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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 PLEKHA5 |
 Gene summary |
| Gene information | Gene symbol | PLEKHA5 | Gene ID | 54477 |
| Gene name | pleckstrin homology domain containing A5 | |
| Synonyms | PEPP-2|PEPP2 | |
| Cytomap | 12p12.3 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 5PH domain-containing family A member 5phosphoinositol 3-phosphate-binding protein-2pleckstrin homology domain containing, family A member 5 | |
| Modification date | 20200320 | |
| 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 |
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Gene structures and expression levels for PLEKHA5 |
| 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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ENSG00000052126
| 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 |
| 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 PLEKHA5 |
| 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_124425 | chr12 | 19236941:19237034:19243180:19243443:19253940:19254009 | 19243180:19243443 |
| exon_skip_148195 | chr12 | 19343323:19343434:19353884:19354002:19358228:19358437 | 19353884:19354002 |
| exon_skip_148235 | chr12 | 19345842:19345888:19348399:19348519:19353884:19354002 | 19348399:19348519 |
| exon_skip_148852 | chr12 | 19365972:19366109:19369693:19369798:19375531:19375585 | 19369693:19369798 |
| exon_skip_153500 | chr12 | 19345842:19345888:19346994:19347182:19348399:19348519 | 19346994:19347182 |
| exon_skip_164802 | chr12 | 19287473:19287556:19290677:19290796:19291644:19291697 | 19290677:19290796 |
| exon_skip_168925 | chr12 | 19347110:19347182:19348399:19348519:19353884:19354002 | 19348399:19348519 |
| exon_skip_174081 | chr12 | 19287493:19287556:19314814:19314894:19320562:19320624 | 19314814:19314894 |
| exon_skip_182272 | chr12 | 19269816:19269885:19270188:19270205:19274516:19274983 | 19270188:19270205 |
| exon_skip_183585 | chr12 | 19365964:19366109:19369693:19369798:19375531:19375592 | 19369693:19369798 |
| exon_skip_190001 | chr12 | 19348399:19348519:19353884:19354002:19358228:19358437 | 19353884:19354002 |
| exon_skip_192670 | chr12 | 19336515:19336616:19343323:19343434:19345842:19345888 | 19343323:19343434 |
| exon_skip_192832 | chr12 | 19343323:19343434:19345842:19345888:19348399:19348519 | 19345842:19345888 |
| exon_skip_197550 | chr12 | 19260949:19261021:19265750:19265850:19269770:19269885 | 19265750:19265850 |
| exon_skip_216080 | chr12 | 19347107:19347182:19348399:19348519:19353884:19354002 | 19348399:19348519 |
| exon_skip_219167 | chr12 | 19269770:19269885:19270188:19270205:19274516:19274983 | 19270188:19270205 |
| exon_skip_228393 | chr12 | 19322310:19322390:19322518:19322667:19336515:19336616 | 19322518:19322667 |
| exon_skip_234343 | chr12 | 19269774:19269885:19270188:19270205:19274516:19274983 | 19270188:19270205 |
| exon_skip_24149 | chr12 | 19287496:19287556:19314814:19314894:19320562:19320624 | 19314814:19314894 |
| exon_skip_241945 | chr12 | 19314814:19314894:19320021:19320056:19320562:19320585 | 19320021:19320056 |
| exon_skip_246927 | chr12 | 19322518:19322667:19336515:19336616:19343323:19343416 | 19336515:19336616 |
| exon_skip_254935 | chr12 | 19336515:19336616:19343323:19343434:19353884:19354002 | 19343323:19343434 |
| exon_skip_257205 | chr12 | 19255045:19255165:19257433:19257537:19260949:19261021 | 19257433:19257537 |
| exon_skip_272649 | chr12 | 19359412:19359546:19361582:19361706:19365964:19366109 | 19361582:19361706 |
| exon_skip_77535 | chr12 | 19257433:19257537:19260949:19261021:19265750:19265850 | 19260949:19261021 |
| exon_skip_80345 | chr12 | 19287473:19287556:19314814:19314894:19320562:19320624 | 19314814:19314894 |
| exon_skip_8134 | chr12 | 19365964:19366109:19369693:19369798:19375531:19375585 | 19369693:19369798 |
| exon_skip_83914 | chr12 | 19257474:19257537:19260949:19261021:19265750:19265817 | 19260949:19261021 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_153500 | Mayo_TC | 3.506098e-01 | 4.572059e-01 | -1.065961e-01 | 3.029181e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for PLEKHA5 |
| 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 |
| ENST00000299275 | 19369693 | 19369798 | 3UTR-3CDS |
| ENST00000299275 | 19260949 | 19261021 | Frame-shift |
| ENST00000299275 | 19265750 | 19265850 | Frame-shift |
| ENST00000299275 | 19343323 | 19343434 | Frame-shift |
| ENST00000299275 | 19345842 | 19345888 | Frame-shift |
| ENST00000299275 | 19348399 | 19348519 | Frame-shift |
| ENST00000299275 | 19353884 | 19354002 | Frame-shift |
| ENST00000299275 | 19361582 | 19361706 | Frame-shift |
| ENST00000299275 | 19322518 | 19322667 | In-frame |
| ENST00000299275 | 19336515 | 19336616 | 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 |
| ENST00000299275 | 19369693 | 19369798 | 3UTR-3CDS |
| ENST00000299275 | 19260949 | 19261021 | Frame-shift |
| ENST00000299275 | 19343323 | 19343434 | Frame-shift |
| ENST00000299275 | 19345842 | 19345888 | Frame-shift |
| ENST00000299275 | 19348399 | 19348519 | Frame-shift |
| ENST00000299275 | 19353884 | 19354002 | Frame-shift |
| ENST00000299275 | 19361582 | 19361706 | Frame-shift |
| ENST00000299275 | 19257433 | 19257537 | 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 |
| ENST00000299275 | 19369693 | 19369798 | 3UTR-3CDS |
| ENST00000299275 | 19260949 | 19261021 | Frame-shift |
| ENST00000299275 | 19265750 | 19265850 | Frame-shift |
| ENST00000299275 | 19343323 | 19343434 | Frame-shift |
| ENST00000299275 | 19345842 | 19345888 | Frame-shift |
| ENST00000299275 | 19348399 | 19348519 | Frame-shift |
| ENST00000299275 | 19353884 | 19354002 | Frame-shift |
| ENST00000299275 | 19361582 | 19361706 | Frame-shift |
| ENST00000299275 | 19322518 | 19322667 | In-frame |
| ENST00000299275 | 19336515 | 19336616 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHA5 |
p-ENSG00000052126_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 |
| ENST00000299275 | 4255 | 1116 | 19322518 | 19322667 | 1997 | 2145 | 663 | 713 |
| ENST00000299275 | 4255 | 1116 | 19336515 | 19336616 | 2147 | 2247 | 713 | 747 |
| 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 |
| ENST00000299275 | 4255 | 1116 | 19257433 | 19257537 | 440 | 543 | 144 | 179 |
| 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 |
| ENST00000299275 | 4255 | 1116 | 19322518 | 19322667 | 1997 | 2145 | 663 | 713 |
| ENST00000299275 | 4255 | 1116 | 19336515 | 19336616 | 2147 | 2247 | 713 | 747 |
| 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 |
| Q9HAU0 | 663 | 713 | 77 | 1116 | Alternative sequence | ID=VSP_046861;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 663 | 713 | 651 | 1116 | Alternative sequence | ID=VSP_014595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 663 | 713 | 2 | 1116 | Chain | ID=PRO_0000053883;Note=Pleckstrin homology domain-containing family A member 5 |
| Q9HAU0 | 713 | 747 | 77 | 1116 | Alternative sequence | ID=VSP_046861;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 713 | 747 | 651 | 1116 | Alternative sequence | ID=VSP_014595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 713 | 747 | 2 | 1116 | Chain | ID=PRO_0000053883;Note=Pleckstrin homology domain-containing family A member 5 |
| Q9HAU0 | 713 | 747 | 736 | 736 | Sequence conflict | Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9HAU0 | 144 | 179 | 77 | 1116 | Alternative sequence | ID=VSP_046861;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 144 | 179 | 172 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DKP |
| Q9HAU0 | 144 | 179 | 2 | 1116 | Chain | ID=PRO_0000053883;Note=Pleckstrin homology domain-containing family A member 5 |
| Q9HAU0 | 144 | 179 | 169 | 268 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| 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 |
| Q9HAU0 | 663 | 713 | 77 | 1116 | Alternative sequence | ID=VSP_046861;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 663 | 713 | 651 | 1116 | Alternative sequence | ID=VSP_014595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 663 | 713 | 2 | 1116 | Chain | ID=PRO_0000053883;Note=Pleckstrin homology domain-containing family A member 5 |
| Q9HAU0 | 713 | 747 | 77 | 1116 | Alternative sequence | ID=VSP_046861;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 713 | 747 | 651 | 1116 | Alternative sequence | ID=VSP_014595;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HAU0 | 713 | 747 | 2 | 1116 | Chain | ID=PRO_0000053883;Note=Pleckstrin homology domain-containing family A member 5 |
| Q9HAU0 | 713 | 747 | 736 | 736 | Sequence conflict | Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PLEKHA5 |
| 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 PLEKHA5 |
| - 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 PLEKHA5 |
| 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 PLEKHA5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PLEKHA5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA2B1 | exon_skip_197550 | -5.888353e-01 | 2.145729e-13 |
| CB | HNRNPAB | exon_skip_197550 | -4.063833e-01 | 1.765405e-06 |
| CB | TRA2A | exon_skip_241945 | -4.050980e-01 | 8.558613e-06 |
| CB | RBM3 | exon_skip_153500 | 4.180340e-01 | 8.378959e-08 |
| CB | PCBP4 | exon_skip_153500 | 4.103381e-01 | 1.518356e-07 |
| CB | NUP42 | exon_skip_153500 | 5.281557e-01 | 2.696384e-12 |
| CB | TRA2A | exon_skip_148235 | -4.075806e-01 | 2.726640e-07 |
| CB | RBM6 | exon_skip_8134 | -4.459763e-01 | 3.830256e-09 |
| CB | TRA2A | exon_skip_8134 | -4.610807e-01 | 9.582241e-10 |
| HCC | RBMS2 | exon_skip_147694 | -4.196789e-01 | 9.626273e-12 |
| HCC | MSI1 | exon_skip_147694 | -5.447924e-01 | 4.174002e-20 |
| HCC | SFPQ | exon_skip_147694 | -4.201673e-01 | 9.057771e-12 |
| HCC | RBM6 | exon_skip_147694 | -4.647667e-01 | 2.265937e-14 |
| HCC | ZFP36 | exon_skip_147694 | -4.102359e-01 | 3.064093e-11 |
| HCC | PTBP1 | exon_skip_147694 | -5.613889e-01 | 1.695063e-21 |
| HCC | SFPQ | exon_skip_153500 | -4.035213e-01 | 5.379699e-12 |
| HCC | TRA2A | exon_skip_162680 | -4.412036e-01 | 2.738979e-14 |
| IFG | ELAVL4 | exon_skip_219167 | 4.166100e-01 | 2.742937e-02 |
| IFG | PABPN1L | exon_skip_153500 | -4.213130e-01 | 2.555965e-02 |
| IFG | RBM6 | exon_skip_162680 | -4.358390e-01 | 2.941765e-02 |
| IFG | TRA2A | exon_skip_162680 | -4.369950e-01 | 2.894168e-02 |
| PCC | RBM6 | exon_skip_153500 | -4.653008e-01 | 4.379561e-12 |
| TC | ELAVL4 | exon_skip_234343 | 6.186821e-01 | 1.636448e-15 |
| TC | NUP42 | exon_skip_234343 | 5.090101e-01 | 3.386469e-10 |
| TC | RALYL | exon_skip_234343 | 6.023425e-01 | 1.370654e-14 |
| TC | HNRNPA0 | exon_skip_153500 | 4.757166e-01 | 7.646115e-10 |
| TC | NUP42 | exon_skip_153500 | 4.765549e-01 | 7.072027e-10 |
| TC | NOVA1 | exon_skip_153500 | 5.791447e-01 | 8.256144e-15 |
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RelatedDrugs for PLEKHA5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PLEKHA5 |
| 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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