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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 PLEKHA6 |
 Gene summary |
| Gene information | Gene symbol | PLEKHA6 | Gene ID | 22874 |
| Gene name | pleckstrin homology domain containing A6 | |
| Synonyms | PEPP-3|PEPP3 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 6PH domain-containing family A member 6phosphoinositol 3-phosphate-binding protein 3 | |
| 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 |
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Gene structures and expression levels for PLEKHA6 |
| 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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ENSG00000143850
| 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 |
| STG | UP | ENST00000414478.1 | PLEKHA6-202:protein_coding:PLEKHA6 | 4.251787e+01 | 1.246826e+00 | 1.187025e-03 | 4.217402e-02 |
| 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 PLEKHA6 |
| 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_101712 | chr1 | 204241685:204241814:204244864:204245003:204245615:204245726 | 204244864:204245003 |
| exon_skip_107188 | chr1 | 204245615:204245726:204247365:204247460:204248821:204248970 | 204247365:204247460 |
| exon_skip_129717 | chr1 | 204221221:204222779:204223462:204223585:204228083:204228228 | 204223462:204223585 |
| exon_skip_147717 | chr1 | 204249184:204249264:204250546:204250614:204257353:204257869 | 204250546:204250614 |
| exon_skip_159422 | chr1 | 204241685:204241814:204243114:204243263:204244864:204245003 | 204243114:204243263 |
| exon_skip_166313 | chr1 | 204251550:204251611:204255626:204255679:204256802:204256888 | 204255626:204255679 |
| exon_skip_169903 | chr1 | 204228083:204228228:204228728:204228861:204228937:204229104 | 204228728:204228861 |
| exon_skip_17234 | chr1 | 204249184:204249264:204250546:204250614:204251531:204251611 | 204250546:204250614 |
| exon_skip_193119 | chr1 | 204249184:204249264:204250546:204250614:204257353:204257860 | 204250546:204250614 |
| exon_skip_248036 | chr1 | 204251531:204251611:204255626:204255679:204256802:204256888 | 204255626:204255679 |
| exon_skip_270091 | chr1 | 204228937:204229104:204230413:204230586:204241375:204241481 | 204230413:204230586 |
| exon_skip_272124 | chr1 | 204241375:204241481:204241685:204241814:204243114:204243263 | 204241685:204241814 |
| exon_skip_27580 | chr1 | 204255626:204255679:204256802:204256888:204257353:204257860 | 204256802:204256888 |
| exon_skip_278997 | chr1 | 204251535:204251611:204255626:204255679:204256802:204256888 | 204255626:204255679 |
| exon_skip_279450 | chr1 | 204243114:204243263:204244864:204245003:204245615:204245726 | 204244864:204245003 |
| exon_skip_52453 | chr1 | 204250546:204250614:204251531:204251611:204255626:204255679 | 204251531:204251611 |
| exon_skip_5731 | chr1 | 204241685:204241814:204243114:204243263:204244864:204245000 | 204243114:204243263 |
| exon_skip_60289 | chr1 | 204241685:204241814:204243114:204243263:204244864:204244924 | 204243114:204243263 |
| exon_skip_68829 | chr1 | 204241719:204241814:204243114:204243263:204244864:204245000 | 204243114:204243263 |
| exon_skip_73879 | chr1 | 204248821:204248970:204249184:204249264:204250546:204250614 | 204249184:204249264 |
| exon_skip_78641 | chr1 | 204223462:204223585:204228083:204228228:204228728:204228861 | 204228083:204228228 |
| 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_5731 | ROSMAP_DLPFC | 6.117593e-01 | 7.153448e-01 | -1.035856e-01 | 3.325540e-05 |
| exon_skip_14005 | Mayo_CB | 6.397531e-01 | 5.304000e-01 | 1.093531e-01 | 4.408382e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for PLEKHA6 |
| 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 |
| ENST00000272203 | 204223462 | 204223585 | 5CDS-5UTR |
| ENST00000272203 | 204228083 | 204228228 | Frame-shift |
| ENST00000272203 | 204228728 | 204228861 | Frame-shift |
| ENST00000272203 | 204244864 | 204245003 | Frame-shift |
| ENST00000272203 | 204247365 | 204247460 | In-frame |
| ENST00000272203 | 204249184 | 204249264 | In-frame |
| ENST00000272203 | 204250546 | 204250614 | 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 |
| ENST00000272203 | 204223462 | 204223585 | 5CDS-5UTR |
| ENST00000272203 | 204228083 | 204228228 | Frame-shift |
| ENST00000272203 | 204247365 | 204247460 | 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 |
| ENST00000272203 | 204223462 | 204223585 | 5CDS-5UTR |
| ENST00000272203 | 204228083 | 204228228 | Frame-shift |
| ENST00000272203 | 204228728 | 204228861 | Frame-shift |
| ENST00000272203 | 204244864 | 204245003 | Frame-shift |
| ENST00000272203 | 204230413 | 204230586 | In-frame |
| ENST00000272203 | 204247365 | 204247460 | In-frame |
| ENST00000272203 | 204250546 | 204250614 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHA6 |
p-ENSG00000143850_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 |
| ENST00000272203 | 7418 | 1048 | 204250546 | 204250614 | 1842 | 1909 | 508 | 530 |
| ENST00000272203 | 7418 | 1048 | 204249184 | 204249264 | 1911 | 1990 | 531 | 557 |
| ENST00000272203 | 7418 | 1048 | 204247365 | 204247460 | 2142 | 2236 | 608 | 639 |
| 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 |
| ENST00000272203 | 7418 | 1048 | 204247365 | 204247460 | 2142 | 2236 | 608 | 639 |
| 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 |
| ENST00000272203 | 7418 | 1048 | 204250546 | 204250614 | 1842 | 1909 | 508 | 530 |
| ENST00000272203 | 7418 | 1048 | 204247365 | 204247460 | 2142 | 2236 | 608 | 639 |
| ENST00000272203 | 7418 | 1048 | 204230413 | 204230586 | 2727 | 2899 | 803 | 860 |
| 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 |
| Q9Y2H5 | 508 | 530 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| Q9Y2H5 | 531 | 557 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| Q9Y2H5 | 608 | 639 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| 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 |
| Q9Y2H5 | 608 | 639 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| 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 |
| Q9Y2H5 | 508 | 530 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| Q9Y2H5 | 608 | 639 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| Q9Y2H5 | 803 | 860 | 1 | 1048 | Chain | ID=PRO_0000053884;Note=Pleckstrin homology domain-containing family A member 6 |
| Q9Y2H5 | 803 | 860 | 848 | 848 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:16964243;Dbxref=PMID:16964243 |
| Q9Y2H5 | 803 | 860 | 854 | 854 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:16964243;Dbxref=PMID:16964243 |
| Q9Y2H5 | 803 | 860 | 837 | 837 | Natural variant | ID=VAR_037146;Note=R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10231032,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs10900562,PMID:10231032,PMID:15489334 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PLEKHA6 |
| 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 PLEKHA6 |
| - 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 PLEKHA6 |
| 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 PLEKHA6 |
| 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 PLEKHA6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF11 | exon_skip_129717 | -4.486831e-01 | 3.002845e-09 |
| CB | PCBP1 | exon_skip_129717 | -5.069713e-01 | 9.171816e-12 |
| CB | HNRNPK | exon_skip_129717 | -4.302630e-01 | 1.509588e-08 |
| CB | PCBP2 | exon_skip_129717 | -5.373105e-01 | 2.835335e-13 |
| CB | CELF1 | exon_skip_129717 | -4.721415e-01 | 3.325335e-10 |
| CB | RBM23 | exon_skip_129717 | -5.930687e-01 | 1.770560e-16 |
| CB | SRSF5 | exon_skip_129717 | -4.011013e-01 | 1.610274e-07 |
| CB | RBM4 | exon_skip_129717 | -5.896429e-01 | 2.903745e-16 |
| CB | RBM4B | exon_skip_129717 | -5.040727e-01 | 1.256142e-11 |
| CB | TARDBP | exon_skip_214250 | -4.578177e-01 | 1.300055e-09 |
| CB | PCBP1 | exon_skip_214250 | -4.941249e-01 | 3.615359e-11 |
| CB | PCBP4 | exon_skip_214250 | 4.839000e-01 | 1.034891e-10 |
| CB | SNRPA | exon_skip_214250 | -4.396948e-01 | 6.683043e-09 |
| CB | EIF4G2 | exon_skip_214250 | -4.021334e-01 | 1.486476e-07 |
| CB | RBM23 | exon_skip_214250 | -4.400840e-01 | 6.458579e-09 |
| CB | RBM4 | exon_skip_214250 | -7.383489e-01 | 1.187842e-28 |
| CB | RBM4B | exon_skip_214250 | -5.886265e-01 | 3.359025e-16 |
| CB | RBM4 | exon_skip_28389 | -6.913952e-01 | 2.314364e-22 |
| CB | TARDBP | exon_skip_78641 | -5.405344e-01 | 1.919353e-13 |
| CB | EIF4G2 | exon_skip_78641 | -5.283434e-01 | 8.214244e-13 |
| CB | RBM23 | exon_skip_78641 | -5.338809e-01 | 4.274637e-13 |
| CB | SRSF1 | exon_skip_78641 | -4.398763e-01 | 6.577454e-09 |
| CB | HNRNPF | exon_skip_78641 | -4.861195e-01 | 8.260910e-11 |
| CB | RBM4 | exon_skip_78641 | -7.443131e-01 | 2.523485e-29 |
| CB | CNOT4 | exon_skip_263914 | 4.945213e-01 | 9.460972e-11 |
| CB | PCBP1 | exon_skip_263914 | 4.657341e-01 | 1.483232e-09 |
| CB | HNRNPA2B1 | exon_skip_263914 | 4.611900e-01 | 2.238522e-09 |
| CB | RBM4 | exon_skip_263914 | 5.081495e-01 | 2.344956e-11 |
| CB | TARDBP | exon_skip_55588 | 4.890728e-01 | 2.149206e-10 |
| CB | PCBP2 | exon_skip_55588 | 4.119312e-01 | 1.629139e-07 |
| CB | EWSR1 | exon_skip_55588 | 4.020682e-01 | 3.396294e-07 |
| CB | TARDBP | exon_skip_14005 | 4.638388e-01 | 1.072021e-09 |
| CB | PCBP2 | exon_skip_14005 | 4.782673e-01 | 2.712372e-10 |
| CB | EWSR1 | exon_skip_14005 | 4.087832e-01 | 1.171006e-07 |
| CB | SRSF9 | exon_skip_14005 | 4.043293e-01 | 1.652284e-07 |
| CB | TRA2A | exon_skip_61028 | 4.078021e-01 | 8.316297e-07 |
| CB | EIF4G2 | exon_skip_61028 | 4.558721e-01 | 2.446409e-08 |
| CB | EIF4G2 | exon_skip_139173 | 4.139759e-01 | 5.448492e-07 |
| CB | PCBP4 | exon_skip_27580 | 4.420559e-01 | 1.485175e-08 |
| DLPFC | ENOX1 | exon_skip_5731 | 4.206819e-01 | 1.137147e-15 |
| FL | ENOX1 | exon_skip_129717 | -4.128428e-01 | 5.791715e-08 |
| FL | CELF1 | exon_skip_129717 | -4.148505e-01 | 4.920853e-08 |
| FL | RBM4 | exon_skip_129717 | -4.015696e-01 | 1.417968e-07 |
| HCC | RBM6 | exon_skip_55588 | -4.195015e-01 | 3.666008e-12 |
| HCC | RBM6 | exon_skip_14005 | -4.589344e-01 | 1.232715e-14 |
| HCC | MSI1 | exon_skip_225088 | -4.185776e-01 | 2.291747e-12 |
| HCC | MSI1 | exon_skip_290857 | -5.563386e-01 | 3.531213e-23 |
| HCC | RBM6 | exon_skip_290857 | -4.682040e-01 | 5.245027e-16 |
| HCC | EIF4G2 | exon_skip_290857 | -4.116410e-01 | 2.201534e-12 |
| HCC | HNRNPF | exon_skip_290857 | -4.717608e-01 | 2.942423e-16 |
| HCC | G3BP2 | exon_skip_248036 | -4.207554e-01 | 3.440657e-12 |
| HCC | RBM3 | exon_skip_191431 | -4.245155e-01 | 2.580490e-12 |
| IFG | TRA2A | exon_skip_248036 | 6.497176e-01 | 1.065580e-03 |
| TC | CELF1 | exon_skip_129717 | -5.415717e-01 | 1.691420e-13 |
| TC | ESRP1 | exon_skip_129717 | -5.858713e-01 | 4.972500e-16 |
| TC | RBM25 | exon_skip_60289 | 4.507627e-01 | 2.213422e-09 |
| TC | CNOT4 | exon_skip_60289 | 4.445185e-01 | 3.896322e-09 |
| TC | MBNL1 | exon_skip_60289 | 4.606756e-01 | 8.808001e-10 |
| TC | ILF2 | exon_skip_60289 | 5.305752e-01 | 5.342418e-13 |
| TC | HNRNPK | exon_skip_60289 | 4.031571e-01 | 1.252485e-07 |
| TC | ENOX1 | exon_skip_60289 | 5.000370e-01 | 1.672142e-11 |
| TC | PPRC1 | exon_skip_60289 | 4.247905e-01 | 2.161589e-08 |
| TC | EIF4G2 | exon_skip_60289 | 4.040585e-01 | 1.166927e-07 |
| TC | SRSF5 | exon_skip_60289 | 4.419572e-01 | 4.897396e-09 |
| TC | HNRNPH2 | exon_skip_60289 | 6.858972e-01 | 1.415763e-23 |
| TC | ESRP1 | exon_skip_60289 | 6.786586e-01 | 6.159493e-23 |
| TC | RBM24 | exon_skip_52453 | 4.362450e-01 | 7.889976e-07 |
| TC | NOVA1 | exon_skip_52453 | 4.015477e-01 | 6.585547e-06 |
| TC | ILF2 | exon_skip_55588 | 4.778487e-01 | 3.226268e-10 |
| TC | RBM24 | exon_skip_55588 | 6.658033e-01 | 3.330155e-21 |
| TC | NOVA1 | exon_skip_55588 | 5.037803e-01 | 2.357351e-11 |
| TC | ILF2 | exon_skip_59394 | 4.933730e-01 | 3.910687e-11 |
| TC | RBM24 | exon_skip_59394 | 5.572243e-01 | 2.378983e-14 |
| TC | EWSR1 | exon_skip_59394 | 4.662071e-01 | 5.894925e-10 |
| TC | NOVA1 | exon_skip_59394 | 4.913778e-01 | 4.812240e-11 |
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RelatedDrugs for PLEKHA6 |
| 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 PLEKHA6 |
| 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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