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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PLEKHA1 |
 Gene summary |
| Gene information | Gene symbol | PLEKHA1 | Gene ID | 59338 |
| Gene name | pleckstrin homology domain containing A1 | |
| Synonyms | TAPP1 | |
| Cytomap | 10q26.13 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1tandem PH domain-containing protein 1 | |
| 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 |
| PLEKHA1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 12101241 |
| PLEKHA1 | GO:0031529 | ruffle organization | 15485858 |
| PLEKHA1 | GO:0045184 | establishment of protein localization | 14516276 |
| PLEKHA1 | GO:0050853 | B cell receptor signaling pathway | 12101241 |
| PLEKHA1 | GO:0070301 | cellular response to hydrogen peroxide | 14516276 |
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Gene structures and expression levels for PLEKHA1 |
| 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. |
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ENSG00000107679
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000392799.7 | PLEKHA1-204:protein_coding:PLEKHA1 | 1.824121e+01 | 1.125590e+00 | 2.282814e-10 | 1.268015e-08 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PLEKHA1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_117352 | chr10 | 122397918:122397974:122400343:122400388:122406576:122406673 | 122400343:122400388 |
| exon_skip_12177 | chr10 | 122400343:122400388:122406576:122406673:122412920:122412976 | 122406576:122406673 |
| exon_skip_196717 | chr10 | 122426942:122427031:122428276:122428420:122429624:122432354 | 122428276:122428420 |
| exon_skip_22218 | chr10 | 122426942:122427031:122428276:122428316:122429624:122430479 | 122428276:122428316 |
| exon_skip_281532 | chr10 | 122426942:122427031:122428276:122428420:122429624:122430479 | 122428276:122428420 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for PLEKHA1 |
| 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 |
| ENST00000368990 | 122400343 | 122400388 | Frame-shift |
| ENST00000392799 | 122400343 | 122400388 | Frame-shift |
| ENST00000433307 | 122400343 | 122400388 | Frame-shift |
| 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 |
| ENST00000368990 | 122400343 | 122400388 | Frame-shift |
| ENST00000392799 | 122400343 | 122400388 | Frame-shift |
| ENST00000433307 | 122400343 | 122400388 | Frame-shift |
| 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 |
| ENST00000368990 | 122400343 | 122400388 | Frame-shift |
| ENST00000392799 | 122400343 | 122400388 | Frame-shift |
| ENST00000433307 | 122400343 | 122400388 | Frame-shift |
| ENST00000368990 | 122406576 | 122406673 | Frame-shift |
| ENST00000392799 | 122406576 | 122406673 | Frame-shift |
| ENST00000433307 | 122406576 | 122406673 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PLEKHA1 |
p-ENSG00000107679_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PLEKHA1 |
| 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 |
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SNVs in the skipped exons for PLEKHA1 |
| - 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 |
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AD stage-associated exon skippint events for PLEKHA1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHA1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_22218 | rs736961 | chr10:122498565 | 1.785252e-04 | 2.725491e-02 |
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Correlation with RNA binding proteins (RBPs) for PLEKHA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_22218 | -4.632600e-01 | 6.422416e-09 |
| CB | KHSRP | exon_skip_22218 | -4.564015e-01 | 1.140161e-08 |
| CB | SRSF1 | exon_skip_22218 | -4.137928e-01 | 3.077333e-07 |
| HCC | DAZAP1 | exon_skip_22218 | 4.582217e-01 | 2.018323e-15 |
| HCC | RBMS3 | exon_skip_22218 | 4.479136e-01 | 9.966529e-15 |
| IFG | ELAVL1 | exon_skip_122100 | 5.385088e-01 | 3.757690e-03 |
| IFG | RBM6 | exon_skip_122100 | 4.317802e-01 | 2.451436e-02 |
| IFG | MBNL1 | exon_skip_122100 | 4.091675e-01 | 3.406756e-02 |
| IFG | LIN28A | exon_skip_42470 | -4.622048e-01 | 1.521187e-02 |
| TC | SRSF9 | exon_skip_22218 | -4.311248e-01 | 1.402726e-08 |
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RelatedDrugs for PLEKHA1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9HB21 | approved|nutraceutical|vet_approved | DB04272 | Citric Acid | small molecule | Q9HB21 |
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RelatedDiseases for PLEKHA1 |
| 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)
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