|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PLA1A |
 Gene summary |
| Gene information | Gene symbol | PLA1A | Gene ID | 51365 |
| Gene name | phospholipase A1 member A | |
| Synonyms | PS-PLA1|PSPLA1 | |
| Cytomap | 3q13.33 | |
| Type of gene | protein-coding | |
| Description | phospholipase A1 member Aphosphatidylserine-specific phospholipase A1alpha | |
| Modification date | 20180519 | |
| UniProtAcc | Q53H76 | |
| Context | PubMed: PLA1A [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 |
Top |
Exon skipping events across known transcript of Ensembl for PLA1A 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. |
 |
Top |
Gene isoform structures and expression levels for PLA1A |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PLA1A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376952 | 3 | 119316731:119316833:119325620:119325822:119327616:119327746 | 119325620:119325822 | ENSG00000144837.4 | ENST00000495992.1 |
| exon_skip_376957 | 3 | 119328314:119328423:119331863:119331965:119334858:119334948 | 119331863:119331965 | ENSG00000144837.4 | ENST00000273371.4,ENST00000494440.1,ENST00000488919.1,ENST00000475963.1,ENST00000495992.1 |
| exon_skip_376962 | 3 | 119331863:119331965:119334858:119334948:119336865:119337033 | 119334858:119334948 | ENSG00000144837.4 | ENST00000273371.4,ENST00000494440.1,ENST00000488919.1,ENST00000475963.1,ENST00000495992.1 |
| exon_skip_376963 | 3 | 119334858:119334948:119336865:119337033:119338409:119338499 | 119336865:119337033 | ENSG00000144837.4 | ENST00000273371.4,ENST00000494440.1,ENST00000488919.1,ENST00000475963.1,ENST00000495992.1 |
| exon_skip_376965 | 3 | 119338409:119338499:119343970:119344079:119347547:119347712 | 119343970:119344079 | ENSG00000144837.4 | ENST00000273371.4,ENST00000494440.1,ENST00000488919.1,ENST00000495992.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PLA1A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376952 | 3 | 119316731:119316833:119325620:119325822:119327616:119327746 | 119325620:119325822 | ENSG00000144837.4 | ENST00000495992.1 |
| exon_skip_376957 | 3 | 119328314:119328423:119331863:119331965:119334858:119334948 | 119331863:119331965 | ENSG00000144837.4 | ENST00000273371.4,ENST00000488919.1,ENST00000495992.1,ENST00000494440.1,ENST00000475963.1 |
| exon_skip_376962 | 3 | 119331863:119331965:119334858:119334948:119336865:119337033 | 119334858:119334948 | ENSG00000144837.4 | ENST00000273371.4,ENST00000488919.1,ENST00000495992.1,ENST00000494440.1,ENST00000475963.1 |
| exon_skip_376963 | 3 | 119334858:119334948:119336865:119337033:119338409:119338499 | 119336865:119337033 | ENSG00000144837.4 | ENST00000273371.4,ENST00000488919.1,ENST00000495992.1,ENST00000494440.1,ENST00000475963.1 |
| exon_skip_376965 | 3 | 119338409:119338499:119343970:119344079:119347547:119347712 | 119343970:119344079 | ENSG00000144837.4 | ENST00000273371.4,ENST00000488919.1,ENST00000495992.1,ENST00000494440.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PLA1A |
| 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 |
| ENST00000273371 | 119343970 | 119344079 | Frame-shift |
| ENST00000273371 | 119331863 | 119331965 | In-frame |
| ENST00000273371 | 119334858 | 119334948 | In-frame |
| ENST00000273371 | 119336865 | 119337033 | 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 |
| ENST00000273371 | 119343970 | 119344079 | Frame-shift |
| ENST00000273371 | 119331863 | 119331965 | In-frame |
| ENST00000273371 | 119334858 | 119334948 | In-frame |
| ENST00000273371 | 119336865 | 119337033 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PLA1A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000273371 | 1803 | 456 | 119331863 | 119331965 | 635 | 736 | 187 | 221 |
| ENST00000273371 | 1803 | 456 | 119334858 | 119334948 | 737 | 826 | 221 | 251 |
| ENST00000273371 | 1803 | 456 | 119336865 | 119337033 | 827 | 994 | 251 | 307 |
| 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 |
| ENST00000273371 | 1803 | 456 | 119331863 | 119331965 | 635 | 736 | 187 | 221 |
| ENST00000273371 | 1803 | 456 | 119334858 | 119334948 | 737 | 826 | 221 | 251 |
| ENST00000273371 | 1803 | 456 | 119336865 | 119337033 | 827 | 994 | 251 | 307 |
| 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 |
| Q53H76 | 187 | 221 | 190 | 190 | Active site | Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10037 |
| Q53H76 | 187 | 221 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 187 | 221 | 213 | 213 | Sequence conflict | Note=V->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53H76 | 221 | 251 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 221 | 251 | 245 | 258 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 260 | 260 | Active site | Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10037 |
| Q53H76 | 251 | 307 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 251 | 307 | 245 | 258 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 282 | 293 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 296 | 304 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 284 | 284 | Natural variant | ID=VAR_030128;Note=S->N;Dbxref=dbSNP:rs2692622 |
| 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 |
| Q53H76 | 187 | 221 | 190 | 190 | Active site | Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10037 |
| Q53H76 | 187 | 221 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 187 | 221 | 213 | 213 | Sequence conflict | Note=V->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q53H76 | 221 | 251 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 221 | 251 | 245 | 258 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 260 | 260 | Active site | Note=Charge relay system;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10037 |
| Q53H76 | 251 | 307 | 26 | 456 | Chain | ID=PRO_0000273330;Note=Phospholipase A1 member A |
| Q53H76 | 251 | 307 | 245 | 258 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 282 | 293 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 296 | 304 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q53H76 | 251 | 307 | 284 | 284 | Natural variant | ID=VAR_030128;Note=S->N;Dbxref=dbSNP:rs2692622 |
Top |
SNVs in the skipped exons for PLA1A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A1EG-01 | exon_skip_376952 | 119325621 | 119325822 | 119325768 | 119325768 | Frame_Shift_Del | A | - | p.Q74fs |
| BRCA | TCGA-A8-A08F-01 | exon_skip_376965 | 119343971 | 119344079 | 119344029 | 119344041 | Frame_Shift_Del | CGAGGTTACCTTC | - | p.E358fs |
| HNSC | TCGA-UF-A71D-01 | exon_skip_376952 | 119325621 | 119325822 | 119325794 | 119325794 | Nonsense_Mutation | G | T | p.G83* |
| - 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 |
| GP5D_LARGE_INTESTINE | 119325621 | 119325822 | 119325636 | 119325636 | Frame_Shift_Del | C | - | p.T30fs |
| PCI4B_UPPER_AERODIGESTIVE_TRACT | 119331864 | 119331965 | 119331878 | 119331878 | Frame_Shift_Del | G | - | p.G193fs |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119325621 | 119325822 | 119325639 | 119325639 | Missense_Mutation | C | A | p.P31Q |
| NCIH1184_LUNG | 119325621 | 119325822 | 119325734 | 119325734 | Missense_Mutation | T | G | p.C63G |
| CAL148_BREAST | 119325621 | 119325822 | 119325774 | 119325774 | Missense_Mutation | C | G | p.S76C |
| HCT15_LARGE_INTESTINE | 119331864 | 119331965 | 119331875 | 119331875 | Missense_Mutation | G | A | p.A192T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 119331864 | 119331965 | 119331912 | 119331912 | Missense_Mutation | G | A | p.R204H |
| SARC9371_BONE | 119331864 | 119331965 | 119331932 | 119331932 | Missense_Mutation | C | T | p.L211F |
| HEC151_ENDOMETRIUM | 119331864 | 119331965 | 119331962 | 119331962 | Missense_Mutation | G | A | p.D221N |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 119334859 | 119334948 | 119334870 | 119334870 | Missense_Mutation | C | T | p.R226W |
| NCIH1395_LUNG | 119334859 | 119334948 | 119334870 | 119334870 | Missense_Mutation | C | T | p.R226W |
| 639V_URINARY_TRACT | 119334859 | 119334948 | 119334945 | 119334945 | Missense_Mutation | G | A | p.A251T |
| NCIH128_LUNG | 119336866 | 119337033 | 119336891 | 119336891 | Missense_Mutation | C | A | p.H260Q |
| ISTSL2_LUNG | 119336866 | 119337033 | 119336902 | 119336902 | Missense_Mutation | T | A | p.V264E |
| DMS114_LUNG | 119336866 | 119337033 | 119336959 | 119336959 | Missense_Mutation | C | T | p.A283V |
| DU145_PROSTATE | 119336866 | 119337033 | 119337016 | 119337016 | Missense_Mutation | T | A | p.L302H |
| TE4_OESOPHAGUS | 119325621 | 119325822 | 119325701 | 119325701 | Nonsense_Mutation | C | T | p.Q52* |
| NCIH1963_LUNG | 119325621 | 119325822 | 119325794 | 119325794 | Nonsense_Mutation | G | T | p.G83* |
| HEC50B_ENDOMETRIUM | 119325621 | 119325822 | 119325622 | 119325622 | Splice_Site | G | T | p.G25G |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLA1A |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLA1A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLA1A |
Top |
RelatedDrugs for PLA1A |
| 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 |
Top |
RelatedDiseases for PLA1A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|