|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for PIP4K2A |
 Gene summary |
| Gene information | Gene symbol | PIP4K2A | Gene ID | 5305 |
| Gene name | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | |
| Synonyms | PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK | |
| Cytomap | 10p12.2 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 5-phosphate 4-kinase type-2 alpha1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha1-phosphatidylinositol-4-phosphate kinase1-phosphatidylinositol-4-phosphate-5-kinasePI(5)P 4-kinase type II alphaPIP4KII-alphaPIP5KIIIPIP5KIIal | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for PIP4K2A |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
 |
ENSG00000150867
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000604912.1 | PIP4K2A-207:protein_coding:PIP4K2A | 9.344579e+00 | 1.961313e+00 | 1.683982e-03 | 7.982310e-03 |
| TC | DOWN | ENST00000432610.1 | PIP4K2A-204:lncRNA:PIP4K2A | 4.154375e+00 | -9.044501e-01 | 2.153573e-04 | 2.966819e-03 |
| TC | UP | ENST00000604912.1 | PIP4K2A-207:protein_coding:PIP4K2A | 8.952409e+01 | 1.310794e+00 | 3.026442e-03 | 2.296097e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PIP4K2A |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_158243 | chr10 | 22573311:22573457:22591629:22591781:22607927:22608023 | 22591629:22591781 |
| exon_skip_158450 | chr10 | 22539971:22540074:22541804:22542047:22550659:22550772 | 22541804:22542047 |
| exon_skip_170552 | chr10 | 22539973:22540074:22541804:22542047:22550659:22550772 | 22541804:22542047 |
| exon_skip_173797 | chr10 | 22567851:22567889:22569013:22569054:22573311:22573457 | 22569013:22569054 |
| exon_skip_218359 | chr10 | 22591629:22591781:22607927:22608023:22609620:22609717 | 22607927:22608023 |
| exon_skip_248433 | chr10 | 22550746:22550772:22567851:22567889:22573311:22573457 | 22567851:22567889 |
| exon_skip_289054 | chr10 | 22550659:22550772:22567851:22567889:22573311:22573457 | 22567851:22567889 |
| exon_skip_35076 | chr10 | 22541952:22542047:22550659:22550772:22567851:22567889 | 22550659:22550772 |
| exon_skip_8156 | chr10 | 22567851:22567889:22569013:22569054:22573311:22573450 | 22569013:22569054 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PIP4K2A |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376573 | 22541804 | 22542047 | Frame-shift |
| ENST00000376573 | 22607927 | 22608023 | Frame-shift |
| ENST00000376573 | 22567851 | 22567889 | In-frame |
| ENST00000376573 | 22591629 | 22591781 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376573 | 22541804 | 22542047 | Frame-shift |
| ENST00000376573 | 22607927 | 22608023 | Frame-shift |
| ENST00000376573 | 22567851 | 22567889 | In-frame |
| ENST00000376573 | 22591629 | 22591781 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376573 | 22541804 | 22542047 | Frame-shift |
| ENST00000376573 | 22607927 | 22608023 | Frame-shift |
| ENST00000376573 | 22550659 | 22550772 | In-frame |
| ENST00000376573 | 22567851 | 22567889 | In-frame |
| ENST00000376573 | 22591629 | 22591781 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PIP4K2A |
p-ENSG00000150867_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000376573 | 3819 | 406 | 22591629 | 22591781 | 569 | 720 | 113 | 163 |
| ENST00000376573 | 3819 | 406 | 22567851 | 22567889 | 869 | 906 | 213 | 225 |
| Loci of skipped exons in MSBB 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 |
| ENST00000376573 | 3819 | 406 | 22591629 | 22591781 | 569 | 720 | 113 | 163 |
| ENST00000376573 | 3819 | 406 | 22567851 | 22567889 | 869 | 906 | 213 | 225 |
| Loci of skipped exons in Mayo 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 |
| ENST00000376573 | 3819 | 406 | 22591629 | 22591781 | 569 | 720 | 113 | 163 |
| ENST00000376573 | 3819 | 406 | 22567851 | 22567889 | 869 | 906 | 213 | 225 |
| ENST00000376573 | 3819 | 406 | 22550659 | 22550772 | 908 | 1020 | 226 | 263 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P48426 | 113 | 163 | 134 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 140 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 113 | 163 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 113 | 163 | 109 | 117 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 149 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 145 | 145 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48426 | 113 | 163 | 131 | 131 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with F-138. G->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 138 | 138 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with L-131. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 143 | 143 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48426 | 213 | 225 | 215 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 213 | 225 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 213 | 225 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 213 | 225 | 223 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P48426 | 113 | 163 | 134 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 140 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 113 | 163 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 113 | 163 | 109 | 117 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 149 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 145 | 145 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48426 | 113 | 163 | 131 | 131 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with F-138. G->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 138 | 138 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with L-131. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 143 | 143 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48426 | 213 | 225 | 215 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 213 | 225 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 213 | 225 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 213 | 225 | 223 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P48426 | 113 | 163 | 134 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 140 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 113 | 163 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 113 | 163 | 109 | 117 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 149 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 113 | 163 | 145 | 145 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48426 | 113 | 163 | 131 | 131 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with F-138. G->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 138 | 138 | Mutagenesis | Note=Abolishes catalytic activity%3B when associated with L-131. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20583997;Dbxref=PMID:20583997 |
| P48426 | 113 | 163 | 143 | 143 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48426 | 213 | 225 | 215 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 213 | 225 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 213 | 225 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 213 | 225 | 223 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 226 | 263 | 228 | 230 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 226 | 263 | 2 | 406 | Chain | ID=PRO_0000185465;Note=Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha |
| P48426 | 226 | 263 | 33 | 405 | Domain | Note=PIPK;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00781 |
| P48426 | 226 | 263 | 223 | 226 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 226 | 263 | 235 | 240 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 226 | 263 | 249 | 268 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YBX |
| P48426 | 226 | 263 | 251 | 251 | Natural variant | ID=VAR_024565;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7639683;Dbxref=dbSNP:rs2230469,PMID:7639683 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PIP4K2A |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for PIP4K2A |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
Top |
AD stage-associated exon skippint events for PIP4K2A |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_158243 | -4.404210e-01 | 1.899814e-02 | chr10 | - | 22573311 | 22573457 | 22591629 | 22591781 | 22607927 | 22608023 |
| CDR | MSBB | IFG | exon_skip_158243 | -4.356273e-01 | 2.049709e-02 | chr10 | - | 22573311 | 22573457 | 22591629 | 22591781 | 22607927 | 22608023 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIP4K2A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for PIP4K2A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for PIP4K2A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PIP4K2A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|