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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 PLD2 |
 Gene summary |
| Gene information | Gene symbol | PLD2 | Gene ID | 5338 |
| Gene name | phospholipase D2 | |
| Synonyms | PLD1C | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | phospholipase D2choline phosphatase 2phosphatidylcholine-hydrolyzing phospholipase D2 | |
| Modification date | 20180523 | |
| UniProtAcc | O14939 | |
| Context | PubMed: PLD2 [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 PLD2 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 PLD2 |
| 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 PLD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148067 | 17 | 4711066:4711176:4711278:4711409:4711568:4711711 | 4711278:4711409 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000575316.1,ENST00000575246.2 |
| exon_skip_148073 | 17 | 4711568:4711711:4712394:4712500:4712592:4712620 | 4712394:4712500 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000575316.1 |
| exon_skip_148074 | 17 | 4712985:4713078:4713171:4713324:4714096:4714246 | 4713171:4713324 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000575246.2 |
| exon_skip_148082 | 17 | 4713171:4713324:4714096:4714246:4717712:4717796 | 4714096:4714246 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000575246.2 |
| exon_skip_148084 | 17 | 4720347:4720350:4720440:4720554:4721296:4721401 | 4720440:4720554 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000575246.2 |
| exon_skip_148085 | 17 | 4720440:4720554:4721296:4721401:4721591:4721680 | 4721296:4721401 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6 |
| exon_skip_148093 | 17 | 4721591:4721680:4721788:4721902:4722068:4722118 | 4721788:4721902 | ENSG00000129219.9 | ENST00000572940.1,ENST00000263088.6,ENST00000571273.1,ENST00000576983.1 |
| exon_skip_148097 | 17 | 4722378:4722513:4722723:4722844:4725087:4725202 | 4722723:4722844 | ENSG00000129219.9 | ENST00000572940.1 |
| exon_skip_148098 | 17 | 4722378:4722513:4722723:4722877:4725087:4725202 | 4722723:4722877 | ENSG00000129219.9 | ENST00000263088.6,ENST00000576864.1 |
| exon_skip_148099 | 17 | 4722723:4722877:4725087:4725202:4725934:4726015 | 4725087:4725202 | ENSG00000129219.9 | ENST00000263088.6,ENST00000576864.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148067 | 17 | 4711066:4711176:4711278:4711409:4711568:4711711 | 4711278:4711409 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000575246.2,ENST00000575316.1 |
| exon_skip_148073 | 17 | 4711568:4711711:4712394:4712500:4712592:4712620 | 4712394:4712500 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000575316.1 |
| exon_skip_148074 | 17 | 4712985:4713078:4713171:4713324:4714096:4714246 | 4713171:4713324 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000575246.2 |
| exon_skip_148082 | 17 | 4713171:4713324:4714096:4714246:4717712:4717796 | 4714096:4714246 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000575246.2 |
| exon_skip_148084 | 17 | 4720347:4720350:4720440:4720554:4721296:4721401 | 4720440:4720554 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000575246.2 |
| exon_skip_148085 | 17 | 4720440:4720554:4721296:4721401:4721591:4721680 | 4721296:4721401 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1 |
| exon_skip_148093 | 17 | 4721591:4721680:4721788:4721902:4722068:4722118 | 4721788:4721902 | ENSG00000129219.9 | ENST00000263088.6,ENST00000572940.1,ENST00000576983.1,ENST00000571273.1 |
| exon_skip_148097 | 17 | 4722378:4722513:4722723:4722844:4725087:4725202 | 4722723:4722844 | ENSG00000129219.9 | ENST00000572940.1 |
| exon_skip_148098 | 17 | 4722378:4722513:4722723:4722877:4725087:4725202 | 4722723:4722877 | ENSG00000129219.9 | ENST00000263088.6,ENST00000576864.1 |
| exon_skip_148099 | 17 | 4722723:4722877:4725087:4725202:4725934:4726015 | 4725087:4725202 | ENSG00000129219.9 | ENST00000263088.6,ENST00000576864.1 |
| 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 PLD2 |
| 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 |
| ENST00000263088 | 4711278 | 4711409 | Frame-shift |
| ENST00000263088 | 4712394 | 4712500 | Frame-shift |
| ENST00000263088 | 4722723 | 4722877 | Frame-shift |
| ENST00000263088 | 4725087 | 4725202 | Frame-shift |
| ENST00000263088 | 4713171 | 4713324 | In-frame |
| ENST00000263088 | 4714096 | 4714246 | In-frame |
| ENST00000263088 | 4720440 | 4720554 | In-frame |
| ENST00000263088 | 4721296 | 4721401 | In-frame |
| ENST00000263088 | 4721788 | 4721902 | 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 |
| ENST00000263088 | 4711278 | 4711409 | Frame-shift |
| ENST00000263088 | 4712394 | 4712500 | Frame-shift |
| ENST00000263088 | 4722723 | 4722877 | Frame-shift |
| ENST00000263088 | 4725087 | 4725202 | Frame-shift |
| ENST00000263088 | 4713171 | 4713324 | In-frame |
| ENST00000263088 | 4714096 | 4714246 | In-frame |
| ENST00000263088 | 4720440 | 4720554 | In-frame |
| ENST00000263088 | 4721296 | 4721401 | In-frame |
| ENST00000263088 | 4721788 | 4721902 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLD2 |
| 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 |
| ENST00000263088 | 3520 | 933 | 4713171 | 4713324 | 839 | 991 | 236 | 286 |
| ENST00000263088 | 3520 | 933 | 4714096 | 4714246 | 992 | 1141 | 287 | 336 |
| ENST00000263088 | 3520 | 933 | 4720440 | 4720554 | 1833 | 1946 | 567 | 605 |
| ENST00000263088 | 3520 | 933 | 4721296 | 4721401 | 1947 | 2051 | 605 | 640 |
| ENST00000263088 | 3520 | 933 | 4721788 | 4721902 | 2141 | 2254 | 670 | 707 |
| 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 |
| ENST00000263088 | 3520 | 933 | 4713171 | 4713324 | 839 | 991 | 236 | 286 |
| ENST00000263088 | 3520 | 933 | 4714096 | 4714246 | 992 | 1141 | 287 | 336 |
| ENST00000263088 | 3520 | 933 | 4720440 | 4720554 | 1833 | 1946 | 567 | 605 |
| ENST00000263088 | 3520 | 933 | 4721296 | 4721401 | 1947 | 2051 | 605 | 640 |
| ENST00000263088 | 3520 | 933 | 4721788 | 4721902 | 2141 | 2254 | 670 | 707 |
| 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 |
| O14939 | 236 | 286 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 236 | 286 | 203 | 311 | Domain | Note=PH |
| O14939 | 236 | 286 | 268 | 268 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14939 | 287 | 336 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 287 | 336 | 203 | 311 | Domain | Note=PH |
| O14939 | 287 | 336 | 325 | 325 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14939 | 567 | 605 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 567 | 605 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 567 | 605 | 577 | 577 | Natural variant | ID=VAR_051705;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:9582313;Dbxref=dbSNP:rs1052748,PMID:15489334,PMID:9582313 |
| O14939 | 567 | 605 | 441 | 788 | Region | Note=Catalytic |
| O14939 | 605 | 640 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 605 | 640 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 605 | 640 | 632 | 632 | Natural variant | ID=VAR_061750;Note=E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs17854914,PMID:15489334 |
| O14939 | 605 | 640 | 441 | 788 | Region | Note=Catalytic |
| O14939 | 670 | 707 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 670 | 707 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 670 | 707 | 441 | 788 | 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 |
| O14939 | 236 | 286 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 236 | 286 | 203 | 311 | Domain | Note=PH |
| O14939 | 236 | 286 | 268 | 268 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14939 | 287 | 336 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 287 | 336 | 203 | 311 | Domain | Note=PH |
| O14939 | 287 | 336 | 325 | 325 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O14939 | 567 | 605 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 567 | 605 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 567 | 605 | 577 | 577 | Natural variant | ID=VAR_051705;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:9582313;Dbxref=dbSNP:rs1052748,PMID:15489334,PMID:9582313 |
| O14939 | 567 | 605 | 441 | 788 | Region | Note=Catalytic |
| O14939 | 605 | 640 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 605 | 640 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 605 | 640 | 632 | 632 | Natural variant | ID=VAR_061750;Note=E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.3;Dbxref=dbSNP:rs17854914,PMID:15489334 |
| O14939 | 605 | 640 | 441 | 788 | Region | Note=Catalytic |
| O14939 | 670 | 707 | 337 | 933 | Alternative sequence | ID=VSP_005027;Note=In isoform PLD2C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9761774;Dbxref=PMID:9761774 |
| O14939 | 670 | 707 | 1 | 933 | Chain | ID=PRO_0000218805;Note=Phospholipase D2 |
| O14939 | 670 | 707 | 441 | 788 | Region | Note=Catalytic |
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SNVs in the skipped exons for PLD2 |
| - 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_148093 | 4721789 | 4721902 | 4721818 | 4721818 | Frame_Shift_Del | T | - | p.L681fs |
| BLCA | TCGA-GV-A40G-01 | exon_skip_148093 | 4721789 | 4721902 | 4721806 | 4721807 | Frame_Shift_Ins | - | A | p.R676fs |
| BLCA | TCGA-GV-A40G-01 | exon_skip_148093 | 4721789 | 4721902 | 4721806 | 4721807 | Frame_Shift_Ins | - | A | p.V677fs |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_148073 | 4712395 | 4712500 | 4712420 | 4712420 | Nonsense_Mutation | C | T | p.R137* |
| UCEC | TCGA-AP-A059-01 | exon_skip_148099 | 4725088 | 4725202 | 4725128 | 4725128 | Nonsense_Mutation | C | T | p.R835* |
| THYM | TCGA-4X-A9FB-01 | exon_skip_148067 | 4711279 | 4711409 | 4711278 | 4711278 | Splice_Site | G | 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 4711279 | 4711409 | 4711366 | 4711366 | Missense_Mutation | C | T | p.T66I |
| SNU81_LARGE_INTESTINE | 4711279 | 4711409 | 4711386 | 4711386 | Missense_Mutation | G | A | p.E73K |
| SNU1040_LARGE_INTESTINE | 4711279 | 4711409 | 4711395 | 4711395 | Missense_Mutation | A | G | p.T76A |
| NCIH1155_LUNG | 4712395 | 4712500 | 4712430 | 4712430 | Missense_Mutation | G | A | p.G140D |
| DU4475_BREAST | 4712395 | 4712500 | 4712457 | 4712457 | Missense_Mutation | G | A | p.R149Q |
| SNU1040_LARGE_INTESTINE | 4713172 | 4713324 | 4713204 | 4713204 | Missense_Mutation | A | G | p.Y247C |
| CW2_LARGE_INTESTINE | 4713172 | 4713324 | 4713293 | 4713293 | Missense_Mutation | C | T | p.R277W |
| HEC1A_ENDOMETRIUM | 4713172 | 4713324 | 4713305 | 4713305 | Missense_Mutation | C | T | p.R281W |
| HEC1_ENDOMETRIUM | 4713172 | 4713324 | 4713305 | 4713305 | Missense_Mutation | C | T | p.R281W |
| HEC1B_ENDOMETRIUM | 4713172 | 4713324 | 4713305 | 4713305 | Missense_Mutation | C | T | p.R281W |
| CW2_LARGE_INTESTINE | 4714097 | 4714246 | 4714117 | 4714117 | Missense_Mutation | G | A | p.S294N |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 4714097 | 4714246 | 4714170 | 4714170 | Missense_Mutation | G | T | p.G312C |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 4714097 | 4714246 | 4714228 | 4714228 | Missense_Mutation | C | T | p.P331L |
| HEC108_ENDOMETRIUM | 4714097 | 4714246 | 4714243 | 4714243 | Missense_Mutation | G | A | p.R336Q |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4721789 | 4721902 | 4721857 | 4721857 | Missense_Mutation | C | T | p.T693M |
| NCCIT_TESTIS | 4721789 | 4721902 | 4721890 | 4721890 | Missense_Mutation | A | G | p.H704R |
| M14_SKIN | 4722724 | 4722844 | 4722778 | 4722778 | Missense_Mutation | C | T | p.A788V |
| M14_SKIN | 4722724 | 4722877 | 4722778 | 4722778 | Missense_Mutation | C | T | p.A788V |
| MDAMB435S_SKIN | 4722724 | 4722844 | 4722778 | 4722778 | Missense_Mutation | C | T | p.A788V |
| MDAMB435S_SKIN | 4722724 | 4722877 | 4722778 | 4722778 | Missense_Mutation | C | T | p.A788V |
| NCIH630_LARGE_INTESTINE | 4722724 | 4722877 | 4722861 | 4722861 | Missense_Mutation | C | T | p.R816W |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4725088 | 4725202 | 4725095 | 4725095 | Missense_Mutation | C | A | p.L824I |
| BB49EBV_MATCHED_NORMAL_TISSUE | 4725088 | 4725202 | 4725111 | 4725111 | Missense_Mutation | G | C | p.R829P |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 4725088 | 4725202 | 4725111 | 4725111 | Missense_Mutation | G | C | p.R829P |
| MFE296_ENDOMETRIUM | 4712395 | 4712500 | 4712420 | 4712420 | Nonsense_Mutation | C | T | p.R137* |
| KMRC1_KIDNEY | 4713172 | 4713324 | 4713266 | 4713266 | Nonsense_Mutation | C | T | p.Q268* |
| MCF7_BREAST | 4720441 | 4720554 | 4720479 | 4720479 | Nonsense_Mutation | C | A | p.Y580* |
| KPL1_BREAST | 4720441 | 4720554 | 4720479 | 4720479 | Nonsense_Mutation | C | A | p.Y580* |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4721297 | 4721401 | 4721303 | 4721303 | Nonsense_Mutation | C | T | p.R608* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLD2 |
| 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_148073 | 17 | 4711568:4711711:4712394:4712500:4712592:4712620 | 4712394:4712500 | ENST00000572940.1,ENST00000263088.6,ENST00000575316.1 | BRCA | rs1132446 | chr17:4712395 | A/T | 1.42e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD2 |
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RelatedDrugs for PLD2 |
| 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 |
| O14939 | DB14006 | Choline salicylate | Phospholipase D2 | small molecule | approved|nutraceutical |
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RelatedDiseases for PLD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLD2 | C0018800 | Cardiomegaly | 1 | CTD_human |
| PLD2 | C0029342 | Orthomyxoviridae Infections | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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