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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 PLSCR4 |
 Gene summary |
| Gene information | Gene symbol | PLSCR4 | Gene ID | 57088 |
| Gene name | phospholipid scramblase 4 | |
| Synonyms | TRA1 | |
| Cytomap | 3q24 | |
| Type of gene | protein-coding | |
| Description | phospholipid scramblase 4Ca(2+)-dependent phospholipid scramblase 4PL scramblase 4cell growth inhibiting protein 43 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NRQ2 | |
| Context | PubMed: PLSCR4 [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 PLSCR4 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 PLSCR4 |
| 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 PLSCR4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389215 | 3 | 145914492:145914580:145917599:145917826:145918821:145918864 | 145917599:145917826 | ENSG00000114698.10 | ENST00000446574.2,ENST00000354952.2,ENST00000460350.1,ENST00000493382.1 |
| exon_skip_389216 | 3 | 145914492:145914580:145918821:145918864:145924312:145924548 | 145918821:145918864 | ENSG00000114698.10 | ENST00000475019.1 |
| exon_skip_389217 | 3 | 145914492:145914580:145924312:145924548:145938601:145938712 | 145924312:145924548 | ENSG00000114698.10 | ENST00000383083.2,ENST00000460885.1,ENST00000433593.2 |
| exon_skip_389218 | 3 | 145924373:145924548:145938601:145938712:145968746:145968866 | 145938601:145938712 | ENSG00000114698.10 | ENST00000433593.2 |
| exon_skip_389219 | 3 | 145938601:145938712:145939851:145939879:145968343:145968424 | 145939851:145939879 | ENSG00000114698.10 | ENST00000446574.2,ENST00000460350.1 |
| exon_skip_389220 | 3 | 145938601:145938712:145939851:145939879:145968746:145968866 | 145939851:145939879 | ENSG00000114698.10 | ENST00000383083.2,ENST00000460885.1 |
| exon_skip_389222 | 3 | 145939851:145939879:145941519:145941564:145968343:145968424 | 145941519:145941564 | ENSG00000114698.10 | ENST00000493382.1 |
| exon_skip_389223 | 3 | 145939851:145939879:145941519:145941564:145968746:145968866 | 145941519:145941564 | ENSG00000114698.10 | ENST00000476202.1 |
| exon_skip_389224 | 3 | 145939851:145939879:145968343:145968424:145968746:145968866 | 145968343:145968424 | ENSG00000114698.10 | ENST00000460350.1 |
| exon_skip_389225 | 3 | 145941519:145941564:145968343:145968424:145968746:145968866 | 145968343:145968424 | ENSG00000114698.10 | ENST00000493382.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLSCR4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389215 | 3 | 145914492:145914580:145917599:145917826:145918821:145918864 | 145917599:145917826 | ENSG00000114698.10 | ENST00000354952.2,ENST00000446574.2,ENST00000493382.1,ENST00000460350.1 |
| exon_skip_389216 | 3 | 145914492:145914580:145918821:145918864:145924312:145924548 | 145918821:145918864 | ENSG00000114698.10 | ENST00000475019.1 |
| exon_skip_389217 | 3 | 145914492:145914580:145924312:145924548:145938601:145938712 | 145924312:145924548 | ENSG00000114698.10 | ENST00000383083.2,ENST00000433593.2,ENST00000460885.1 |
| exon_skip_389218 | 3 | 145924373:145924548:145938601:145938712:145968746:145968866 | 145938601:145938712 | ENSG00000114698.10 | ENST00000433593.2 |
| exon_skip_389219 | 3 | 145938601:145938712:145939851:145939879:145968343:145968424 | 145939851:145939879 | ENSG00000114698.10 | ENST00000446574.2,ENST00000460350.1 |
| exon_skip_389220 | 3 | 145938601:145938712:145939851:145939879:145968746:145968866 | 145939851:145939879 | ENSG00000114698.10 | ENST00000383083.2,ENST00000460885.1 |
| exon_skip_389222 | 3 | 145939851:145939879:145941519:145941564:145968343:145968424 | 145941519:145941564 | ENSG00000114698.10 | ENST00000493382.1 |
| exon_skip_389223 | 3 | 145939851:145939879:145941519:145941564:145968746:145968866 | 145941519:145941564 | ENSG00000114698.10 | ENST00000476202.1 |
| exon_skip_389224 | 3 | 145939851:145939879:145968343:145968424:145968746:145968866 | 145968343:145968424 | ENSG00000114698.10 | ENST00000460350.1 |
| exon_skip_389225 | 3 | 145941519:145941564:145968343:145968424:145968746:145968866 | 145968343:145968424 | ENSG00000114698.10 | ENST00000493382.1 |
| 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 PLSCR4 |
| 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 |
| ENST00000446574 | 145939851 | 145939879 | 3UTR-3CDS |
| ENST00000493382 | 145941519 | 145941564 | 3UTR-3UTR |
| ENST00000493382 | 145968343 | 145968424 | 3UTR-3UTR |
| ENST00000354952 | 145917599 | 145917826 | Frame-shift |
| ENST00000446574 | 145917599 | 145917826 | Frame-shift |
| ENST00000493382 | 145917599 | 145917826 | Frame-shift |
| 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 |
| ENST00000446574 | 145939851 | 145939879 | 3UTR-3CDS |
| ENST00000493382 | 145941519 | 145941564 | 3UTR-3UTR |
| ENST00000493382 | 145968343 | 145968424 | 3UTR-3UTR |
| ENST00000354952 | 145917599 | 145917826 | Frame-shift |
| ENST00000446574 | 145917599 | 145917826 | Frame-shift |
| ENST00000493382 | 145917599 | 145917826 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PLSCR4 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for PLSCR4 |
| - 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. |
PLSCR4_HNSC_exon_skip_389215_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-A1EG-01 | exon_skip_389217 | 145924313 | 145924548 | 145924338 | 145924338 | Frame_Shift_Del | G | - | p.P111fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_389217 | 145924313 | 145924548 | 145924503 | 145924503 | Frame_Shift_Del | C | - | p.G55fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_389218 | 145938602 | 145938712 | 145938667 | 145938667 | Frame_Shift_Del | T | - | p.N18fs |
| HNSC | TCGA-CR-7370-01 | 145917600 | 145917826 | 145917674 | 145917674 | Nonsense_Mutation | G | A | p.R184* | |
| LUAD | TCGA-78-8662-01 | exon_skip_389217 | 145924313 | 145924548 | 145924492 | 145924492 | Nonsense_Mutation | C | A | p.G59* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CR-7370-01 |
| Cancer type: HNSC | |
| ESID: | |
| Skipped exon start: 145917600 | |
| Skipped exon end: 145917826 | |
| Mutation start: 145917674 | |
| Mutation end: 145917674 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R184* | |
exon_skip_344274_HNSC_TCGA-CR-7370-01.png | |
exon_skip_367235_HNSC_TCGA-CR-7370-01.png | |
exon_skip_389215_HNSC_TCGA-CR-7370-01.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 |
| OC316_OVARY | 145938602 | 145938712 | 145938607 | 145938607 | Frame_Shift_Del | A | - | p.L38fs |
| OC314_OVARY | 145938602 | 145938712 | 145938607 | 145938607 | Frame_Shift_Del | A | - | p.L38fs |
| NCIH1341_LUNG | 145917600 | 145917826 | 145917619 | 145917619 | Missense_Mutation | C | A | p.C202F |
| MCC13_SKIN | 145917600 | 145917826 | 145917649 | 145917649 | Missense_Mutation | G | A | p.P192L |
| SW480_LARGE_INTESTINE | 145917600 | 145917826 | 145917654 | 145917654 | Missense_Mutation | C | G | p.Q190H |
| SNU1040_LARGE_INTESTINE | 145917600 | 145917826 | 145917677 | 145917677 | Missense_Mutation | C | T | p.G183S |
| SNU1040_LARGE_INTESTINE | 145917600 | 145917826 | 145917743 | 145917743 | Missense_Mutation | C | A | p.D161Y |
| JHUEM2_ENDOMETRIUM | 145917600 | 145917826 | 145917754 | 145917754 | Missense_Mutation | G | A | p.T157I |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145917600 | 145917826 | 145917774 | 145917774 | Missense_Mutation | G | T | p.D150E |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145917600 | 145917826 | 145917821 | 145917821 | Missense_Mutation | T | C | p.T135A |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145918822 | 145918864 | 145918828 | 145918828 | Missense_Mutation | G | T | p.L131M |
| HCC1143_BREAST | 145924313 | 145924548 | 145924543 | 145924543 | Missense_Mutation | G | C | p.P42A |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145938602 | 145938712 | 145938653 | 145938653 | Missense_Mutation | G | C | p.P23A |
| REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145938602 | 145938712 | 145938703 | 145938703 | Missense_Mutation | G | T | p.P6H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLSCR4 |
| 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_389218 | 3 | 145924373:145924548:145938601:145938712:145968746:145968866 | 145938601:145938712 | ENST00000433593.2 | BRCA | rs3762685 | chr3:145938619 | T/C | 1.82e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLSCR4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLSCR4 |
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RelatedDrugs for PLSCR4 |
| 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 PLSCR4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLSCR4 | C0036341 | Schizophrenia | 1 | PSYGENET |
| PLSCR4 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
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