glycerophospholipid catabolic process | 14709560 |
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Exon skipping events across known transcript of Ensembl for PLA2G4D 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 PLA2G4D |
| 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 PLA2G4D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126294 | 15 | 42359880:42361139:42362106:42362293:42362914:42363081 | 42362106:42362293 | ENSG00000159337.6 | ENST00000290472.3 |
| exon_skip_126297 | 15 | 42362914:42363081:42363320:42363515:42363641:42363749 | 42363320:42363515 | ENSG00000159337.6 | ENST00000560932.1,ENST00000290472.3 |
| exon_skip_126299 | 15 | 42373314:42373331:42373676:42373812:42373994:42374032 | 42373676:42373812 | ENSG00000159337.6 | ENST00000290472.3 |
| exon_skip_126301 | 15 | 42377688:42377729:42378410:42378542:42379497:42379634 | 42378410:42378542 | ENSG00000159337.6 | ENST00000290472.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLA2G4D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126294 | 15 | 42359880:42361139:42362106:42362293:42362914:42363081 | 42362106:42362293 | ENSG00000159337.6 | ENST00000290472.3 |
| exon_skip_126297 | 15 | 42362914:42363081:42363320:42363515:42363641:42363749 | 42363320:42363515 | ENSG00000159337.6 | ENST00000560932.1,ENST00000290472.3 |
| exon_skip_126299 | 15 | 42373314:42373331:42373676:42373812:42373994:42374032 | 42373676:42373812 | ENSG00000159337.6 | ENST00000290472.3 |
| exon_skip_126301 | 15 | 42377688:42377729:42378410:42378542:42379497:42379634 | 42378410:42378542 | ENSG00000159337.6 | ENST00000290472.3 |
| 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 PLA2G4D |
| 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 |
| ENST00000290472 | 42362106 | 42362293 | Frame-shift |
| ENST00000290472 | 42373676 | 42373812 | Frame-shift |
| ENST00000290472 | 42363320 | 42363515 | In-frame |
| ENST00000290472 | 42378410 | 42378542 | 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 |
| ENST00000290472 | 42362106 | 42362293 | Frame-shift |
| ENST00000290472 | 42373676 | 42373812 | Frame-shift |
| ENST00000290472 | 42363320 | 42363515 | In-frame |
| ENST00000290472 | 42378410 | 42378542 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLA2G4D |
| 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 |
| ENST00000290472 | 3601 | 818 | 42378410 | 42378542 | 351 | 482 | 85 | 129 |
| ENST00000290472 | 3601 | 818 | 42363320 | 42363515 | 1777 | 1971 | 560 | 625 |
| 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 |
| ENST00000290472 | 3601 | 818 | 42378410 | 42378542 | 351 | 482 | 85 | 129 |
| ENST00000290472 | 3601 | 818 | 42363320 | 42363515 | 1777 | 1971 | 560 | 625 |
| 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 |
| Q86XP0 | 85 | 129 | 87 | 94 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 97 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 102 | 110 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 120 | 124 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 1 | 818 | Chain | ID=PRO_0000247023;Note=Cytosolic phospholipase A2 delta |
| Q86XP0 | 85 | 129 | 9 | 120 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q86XP0 | 85 | 129 | 111 | 113 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 581 | 583 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 610 | 612 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 623 | 625 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 1 | 818 | Chain | ID=PRO_0000247023;Note=Cytosolic phospholipase A2 delta |
| Q86XP0 | 560 | 625 | 273 | 818 | Domain | Note=PLA2c;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00555 |
| Q86XP0 | 560 | 625 | 577 | 579 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IXC |
| Q86XP0 | 560 | 625 | 584 | 590 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 613 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 618 | 621 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 573 | 573 | Natural variant | ID=VAR_027049;Note=R->W;Dbxref=dbSNP:rs17747505 |
| Q86XP0 | 560 | 625 | 605 | 608 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| 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 |
| Q86XP0 | 85 | 129 | 87 | 94 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 97 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 102 | 110 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 120 | 124 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 85 | 129 | 1 | 818 | Chain | ID=PRO_0000247023;Note=Cytosolic phospholipase A2 delta |
| Q86XP0 | 85 | 129 | 9 | 120 | Domain | Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q86XP0 | 85 | 129 | 111 | 113 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 581 | 583 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 610 | 612 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 623 | 625 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 1 | 818 | Chain | ID=PRO_0000247023;Note=Cytosolic phospholipase A2 delta |
| Q86XP0 | 560 | 625 | 273 | 818 | Domain | Note=PLA2c;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00555 |
| Q86XP0 | 560 | 625 | 577 | 579 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IXC |
| Q86XP0 | 560 | 625 | 584 | 590 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 613 | 615 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 618 | 621 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
| Q86XP0 | 560 | 625 | 573 | 573 | Natural variant | ID=VAR_027049;Note=R->W;Dbxref=dbSNP:rs17747505 |
| Q86XP0 | 560 | 625 | 605 | 608 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IZ5 |
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SNVs in the skipped exons for PLA2G4D |
| - 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 |
| BRCA | TCGA-BH-A0BC-01 | exon_skip_126294 | 42362107 | 42362293 | 42362138 | 42362138 | Frame_Shift_Del | G | - | p.N734fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_126294 | 42362107 | 42362293 | 42362242 | 42362242 | Frame_Shift_Del | G | - | p.R699fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126294 | 42362107 | 42362293 | 42362255 | 42362255 | Frame_Shift_Del | C | - | p.G694fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_126299 | 42373677 | 42373812 | 42373810 | 42373810 | Frame_Shift_Del | G | - | p.P275fs |
| KICH | TCGA-KO-8409-01 | exon_skip_126294 | 42362107 | 42362293 | 42362217 | 42362218 | Frame_Shift_Ins | - | G | p.Q707fs |
| SKCM | TCGA-D3-A2JH-06 | exon_skip_126297 | 42363321 | 42363515 | 42363464 | 42363464 | Nonsense_Mutation | C | T | p.W578* |
| PAAD | TCGA-IB-7651-01 | exon_skip_126299 | 42373677 | 42373812 | 42373813 | 42373813 | Splice_Site | C | 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 |
| NCIH1573_LUNG | 42378411 | 42378542 | 42378494 | 42378494 | Frame_Shift_Del | C | - | p.D102fs |
| 22RV1_PROSTATE | 42362107 | 42362293 | 42362146 | 42362146 | Missense_Mutation | G | A | p.P731S |
| KYSE180_OESOPHAGUS | 42362107 | 42362293 | 42362146 | 42362146 | Missense_Mutation | G | A | p.P731S |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 42362107 | 42362293 | 42362170 | 42362170 | Missense_Mutation | C | T | p.E723K |
| TC106_BONE | 42362107 | 42362293 | 42362260 | 42362260 | Missense_Mutation | G | A | p.R693W |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42363321 | 42363515 | 42363351 | 42363351 | Missense_Mutation | A | G | p.C616R |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42363321 | 42363515 | 42363425 | 42363425 | Missense_Mutation | C | T | p.G591D |
| OC316_OVARY | 42363321 | 42363515 | 42363446 | 42363446 | Missense_Mutation | G | A | p.A584V |
| KYSE180_OESOPHAGUS | 42363321 | 42363515 | 42363446 | 42363446 | Missense_Mutation | G | A | p.A584V |
| OC314_OVARY | 42363321 | 42363515 | 42363446 | 42363446 | Missense_Mutation | G | A | p.A584V |
| SNU520_STOMACH | 42363321 | 42363515 | 42363449 | 42363449 | Missense_Mutation | G | A | p.T583M |
| JHH1_LIVER | 42363321 | 42363515 | 42363449 | 42363449 | Missense_Mutation | G | A | p.T583M |
| HPAC_PANCREAS | 42373677 | 42373812 | 42373746 | 42373746 | Missense_Mutation | C | G | p.R296S |
| DOV13_OVARY | 42373677 | 42373812 | 42373771 | 42373771 | Missense_Mutation | G | A | p.A288V |
| HS294T_SKIN | 42373677 | 42373812 | 42373771 | 42373771 | Missense_Mutation | G | A | p.A288V |
| KATOIII_STOMACH | 42373677 | 42373812 | 42373796 | 42373796 | Missense_Mutation | C | T | p.V280M |
| SUIT2_PANCREAS | 42378411 | 42378542 | 42378421 | 42378421 | Missense_Mutation | T | G | p.Q126P |
| SNU1040_LARGE_INTESTINE | 42373677 | 42373812 | 42373677 | 42373677 | Splice_Site | C | T | p.E319E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLA2G4D |
| 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 PLA2G4D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLA2G4D |
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RelatedDrugs for PLA2G4D |
| 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 PLA2G4D |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLA2G4D | C0036341 | Schizophrenia | 1 | PSYGENET |
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