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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 PLEKHA8 |
 Gene summary |
| Gene information | Gene symbol | PLEKHA8 | Gene ID | 84725 |
| Gene name | pleckstrin homology domain containing A8 | |
| Synonyms | FAPP2 | |
| Cytomap | 7p14.3 | |
| Type of gene | protein-coding | |
| Description | pleckstrin homology domain-containing family A member 8PH domain-containing family A member 8phosphatidylinositol 4-phosphate adaptor protein-2phosphatidylinositol-four-phosphate adapter protein 2phosphoinositol 4-phosphate adapter protein 2pleckstri | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JA3 | |
| Context | PubMed: PLEKHA8 [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 |
| PLEKHA8 | GO:0006869 | lipid transport | 17687330 |
| PLEKHA8 | GO:0035621 | ER to Golgi ceramide transport | 17687330 |
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Exon skipping events across known transcript of Ensembl for PLEKHA8 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 PLEKHA8 |
| 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 PLEKHA8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465080 | 7 | 30085825:30085981:30087447:30087572:30088839:30088998 | 30087447:30087572 | ENSG00000106086.14 | ENST00000396259.1,ENST00000396257.2,ENST00000449726.1,ENST00000258679.7,ENST00000440706.2 |
| exon_skip_465081 | 7 | 30088839:30088998:30090049:30090090:30092324:30092482 | 30090049:30090090 | ENSG00000106086.14 | ENST00000396259.1,ENST00000396257.2,ENST00000449726.1,ENST00000258679.7,ENST00000440706.2 |
| exon_skip_465084 | 7 | 30090049:30090090:30092324:30092482:30094324:30094481 | 30092324:30092482 | ENSG00000106086.14 | ENST00000396259.1,ENST00000396257.2,ENST00000449726.1,ENST00000258679.7,ENST00000440706.2 |
| exon_skip_465085 | 7 | 30094324:30094481:30094872:30094958:30100499:30100558 | 30094872:30094958 | ENSG00000106086.14 | ENST00000396259.1,ENST00000396257.2,ENST00000449726.1,ENST00000258679.7,ENST00000440706.2 |
| exon_skip_465088 | 7 | 30100499:30100558:30101512:30101643:30102287:30102358 | 30101512:30101643 | ENSG00000106086.14 | ENST00000396259.1,ENST00000396257.2,ENST00000449726.1,ENST00000258679.7,ENST00000440706.2 |
| exon_skip_465089 | 7 | 30102287:30102358:30113686:30113748:30118205:30119543 | 30113686:30113748 | ENSG00000106086.14 | ENST00000449726.1,ENST00000440706.2 |
| exon_skip_465096 | 7 | 30102289:30102358:30113686:30113748:30168881:30169088 | 30113686:30113748 | ENSG00000106086.14 | ENST00000396257.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLEKHA8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465080 | 7 | 30085825:30085981:30087447:30087572:30088839:30088998 | 30087447:30087572 | ENSG00000106086.14 | ENST00000258679.7,ENST00000449726.1,ENST00000396257.2,ENST00000396259.1,ENST00000440706.2 |
| exon_skip_465081 | 7 | 30088839:30088998:30090049:30090090:30092324:30092482 | 30090049:30090090 | ENSG00000106086.14 | ENST00000258679.7,ENST00000449726.1,ENST00000396257.2,ENST00000396259.1,ENST00000440706.2 |
| exon_skip_465084 | 7 | 30090049:30090090:30092324:30092482:30094324:30094481 | 30092324:30092482 | ENSG00000106086.14 | ENST00000258679.7,ENST00000449726.1,ENST00000396257.2,ENST00000396259.1,ENST00000440706.2 |
| exon_skip_465085 | 7 | 30094324:30094481:30094872:30094958:30100499:30100558 | 30094872:30094958 | ENSG00000106086.14 | ENST00000258679.7,ENST00000449726.1,ENST00000396257.2,ENST00000396259.1,ENST00000440706.2 |
| exon_skip_465088 | 7 | 30100499:30100558:30101512:30101643:30102287:30102358 | 30101512:30101643 | ENSG00000106086.14 | ENST00000258679.7,ENST00000449726.1,ENST00000396257.2,ENST00000396259.1,ENST00000440706.2 |
| exon_skip_465089 | 7 | 30102287:30102358:30113686:30113748:30118205:30119543 | 30113686:30113748 | ENSG00000106086.14 | ENST00000449726.1,ENST00000440706.2 |
| exon_skip_465096 | 7 | 30102289:30102358:30113686:30113748:30168881:30169088 | 30113686:30113748 | ENSG00000106086.14 | ENST00000396257.2 |
| 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 PLEKHA8 |
| 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 |
| ENST00000449726 | 30087447 | 30087572 | Frame-shift |
| ENST00000449726 | 30090049 | 30090090 | Frame-shift |
| ENST00000449726 | 30092324 | 30092482 | Frame-shift |
| ENST00000449726 | 30094872 | 30094958 | Frame-shift |
| ENST00000449726 | 30101512 | 30101643 | Frame-shift |
| ENST00000449726 | 30113686 | 30113748 | Frame-shift |
| 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 |
| ENST00000449726 | 30087447 | 30087572 | Frame-shift |
| ENST00000449726 | 30090049 | 30090090 | Frame-shift |
| ENST00000449726 | 30092324 | 30092482 | Frame-shift |
| ENST00000449726 | 30094872 | 30094958 | Frame-shift |
| ENST00000449726 | 30101512 | 30101643 | Frame-shift |
| ENST00000449726 | 30113686 | 30113748 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PLEKHA8 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for PLEKHA8 |
| - 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-G3-A3CJ-01 | exon_skip_465084 | 30092325 | 30092482 | 30092327 | 30092327 | Frame_Shift_Del | A | - | p.Q214fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_465084 | 30092325 | 30092482 | 30092422 | 30092422 | Frame_Shift_Del | A | - | p.K246fs |
| BRCA | TCGA-E2-A14W-01 | exon_skip_465084 | 30092325 | 30092482 | 30092481 | 30092493 | Frame_Shift_Del | AGGTAAAAACAAA | - | p.V266fs |
| HNSC | TCGA-P3-A6T8-01 | exon_skip_465081 | 30090050 | 30090090 | 30090065 | 30090066 | Frame_Shift_Ins | - | T | p.T205fs |
| UCEC | TCGA-B5-A11E-01 | exon_skip_465081 | 30090050 | 30090090 | 30090049 | 30090049 | Splice_Site | G | T | e6-1 |
| CESC | TCGA-IR-A3LL-01 | exon_skip_465084 | 30092325 | 30092482 | 30092483 | 30092483 | Splice_Site | G | C | e7+1 |
| - 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 |
| K5_THYROID | 30087448 | 30087572 | 30087489 | 30087489 | Missense_Mutation | G | C | p.E119Q |
| SAT_UPPER_AERODIGESTIVE_TRACT | 30087448 | 30087572 | 30087528 | 30087528 | Missense_Mutation | G | T | p.D132Y |
| KMRC20_KIDNEY | 30092325 | 30092482 | 30092339 | 30092339 | Missense_Mutation | G | A | p.S218N |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 30092325 | 30092482 | 30092437 | 30092437 | Missense_Mutation | G | T | p.D251Y |
| NCIH1395_LUNG | 30092325 | 30092482 | 30092437 | 30092437 | Missense_Mutation | G | T | p.D251Y |
| OUMS23_LARGE_INTESTINE | 30092325 | 30092482 | 30092444 | 30092444 | Missense_Mutation | G | C | p.S253T |
| LB1047EBV_MATCHED_NORMAL_TISSUE | 30092325 | 30092482 | 30092444 | 30092444 | Missense_Mutation | G | A | p.S253N |
| LB1047RCC_KIDNEY | 30092325 | 30092482 | 30092444 | 30092444 | Missense_Mutation | G | A | p.S253N |
| COLO201_LARGE_INTESTINE | 30092325 | 30092482 | 30092447 | 30092447 | Missense_Mutation | T | G | p.I254R |
| COLO205_LARGE_INTESTINE | 30092325 | 30092482 | 30092447 | 30092447 | Missense_Mutation | T | G | p.I254R |
| NCIH1876_LUNG | 30101513 | 30101643 | 30101541 | 30101541 | Missense_Mutation | A | G | p.K376R |
| LS180_LARGE_INTESTINE | 30101513 | 30101643 | 30101624 | 30101624 | Missense_Mutation | G | A | p.A404T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30113687 | 30113748 | 30113747 | 30113747 | Splice_Site | C | T | p.A454V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHA8 |
| 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_465089 | 7 | 30102287:30102358:30113686:30113748:30118205:30119543 | 30113686:30113748 | ENST00000449726.1,ENST00000440706.2 | LGG | rs11977829 | chr7:30113706 | A/G | 3.71e-07 |
| exon_skip_465089 | 7 | 30102287:30102358:30113686:30113748:30118205:30119543 | 30113686:30113748 | ENST00000449726.1,ENST00000440706.2 | LGG | rs11977829 | chr7:30113706 | A/G | 7.65e-07 |
| exon_skip_465089 | 7 | 30102287:30102358:30113686:30113748:30118205:30119543 | 30113686:30113748 | ENST00000449726.1,ENST00000440706.2 | PRAD | rs11977829 | chr7:30113706 | A/G | 9.43e-04 |
| exon_skip_465096 | 7 | 30102289:30102358:30113686:30113748:30168881:30169088 | 30113686:30113748 | ENST00000396257.2 | LGG | rs11977829 | chr7:30113706 | A/G | 3.71e-07 |
| exon_skip_465096 | 7 | 30102289:30102358:30113686:30113748:30168881:30169088 | 30113686:30113748 | ENST00000396257.2 | LGG | rs11977829 | chr7:30113706 | A/G | 7.65e-07 |
| exon_skip_465096 | 7 | 30102289:30102358:30113686:30113748:30168881:30169088 | 30113686:30113748 | ENST00000396257.2 | PRAD | rs11977829 | chr7:30113706 | A/G | 9.43e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA8 |
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RelatedDrugs for PLEKHA8 |
| 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 PLEKHA8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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