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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 PI4KA |
 Gene summary |
| Gene information | Gene symbol | PI4KA | Gene ID | 5297 |
| Gene name | phosphatidylinositol 4-kinase alpha | |
| Synonyms | PI4K-ALPHA|PIK4CA|PMGYCHA|pi4K230 | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 4-kinase alphaPI4-kinase alphaphosphatidylinositol 4-kinase 230phosphatidylinositol 4-kinase III alphaphosphatidylinositol 4-kinase IIII+/-phosphatidylinositol 4-kinase, catalytic, alphaphosphatidylinositol 4-kinase, type III, a | |
| Modification date | 20180523 | |
| UniProtAcc | P42356 | |
| Context | PubMed: PI4KA [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 |
| PI4KA | GO:0016310 | phosphorylation | 25327288 |
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Exon skipping events across known transcript of Ensembl for PI4KA 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 PI4KA |
| 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 PI4KA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367661 | 22 | 21063583:21063667:21064195:21064285:21064986:21065146 | 21064195:21064285 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000399213.2,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367678 | 22 | 21065039:21065146:21065628:21065749:21066773:21066899 | 21065628:21065749 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000482030.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367679 | 22 | 21065628:21065749:21066773:21066899:21066980:21067085 | 21066773:21066899 | ENSG00000241973.6 | ENST00000492581.1,ENST00000466394.1,ENST00000477245.1,ENST00000572273.1,ENST00000482030.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367682 | 22 | 21066795:21066899:21066980:21067085:21067568:21067678 | 21066980:21067085 | ENSG00000241973.6 | ENST00000466394.1,ENST00000477245.1,ENST00000572273.1,ENST00000466772.1,ENST00000399213.2,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367688 | 22 | 21068745:21068816:21068915:21068988:21071995:21072066 | 21068915:21068988 | ENSG00000241973.6 | ENST00000492581.1,ENST00000466394.1,ENST00000477245.1,ENST00000572273.1,ENST00000466772.1,ENST00000399213.2,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367690 | 22 | 21072980:21073110:21075585:21075706:21080775:21080829 | 21075585:21075706 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367691 | 22 | 21075585:21075706:21080775:21080829:21081517:21081581 | 21080775:21080829 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367692 | 22 | 21075585:21075706:21080785:21080829:21081517:21081581 | 21080785:21080829 | ENSG00000241973.6 | ENST00000466772.1 |
| exon_skip_367693 | 22 | 21080785:21080829:21081517:21081685:21082061:21082152 | 21081517:21081685 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367694 | 22 | 21081517:21081685:21082061:21082152:21083600:21083759 | 21082061:21082152 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367696 | 22 | 21083919:21083999:21084179:21084299:21087258:21087386 | 21084179:21084299 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367698 | 22 | 21084179:21084299:21087258:21087386:21088023:21088131 | 21087258:21087386 | ENSG00000241973.6 | ENST00000477245.1,ENST00000572273.1,ENST00000414196.3,ENST00000255882.6 |
| exon_skip_367701 | 22 | 21088330:21088482:21088682:21088841:21096515:21096643 | 21088682:21088841 | ENSG00000241973.6 | ENST00000572273.1,ENST00000255882.6 |
| exon_skip_367707 | 22 | 21096895:21097052:21098915:21099008:21101870:21101990 | 21098915:21099008 | ENSG00000241973.6 | ENST00000572273.1,ENST00000255882.6 |
| exon_skip_367711 | 22 | 21101870:21101990:21104192:21104282:21105580:21105664 | 21104192:21104282 | ENSG00000241973.6 | ENST00000572273.1,ENST00000475414.1,ENST00000255882.6 |
| exon_skip_367713 | 22 | 21147480:21147531:21150433:21150602:21152871:21152975 | 21150433:21150602 | ENSG00000241973.6 | ENST00000572273.1,ENST00000255882.6 |
| exon_skip_367715 | 22 | 21153380:21153564:21153958:21154054:21156260:21156306 | 21153958:21154054 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1,ENST00000485950.1,ENST00000255882.6 |
| exon_skip_367718 | 22 | 21159261:21159453:21161649:21161746:21165254:21165320 | 21161649:21161746 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1,ENST00000255882.6 |
| exon_skip_367720 | 22 | 21161649:21161746:21165254:21165320:21167645:21167794 | 21165254:21165320 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1,ENST00000255882.6 |
| exon_skip_367721 | 22 | 21165254:21165320:21167645:21167794:21172770:21172837 | 21167645:21167794 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1,ENST00000255882.6 |
| exon_skip_367723 | 22 | 21178634:21178702:21188849:21188943:21192902:21193019 | 21188849:21188943 | ENSG00000241973.6 | ENST00000449120.1,ENST00000572273.1,ENST00000485963.1,ENST00000255882.6 |
| exon_skip_367724 | 22 | 21188849:21188943:21192902:21193019:21212857:21213070 | 21192902:21193019 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PI4KA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_367661 | 22 | 21063583:21063667:21064195:21064285:21064986:21065146 | 21064195:21064285 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1,ENST00000399213.2 |
| exon_skip_367678 | 22 | 21065039:21065146:21065628:21065749:21066773:21066899 | 21065628:21065749 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1,ENST00000482030.1 |
| exon_skip_367679 | 22 | 21065628:21065749:21066773:21066899:21066980:21067085 | 21066773:21066899 | ENSG00000241973.6 | ENST00000255882.6,ENST00000492581.1,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1,ENST00000482030.1,ENST00000466394.1 |
| exon_skip_367682 | 22 | 21066795:21066899:21066980:21067085:21067568:21067678 | 21066980:21067085 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1,ENST00000466772.1,ENST00000399213.2,ENST00000466394.1 |
| exon_skip_367688 | 22 | 21068745:21068816:21068915:21068988:21071995:21072066 | 21068915:21068988 | ENSG00000241973.6 | ENST00000255882.6,ENST00000492581.1,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1,ENST00000466772.1,ENST00000399213.2,ENST00000466394.1 |
| exon_skip_367690 | 22 | 21072980:21073110:21075585:21075706:21080775:21080829 | 21075585:21075706 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367691 | 22 | 21075585:21075706:21080775:21080829:21081517:21081581 | 21080775:21080829 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367692 | 22 | 21075585:21075706:21080785:21080829:21081517:21081581 | 21080785:21080829 | ENSG00000241973.6 | ENST00000466772.1 |
| exon_skip_367693 | 22 | 21080785:21080829:21081517:21081685:21082061:21082152 | 21081517:21081685 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367694 | 22 | 21081517:21081685:21082061:21082152:21083600:21083759 | 21082061:21082152 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367696 | 22 | 21083919:21083999:21084179:21084299:21087258:21087386 | 21084179:21084299 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367698 | 22 | 21084179:21084299:21087258:21087386:21088023:21088131 | 21087258:21087386 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000414196.3,ENST00000477245.1 |
| exon_skip_367701 | 22 | 21088330:21088482:21088682:21088841:21096515:21096643 | 21088682:21088841 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1 |
| exon_skip_367707 | 22 | 21096895:21097052:21098915:21099008:21101870:21101990 | 21098915:21099008 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1 |
| exon_skip_367711 | 22 | 21101870:21101990:21104192:21104282:21105580:21105664 | 21104192:21104282 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000475414.1 |
| exon_skip_367713 | 22 | 21147480:21147531:21150433:21150602:21152871:21152975 | 21150433:21150602 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1 |
| exon_skip_367715 | 22 | 21153380:21153564:21153958:21154054:21156260:21156306 | 21153958:21154054 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000485963.1,ENST00000485950.1 |
| exon_skip_367718 | 22 | 21159261:21159453:21161649:21161746:21165254:21165320 | 21161649:21161746 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000485963.1 |
| exon_skip_367720 | 22 | 21161649:21161746:21165254:21165320:21167645:21167794 | 21165254:21165320 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000485963.1 |
| exon_skip_367721 | 22 | 21165254:21165320:21167645:21167794:21172770:21172837 | 21167645:21167794 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000485963.1 |
| exon_skip_367723 | 22 | 21178634:21178702:21188849:21188943:21192902:21193019 | 21188849:21188943 | ENSG00000241973.6 | ENST00000255882.6,ENST00000572273.1,ENST00000485963.1,ENST00000449120.1 |
| exon_skip_367724 | 22 | 21188849:21188943:21192902:21193019:21212857:21213070 | 21192902:21193019 | ENSG00000241973.6 | ENST00000572273.1,ENST00000485963.1 |
| 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 PI4KA |
| 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 |
| ENST00000255882 | 21065628 | 21065749 | Frame-shift |
| ENST00000255882 | 21068915 | 21068988 | Frame-shift |
| ENST00000255882 | 21075585 | 21075706 | Frame-shift |
| ENST00000255882 | 21082061 | 21082152 | Frame-shift |
| ENST00000255882 | 21087258 | 21087386 | Frame-shift |
| ENST00000255882 | 21150433 | 21150602 | Frame-shift |
| ENST00000255882 | 21161649 | 21161746 | Frame-shift |
| ENST00000255882 | 21167645 | 21167794 | Frame-shift |
| ENST00000255882 | 21188849 | 21188943 | Frame-shift |
| ENST00000255882 | 21064195 | 21064285 | In-frame |
| ENST00000255882 | 21066773 | 21066899 | In-frame |
| ENST00000255882 | 21066980 | 21067085 | In-frame |
| ENST00000255882 | 21080775 | 21080829 | In-frame |
| ENST00000255882 | 21081517 | 21081685 | In-frame |
| ENST00000255882 | 21084179 | 21084299 | In-frame |
| ENST00000255882 | 21088682 | 21088841 | In-frame |
| ENST00000255882 | 21098915 | 21099008 | In-frame |
| ENST00000255882 | 21104192 | 21104282 | In-frame |
| ENST00000255882 | 21153958 | 21154054 | In-frame |
| ENST00000255882 | 21165254 | 21165320 | 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 |
| ENST00000255882 | 21065628 | 21065749 | Frame-shift |
| ENST00000255882 | 21068915 | 21068988 | Frame-shift |
| ENST00000255882 | 21075585 | 21075706 | Frame-shift |
| ENST00000255882 | 21082061 | 21082152 | Frame-shift |
| ENST00000255882 | 21087258 | 21087386 | Frame-shift |
| ENST00000255882 | 21150433 | 21150602 | Frame-shift |
| ENST00000255882 | 21161649 | 21161746 | Frame-shift |
| ENST00000255882 | 21167645 | 21167794 | Frame-shift |
| ENST00000255882 | 21188849 | 21188943 | Frame-shift |
| ENST00000255882 | 21064195 | 21064285 | In-frame |
| ENST00000255882 | 21066773 | 21066899 | In-frame |
| ENST00000255882 | 21066980 | 21067085 | In-frame |
| ENST00000255882 | 21080775 | 21080829 | In-frame |
| ENST00000255882 | 21081517 | 21081685 | In-frame |
| ENST00000255882 | 21084179 | 21084299 | In-frame |
| ENST00000255882 | 21088682 | 21088841 | In-frame |
| ENST00000255882 | 21098915 | 21099008 | In-frame |
| ENST00000255882 | 21104192 | 21104282 | In-frame |
| ENST00000255882 | 21153958 | 21154054 | In-frame |
| ENST00000255882 | 21165254 | 21165320 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PI4KA |
| 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 |
| ENST00000255882 | 6769 | 2102 | 21165254 | 21165320 | 1093 | 1158 | 335 | 357 |
| ENST00000255882 | 6769 | 2102 | 21153958 | 21154054 | 1812 | 1907 | 575 | 606 |
| ENST00000255882 | 6769 | 2102 | 21104192 | 21104282 | 3241 | 3330 | 1051 | 1081 |
| ENST00000255882 | 6769 | 2102 | 21098915 | 21099008 | 3451 | 3543 | 1121 | 1152 |
| ENST00000255882 | 6769 | 2102 | 21088682 | 21088841 | 3829 | 3987 | 1247 | 1300 |
| ENST00000255882 | 6769 | 2102 | 21084179 | 21084299 | 4376 | 4495 | 1429 | 1469 |
| ENST00000255882 | 6769 | 2102 | 21081517 | 21081685 | 4861 | 5028 | 1591 | 1647 |
| ENST00000255882 | 6769 | 2102 | 21080775 | 21080829 | 5029 | 5082 | 1647 | 1665 |
| ENST00000255882 | 6769 | 2102 | 21066980 | 21067085 | 5659 | 5763 | 1857 | 1892 |
| ENST00000255882 | 6769 | 2102 | 21066773 | 21066899 | 5764 | 5889 | 1892 | 1934 |
| ENST00000255882 | 6769 | 2102 | 21064195 | 21064285 | 6171 | 6260 | 2028 | 2057 |
| 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 |
| ENST00000255882 | 6769 | 2102 | 21165254 | 21165320 | 1093 | 1158 | 335 | 357 |
| ENST00000255882 | 6769 | 2102 | 21153958 | 21154054 | 1812 | 1907 | 575 | 606 |
| ENST00000255882 | 6769 | 2102 | 21104192 | 21104282 | 3241 | 3330 | 1051 | 1081 |
| ENST00000255882 | 6769 | 2102 | 21098915 | 21099008 | 3451 | 3543 | 1121 | 1152 |
| ENST00000255882 | 6769 | 2102 | 21088682 | 21088841 | 3829 | 3987 | 1247 | 1300 |
| ENST00000255882 | 6769 | 2102 | 21084179 | 21084299 | 4376 | 4495 | 1429 | 1469 |
| ENST00000255882 | 6769 | 2102 | 21081517 | 21081685 | 4861 | 5028 | 1591 | 1647 |
| ENST00000255882 | 6769 | 2102 | 21080775 | 21080829 | 5029 | 5082 | 1647 | 1665 |
| ENST00000255882 | 6769 | 2102 | 21066980 | 21067085 | 5659 | 5763 | 1857 | 1892 |
| ENST00000255882 | 6769 | 2102 | 21066773 | 21066899 | 5764 | 5889 | 1892 | 1934 |
| ENST00000255882 | 6769 | 2102 | 21064195 | 21064285 | 6171 | 6260 | 2028 | 2057 |
| 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 |
| P42356 | 335 | 357 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 335 | 357 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 575 | 606 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 575 | 606 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1051 | 1081 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1051 | 1081 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1121 | 1152 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1121 | 1152 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1247 | 1300 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1247 | 1300 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1429 | 1469 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1429 | 1469 | 1436 | 1436 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:23186163,PMID:24275569 |
| P42356 | 1591 | 1647 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1591 | 1647 | 1530 | 1718 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42356 | 1647 | 1665 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1647 | 1665 | 1530 | 1718 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42356 | 1857 | 1892 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1857 | 1892 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| P42356 | 1892 | 1934 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1892 | 1934 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| P42356 | 2028 | 2057 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 2028 | 2057 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| 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 |
| P42356 | 335 | 357 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 335 | 357 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 575 | 606 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 575 | 606 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1051 | 1081 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1051 | 1081 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1121 | 1152 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1121 | 1152 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1247 | 1300 | 1 | 1248 | Alternative sequence | ID=VSP_008805;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7961848;Dbxref=PMID:7961848 |
| P42356 | 1247 | 1300 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1429 | 1469 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1429 | 1469 | 1436 | 1436 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:23186163,PMID:24275569 |
| P42356 | 1591 | 1647 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1591 | 1647 | 1530 | 1718 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42356 | 1647 | 1665 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1647 | 1665 | 1530 | 1718 | Domain | Note=PIK helical;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00878 |
| P42356 | 1857 | 1892 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1857 | 1892 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| P42356 | 1892 | 1934 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 1892 | 1934 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
| P42356 | 2028 | 2057 | 1 | 2102 | Chain | ID=PRO_0000088827;Note=Phosphatidylinositol 4-kinase alpha |
| P42356 | 2028 | 2057 | 1846 | 2079 | Domain | Note=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269 |
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SNVs in the skipped exons for PI4KA |
| - 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. |
PI4KA_KIRC_exon_skip_367711_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 |
| LGG | TCGA-P5-A733-01 | exon_skip_367661 | 21064196 | 21064285 | 21064202 | 21064202 | Frame_Shift_Del | A | - | p.L2057fs |
| SARC | TCGA-DX-A6BA-01 | exon_skip_367661 | 21064196 | 21064285 | 21064210 | 21064213 | Frame_Shift_Del | TGTC | - | p.QT2052fs |
| THYM | TCGA-ZB-A96A-01 | exon_skip_367661 | 21064196 | 21064285 | 21064210 | 21064213 | Frame_Shift_Del | TGTC | - | p.QT2052fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_367678 | 21065629 | 21065749 | 21065746 | 21065746 | Frame_Shift_Del | G | - | p.R1936fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367693 | 21081518 | 21081685 | 21081608 | 21081608 | Frame_Shift_Del | T | - | p.P1618fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_367696 | 21084180 | 21084299 | 21084216 | 21084216 | Frame_Shift_Del | G | - | p.L1458fs |
| COAD | TCGA-AA-3492-01 | exon_skip_367701 | 21088683 | 21088841 | 21088700 | 21088700 | Frame_Shift_Del | G | - | p.H47fs |
| COAD | TCGA-AD-6889-01 | exon_skip_367701 | 21088683 | 21088841 | 21088713 | 21088713 | Frame_Shift_Del | G | - | p.E43fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367701 | 21088683 | 21088841 | 21088754 | 21088754 | Frame_Shift_Del | G | - | p.L1277fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367701 | 21088683 | 21088841 | 21088781 | 21088781 | Frame_Shift_Del | A | - | p.S1268fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_367701 | 21088683 | 21088841 | 21088794 | 21088794 | Frame_Shift_Del | T | - | p.K1263fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_367724 | 21192903 | 21193019 | 21192924 | 21192924 | Frame_Shift_Del | A | - | p.F84fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_367698 | 21087259 | 21087386 | 21087260 | 21087261 | Frame_Shift_Ins | - | G | p.P1429fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_367701 | 21088683 | 21088841 | 21088699 | 21088700 | Frame_Shift_Ins | - | G | p.H47fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_367701 | 21088683 | 21088841 | 21088724 | 21088725 | Frame_Shift_Ins | - | T | p.NL1286fs |
| BRCA | TCGA-BH-A0AY-01 | exon_skip_367701 | 21088683 | 21088841 | 21088763 | 21088764 | Frame_Shift_Ins | - | T | p.A1215fs |
| COAD | TCGA-AA-A01Q-01 | exon_skip_367724 | 21192903 | 21193019 | 21192923 | 21192924 | Frame_Shift_Ins | - | A | p.L27fs |
| COAD | TCGA-CK-5916-01 | exon_skip_367688 | 21068916 | 21068988 | 21068920 | 21068920 | Nonsense_Mutation | G | A | p.Q548X |
| CESC | TCGA-JX-A3Q0-01 | exon_skip_367690 | 21075586 | 21075706 | 21075635 | 21075635 | Nonsense_Mutation | C | T | p.W1689* |
| UCEC | TCGA-D1-A17U-01 | exon_skip_367713 | 21150434 | 21150602 | 21150475 | 21150475 | Nonsense_Mutation | G | A | p.R688* |
| KIRC | TCGA-BP-4987-01 | exon_skip_367711 | 21104193 | 21104282 | 21104191 | 21104191 | Splice_Site | A | G | . |
| STAD | TCGA-HU-A4G9-01 | exon_skip_367723 | 21188850 | 21188943 | 21188945 | 21188946 | Splice_Site | - | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BP-4987-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_367711 | |
| Skipped exon start: 21104193 | |
| Skipped exon end: 21104282 | |
| Mutation start: 21104191 | |
| Mutation end: 21104191 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_367711_KIRC_TCGA-BP-4987-01.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 |
| SNUC2A_LARGE_INTESTINE | 21188850 | 21188943 | 21188871 | 21188872 | Frame_Shift_Ins | - | GTGCG | p.S58fs |
| HCC1359_LUNG | 21064196 | 21064285 | 21064271 | 21064271 | Missense_Mutation | G | A | p.A1975V |
| HPAC_PANCREAS | 21064196 | 21064285 | 21064271 | 21064271 | Missense_Mutation | G | A | p.A1975V |
| MDAMB157_BREAST | 21065629 | 21065749 | 21065690 | 21065690 | Missense_Mutation | C | A | p.Q1896H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21065629 | 21065749 | 21065746 | 21065746 | Missense_Mutation | G | A | p.R1878C |
| LOVO_LARGE_INTESTINE | 21065629 | 21065749 | 21065746 | 21065746 | Missense_Mutation | G | A | p.R1878C |
| RL952_ENDOMETRIUM | 21065629 | 21065749 | 21065746 | 21065746 | Missense_Mutation | G | A | p.R1878C |
| NCIH1385_LUNG | 21066774 | 21066899 | 21066811 | 21066811 | Missense_Mutation | C | A | p.R1864L |
| JHH5_LIVER | 21066981 | 21067085 | 21067006 | 21067006 | Missense_Mutation | T | C | p.Y1826C |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21066981 | 21067085 | 21067006 | 21067006 | Missense_Mutation | T | C | p.Y1826C |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21066981 | 21067085 | 21067006 | 21067006 | Missense_Mutation | T | C | p.Y1826C |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 21066981 | 21067085 | 21067006 | 21067006 | Missense_Mutation | T | C | p.Y1826C |
| AGS_STOMACH | 21066981 | 21067085 | 21067061 | 21067061 | Missense_Mutation | C | T | p.D1808N |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21068916 | 21068988 | 21068925 | 21068925 | Missense_Mutation | G | A | p.P1736L |
| SNU324_PANCREAS | 21068916 | 21068988 | 21068982 | 21068982 | Missense_Mutation | T | C | p.Y1717C |
| NCIH1651_LUNG | 21080786 | 21080829 | 21080799 | 21080799 | Missense_Mutation | C | A | p.V1600L |
| NCIH1651_LUNG | 21080776 | 21080829 | 21080799 | 21080799 | Missense_Mutation | C | A | p.V1600L |
| HEC151_ENDOMETRIUM | 21081518 | 21081685 | 21081532 | 21081532 | Missense_Mutation | G | A | p.R1585W |
| HCT15_LARGE_INTESTINE | 21081518 | 21081685 | 21081601 | 21081601 | Missense_Mutation | C | A | p.G1562C |
| HRT18_LARGE_INTESTINE | 21081518 | 21081685 | 21081601 | 21081601 | Missense_Mutation | C | A | p.G1562C |
| SKOV3_OVARY | 21082062 | 21082152 | 21082105 | 21082105 | Missense_Mutation | C | T | p.R1519Q |
| HCT15_LARGE_INTESTINE | 21082062 | 21082152 | 21082115 | 21082115 | Missense_Mutation | G | A | p.R1516C |
| HEC59_ENDOMETRIUM | 21084180 | 21084299 | 21084198 | 21084198 | Missense_Mutation | T | C | p.T1406A |
| OVK18_OVARY | 21084180 | 21084299 | 21084227 | 21084227 | Missense_Mutation | T | C | p.N1396S |
| SW684_SOFT_TISSUE | 21087259 | 21087386 | 21087264 | 21087264 | Missense_Mutation | G | A | p.P1370L |
| NCIH1437_LUNG | 21087259 | 21087386 | 21087310 | 21087310 | Missense_Mutation | C | G | p.A1355P |
| GP2D_LARGE_INTESTINE | 21087259 | 21087386 | 21087376 | 21087376 | Missense_Mutation | T | C | p.K1333E |
| GP5D_LARGE_INTESTINE | 21087259 | 21087386 | 21087376 | 21087376 | Missense_Mutation | T | C | p.K1333E |
| HCC1395_MATCHED_NORMAL_TISSUE | 21088683 | 21088841 | 21088773 | 21088773 | Missense_Mutation | C | G | p.E1212D |
| GP2D_LARGE_INTESTINE | 21088683 | 21088841 | 21088835 | 21088835 | Missense_Mutation | G | A | p.R1192W |
| GP5D_LARGE_INTESTINE | 21088683 | 21088841 | 21088835 | 21088835 | Missense_Mutation | G | A | p.R1192W |
| SKUT1_SOFT_TISSUE | 21098916 | 21099008 | 21098923 | 21098923 | Missense_Mutation | G | A | p.A1092V |
| SNU1040_LARGE_INTESTINE | 21098916 | 21099008 | 21098936 | 21098936 | Missense_Mutation | G | A | p.R1088C |
| MFE296_ENDOMETRIUM | 21098916 | 21099008 | 21098989 | 21098989 | Missense_Mutation | C | T | p.R1070H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21104193 | 21104282 | 21104218 | 21104218 | Missense_Mutation | G | T | p.P1015H |
| MDAPCA2B_PROSTATE | 21104193 | 21104282 | 21104230 | 21104230 | Missense_Mutation | A | G | p.M1011T |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21104193 | 21104282 | 21104258 | 21104258 | Missense_Mutation | G | A | p.R1002C |
| NCIH28_PLEURA | 21104193 | 21104282 | 21104264 | 21104264 | Missense_Mutation | C | T | p.A1000T |
| SNUC5_LARGE_INTESTINE | 21104193 | 21104282 | 21104264 | 21104264 | Missense_Mutation | C | T | p.A1000T |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21104193 | 21104282 | 21104267 | 21104267 | Missense_Mutation | A | T | p.F999I |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21104193 | 21104282 | 21104267 | 21104267 | Missense_Mutation | A | T | p.F999I |
| 639V_URINARY_TRACT | 21153959 | 21154054 | 21153986 | 21153986 | Missense_Mutation | C | T | p.R540Q |
| LNCAPCLONEFGC_PROSTATE | 21153959 | 21154054 | 21154016 | 21154016 | Missense_Mutation | A | G | p.V530A |
| MCF7_BREAST | 21153959 | 21154054 | 21154027 | 21154027 | Missense_Mutation | G | C | p.D526E |
| NCIH1435_LUNG | 21153959 | 21154054 | 21154040 | 21154040 | Missense_Mutation | C | A | p.G522V |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 21161650 | 21161746 | 21161661 | 21161661 | Missense_Mutation | T | C | p.Y328C |
| HEC1A_ENDOMETRIUM | 21161650 | 21161746 | 21161673 | 21161673 | Missense_Mutation | C | T | p.R324H |
| HEC1_ENDOMETRIUM | 21161650 | 21161746 | 21161673 | 21161673 | Missense_Mutation | C | T | p.R324H |
| HEC1B_ENDOMETRIUM | 21161650 | 21161746 | 21161673 | 21161673 | Missense_Mutation | C | T | p.R324H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21165255 | 21165320 | 21165265 | 21165265 | Missense_Mutation | C | T | p.S296N |
| DU145_PROSTATE | 21165255 | 21165320 | 21165278 | 21165278 | Missense_Mutation | C | T | p.A292T |
| NCCSTCK140_STOMACH | 21165255 | 21165320 | 21165286 | 21165286 | Missense_Mutation | G | A | p.S289F |
| SNU407_LARGE_INTESTINE | 21167646 | 21167794 | 21167705 | 21167705 | Missense_Mutation | C | T | p.G258S |
| EN_ENDOMETRIUM | 21188850 | 21188943 | 21188889 | 21188889 | Missense_Mutation | C | T | p.V52M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 21188850 | 21188943 | 21188903 | 21188903 | Missense_Mutation | T | C | p.K47R |
| SNU81_LARGE_INTESTINE | 21188850 | 21188943 | 21188912 | 21188912 | Missense_Mutation | C | T | p.R44Q |
| TO175T_FIBROBLAST | 21192903 | 21193019 | 21192913 | 21192913 | Missense_Mutation | G | C | p.S30C |
| HCC1438_LUNG | 21065629 | 21065749 | 21065630 | 21065630 | Splice_Site | G | T | p.I1916I |
| HEP3B217_LIVER | 21065629 | 21065749 | 21065630 | 21065630 | Splice_Site | G | T | p.I1916I |
| KM12_LARGE_INTESTINE | 21081518 | 21081685 | 21081519 | 21081519 | Splice_Site | G | A | p.P1589L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PI4KA |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4KA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4KA |
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RelatedDrugs for PI4KA |
| 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 PI4KA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PI4KA | C0036341 | Schizophrenia | 4 | PSYGENET |
| PI4KA | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| PI4KA | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| PI4KA | C4225295 | POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS | 1 | UNIPROT |
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