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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 PLEKHA4 |
 Gene summary |
| Gene information | Gene symbol | PLEKHA4 | Gene ID | 57664 |
| Gene name | pleckstrin homology domain containing A4 | |
| Synonyms | PEPP1 | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 4PH domain-containing family A member 4phosphoinositol 3-phosphate-binding PH domain protein 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H4M7 | |
| Context | PubMed: PLEKHA4 [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 PLEKHA4 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 PLEKHA4 |
| 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 PLEKHA4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320509 | 19 | 49341273:49341386:49342461:49342520:49344405:49344567 | 49342461:49342520 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320511 | 19 | 49341273:49341386:49344405:49344567:49348626:49348703 | 49344405:49344567 | ENSG00000105559.7 | ENST00000597129.1 |
| exon_skip_320512 | 19 | 49342461:49342520:49344405:49344567:49348626:49348703 | 49344405:49344567 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320519 | 19 | 49351156:49351297:49355484:49355583:49356938:49357088 | 49355484:49355583 | ENSG00000105559.7 | ENST00000263265.6,ENST00000355496.5,ENST00000595867.1 |
| exon_skip_320524 | 19 | 49357263:49357344:49357473:49357521:49360678:49360753 | 49357473:49357521 | ENSG00000105559.7 | ENST00000263265.6,ENST00000594195.1 |
| exon_skip_320526 | 19 | 49357473:49357521:49360678:49360753:49362116:49362307 | 49360678:49360753 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320527 | 19 | 49357473:49357521:49360678:49360753:49362458:49362631 | 49360678:49360753 | ENSG00000105559.7 | ENST00000594195.1 |
| exon_skip_320535 | 19 | 49357473:49357521:49362116:49362396:49362725:49362941 | 49362116:49362396 | ENSG00000105559.7 | ENST00000355496.5 |
| exon_skip_320542 | 19 | 49360678:49360753:49362116:49362396:49362725:49362941 | 49362116:49362396 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320544 | 19 | 49362353:49362396:49362725:49362941:49363606:49363716 | 49362725:49362941 | ENSG00000105559.7 | ENST00000263265.6,ENST00000594100.1,ENST00000596982.1,ENST00000355496.5 |
| exon_skip_320548 | 19 | 49363606:49363716:49364657:49364758:49368759:49368814 | 49364657:49364758 | ENSG00000105559.7 | ENST00000596982.1 |
| exon_skip_320567 | 19 | 49364657:49364758:49364876:49364949:49368759:49368814 | 49364876:49364949 | ENSG00000105559.7 | ENST00000263265.6,ENST00000355496.5 |
| exon_skip_320569 | 19 | 49364657:49364758:49364876:49364949:49370793:49370852 | 49364876:49364949 | ENSG00000105559.7 | ENST00000594100.1 |
| exon_skip_320591 | 19 | 49364876:49364949:49368759:49368867:49370793:49370852 | 49368759:49368867 | ENSG00000105559.7 | ENST00000263265.6,ENST00000355496.5 |
| exon_skip_320594 | 19 | 49368759:49368867:49370793:49370883:49371339:49371711 | 49370793:49370883 | ENSG00000105559.7 | ENST00000263265.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLEKHA4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320509 | 19 | 49341273:49341386:49342461:49342520:49344405:49344567 | 49342461:49342520 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320511 | 19 | 49341273:49341386:49344405:49344567:49348626:49348703 | 49344405:49344567 | ENSG00000105559.7 | ENST00000597129.1 |
| exon_skip_320512 | 19 | 49342461:49342520:49344405:49344567:49348626:49348703 | 49344405:49344567 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320519 | 19 | 49351156:49351297:49355484:49355583:49356938:49357088 | 49355484:49355583 | ENSG00000105559.7 | ENST00000355496.5,ENST00000263265.6,ENST00000595867.1 |
| exon_skip_320524 | 19 | 49357263:49357344:49357473:49357521:49360678:49360753 | 49357473:49357521 | ENSG00000105559.7 | ENST00000263265.6,ENST00000594195.1 |
| exon_skip_320526 | 19 | 49357473:49357521:49360678:49360753:49362116:49362307 | 49360678:49360753 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320527 | 19 | 49357473:49357521:49360678:49360753:49362458:49362631 | 49360678:49360753 | ENSG00000105559.7 | ENST00000594195.1 |
| exon_skip_320535 | 19 | 49357473:49357521:49362116:49362396:49362725:49362941 | 49362116:49362396 | ENSG00000105559.7 | ENST00000355496.5 |
| exon_skip_320542 | 19 | 49360678:49360753:49362116:49362396:49362725:49362941 | 49362116:49362396 | ENSG00000105559.7 | ENST00000263265.6 |
| exon_skip_320544 | 19 | 49362353:49362396:49362725:49362941:49363606:49363716 | 49362725:49362941 | ENSG00000105559.7 | ENST00000355496.5,ENST00000263265.6,ENST00000596982.1,ENST00000594100.1 |
| exon_skip_320548 | 19 | 49363606:49363716:49364657:49364758:49368759:49368814 | 49364657:49364758 | ENSG00000105559.7 | ENST00000596982.1 |
| exon_skip_320567 | 19 | 49364657:49364758:49364876:49364949:49368759:49368814 | 49364876:49364949 | ENSG00000105559.7 | ENST00000355496.5,ENST00000263265.6 |
| exon_skip_320569 | 19 | 49364657:49364758:49364876:49364949:49370793:49370852 | 49364876:49364949 | ENSG00000105559.7 | ENST00000594100.1 |
| exon_skip_320591 | 19 | 49364876:49364949:49368759:49368867:49370793:49370852 | 49368759:49368867 | ENSG00000105559.7 | ENST00000355496.5,ENST00000263265.6 |
| exon_skip_320594 | 19 | 49368759:49368867:49370793:49370883:49371339:49371711 | 49370793:49370883 | ENSG00000105559.7 | ENST00000263265.6 |
| 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 PLEKHA4 |
| 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 |
| ENST00000263265 | 49370793 | 49370883 | 3UTR-3CDS |
| ENST00000263265 | 49342461 | 49342520 | Frame-shift |
| ENST00000263265 | 49362116 | 49362396 | Frame-shift |
| ENST00000263265 | 49364876 | 49364949 | Frame-shift |
| ENST00000263265 | 49344405 | 49344567 | In-frame |
| ENST00000263265 | 49355484 | 49355583 | In-frame |
| ENST00000263265 | 49357473 | 49357521 | In-frame |
| ENST00000263265 | 49360678 | 49360753 | In-frame |
| ENST00000263265 | 49362725 | 49362941 | In-frame |
| ENST00000263265 | 49368759 | 49368867 | 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 |
| ENST00000263265 | 49370793 | 49370883 | 3UTR-3CDS |
| ENST00000263265 | 49342461 | 49342520 | Frame-shift |
| ENST00000263265 | 49362116 | 49362396 | Frame-shift |
| ENST00000263265 | 49364876 | 49364949 | Frame-shift |
| ENST00000263265 | 49344405 | 49344567 | In-frame |
| ENST00000263265 | 49355484 | 49355583 | In-frame |
| ENST00000263265 | 49357473 | 49357521 | In-frame |
| ENST00000263265 | 49360678 | 49360753 | In-frame |
| ENST00000263265 | 49362725 | 49362941 | In-frame |
| ENST00000263265 | 49368759 | 49368867 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHA4 |
| 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 |
| ENST00000263265 | 3105 | 779 | 49368759 | 49368867 | 641 | 748 | 28 | 64 |
| ENST00000263265 | 3105 | 779 | 49362725 | 49362941 | 1033 | 1248 | 159 | 230 |
| ENST00000263265 | 3105 | 779 | 49360678 | 49360753 | 1529 | 1603 | 324 | 349 |
| ENST00000263265 | 3105 | 779 | 49357473 | 49357521 | 1604 | 1651 | 349 | 365 |
| ENST00000263265 | 3105 | 779 | 49355484 | 49355583 | 1883 | 1981 | 442 | 475 |
| ENST00000263265 | 3105 | 779 | 49344405 | 49344567 | 2300 | 2461 | 581 | 635 |
| 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 |
| ENST00000263265 | 3105 | 779 | 49368759 | 49368867 | 641 | 748 | 28 | 64 |
| ENST00000263265 | 3105 | 779 | 49362725 | 49362941 | 1033 | 1248 | 159 | 230 |
| ENST00000263265 | 3105 | 779 | 49360678 | 49360753 | 1529 | 1603 | 324 | 349 |
| ENST00000263265 | 3105 | 779 | 49357473 | 49357521 | 1604 | 1651 | 349 | 365 |
| ENST00000263265 | 3105 | 779 | 49355484 | 49355583 | 1883 | 1981 | 442 | 475 |
| ENST00000263265 | 3105 | 779 | 49344405 | 49344567 | 2300 | 2461 | 581 | 635 |
| 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 |
| Q9H4M7 | 28 | 64 | 55 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UPQ |
| Q9H4M7 | 28 | 64 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 28 | 64 | 54 | 153 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9H4M7 | 28 | 64 | 37 | 37 | Natural variant | ID=VAR_056667;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs506425,PMID:15489334 |
| Q9H4M7 | 159 | 230 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 159 | 230 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 159 | 230 | 164 | 164 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9H4M7 | 324 | 349 | 325 | 349 | Alternative sequence | ID=VSP_009770;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 324 | 349 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 324 | 349 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 349 | 365 | 325 | 349 | Alternative sequence | ID=VSP_009770;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 349 | 365 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 349 | 365 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 442 | 475 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 581 | 635 | 582 | 608 | Alternative sequence | ID=VSP_009771;Note=In isoform 2. APVARPRMSAQEQLERMRRNQECGRPF->SKEHHPLLADFRRSPGAGSQPLPSPGY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 581 | 635 | 609 | 779 | Alternative sequence | ID=VSP_009772;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 581 | 635 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 581 | 635 | 597 | 597 | Natural variant | ID=VAR_056668;Note=R->Q;Dbxref=dbSNP:rs12460394 |
| Q9H4M7 | 581 | 635 | 590 | 590 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9H4M7 | 28 | 64 | 55 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1UPQ |
| Q9H4M7 | 28 | 64 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 28 | 64 | 54 | 153 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9H4M7 | 28 | 64 | 37 | 37 | Natural variant | ID=VAR_056667;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs506425,PMID:15489334 |
| Q9H4M7 | 159 | 230 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 159 | 230 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 159 | 230 | 164 | 164 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9H4M7 | 324 | 349 | 325 | 349 | Alternative sequence | ID=VSP_009770;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 324 | 349 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 324 | 349 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 349 | 365 | 325 | 349 | Alternative sequence | ID=VSP_009770;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 349 | 365 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 349 | 365 | 162 | 353 | Compositional bias | Note=Pro-rich |
| Q9H4M7 | 442 | 475 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 581 | 635 | 582 | 608 | Alternative sequence | ID=VSP_009771;Note=In isoform 2. APVARPRMSAQEQLERMRRNQECGRPF->SKEHHPLLADFRRSPGAGSQPLPSPGY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 581 | 635 | 609 | 779 | Alternative sequence | ID=VSP_009772;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H4M7 | 581 | 635 | 1 | 779 | Chain | ID=PRO_0000053880;Note=Pleckstrin homology domain-containing family A member 4 |
| Q9H4M7 | 581 | 635 | 597 | 597 | Natural variant | ID=VAR_056668;Note=R->Q;Dbxref=dbSNP:rs12460394 |
| Q9H4M7 | 581 | 635 | 590 | 590 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for PLEKHA4 |
| - 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-G3-A3CJ-01 | exon_skip_320511 exon_skip_320512 | 49344406 | 49344567 | 49344553 | 49344553 | Frame_Shift_Del | C | - | p.R586fs |
| UCS | TCGA-NF-A4X2-01 | exon_skip_320542 exon_skip_320535 | 49362117 | 49362396 | 49362194 | 49362200 | Frame_Shift_Del | GGCGGGG | - | p.297_299del |
| UCS | TCGA-NF-A4X2-01 | exon_skip_320542 exon_skip_320535 | 49362117 | 49362396 | 49362194 | 49362200 | Frame_Shift_Del | GGCGGGG | - | p.PRR297fs |
| STAD | TCGA-CG-5723-01 | exon_skip_320548 | 49364658 | 49364758 | 49364680 | 49364681 | Frame_Shift_Ins | - | G | p.R115fs |
| STAD | TCGA-CG-5723-01 | exon_skip_320548 | 49364658 | 49364758 | 49364681 | 49364682 | Frame_Shift_Ins | - | G | p.R115fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_320544 | 49362726 | 49362941 | 49362823 | 49362823 | Nonsense_Mutation | G | A | p.R199X |
| STAD | TCGA-CD-A48C-01 | exon_skip_320548 | 49364658 | 49364758 | 49364712 | 49364712 | Nonsense_Mutation | G | T | p.Y104* |
| STAD | TCGA-CD-A48C-01 | exon_skip_320548 | 49364658 | 49364758 | 49364712 | 49364712 | Nonsense_Mutation | G | T | p.Y104X |
| - 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 |
| SKMEL3_SKIN | 49344406 | 49344567 | 49344448 | 49344448 | Frame_Shift_Del | C | - | p.R621fs |
| KM12_LARGE_INTESTINE | 49362117 | 49362396 | 49362319 | 49362319 | Frame_Shift_Del | G | - | p.P257fs |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 49362726 | 49362941 | 49362746 | 49362746 | Frame_Shift_Del | C | - | p.M224fs |
| NCIH64_LUNG | 49342462 | 49342520 | 49342474 | 49342474 | Missense_Mutation | C | T | p.G651E |
| NCIH2405_LUNG | 49342462 | 49342520 | 49342501 | 49342501 | Missense_Mutation | C | A | p.G642V |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 49344406 | 49344567 | 49344495 | 49344495 | Missense_Mutation | G | A | p.R606W |
| SNU81_LARGE_INTESTINE | 49344406 | 49344567 | 49344535 | 49344535 | Missense_Mutation | C | A | p.Q592H |
| TGBC1TKB_BILIARY_TRACT | 49355485 | 49355583 | 49355492 | 49355492 | Missense_Mutation | G | C | p.S473C |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 49355485 | 49355583 | 49355519 | 49355519 | Missense_Mutation | G | T | p.T464K |
| KPNSI9S_AUTONOMIC_GANGLIA | 49355485 | 49355583 | 49355579 | 49355579 | Missense_Mutation | C | T | p.R444Q |
| RKO_LARGE_INTESTINE | 49357474 | 49357521 | 49357508 | 49357508 | Missense_Mutation | A | G | p.L354P |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 49360679 | 49360753 | 49360690 | 49360690 | Missense_Mutation | T | C | p.M346V |
| SNU761_LIVER | 49360679 | 49360753 | 49360738 | 49360738 | Missense_Mutation | G | A | p.P330S |
| TTC709_SOFT_TISSUE | 49362117 | 49362396 | 49362191 | 49362191 | Missense_Mutation | C | T | p.G300R |
| NCIH82_LUNG | 49362117 | 49362396 | 49362200 | 49362200 | Missense_Mutation | G | A | p.P297S |
| HEC59_ENDOMETRIUM | 49362117 | 49362396 | 49362227 | 49362227 | Missense_Mutation | G | A | p.R288C |
| NCIH2110_LUNG | 49362117 | 49362396 | 49362232 | 49362232 | Missense_Mutation | G | A | p.P286L |
| SNU1040_LARGE_INTESTINE | 49362117 | 49362396 | 49362265 | 49362265 | Missense_Mutation | C | T | p.R275H |
| EN_ENDOMETRIUM | 49362117 | 49362396 | 49362289 | 49362289 | Missense_Mutation | G | A | p.A267V |
| KYSE140_OESOPHAGUS | 49362117 | 49362396 | 49362370 | 49362371 | Missense_Mutation | GG | AA | p.P240F |
| WM793_SKIN | 49362117 | 49362396 | 49362385 | 49362385 | Missense_Mutation | G | A | p.P235L |
| WM793_SKIN | 49362117 | 49362396 | 49362386 | 49362386 | Missense_Mutation | G | A | p.P235S |
| TE6_OESOPHAGUS | 49362726 | 49362941 | 49362888 | 49362888 | Missense_Mutation | G | A | p.P177L |
| CW2_LARGE_INTESTINE | 49362726 | 49362941 | 49362931 | 49362931 | Missense_Mutation | T | C | p.R163G |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49364658 | 49364758 | 49364692 | 49364692 | Missense_Mutation | G | A | p.P111L |
| NCIH1299_LUNG | 49364658 | 49364758 | 49364740 | 49364740 | Missense_Mutation | A | G | p.V95A |
| MFE319_ENDOMETRIUM | 49364658 | 49364758 | 49364743 | 49364743 | Missense_Mutation | C | A | p.S94I |
| CORL24_LUNG | 49364877 | 49364949 | 49364882 | 49364882 | Missense_Mutation | T | A | p.Y87F |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49364877 | 49364949 | 49364901 | 49364901 | Missense_Mutation | C | T | p.G81S |
| HCC515_LUNG | 49364877 | 49364949 | 49364921 | 49364921 | Missense_Mutation | C | T | p.R74H |
| NCIH2023_LUNG | 49362117 | 49362396 | 49362117 | 49362117 | Splice_Site | C | A | p.Q324H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHA4 |
| 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_320591 | 19 | 49364876:49364949:49368759:49368867:49370793:49370852 | 49368759:49368867 | ENST00000263265.6,ENST00000355496.5 | PCPG | rs506425 | chr19:49368843 | T/C | 9.03e-06 |
| exon_skip_320591 | 19 | 49364876:49364949:49368759:49368867:49370793:49370852 | 49368759:49368867 | ENST00000263265.6,ENST00000355496.5 | PRAD | rs506425 | chr19:49368843 | T/C | 1.41e-07 |
| exon_skip_320591 | 19 | 49364876:49364949:49368759:49368867:49370793:49370852 | 49368759:49368867 | ENST00000263265.6,ENST00000355496.5 | PRAD | rs506425 | chr19:49368843 | T/C | 3.03e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA4 |
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RelatedDrugs for PLEKHA4 |
| 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 PLEKHA4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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