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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 PLD1 |
 Gene summary |
| Gene information | Gene symbol | PLD1 | Gene ID | 5337 |
| Gene name | phospholipase D1 | |
| Synonyms | CVDD | |
| Cytomap | 3q26.31 | |
| Type of gene | protein-coding | |
| Description | phospholipase D1choline phosphatase 1phosphatidylcholine-hydrolyzing phospholipase D1phospholipase D1, phosphatidylcholine-specific | |
| Modification date | 20180523 | |
| UniProtAcc | Q13393 | |
| Context | PubMed: PLD1 [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 |
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Exon skipping events across known transcript of Ensembl for PLD1 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 PLD1 |
| 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 PLD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390036 | 3 | 171318619:171321092:171323088:171323206:171330068:171330222 | 171323088:171323206 | ENSG00000075651.11 | ENST00000351298.4,ENST00000356327.5,ENST00000342215.6 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 |
| exon_skip_390042 | 3 | 171392289:171392403:171394504:171394623:171395355:171395484 | 171394504:171394623 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000356327.5,ENST00000342215.6,ENST00000471075.1 |
| exon_skip_390043 | 3 | 171395355:171395484:171404474:171404588:171405160:171405374 | 171404474:171404588 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4 |
| exon_skip_390044 | 3 | 171395355:171395484:171405160:171405374:171406465:171406666 | 171405160:171405374 | ENSG00000075651.11 | ENST00000356327.5 |
| exon_skip_390046 | 3 | 171395355:171395484:171406465:171406666:171410121:171410232 | 171406465:171406666 | ENSG00000075651.11 | ENST00000342215.6 |
| exon_skip_390048 | 3 | 171405160:171405374:171406465:171406666:171410121:171410232 | 171406465:171406666 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000356327.5 |
| exon_skip_390050 | 3 | 171410121:171410232:171417534:171417616:171426544:171426628 | 171417534:171417616 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000356327.5,ENST00000481505.1,ENST00000342215.6 |
| exon_skip_390051 | 3 | 171427349:171427499:171431682:171431835:171442485:171442578 | 171431682:171431835 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000356327.5,ENST00000342215.6 |
| exon_skip_390052 | 3 | 171443807:171443866:171451233:171451299:171452654:171452760 | 171451233:171451299 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000475273.2,ENST00000356327.5,ENST00000440204.1,ENST00000342215.6,ENST00000498278.1 |
| exon_skip_390054 | 3 | 171452654:171452760:171453281:171453427:171455321:171455449 | 171453281:171453427 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000475273.2,ENST00000356327.5,ENST00000342215.6,ENST00000498278.1 |
| exon_skip_390055 | 3 | 171453281:171453427:171455321:171455449:171455681:171455872 | 171455321:171455449 | ENSG00000075651.11 | ENST00000340989.4,ENST00000351298.4,ENST00000418087.1,ENST00000475273.2,ENST00000356327.5,ENST00000342215.6,ENST00000498278.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390036 | 3 | 171318619:171321092:171323088:171323206:171330068:171330222 | 171323088:171323206 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000446289.1,ENST00000340989.4,ENST00000465816.2,ENST00000467432.1 |
| exon_skip_390042 | 3 | 171392289:171392403:171394504:171394623:171395355:171395484 | 171394504:171394623 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4,ENST00000471075.1 |
| exon_skip_390043 | 3 | 171395355:171395484:171404474:171404588:171405160:171405374 | 171404474:171404588 | ENSG00000075651.11 | ENST00000351298.4,ENST00000340989.4 |
| exon_skip_390044 | 3 | 171395355:171395484:171405160:171405374:171406465:171406666 | 171405160:171405374 | ENSG00000075651.11 | ENST00000356327.5 |
| exon_skip_390046 | 3 | 171395355:171395484:171406465:171406666:171410121:171410232 | 171406465:171406666 | ENSG00000075651.11 | ENST00000342215.6 |
| exon_skip_390048 | 3 | 171405160:171405374:171406465:171406666:171410121:171410232 | 171406465:171406666 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000340989.4 |
| exon_skip_390050 | 3 | 171410121:171410232:171417534:171417616:171426544:171426628 | 171417534:171417616 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4,ENST00000481505.1 |
| exon_skip_390051 | 3 | 171427349:171427499:171431682:171431835:171442485:171442578 | 171431682:171431835 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4 |
| exon_skip_390052 | 3 | 171443807:171443866:171451233:171451299:171452654:171452760 | 171451233:171451299 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4,ENST00000498278.1,ENST00000475273.2,ENST00000440204.1 |
| exon_skip_390054 | 3 | 171452654:171452760:171453281:171453427:171455321:171455449 | 171453281:171453427 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4,ENST00000498278.1,ENST00000475273.2 |
| exon_skip_390055 | 3 | 171453281:171453427:171455321:171455449:171455681:171455872 | 171455321:171455449 | ENSG00000075651.11 | ENST00000356327.5,ENST00000351298.4,ENST00000342215.6,ENST00000340989.4,ENST00000498278.1,ENST00000475273.2,ENST00000418087.1 |
| 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 PLD1 |
| 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 |
| ENST00000351298 | 171323088 | 171323206 | Frame-shift |
| ENST00000351298 | 171394504 | 171394623 | Frame-shift |
| ENST00000351298 | 171417534 | 171417616 | Frame-shift |
| ENST00000351298 | 171453281 | 171453427 | Frame-shift |
| ENST00000351298 | 171455321 | 171455449 | Frame-shift |
| ENST00000351298 | 171338175 | 171338310 | In-frame |
| ENST00000351298 | 171404474 | 171404588 | In-frame |
| ENST00000351298 | 171406465 | 171406666 | In-frame |
| ENST00000351298 | 171431682 | 171431835 | In-frame |
| ENST00000351298 | 171451233 | 171451299 | 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 |
| ENST00000351298 | 171323088 | 171323206 | Frame-shift |
| ENST00000351298 | 171394504 | 171394623 | Frame-shift |
| ENST00000351298 | 171417534 | 171417616 | Frame-shift |
| ENST00000351298 | 171453281 | 171453427 | Frame-shift |
| ENST00000351298 | 171455321 | 171455449 | Frame-shift |
| ENST00000351298 | 171338175 | 171338310 | In-frame |
| ENST00000351298 | 171404474 | 171404588 | In-frame |
| ENST00000351298 | 171406465 | 171406666 | In-frame |
| ENST00000351298 | 171431682 | 171431835 | In-frame |
| ENST00000351298 | 171451233 | 171451299 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLD1 |
| 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 |
| ENST00000351298 | 5621 | 1074 | 171451233 | 171451299 | 668 | 733 | 180 | 202 |
| ENST00000351298 | 5621 | 1074 | 171431682 | 171431835 | 886 | 1038 | 253 | 303 |
| ENST00000351298 | 5621 | 1074 | 171406465 | 171406666 | 1466 | 1666 | 446 | 513 |
| ENST00000351298 | 5621 | 1074 | 171404474 | 171404588 | 1881 | 1994 | 584 | 622 |
| ENST00000351298 | 5621 | 1074 | 171338175 | 171338310 | 2721 | 2855 | 864 | 909 |
| 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 |
| ENST00000351298 | 5621 | 1074 | 171451233 | 171451299 | 668 | 733 | 180 | 202 |
| ENST00000351298 | 5621 | 1074 | 171431682 | 171431835 | 886 | 1038 | 253 | 303 |
| ENST00000351298 | 5621 | 1074 | 171406465 | 171406666 | 1466 | 1666 | 446 | 513 |
| ENST00000351298 | 5621 | 1074 | 171404474 | 171404588 | 1881 | 1994 | 584 | 622 |
| ENST00000351298 | 5621 | 1074 | 171338175 | 171338310 | 2721 | 2855 | 864 | 909 |
| 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 |
| Q13393 | 180 | 202 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 180 | 202 | 81 | 212 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
| Q13393 | 253 | 303 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 253 | 303 | 219 | 328 | Domain | Note=PH |
| Q13393 | 446 | 513 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 446 | 513 | 459 | 486 | Domain | Note=PLD phosphodiesterase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00153 |
| Q13393 | 446 | 513 | 499 | 499 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P70496 |
| Q13393 | 446 | 513 | 463 | 928 | Region | Note=Catalytic |
| Q13393 | 584 | 622 | 514 | 597 | Alternative sequence | ID=VSP_005018;Note=In isoform PLD1C. PAAMESMESLRLKDKNEPVQNLPIQKSIDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLI->IPGPSVVYRQVWESCMGKPDSGMERTTAISSSKTGFNLINLLLISLTGTPRPGCPGMTLPLQSTGRRLVMWHVTSSSAGTSQKL;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q13393 | 584 | 622 | 585 | 623 | Alternative sequence | ID=VSP_005020;Note=In isoform PLD1B. SYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9013646,ECO:0000303|PubMed:9761774;Dbxref=PMID:9013646,PMID:9761774 |
| Q13393 | 584 | 622 | 598 | 1074 | Alternative sequence | ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| Q13393 | 584 | 622 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 584 | 622 | 622 | 622 | Natural variant | ID=VAR_022056;Note=A->S;Dbxref=dbSNP:rs2290480 |
| Q13393 | 584 | 622 | 463 | 928 | Region | Note=Catalytic |
| Q13393 | 864 | 909 | 598 | 1074 | Alternative sequence | ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| Q13393 | 864 | 909 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 864 | 909 | 891 | 918 | Domain | Note=PLD phosphodiesterase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00153 |
| Q13393 | 864 | 909 | 463 | 928 | Region | Note=Catalytic |
| 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 |
| Q13393 | 180 | 202 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 180 | 202 | 81 | 212 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
| Q13393 | 253 | 303 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 253 | 303 | 219 | 328 | Domain | Note=PH |
| Q13393 | 446 | 513 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 446 | 513 | 459 | 486 | Domain | Note=PLD phosphodiesterase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00153 |
| Q13393 | 446 | 513 | 499 | 499 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P70496 |
| Q13393 | 446 | 513 | 463 | 928 | Region | Note=Catalytic |
| Q13393 | 584 | 622 | 514 | 597 | Alternative sequence | ID=VSP_005018;Note=In isoform PLD1C. PAAMESMESLRLKDKNEPVQNLPIQKSIDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLI->IPGPSVVYRQVWESCMGKPDSGMERTTAISSSKTGFNLINLLLISLTGTPRPGCPGMTLPLQSTGRRLVMWHVTSSSAGTSQKL;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q13393 | 584 | 622 | 585 | 623 | Alternative sequence | ID=VSP_005020;Note=In isoform PLD1B. SYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9013646,ECO:0000303|PubMed:9761774;Dbxref=PMID:9013646,PMID:9761774 |
| Q13393 | 584 | 622 | 598 | 1074 | Alternative sequence | ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| Q13393 | 584 | 622 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 584 | 622 | 622 | 622 | Natural variant | ID=VAR_022056;Note=A->S;Dbxref=dbSNP:rs2290480 |
| Q13393 | 584 | 622 | 463 | 928 | Region | Note=Catalytic |
| Q13393 | 864 | 909 | 598 | 1074 | Alternative sequence | ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| Q13393 | 864 | 909 | 1 | 1074 | Chain | ID=PRO_0000218802;Note=Phospholipase D1 |
| Q13393 | 864 | 909 | 891 | 918 | Domain | Note=PLD phosphodiesterase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00153 |
| Q13393 | 864 | 909 | 463 | 928 | Region | Note=Catalytic |
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SNVs in the skipped exons for PLD1 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_390042 | 171394505 | 171394623 | 171394597 | 171394597 | Frame_Shift_Del | G | - | p.R637fs |
| BLCA | TCGA-GV-A3QF-01 | exon_skip_390043 | 171404475 | 171404588 | 171404550 | 171404550 | Frame_Shift_Del | G | - | p.H598fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_390044 | 171405161 | 171405374 | 171405328 | 171405328 | Frame_Shift_Del | T | - | p.N529fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_390044 | 171405161 | 171405374 | 171405328 | 171405328 | Frame_Shift_Del | T | - | p.N529fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_390046 exon_skip_390048 | 171406466 | 171406666 | 171406568 | 171406568 | Frame_Shift_Del | C | - | p.G479fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_390052 | 171451234 | 171451299 | 171451258 | 171451258 | Frame_Shift_Del | G | - | p.P194fs |
| STAD | TCGA-BR-8361-01 | exon_skip_390052 | 171451234 | 171451299 | 171451263 | 171451263 | Frame_Shift_Del | T | - | p.M193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_390055 | 171455322 | 171455449 | 171455364 | 171455364 | Frame_Shift_Del | T | - | p.K82fs |
| LUAD | TCGA-55-6975-01 | exon_skip_390050 | 171417535 | 171417616 | 171417564 | 171417565 | Frame_Shift_Ins | - | C | p.V400fs |
| HNSC | TCGA-MT-A67D-01 | exon_skip_390038 | 171338176 | 171338310 | 171338283 | 171338283 | Nonsense_Mutation | G | T | p.S836* |
| UCEC | TCGA-D1-A167-01 | exon_skip_390042 | 171394505 | 171394623 | 171394540 | 171394540 | Nonsense_Mutation | C | T | p.W584* |
| KIRC | TCGA-A3-3374-01 | exon_skip_390042 | 171394505 | 171394623 | 171394541 | 171394541 | Nonsense_Mutation | C | T | p.W584* |
| BLCA | TCGA-ZF-AA4N-01 | exon_skip_390044 | 171405161 | 171405374 | 171405266 | 171405266 | Nonsense_Mutation | C | A | p.G550* |
| LGG | TCGA-DU-6392-01 | exon_skip_390050 | 171417535 | 171417616 | 171417543 | 171417543 | Nonsense_Mutation | G | A | p.R407* |
| HNSC | TCGA-CV-6962-01 | exon_skip_390051 | 171431683 | 171431835 | 171431702 | 171431702 | Nonsense_Mutation | G | A | p.R298* |
| STAD | TCGA-FP-8211-01 | exon_skip_390052 | 171451234 | 171451299 | 171451290 | 171451290 | Nonsense_Mutation | C | A | p.E184X |
| STAD | TCGA-FP-8211-01 | exon_skip_390052 | 171451234 | 171451299 | 171451290 | 171451291 | Nonsense_Mutation | CC | AA | p.E184* |
| ESCA | TCGA-JY-A6FB-01 | exon_skip_390054 | 171453282 | 171453427 | 171453400 | 171453400 | Nonsense_Mutation | C | A | p.E106* |
| ESCA | TCGA-JY-A6FB-01 | exon_skip_390054 | 171453282 | 171453427 | 171453400 | 171453400 | Nonsense_Mutation | C | A | p.E106X |
| CHOL | TCGA-W5-AA39-01 | exon_skip_390042 | 171394505 | 171394623 | 171394504 | 171394504 | Splice_Site | C | T | . |
| LUSC | TCGA-66-2795-01 | exon_skip_390046 exon_skip_390048 | 171406466 | 171406666 | 171406667 | 171406667 | Splice_Site | C | G | p.V447_splice |
| READ | TCGA-F5-6814-01 | exon_skip_390052 | 171451234 | 171451299 | 171451300 | 171451300 | Splice_Site | C | A | . |
| ESCA | TCGA-R6-A8WC-01 | exon_skip_390055 | 171455322 | 171455449 | 171455451 | 171455452 | Splice_Site | - | A | e2-2 |
| ESCA | TCGA-S8-A6BV-01 | exon_skip_390055 | 171455322 | 171455449 | 171455451 | 171455452 | Splice_Site | - | A | e2-2 |
| SARC | TCGA-DX-A8BT-01 | exon_skip_390055 | 171455322 | 171455449 | 171455451 | 171455452 | Splice_Site | - | A | e2-2 |
| - 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 |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 171323089 | 171323206 | 171323127 | 171323127 | Frame_Shift_Del | C | - | p.V988fs |
| PEDS015T_SOFT_TISSUE | 171406466 | 171406666 | 171406568 | 171406568 | Frame_Shift_Del | C | - | p.G479fs |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 171455322 | 171455449 | 171455436 | 171455436 | Frame_Shift_Del | G | - | p.F58fs |
| HUCCT1_BILIARY_TRACT | 171406466 | 171406666 | 171406579 | 171406587 | In_Frame_Del | AGGCCACCG | - | p.SVA473del |
| SNUC5_LARGE_INTESTINE | 171338176 | 171338310 | 171338188 | 171338188 | Missense_Mutation | T | A | p.T906S |
| SNU1040_LARGE_INTESTINE | 171338176 | 171338310 | 171338214 | 171338214 | Missense_Mutation | C | T | p.S897N |
| SNU1040_LARGE_INTESTINE | 171394505 | 171394623 | 171394522 | 171394522 | Missense_Mutation | G | A | p.R700C |
| RKO_LARGE_INTESTINE | 171394505 | 171394623 | 171394600 | 171394600 | Missense_Mutation | G | A | p.P674S |
| LU99_LUNG | 171404475 | 171404588 | 171404556 | 171404556 | Missense_Mutation | A | C | p.L596V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 171405161 | 171405374 | 171405199 | 171405199 | Missense_Mutation | T | C | p.H572R |
| 451LU_SKIN | 171406466 | 171406666 | 171406587 | 171406587 | Missense_Mutation | G | A | p.S473L |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 171406466 | 171406666 | 171406593 | 171406593 | Missense_Mutation | T | C | p.D471G |
| MRKNU1_BREAST | 171406466 | 171406666 | 171406629 | 171406629 | Missense_Mutation | T | C | p.Y459C |
| BT474_BREAST | 171417535 | 171417616 | 171417549 | 171417549 | Missense_Mutation | G | A | p.L405F |
| SNU1040_LARGE_INTESTINE | 171417535 | 171417616 | 171417590 | 171417590 | Missense_Mutation | C | T | p.R391H |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 171417535 | 171417616 | 171417597 | 171417597 | Missense_Mutation | G | C | p.L389V |
| SARC9371_BONE | 171431683 | 171431835 | 171431761 | 171431761 | Missense_Mutation | A | G | p.V278A |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 171431683 | 171431835 | 171431786 | 171431786 | Missense_Mutation | C | T | p.G270S |
| NCIH630_LARGE_INTESTINE | 171451234 | 171451299 | 171451238 | 171451238 | Missense_Mutation | G | T | p.A201D |
| NCIH1563_LUNG | 171451234 | 171451299 | 171451242 | 171451242 | Missense_Mutation | G | C | p.H200D |
| HCT116_LARGE_INTESTINE | 171451234 | 171451299 | 171451271 | 171451271 | Missense_Mutation | A | G | p.I190T |
| NCIH2887_LUNG | 171453282 | 171453427 | 171453360 | 171453360 | Missense_Mutation | T | A | p.K119I |
| M1203273_SKIN | 171323089 | 171323206 | 171323112 | 171323112 | Nonsense_Mutation | G | A | p.R993* |
| TE9_OESOPHAGUS | 171338176 | 171338310 | 171338283 | 171338283 | Nonsense_Mutation | G | C | p.S874* |
| D245MG_CENTRAL_NERVOUS_SYSTEM | 171406466 | 171406666 | 171406587 | 171406587 | Nonsense_Mutation | G | T | p.S473* |
| HT115_LARGE_INTESTINE | 171431683 | 171431835 | 171431753 | 171431753 | Nonsense_Mutation | C | A | p.E281* |
| HCC2998_LARGE_INTESTINE | 171453282 | 171453427 | 171453385 | 171453385 | Nonsense_Mutation | C | A | p.E111* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLD1 |
| 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_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | ESCA | rs9881788 | chr3:171338237 | G/T | 6.02e-04 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | HNSC | rs9881788 | chr3:171338237 | G/T | 7.66e-05 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | HNSC | rs9881788 | chr3:171338237 | G/T | 8.10e-04 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | HNSC | rs9881788 | chr3:171338237 | G/T | 1.13e-03 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | HNSC | rs9881788 | chr3:171338237 | G/T | 1.14e-03 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | LUSC | rs9881788 | chr3:171338237 | G/T | 4.27e-05 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | PAAD | rs9881788 | chr3:171338237 | G/T | 8.73e-04 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | PAAD | rs9881788 | chr3:171338237 | G/T | 8.73e-04 |
| exon_skip_390038 | 3 | 171330096:171330222:171338175:171338310:171360629:171360679 | 171338175:171338310 | ENST00000340989.4,ENST00000351298.4,ENST00000465816.2,ENST00000467432.1,ENST00000356327.5,ENST00000342215.6,ENST00000446289.1 | STAD | rs9881788 | chr3:171338237 | G/T | 4.45e-04 |
| exon_skip_390043 | 3 | 171395355:171395484:171404474:171404588:171405160:171405374 | 171404474:171404588 | ENST00000340989.4,ENST00000351298.4 | HNSC | rs2290480 | chr3:171404478 | A/C | 2.65e-06 |
| exon_skip_390043 | 3 | 171395355:171395484:171404474:171404588:171405160:171405374 | 171404474:171404588 | ENST00000340989.4,ENST00000351298.4 | HNSC | rs2290480 | chr3:171404478 | A/C | 2.91e-06 |
| exon_skip_390043 | 3 | 171395355:171395484:171404474:171404588:171405160:171405374 | 171404474:171404588 | ENST00000340989.4,ENST00000351298.4 | HNSC | rs2290480 | chr3:171404478 | A/C | 1.32e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD1 |
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RelatedDrugs for PLD1 |
| 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 |
| Q13393 | DB14006 | Choline salicylate | Phospholipase D1 | small molecule | approved|nutraceutical |
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RelatedDiseases for PLD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLD1 | C0018800 | Cardiomegaly | 1 | CTD_human |
| PLD1 | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
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