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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 PLA2R1 |
 Gene summary |
| Gene information | Gene symbol | PLA2R1 | Gene ID | 22925 |
| Gene name | phospholipase A2 receptor 1 | |
| Synonyms | CLEC13C|PLA2-R|PLA2G1R|PLA2IR|PLA2R | |
| Cytomap | 2q24.2 | |
| Type of gene | protein-coding | |
| Description | secretory phospholipase A2 receptor180 kDa secretory phospholipase A2 receptorC-type lectin domain family 13 member CM-type receptorphospholipase A2 receptor 1, 180kDphospholipase A2 receptor 1, 180kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q13018 | |
| Context | PubMed: PLA2R1 [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 |
| PLA2R1 | GO:0072593 | reactive oxygen species metabolic process | 19197340 |
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Exon skipping events across known transcript of Ensembl for PLA2R1 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 PLA2R1 |
| 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 PLA2R1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344304 | 2 | 160788518:160788809:160798256:160798503:160798637:160798670 | 160798256:160798503 | ENSG00000153246.7 | ENST00000460710.1 |
| exon_skip_344321 | 2 | 160803311:160803428:160803929:160804070:160806118:160806287 | 160803929:160804070 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344325 | 2 | 160806118:160806287:160807850:160808089:160811709:160811857 | 160807850:160808089 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344326 | 2 | 160811709:160811857:160812208:160812339:160813020:160813138 | 160812208:160812339 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344329 | 2 | 160832578:160832736:160833195:160833231:160833794:160833908 | 160833195:160833231 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344333 | 2 | 160840438:160840584:160843666:160843869:160862162:160862332 | 160843666:160843869 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344337 | 2 | 160843666:160843869:160862162:160862332:160869773:160869886 | 160862162:160862332 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344339 | 2 | 160873124:160873223:160876616:160876774:160879175:160879370 | 160876616:160876774 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344340 | 2 | 160885360:160885474:160889469:160889643:160898535:160898709 | 160889469:160889643 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLA2R1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_344304 | 2 | 160788518:160788809:160798256:160798503:160798637:160798670 | 160798256:160798503 | ENSG00000153246.7 | ENST00000460710.1 |
| exon_skip_344321 | 2 | 160803311:160803428:160803929:160804070:160806118:160806287 | 160803929:160804070 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344325 | 2 | 160806118:160806287:160807850:160808089:160811709:160811857 | 160807850:160808089 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344326 | 2 | 160811709:160811857:160812208:160812339:160813020:160813138 | 160812208:160812339 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344329 | 2 | 160832578:160832736:160833195:160833231:160833794:160833908 | 160833195:160833231 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344333 | 2 | 160840438:160840584:160843666:160843869:160862162:160862332 | 160843666:160843869 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344337 | 2 | 160843666:160843869:160862162:160862332:160869773:160869886 | 160862162:160862332 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344339 | 2 | 160873124:160873223:160876616:160876774:160879175:160879370 | 160876616:160876774 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| exon_skip_344340 | 2 | 160885360:160885474:160889469:160889643:160898535:160898709 | 160889469:160889643 | ENSG00000153246.7 | ENST00000283243.7,ENST00000392771.1 |
| 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 PLA2R1 |
| 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 |
| ENST00000283243 | 160807850 | 160808089 | Frame-shift |
| ENST00000283243 | 160812208 | 160812339 | Frame-shift |
| ENST00000283243 | 160843666 | 160843869 | Frame-shift |
| ENST00000283243 | 160862162 | 160862332 | Frame-shift |
| ENST00000283243 | 160876616 | 160876774 | Frame-shift |
| ENST00000283243 | 160803929 | 160804070 | In-frame |
| ENST00000283243 | 160833195 | 160833231 | In-frame |
| ENST00000283243 | 160889469 | 160889643 | 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 |
| ENST00000283243 | 160807850 | 160808089 | Frame-shift |
| ENST00000283243 | 160812208 | 160812339 | Frame-shift |
| ENST00000283243 | 160843666 | 160843869 | Frame-shift |
| ENST00000283243 | 160862162 | 160862332 | Frame-shift |
| ENST00000283243 | 160876616 | 160876774 | Frame-shift |
| ENST00000283243 | 160803929 | 160804070 | In-frame |
| ENST00000283243 | 160833195 | 160833231 | In-frame |
| ENST00000283243 | 160889469 | 160889643 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLA2R1 |
| 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 |
| ENST00000283243 | 8543 | 1463 | 160889469 | 160889643 | 875 | 1048 | 222 | 280 |
| ENST00000283243 | 8543 | 1463 | 160833195 | 160833231 | 2609 | 2644 | 800 | 812 |
| ENST00000283243 | 8543 | 1463 | 160803929 | 160804070 | 3917 | 4057 | 1236 | 1283 |
| 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 |
| ENST00000283243 | 8543 | 1463 | 160889469 | 160889643 | 875 | 1048 | 222 | 280 |
| ENST00000283243 | 8543 | 1463 | 160833195 | 160833231 | 2609 | 2644 | 800 | 812 |
| ENST00000283243 | 8543 | 1463 | 160803929 | 160804070 | 3917 | 4057 | 1236 | 1283 |
| 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 |
| Q13018 | 222 | 280 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 222 | 280 | 260 | 354 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13018 | 222 | 280 | 238 | 355 | Domain | Note=C-type lectin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00040 |
| Q13018 | 222 | 280 | 279 | 279 | Natural variant | ID=VAR_037205;Note=I->V;Dbxref=dbSNP:rs965290 |
| Q13018 | 222 | 280 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13018 | 800 | 812 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 800 | 812 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13018 | 1236 | 1283 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 1236 | 1283 | 1280 | 1377 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13018 | 1236 | 1283 | 1257 | 1378 | Domain | Note=C-type lectin 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00040 |
| Q13018 | 1236 | 1283 | 1263 | 1263 | Sequence conflict | Note=S->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13018 | 1236 | 1283 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q13018 | 222 | 280 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 222 | 280 | 260 | 354 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13018 | 222 | 280 | 238 | 355 | Domain | Note=C-type lectin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00040 |
| Q13018 | 222 | 280 | 279 | 279 | Natural variant | ID=VAR_037205;Note=I->V;Dbxref=dbSNP:rs965290 |
| Q13018 | 222 | 280 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13018 | 800 | 812 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 800 | 812 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13018 | 1236 | 1283 | 21 | 1463 | Chain | ID=PRO_5000144349;Note=Secretory phospholipase A2 receptor |
| Q13018 | 1236 | 1283 | 1280 | 1377 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13018 | 1236 | 1283 | 1257 | 1378 | Domain | Note=C-type lectin 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00040 |
| Q13018 | 1236 | 1283 | 1263 | 1263 | Sequence conflict | Note=S->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13018 | 1236 | 1283 | 21 | 1397 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PLA2R1 |
| - 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. |
PLA2R1_HNSC_exon_skip_344329_psi_boxplot.png |
| - 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_344325 | 160807851 | 160808089 | 160807894 | 160807894 | Frame_Shift_Del | T | - | p.N1166fs |
| PAAD | TCGA-HZ-7926-01 | exon_skip_344333 | 160843667 | 160843869 | 160843751 | 160843751 | Frame_Shift_Del | T | - | p.K652fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_344337 | 160862163 | 160862332 | 160862226 | 160862226 | Frame_Shift_Del | A | - | p.W591fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_344340 | 160889470 | 160889643 | 160889491 | 160889491 | Frame_Shift_Del | T | - | p.T274fs |
| LUAD | TCGA-05-4432-01 | exon_skip_344337 | 160862163 | 160862332 | 160862202 | 160862202 | Nonsense_Mutation | C | A | p.E599* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_344337 | 160862163 | 160862332 | 160862250 | 160862250 | Nonsense_Mutation | G | A | p.Q583* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_344337 | 160862163 | 160862332 | 160862250 | 160862250 | Nonsense_Mutation | G | A | p.Q583X |
| ESCA | TCGA-L5-A8NS-01 | exon_skip_344304 | 160798257 | 160798503 | 160798256 | 160798256 | Splice_Site | C | - | NULL |
| HNSC | TCGA-F7-7848-01 | exon_skip_344329 | 160833196 | 160833231 | 160833232 | 160833232 | Splice_Site | C | T | p.D801_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F7-7848-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_344329 | |
| Skipped exon start: 160833196 | |
| Skipped exon end: 160833231 | |
| Mutation start: 160833232 | |
| Mutation end: 160833232 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.D801_splice | |
exon_skip_286384_HNSC_TCGA-F7-7848-01.png | |
exon_skip_344329_HNSC_TCGA-F7-7848-01.png | |
exon_skip_421270_HNSC_TCGA-F7-7848-01.png | |
exon_skip_456520_HNSC_TCGA-F7-7848-01.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 |
| CGTHW1_THYROID | 160862163 | 160862332 | 160862201 | 160862202 | Frame_Shift_Ins | - | C | p.E599fs |
| HCT15_LARGE_INTESTINE | 160798257 | 160798503 | 160798377 | 160798377 | Missense_Mutation | C | T | p.R1435Q |
| MKN45_STOMACH | 160798257 | 160798503 | 160798377 | 160798377 | Missense_Mutation | C | T | p.R1435Q |
| SNU81_LARGE_INTESTINE | 160798257 | 160798503 | 160798442 | 160798442 | Missense_Mutation | A | C | p.I1413M |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 160798257 | 160798503 | 160798476 | 160798476 | Missense_Mutation | G | A | p.A1402V |
| IPC298_SKIN | 160798257 | 160798503 | 160798482 | 160798482 | Missense_Mutation | G | A | p.P1400L |
| KELLY_AUTONOMIC_GANGLIA | 160803930 | 160804070 | 160804040 | 160804040 | Missense_Mutation | C | T | p.C1247Y |
| G361_SKIN | 160803930 | 160804070 | 160804047 | 160804047 | Missense_Mutation | C | G | p.E1245Q |
| SW48_LARGE_INTESTINE | 160803930 | 160804070 | 160804058 | 160804058 | Missense_Mutation | G | A | p.S1241F |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 160807851 | 160808089 | 160807892 | 160807892 | Missense_Mutation | G | A | p.R1167W |
| ASPC1_PANCREAS | 160807851 | 160808089 | 160808055 | 160808055 | Missense_Mutation | C | T | p.M1112I |
| MDAMB231_BREAST | 160807851 | 160808089 | 160808065 | 160808065 | Missense_Mutation | G | A | p.T1109I |
| JHUEM1_ENDOMETRIUM | 160812209 | 160812339 | 160812249 | 160812249 | Missense_Mutation | G | T | p.P1038H |
| HEC151_ENDOMETRIUM | 160812209 | 160812339 | 160812274 | 160812274 | Missense_Mutation | A | G | p.Y1030H |
| SNGM_ENDOMETRIUM | 160833196 | 160833231 | 160833216 | 160833216 | Missense_Mutation | A | G | p.I806T |
| M1203273_SKIN | 160843667 | 160843869 | 160843720 | 160843720 | Missense_Mutation | G | A | p.H662Y |
| CHAGOK1_LUNG | 160862163 | 160862332 | 160862244 | 160862244 | Missense_Mutation | C | G | p.D585H |
| LI7_LIVER | 160862163 | 160862332 | 160862246 | 160862246 | Missense_Mutation | T | C | p.N584S |
| KU1919_URINARY_TRACT | 160862163 | 160862332 | 160862246 | 160862246 | Missense_Mutation | T | C | p.N584S |
| SNGM_ENDOMETRIUM | 160862163 | 160862332 | 160862259 | 160862259 | Missense_Mutation | G | T | p.L580I |
| RKO_LARGE_INTESTINE | 160862163 | 160862332 | 160862298 | 160862298 | Missense_Mutation | T | C | p.S567G |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 160876617 | 160876774 | 160876633 | 160876633 | Missense_Mutation | A | G | p.V479A |
| SARC9371_BONE | 160876617 | 160876774 | 160876655 | 160876655 | Missense_Mutation | G | A | p.P472S |
| HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 160889470 | 160889643 | 160889514 | 160889514 | Missense_Mutation | G | A | p.T266M |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 160889470 | 160889643 | 160889589 | 160889589 | Missense_Mutation | A | T | p.I241N |
| CASKI_CERVIX | 160803930 | 160804070 | 160803940 | 160803940 | Nonsense_Mutation | G | T | p.C1280* |
| SKMEL30_SKIN | 160807851 | 160808089 | 160807873 | 160807873 | Nonsense_Mutation | C | T | p.W1173* |
| LS411N_LARGE_INTESTINE | 160833196 | 160833231 | 160833197 | 160833197 | Splice_Site | G | A | p.Y812Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLA2R1 |
| 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_344325 | 2 | 160806118:160806287:160807850:160808089:160811709:160811857 | 160807850:160808089 | ENST00000283243.7,ENST00000392771.1 | BLCA | rs3828323 | chr2:160808075 | C/T | 8.03e-04 |
| exon_skip_344325 | 2 | 160806118:160806287:160807850:160808089:160811709:160811857 | 160807850:160808089 | ENST00000283243.7,ENST00000392771.1 | BLCA | rs3828323 | chr2:160808075 | C/T | 8.03e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLA2R1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLA2R1 |
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RelatedDrugs for PLA2R1 |
| 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 PLA2R1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLA2R1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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