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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 PI4K2B |
 Gene summary |
| Gene information | Gene symbol | PI4K2B | Gene ID | 55300 |
| Gene name | phosphatidylinositol 4-kinase type 2 beta | |
| Synonyms | PI4KIIB|PIK42B | |
| Cytomap | 4p15.2 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 4-kinase type 2-betaPI4KII-BETAphosphatidylinositol 4-kinase type-II beta | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TCG2 | |
| Context | PubMed: PI4K2B [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 PI4K2B 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 PI4K2B |
| 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 PI4K2B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422813 | 4 | 25162293:25162375:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENSG00000038210.9 | ENST00000512921.1 |
| exon_skip_422815 | 4 | 25235596:25236053:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENSG00000038210.9 | ENST00000264864.6 |
| exon_skip_422820 | 4 | 25258164:25258296:25260658:25260812:25262145:25262213 | 25260658:25260812 | ENSG00000038210.9 | ENST00000264864.6,ENST00000512921.1 |
| exon_skip_422824 | 4 | 25270064:25270198:25270765:25270825:25278635:25278928 | 25270765:25270825 | ENSG00000038210.9 | ENST00000264864.6,ENST00000512921.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PI4K2B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422813 | 4 | 25162293:25162375:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENSG00000038210.9 | ENST00000512921.1 |
| exon_skip_422815 | 4 | 25235596:25236053:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENSG00000038210.9 | ENST00000264864.6 |
| exon_skip_422820 | 4 | 25258164:25258296:25260658:25260812:25262145:25262213 | 25260658:25260812 | ENSG00000038210.9 | ENST00000512921.1,ENST00000264864.6 |
| exon_skip_422824 | 4 | 25270064:25270198:25270765:25270825:25278635:25278928 | 25270765:25270825 | ENSG00000038210.9 | ENST00000512921.1,ENST00000264864.6 |
| 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 PI4K2B |
| 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 |
| ENST00000264864 | 25253942 | 25254097 | Frame-shift |
| ENST00000264864 | 25260658 | 25260812 | Frame-shift |
| ENST00000264864 | 25270765 | 25270825 | 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 |
| ENST00000264864 | 25253942 | 25254097 | Frame-shift |
| ENST00000264864 | 25260658 | 25260812 | Frame-shift |
| ENST00000264864 | 25270765 | 25270825 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PI4K2B |
| 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 |
| ENST00000264864 | 3557 | 481 | 25270765 | 25270825 | 1402 | 1461 | 404 | 424 |
| 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 |
| ENST00000264864 | 3557 | 481 | 25270765 | 25270825 | 1402 | 1461 | 404 | 424 |
| 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 |
| Q8TCG2 | 404 | 424 | 1 | 481 | Chain | ID=PRO_0000285164;Note=Phosphatidylinositol 4-kinase type 2-beta |
| Q8TCG2 | 404 | 424 | 129 | 436 | Domain | Note=PI3K/PI4K |
| Q8TCG2 | 404 | 424 | 411 | 433 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WTV |
| 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 |
| Q8TCG2 | 404 | 424 | 1 | 481 | Chain | ID=PRO_0000285164;Note=Phosphatidylinositol 4-kinase type 2-beta |
| Q8TCG2 | 404 | 424 | 129 | 436 | Domain | Note=PI3K/PI4K |
| Q8TCG2 | 404 | 424 | 411 | 433 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4WTV |
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SNVs in the skipped exons for PI4K2B |
| - 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-DD-A39Y-01 | exon_skip_422820 | 25260659 | 25260812 | 25260751 | 25260751 | Frame_Shift_Del | A | - | p.R283fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_422820 | 25260659 | 25260812 | 25260786 | 25260786 | Frame_Shift_Del | T | - | p.I295fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_422824 | 25270766 | 25270825 | 25270784 | 25270784 | Frame_Shift_Del | A | - | p.K411fs |
| BLCA | TCGA-FD-A3SN-01 | exon_skip_422813 exon_skip_422815 | 25253943 | 25254097 | 25253958 | 25253958 | Nonsense_Mutation | C | A | p.S95* |
| ESCA | TCGA-L5-A891-01 | exon_skip_422813 exon_skip_422815 | 25253943 | 25254097 | 25254044 | 25254044 | Nonsense_Mutation | G | T | p.E124* |
| - 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 |
| H290_PLEURA | 25253943 | 25254097 | 25253974 | 25253974 | Missense_Mutation | C | A | p.F100L |
| SNGM_ENDOMETRIUM | 25253943 | 25254097 | 25254094 | 25254094 | Missense_Mutation | G | T | p.K140N |
| NUGC3_STOMACH | 25260659 | 25260812 | 25260777 | 25260777 | Missense_Mutation | G | A | p.R292K |
| ETK1_BILIARY_TRACT | 25260659 | 25260812 | 25260777 | 25260777 | Missense_Mutation | G | A | p.R292K |
| KP4_PANCREAS | 25260659 | 25260812 | 25260777 | 25260777 | Missense_Mutation | G | A | p.R292K |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 25260659 | 25260812 | 25260777 | 25260777 | Missense_Mutation | G | A | p.R292K |
| L542_MATCHED_NORMAL_TISSUE | 25260659 | 25260812 | 25260777 | 25260777 | Missense_Mutation | G | A | p.R292K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 25270766 | 25270825 | 25270790 | 25270790 | Missense_Mutation | A | G | p.T413A |
| MELJUSO_SKIN | 25260659 | 25260812 | 25260706 | 25260706 | Nonsense_Mutation | T | G | p.Y268* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PI4K2B |
| 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_422813 | 4 | 25162293:25162375:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENST00000512921.1 | LGG | rs313567 | chr4:25253995 | C/T | 1.90e-04 |
| exon_skip_422815 | 4 | 25235596:25236053:25253942:25254097:25256686:25256887 | 25253942:25254097 | ENST00000264864.6 | LGG | rs313567 | chr4:25253995 | C/T | 1.90e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4K2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PI4K2B |
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RelatedDrugs for PI4K2B |
| 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 PI4K2B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PI4K2B | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| PI4K2B | C0036341 | Schizophrenia | 1 | PSYGENET |
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