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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 PIK3R1 |
 Gene summary |
| Gene information | Gene symbol | PIK3R1 | Gene ID | 5295 |
| Gene name | phosphoinositide-3-kinase regulatory subunit 1 | |
| Synonyms | AGM7|GRB1|IMD36|p85|p85-ALPHA | |
| Cytomap | 5q13.1 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph | |
| Modification date | 20180523 | |
| UniProtAcc | P27986 | |
| Context | PubMed: PIK3R1 [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 |
| PIK3R1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7782332 |
| PIK3R1 | GO:0034976 | response to endoplasmic reticulum stress | 20348923 |
| PIK3R1 | GO:0042307 | positive regulation of protein import into nucleus | 20348923 |
| PIK3R1 | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7782332 |
| PIK3R1 | GO:0050821 | protein stabilization | 20348923 |
| PIK3R1 | GO:0060396 | growth hormone receptor signaling pathway | 7782332 |
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Exon skipping events across known transcript of Ensembl for PIK3R1 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 PIK3R1 |
| 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 PIK3R1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435157 | 5 | 67522461:67522837:67569217:67569310:67569766:67569841 | 67569217:67569310 | ENSG00000145675.10 | ENST00000521381.1,ENST00000521657.1,ENST00000274335.5,ENST00000396611.1 |
| exon_skip_435160 | 5 | 67569217:67569310:67569766:67569841:67575429:67575561 | 67569766:67569841 | ENSG00000145675.10 | ENST00000521381.1,ENST00000520675.1,ENST00000521657.1,ENST00000274335.5,ENST00000396611.1 |
| exon_skip_435161 | 5 | 67584522:67584579:67588086:67588189:67588928:67589027 | 67588086:67588189 | ENSG00000145675.10 | ENST00000320694.8 |
| exon_skip_435163 | 5 | 67586509:67586662:67588086:67588189:67588928:67589027 | 67588086:67588189 | ENSG00000145675.10 | ENST00000336483.5,ENST00000518292.1 |
| exon_skip_435166 | 5 | 67589130:67589311:67589536:67589662:67590363:67590440 | 67589536:67589662 | ENSG00000145675.10 | ENST00000519025.1,ENST00000520550.1,ENST00000521381.1,ENST00000336483.5,ENST00000523872.1,ENST00000521409.1,ENST00000517698.1,ENST00000320694.8,ENST00000521657.1,ENST00000274335.5,ENST00000396611.1,ENST00000518813.1 |
| exon_skip_435167 | 5 | 67590975:67591152:67591247:67591316:67591998:67592169 | 67591247:67591316 | ENSG00000145675.10 | ENST00000521381.1,ENST00000336483.5,ENST00000523872.1,ENST00000320694.8,ENST00000521657.1,ENST00000274335.5,ENST00000518813.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIK3R1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435157 | 5 | 67522461:67522837:67569217:67569310:67569766:67569841 | 67569217:67569310 | ENSG00000145675.10 | ENST00000521381.1,ENST00000521657.1,ENST00000396611.1,ENST00000274335.5 |
| exon_skip_435160 | 5 | 67569217:67569310:67569766:67569841:67575429:67575561 | 67569766:67569841 | ENSG00000145675.10 | ENST00000521381.1,ENST00000521657.1,ENST00000396611.1,ENST00000274335.5,ENST00000520675.1 |
| exon_skip_435161 | 5 | 67584522:67584579:67588086:67588189:67588928:67589027 | 67588086:67588189 | ENSG00000145675.10 | ENST00000320694.8 |
| exon_skip_435163 | 5 | 67586509:67586662:67588086:67588189:67588928:67589027 | 67588086:67588189 | ENSG00000145675.10 | ENST00000336483.5,ENST00000518292.1 |
| exon_skip_435166 | 5 | 67589130:67589311:67589536:67589662:67590363:67590440 | 67589536:67589662 | ENSG00000145675.10 | ENST00000521381.1,ENST00000521657.1,ENST00000396611.1,ENST00000274335.5,ENST00000320694.8,ENST00000521409.1,ENST00000336483.5,ENST00000517698.1,ENST00000518813.1,ENST00000519025.1,ENST00000523872.1,ENST00000520550.1 |
| exon_skip_435167 | 5 | 67590975:67591152:67591247:67591316:67591998:67592169 | 67591247:67591316 | ENSG00000145675.10 | ENST00000521381.1,ENST00000521657.1,ENST00000274335.5,ENST00000320694.8,ENST00000336483.5,ENST00000518813.1,ENST00000523872.1 |
| 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 PIK3R1 |
| 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 |
| ENST00000521381 | 67569217 | 67569310 | In-frame |
| ENST00000521657 | 67569217 | 67569310 | In-frame |
| ENST00000521381 | 67569766 | 67569841 | In-frame |
| ENST00000521657 | 67569766 | 67569841 | In-frame |
| ENST00000521381 | 67589536 | 67589662 | In-frame |
| ENST00000521657 | 67589536 | 67589662 | In-frame |
| ENST00000521381 | 67591247 | 67591316 | In-frame |
| ENST00000521657 | 67591247 | 67591316 | 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 |
| ENST00000521381 | 67569217 | 67569310 | In-frame |
| ENST00000521657 | 67569217 | 67569310 | In-frame |
| ENST00000521381 | 67569766 | 67569841 | In-frame |
| ENST00000521657 | 67569766 | 67569841 | In-frame |
| ENST00000521381 | 67589536 | 67589662 | In-frame |
| ENST00000521657 | 67589536 | 67589662 | In-frame |
| ENST00000521381 | 67591247 | 67591316 | In-frame |
| ENST00000521657 | 67591247 | 67591316 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIK3R1 |
| 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 |
| ENST00000521381 | 7028 | 724 | 67569217 | 67569310 | 951 | 1043 | 111 | 142 |
| ENST00000521657 | 3908 | 724 | 67569217 | 67569310 | 899 | 991 | 111 | 142 |
| ENST00000521381 | 7028 | 724 | 67569766 | 67569841 | 1044 | 1118 | 142 | 167 |
| ENST00000521657 | 3908 | 724 | 67569766 | 67569841 | 992 | 1066 | 142 | 167 |
| ENST00000521381 | 7028 | 724 | 67589536 | 67589662 | 1916 | 2041 | 433 | 475 |
| ENST00000521657 | 3908 | 724 | 67589536 | 67589662 | 1864 | 1989 | 433 | 475 |
| ENST00000521381 | 7028 | 724 | 67591247 | 67591316 | 2362 | 2430 | 582 | 604 |
| ENST00000521657 | 3908 | 724 | 67591247 | 67591316 | 2310 | 2378 | 582 | 604 |
| 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 |
| ENST00000521381 | 7028 | 724 | 67569217 | 67569310 | 951 | 1043 | 111 | 142 |
| ENST00000521657 | 3908 | 724 | 67569217 | 67569310 | 899 | 991 | 111 | 142 |
| ENST00000521381 | 7028 | 724 | 67569766 | 67569841 | 1044 | 1118 | 142 | 167 |
| ENST00000521657 | 3908 | 724 | 67569766 | 67569841 | 992 | 1066 | 142 | 167 |
| ENST00000521381 | 7028 | 724 | 67589536 | 67589662 | 1916 | 2041 | 433 | 475 |
| ENST00000521657 | 3908 | 724 | 67589536 | 67589662 | 1864 | 1989 | 433 | 475 |
| ENST00000521381 | 7028 | 724 | 67591247 | 67591316 | 2362 | 2430 | 582 | 604 |
| ENST00000521657 | 3908 | 724 | 67591247 | 67591316 | 2310 | 2378 | 582 | 604 |
| 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 PIK3R1 |
| - 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. |
PIK3R1_COAD_exon_skip_435166_psi_boxplot.png |
PIK3R1_COAD_exon_skip_435167_psi_boxplot.png |
PIK3R1_SKCM_exon_skip_435166_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 |
| UCEC | TCGA-BS-A0UA-01 | exon_skip_435160 | 67569767 | 67569841 | 67569797 | 67569798 | Frame_Shift_Del | AG | - | p.S154fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435166 | 67589537 | 67589662 | 67589576 | 67589576 | Frame_Shift_Del | A | - | p.K448fs |
| STAD | TCGA-BR-4184-01 | exon_skip_435166 | 67589537 | 67589662 | 67589576 | 67589576 | Frame_Shift_Del | A | - | p.G446fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589583 | 67589586 | Frame_Shift_Del | TACA | - | p.H450fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589583 | 67589586 | Frame_Shift_Del | TACA | - | p.L449fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_435166 | 67589537 | 67589662 | 67589589 | 67589595 | Frame_Shift_Del | AATATAA | - | p.451_453del |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589590 | 67589593 | Frame_Shift_Del | ATAT | - | p.E451fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589590 | 67589593 | Frame_Shift_Del | ATAT | - | p.Y452fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589598 | 67589604 | Frame_Shift_Del | CTCAGTT | - | p.T454fs |
| UCEC | TCGA-BS-A0TD-01 | exon_skip_435166 | 67589537 | 67589662 | 67589610 | 67589610 | Frame_Shift_Del | A | - | p.E458fs |
| UCEC | TCGA-B5-A0K1-01 | exon_skip_435166 | 67589537 | 67589662 | 67589620 | 67589620 | Frame_Shift_Del | A | - | p.E462fs |
| UCEC | TCGA-B5-A0K1-01 | exon_skip_435166 | 67589537 | 67589662 | 67589620 | 67589620 | Frame_Shift_Del | A | - | p.R461fs |
| UCEC | TCGA-B5-A0K1-01 | exon_skip_435166 | 67589537 | 67589662 | 67589622 | 67589623 | Frame_Shift_Del | AA | - | p.E462fs |
| LGG | TCGA-DU-7300-01 | exon_skip_435166 | 67589537 | 67589662 | 67589623 | 67589624 | Frame_Shift_Del | AT | - | p.462_462del |
| LGG | TCGA-DU-7300-01 | exon_skip_435166 | 67589537 | 67589662 | 67589623 | 67589624 | Frame_Shift_Del | AT | - | p.EY462fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_435166 | 67589537 | 67589662 | 67589630 | 67589646 | Frame_Shift_Del | AGATTATATGAAGAATA | - | p.R465fs |
| COAD | TCGA-DM-A1DB-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591257 | Frame_Shift_Del | GTTTTTCAGGTG | - | p.582_583del |
| UCEC | TCGA-B5-A11J-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591273 | Frame_Shift_Del | TCAAAACTGTTTTTCAGGTGGTTGACTC | - | p.M583fs |
| UCEC | TCGA-D1-A169-01 | exon_skip_435167 | 67591248 | 67591316 | 67591310 | 67591318 | Frame_Shift_Del | CTGAAGAGT | - | p.E604fs |
| KIRP | TCGA-P4-A5E7-01 | exon_skip_435163 exon_skip_435161 | 67588087 | 67588189 | 67588157 | 67588158 | Frame_Shift_Ins | - | G | p.Q329fs |
| COAD | TCGA-A6-6780-01 | exon_skip_435166 | 67589537 | 67589662 | 67589609 | 67589610 | Frame_Shift_Ins | - | A | p.E188fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_435166 | 67589537 | 67589662 | 67589609 | 67589610 | Frame_Shift_Ins | - | A | p.E458fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_435166 | 67589537 | 67589662 | 67589609 | 67589610 | Frame_Shift_Ins | - | A | p.K458fs |
| UCEC | TCGA-A5-A0GU-01 | exon_skip_435167 | 67591248 | 67591316 | 67591270 | 67591271 | Frame_Shift_Ins | - | G | p.Q591fs |
| UCEC | TCGA-A5-A0GU-01 | exon_skip_435167 | 67591248 | 67591316 | 67591270 | 67591271 | Frame_Shift_Ins | - | G | p.R590fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_435160 | 67569767 | 67569841 | 67569823 | 67569823 | Nonsense_Mutation | C | T | p.R162* |
| STAD | TCGA-HU-A4GU-01 | exon_skip_435160 | 67569767 | 67569841 | 67569823 | 67569823 | Nonsense_Mutation | C | T | p.R162X |
| ESCA | TCGA-LN-A8I0-01 | exon_skip_435163 exon_skip_435161 | 67588087 | 67588189 | 67588172 | 67588172 | Nonsense_Mutation | C | A | p.Y334* |
| ESCA | TCGA-LN-A8I0-01 | exon_skip_435163 exon_skip_435161 | 67588087 | 67588189 | 67588172 | 67588172 | Nonsense_Mutation | C | A | p.Y334X |
| COAD | TCGA-AZ-4315-01 | exon_skip_435166 | 67589537 | 67589662 | 67589618 | 67589618 | Nonsense_Mutation | C | T | p.R461X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_435166 | 67589537 | 67589662 | 67589618 | 67589618 | Nonsense_Mutation | C | T | p.R461* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_435166 | 67589537 | 67589662 | 67589618 | 67589618 | Nonsense_Mutation | C | T | p.R461* |
| LUAD | TCGA-44-6776-01 | exon_skip_435166 | 67589537 | 67589662 | 67589621 | 67589621 | Nonsense_Mutation | G | T | p.E462* |
| SKCM | TCGA-EE-A20H-06 | exon_skip_435166 | 67589537 | 67589662 | 67589626 | 67589626 | Nonsense_Mutation | T | G | p.Y463* |
| SKCM | TCGA-EE-A20H-06 | exon_skip_435166 | 67589537 | 67589662 | 67589626 | 67589626 | Nonsense_Mutation | T | G | p.Y463X |
| COAD | TCGA-D5-6922-01 | exon_skip_435166 | 67589537 | 67589662 | 67589634 | 67589634 | Nonsense_Mutation | T | G | p.L466X |
| HNSC | TCGA-CN-4729-01 | exon_skip_435167 | 67591248 | 67591316 | 67591278 | 67591279 | Nonsense_Mutation | GA | CT | p.592_593KK>N* |
| HNSC | TCGA-CN-4729-01 | exon_skip_435167 | 67591248 | 67591316 | 67591279 | 67591279 | Nonsense_Mutation | A | T | p.K593* |
| UCEC | TCGA-D1-A17M-01 | exon_skip_435160 | 67569767 | 67569841 | 67569842 | 67569845 | Splice_Site | GTGA | - | e3+1 |
| UCEC | TCGA-D1-A17M-01 | exon_skip_435160 | 67569767 | 67569841 | 67569842 | 67569845 | Splice_Site | GTGA | - | p.D168_splice |
| THYM | TCGA-XM-A8RD-01 | exon_skip_435163 exon_skip_435161 | 67588087 | 67588189 | 67588086 | 67588086 | Splice_Site | G | A | . |
| THYM | TCGA-XM-A8RD-01 | exon_skip_435163 exon_skip_435161 | 67588087 | 67588189 | 67588086 | 67588086 | Splice_Site | G | A | e7-1 |
| SKCM | TCGA-EE-A20H-06 | exon_skip_435166 | 67589537 | 67589662 | 67589536 | 67589536 | Splice_Site | G | A | . |
| STAD | TCGA-D7-8572-01 | exon_skip_435166 | 67589537 | 67589662 | 67589663 | 67589663 | Splice_Site | G | A | . |
| STAD | TCGA-D7-8572-01 | exon_skip_435166 | 67589537 | 67589662 | 67589663 | 67589663 | Splice_Site | G | A | p.Q475_splice |
| SKCM | TCGA-FS-A1ZN-01 | exon_skip_435166 | 67589537 | 67589662 | 67589664 | 67589664 | Splice_Site | T | G | . |
| COAD | TCGA-G4-6309-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | . |
| GBM | TCGA-06-0750-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | p.M582_splice |
| GBM | TCGA-19-5955-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | p.M582_splice |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | e13-2 |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | p.M582_splice |
| UCEC | TCGA-D1-A163-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | e13-2 |
| UCEC | TCGA-D1-A163-01 | exon_skip_435167 | 67591248 | 67591316 | 67591246 | 67591246 | Splice_Site | A | G | p.M582_splice |
| GBM | TCGA-26-5139-01 | exon_skip_435167 | 67591248 | 67591316 | 67591247 | 67591249 | Splice_Site | GGT | - | p.M582_splice |
| LGG | TCGA-DU-A7TB-01 | exon_skip_435167 | 67591248 | 67591316 | 67591247 | 67591249 | Splice_Site | GGT | - | p.R582_splice |
| UCEC | TCGA-D1-A169-01 | exon_skip_435167 | 67591248 | 67591316 | 67591310 | 67591318 | Splice_Site | CTGAAGAGT | - | p.D605_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D1-A0ZS-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_435167 | |
| Skipped exon start: 67591248 | |
| Skipped exon end: 67591316 | |
| Mutation start: 67591246 | |
| Mutation end: 67591246 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.M582_splice | |
| Sample: TCGA-D1-A0ZS-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_435167 | |
| Skipped exon start: 67591248 | |
| Skipped exon end: 67591316 | |
| Mutation start: 67591246 | |
| Mutation end: 67591246 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: e13-2 | |
exon_skip_435167_UCEC_TCGA-D1-A0ZS-01.png | |
exon_skip_74538_UCEC_TCGA-D1-A0ZS-01.png | |
exon_skip_94844_UCEC_TCGA-D1-A0ZS-01.png | |
 | Sample: TCGA-DM-A1DB-01 |
| Cancer type: COAD | |
| ESID: exon_skip_435167 | |
| Skipped exon start: 67591248 | |
| Skipped exon end: 67591316 | |
| Mutation start: 67591246 | |
| Mutation end: 67591257 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GTTTTTCAGGTG | |
| Mutation seq: - | |
| AAchange: p.582_583del | |
exon_skip_435167_COAD_TCGA-DM-A1DB-01.png | |
 | Sample: TCGA-EE-A20H-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_435166 | |
| Skipped exon start: 67589537 | |
| Skipped exon end: 67589662 | |
| Mutation start: 67589626 | |
| Mutation end: 67589626 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: T | |
| Mutation seq: G | |
| AAchange: p.Y463X | |
| Sample: TCGA-EE-A20H-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_435166 | |
| Skipped exon start: 67589537 | |
| Skipped exon end: 67589662 | |
| Mutation start: 67589626 | |
| Mutation end: 67589626 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: T | |
| Mutation seq: G | |
| AAchange: p.Y463* | |
| Sample: TCGA-EE-A20H-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_435166 | |
| Skipped exon start: 67589537 | |
| Skipped exon end: 67589662 | |
| Mutation start: 67589536 | |
| Mutation end: 67589536 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_435166_SKCM_TCGA-EE-A20H-06.png | |
 | Sample: TCGA-FS-A1ZN-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_435166 | |
| Skipped exon start: 67589537 | |
| Skipped exon end: 67589662 | |
| Mutation start: 67589664 | |
| Mutation end: 67589664 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_435166_SKCM_TCGA-FS-A1ZN-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 |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589574 | 67589587 | Frame_Shift_Del | GGAAAAAATTACAT | - | p.GKKLH446fs |
| CW2_LARGE_INTESTINE | 67589537 | 67589662 | 67589576 | 67589576 | Frame_Shift_Del | A | - | p.K448fs |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67589537 | 67589662 | 67589576 | 67589576 | Frame_Shift_Del | A | - | p.K448fs |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589585 | 67589585 | Frame_Shift_Del | C | - | p.H450fs |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589588 | 67589592 | Frame_Shift_Del | GAATA | - | p.EY451fs |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589592 | 67589592 | Frame_Shift_Del | A | - | p.Y452fs |
| HEC265_ENDOMETRIUM | 67591248 | 67591316 | 67591259 | 67591259 | Frame_Shift_Del | A | - | p.Q586fs |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589575 | 67589576 | Frame_Shift_Ins | - | A | p.K447fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67589537 | 67589662 | 67589591 | 67589592 | Frame_Shift_Ins | - | CTGG | p.Y452fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67589537 | 67589662 | 67589592 | 67589593 | Frame_Shift_Ins | - | GGGAG | p.YN452fs |
| HEC59_ENDOMETRIUM | 67589537 | 67589662 | 67589609 | 67589610 | Frame_Shift_Ins | - | A | p.E458fs |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589574 | 67589582 | In_Frame_Del | GGAAAAAAT | - | p.446_449GKKL>V |
| KNS81_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589580 | 67589582 | In_Frame_Del | AAT | - | p.448_449KL>I |
| KNS81FD_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589580 | 67589582 | In_Frame_Del | AAT | - | p.448_449KL>I |
| GI1_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589596 | 67589598 | In_Frame_Del | CAC | - | p.T454del |
| OVK18_OVARY | 67589537 | 67589662 | 67589599 | 67589604 | In_Frame_Del | TCAGTT | - | p.QF455del |
| GAMG_CENTRAL_NERVOUS_SYSTEM | 67589537 | 67589662 | 67589629 | 67589631 | In_Frame_Del | TAG | - | p.464_465DR>E |
| HS578T_BREAST | 67589537 | 67589662 | 67589591 | 67589592 | In_Frame_Ins | - | ATA | p.453_454insN |
| OVTOKO_OVARY | 67589537 | 67589662 | 67589593 | 67589594 | In_Frame_Ins | - | AAC | p.453_453N>NN |
| MESSA_SOFT_TISSUE | 67589537 | 67589662 | 67589628 | 67589629 | In_Frame_Ins | - | TAGATT | p.465_466insFR |
| LC1F_LUNG | 67569218 | 67569310 | 67569230 | 67569230 | Missense_Mutation | C | G | p.P116R |
| LC1SQSF_LUNG | 67569218 | 67569310 | 67569230 | 67569230 | Missense_Mutation | C | G | p.P116R |
| LC1SQ_LUNG | 67569218 | 67569310 | 67569230 | 67569230 | Missense_Mutation | C | G | p.P116R |
| MM426_SKIN | 67569218 | 67569310 | 67569259 | 67569259 | Missense_Mutation | G | C | p.D126H |
| HCT15_LARGE_INTESTINE | 67588087 | 67588189 | 67588105 | 67588105 | Missense_Mutation | C | T | p.P312L |
| HRT18_LARGE_INTESTINE | 67588087 | 67588189 | 67588105 | 67588105 | Missense_Mutation | C | T | p.P312L |
| HEC108_ENDOMETRIUM | 67588087 | 67588189 | 67588162 | 67588162 | Missense_Mutation | C | T | p.A331V |
| TE6_OESOPHAGUS | 67589537 | 67589662 | 67589609 | 67589609 | Missense_Mutation | G | A | p.E458K |
| JHUEM7_ENDOMETRIUM | 67589537 | 67589662 | 67589609 | 67589609 | Nonsense_Mutation | G | T | p.E458* |
| HCC2998_LARGE_INTESTINE | 67589537 | 67589662 | 67589618 | 67589618 | Nonsense_Mutation | C | T | p.R461* |
| SNU81_LARGE_INTESTINE | 67589537 | 67589662 | 67589618 | 67589618 | Nonsense_Mutation | C | T | p.R461* |
| SNU61_LARGE_INTESTINE | 67591248 | 67591316 | 67591293 | 67591293 | Nonsense_Mutation | G | A | p.W597* |
| RVH421_SKIN | 67589537 | 67589662 | 67589656 | 67589664 | Splice_Site | ATCCCAGGT | - | p.TSQ473del |
| TGBC24TKB_BILIARY_TRACT | 67591248 | 67591316 | 67591249 | 67591249 | Splice_Site | T | C | p.W583R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIK3R1 |
| 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 PIK3R1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIK3R1 |
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RelatedDrugs for PIK3R1 |
| 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 |
| P27986 | DB01064 | Isoprenaline | Phosphatidylinositol 3-kinase regulatory subunit alpha | small molecule | approved|investigational |
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RelatedDiseases for PIK3R1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PIK3R1 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
| PIK3R1 | C0878684 | SHORT syndrome | 2 | ORPHANET;UNIPROT |
| PIK3R1 | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| PIK3R1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| PIK3R1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| PIK3R1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
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