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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 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 | 20180519 | |
| UniProtAcc | Q9HAU0 | |
| Context | PubMed: PLEKHA5 [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 |
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Exon skipping events across known transcript of Ensembl for PLEKHA5 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 PLEKHA5 |
| 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 PLEKHA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80509 | 12 | 19389874:19389968:19396113:19396377:19406873:19406943 | 19396113:19396377 | ENSG00000052126.10 | ENST00000534979.1 |
| exon_skip_80510 | 12 | 19407978:19408099:19410366:19410471:19413882:19413955 | 19410366:19410471 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000429027.2,ENST00000538305.1,ENST00000309364.4,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80511 | 12 | 19410407:19410471:19413882:19413955:19418683:19418751 | 19413882:19413955 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000510738.2,ENST00000429027.2,ENST00000538305.1,ENST00000309364.4,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80513 | 12 | 19413882:19413955:19418683:19418784:19422703:19422819 | 19418683:19418784 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000510738.2,ENST00000429027.2,ENST00000309364.4,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80515 | 12 | 19422749:19422819:19423121:19423139:19427449:19427917 | 19423121:19423139 | ENSG00000052126.10 | ENST00000429027.2 |
| exon_skip_80520 | 12 | 19436570:19436679:19440406:19440490:19473495:19473519 | 19440406:19440490 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000359180.3,ENST00000539256.1,ENST00000299275.6 |
| exon_skip_80522 | 12 | 19440406:19440490:19443610:19443730:19444577:19444631 | 19443610:19443730 | ENSG00000052126.10 | ENST00000355397.3,ENST00000538677.1,ENST00000429027.2,ENST00000538714.1 |
| exon_skip_80534 | 12 | 19440406:19440490:19467747:19467828:19473495:19473519 | 19467747:19467828 | ENSG00000052126.10 | ENST00000543806.1 |
| exon_skip_80536 | 12 | 19443610:19443730:19444577:19444631:19473495:19473519 | 19444577:19444631 | ENSG00000052126.10 | ENST00000355397.3,ENST00000538714.1 |
| exon_skip_80539 | 12 | 19467747:19467828:19472954:19472990:19473495:19473519 | 19472954:19472990 | ENSG00000052126.10 | ENST00000538677.1,ENST00000429027.2,ENST00000424268.1 |
| exon_skip_80541 | 12 | 19475243:19475324:19475451:19475601:19489448:19489550 | 19475451:19475601 | ENSG00000052126.10 | ENST00000538068.1,ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000539256.1,ENST00000429027.2,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80542 | 12 | 19475451:19475601:19489448:19489550:19496256:19496350 | 19489448:19489550 | ENSG00000052126.10 | ENST00000538068.1,ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000538972.1,ENST00000539256.1,ENST00000429027.2,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80543 | 12 | 19489448:19489550:19496256:19496353:19498775:19498822 | 19496256:19496353 | ENSG00000052126.10 | ENST00000424268.1 |
| exon_skip_80544 | 12 | 19489448:19489550:19496256:19496368:19498775:19498822 | 19496256:19496368 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000539256.1,ENST00000429027.2,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80547 | 12 | 19496256:19496368:19498775:19498822:19501332:19501453 | 19498775:19498822 | ENSG00000052126.10 | ENST00000355397.3,ENST00000539256.1,ENST00000299275.6,ENST00000538714.1 |
| exon_skip_80552 | 12 | 19496256:19496368:19506817:19506936:19511161:19511371 | 19506817:19506936 | ENSG00000052126.10 | ENST00000359180.3,ENST00000538972.1 |
| exon_skip_80554 | 12 | 19498775:19498822:19499927:19500116:19501332:19501453 | 19499927:19500116 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000429027.2,ENST00000424268.1,ENST00000543806.1 |
| exon_skip_80558 | 12 | 19498775:19498822:19501332:19501453:19506817:19506936 | 19501332:19501453 | ENSG00000052126.10 | ENST00000355397.3,ENST00000539256.1,ENST00000299275.6,ENST00000538714.1 |
| exon_skip_80560 | 12 | 19501332:19501453:19506817:19506936:19511161:19511371 | 19506817:19506936 | ENSG00000052126.10 | ENST00000536974.1,ENST00000317589.4,ENST00000355397.3,ENST00000539256.1,ENST00000429027.2,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80561 | 12 | 19512345:19512480:19514515:19514640:19518897:19519043 | 19514515:19514640 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000538972.1,ENST00000539256.1,ENST00000429027.2,ENST00000424268.1,ENST00000299275.6,ENST00000538714.1,ENST00000543806.1 |
| exon_skip_80565 | 12 | 19518897:19519043:19522626:19522732:19528464:19528519 | 19522626:19522732 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000538972.1,ENST00000539256.1,ENST00000429027.2,ENST00000424268.1,ENST00000299275.6,ENST00000543806.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLEKHA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80509 | 12 | 19389874:19389968:19396113:19396377:19406873:19406943 | 19396113:19396377 | ENSG00000052126.10 | ENST00000534979.1 |
| exon_skip_80510 | 12 | 19407978:19408099:19410366:19410471:19413882:19413955 | 19410366:19410471 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000309364.4,ENST00000429027.2,ENST00000299275.6,ENST00000538714.1,ENST00000538305.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1 |
| exon_skip_80511 | 12 | 19410407:19410471:19413882:19413955:19418683:19418751 | 19413882:19413955 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000309364.4,ENST00000429027.2,ENST00000299275.6,ENST00000538714.1,ENST00000538305.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1,ENST00000510738.2 |
| exon_skip_80513 | 12 | 19413882:19413955:19418683:19418784:19422703:19422819 | 19418683:19418784 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000309364.4,ENST00000429027.2,ENST00000299275.6,ENST00000538714.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1,ENST00000510738.2 |
| exon_skip_80515 | 12 | 19422749:19422819:19423121:19423139:19427449:19427917 | 19423121:19423139 | ENSG00000052126.10 | ENST00000429027.2 |
| exon_skip_80520 | 12 | 19436570:19436679:19440406:19440490:19473495:19473519 | 19440406:19440490 | ENSG00000052126.10 | ENST00000317589.4,ENST00000359180.3,ENST00000299275.6,ENST00000539256.1,ENST00000536974.1 |
| exon_skip_80522 | 12 | 19440406:19440490:19443610:19443730:19444577:19444631 | 19443610:19443730 | ENSG00000052126.10 | ENST00000355397.3,ENST00000429027.2,ENST00000538714.1,ENST00000538677.1 |
| exon_skip_80533 | 12 | 19440406:19440490:19467747:19467828:19472954:19472990 | 19467747:19467828 | ENSG00000052126.10 | ENST00000424268.1 |
| exon_skip_80534 | 12 | 19440406:19440490:19467747:19467828:19473495:19473519 | 19467747:19467828 | ENSG00000052126.10 | ENST00000543806.1 |
| exon_skip_80536 | 12 | 19443610:19443730:19444577:19444631:19473495:19473519 | 19444577:19444631 | ENSG00000052126.10 | ENST00000355397.3,ENST00000538714.1 |
| exon_skip_80539 | 12 | 19467747:19467828:19472954:19472990:19473495:19473519 | 19472954:19472990 | ENSG00000052126.10 | ENST00000429027.2,ENST00000424268.1,ENST00000538677.1 |
| exon_skip_80541 | 12 | 19475243:19475324:19475451:19475601:19489448:19489550 | 19475451:19475601 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1,ENST00000538068.1 |
| exon_skip_80542 | 12 | 19475451:19475601:19489448:19489550:19496256:19496350 | 19489448:19489550 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1,ENST00000538068.1,ENST00000538972.1 |
| exon_skip_80543 | 12 | 19489448:19489550:19496256:19496353:19498775:19498822 | 19496256:19496353 | ENSG00000052126.10 | ENST00000424268.1 |
| exon_skip_80544 | 12 | 19489448:19489550:19496256:19496368:19498775:19498822 | 19496256:19496368 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1,ENST00000543806.1,ENST00000536974.1 |
| exon_skip_80547 | 12 | 19496256:19496368:19498775:19498822:19501332:19501453 | 19498775:19498822 | ENSG00000052126.10 | ENST00000355397.3,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1 |
| exon_skip_80552 | 12 | 19496256:19496368:19506817:19506936:19511161:19511371 | 19506817:19506936 | ENSG00000052126.10 | ENST00000359180.3,ENST00000538972.1 |
| exon_skip_80554 | 12 | 19498775:19498822:19499927:19500116:19501332:19501453 | 19499927:19500116 | ENSG00000052126.10 | ENST00000317589.4,ENST00000429027.2,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1 |
| exon_skip_80558 | 12 | 19498775:19498822:19501332:19501453:19506817:19506936 | 19501332:19501453 | ENSG00000052126.10 | ENST00000355397.3,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1 |
| exon_skip_80560 | 12 | 19501332:19501453:19506817:19506936:19511161:19511371 | 19506817:19506936 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1,ENST00000424268.1,ENST00000543806.1,ENST00000536974.1 |
| exon_skip_80561 | 12 | 19512345:19512480:19514515:19514640:19518897:19519043 | 19514515:19514640 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000538714.1,ENST00000424268.1,ENST00000543806.1,ENST00000538972.1 |
| exon_skip_80565 | 12 | 19518897:19519043:19522626:19522732:19528464:19528519 | 19522626:19522732 | ENSG00000052126.10 | ENST00000317589.4,ENST00000355397.3,ENST00000359180.3,ENST00000429027.2,ENST00000299275.6,ENST00000539256.1,ENST00000424268.1,ENST00000543806.1,ENST00000538972.1 |
| 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 PLEKHA5 |
| 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 |
| ENST00000299275 | 19522626 | 19522732 | 3UTR-3CDS |
| ENST00000299275 | 19413882 | 19413955 | Frame-shift |
| ENST00000299275 | 19418683 | 19418784 | Frame-shift |
| ENST00000299275 | 19496256 | 19496368 | Frame-shift |
| ENST00000299275 | 19498775 | 19498822 | Frame-shift |
| ENST00000299275 | 19501332 | 19501453 | Frame-shift |
| ENST00000299275 | 19506817 | 19506936 | Frame-shift |
| ENST00000299275 | 19514515 | 19514640 | Frame-shift |
| ENST00000299275 | 19410366 | 19410471 | In-frame |
| ENST00000299275 | 19440406 | 19440490 | In-frame |
| ENST00000299275 | 19475451 | 19475601 | In-frame |
| ENST00000299275 | 19489448 | 19489550 | In-frame |
| 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 |
| ENST00000299275 | 19522626 | 19522732 | 3UTR-3CDS |
| ENST00000299275 | 19413882 | 19413955 | Frame-shift |
| ENST00000299275 | 19418683 | 19418784 | Frame-shift |
| ENST00000299275 | 19496256 | 19496368 | Frame-shift |
| ENST00000299275 | 19498775 | 19498822 | Frame-shift |
| ENST00000299275 | 19501332 | 19501453 | Frame-shift |
| ENST00000299275 | 19506817 | 19506936 | Frame-shift |
| ENST00000299275 | 19514515 | 19514640 | Frame-shift |
| ENST00000299275 | 19410366 | 19410471 | In-frame |
| ENST00000299275 | 19440406 | 19440490 | In-frame |
| ENST00000299275 | 19475451 | 19475601 | In-frame |
| ENST00000299275 | 19489448 | 19489550 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLEKHA5 |
| 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 |
| ENST00000299275 | 4255 | 1116 | 19410366 | 19410471 | 439 | 543 | 144 | 179 |
| ENST00000299275 | 4255 | 1116 | 19440406 | 19440490 | 1768 | 1851 | 587 | 615 |
| ENST00000299275 | 4255 | 1116 | 19475451 | 19475601 | 1996 | 2145 | 663 | 713 |
| ENST00000299275 | 4255 | 1116 | 19489448 | 19489550 | 2146 | 2247 | 713 | 747 |
| 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 |
| ENST00000299275 | 4255 | 1116 | 19410366 | 19410471 | 439 | 543 | 144 | 179 |
| ENST00000299275 | 4255 | 1116 | 19440406 | 19440490 | 1768 | 1851 | 587 | 615 |
| ENST00000299275 | 4255 | 1116 | 19475451 | 19475601 | 1996 | 2145 | 663 | 713 |
| ENST00000299275 | 4255 | 1116 | 19489448 | 19489550 | 2146 | 2247 | 713 | 747 |
| 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 PLEKHA5 |
| - 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. |
PLEKHA5_ESCA_exon_skip_80515_psi_boxplot.png |
PLEKHA5_LIHC_exon_skip_80534_psi_boxplot.png |
| - 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 |
| STAD | TCGA-CG-4305-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| STAD | TCGA-CG-4305-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149X |
| STAD | TCGA-D7-A6EY-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149X |
| STAD | TCGA-HU-A4H4-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| STAD | TCGA-HU-A4H4-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149X |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_80543 | 19496257 | 19496353 | 19496293 | 19496293 | Frame_Shift_Del | A | - | p.K818fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_80544 | 19496257 | 19496368 | 19496293 | 19496293 | Frame_Shift_Del | A | - | p.K818fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_80554 | 19499928 | 19500116 | 19499999 | 19499999 | Frame_Shift_Del | C | - | p.I927fs |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_80561 | 19514516 | 19514640 | 19514518 | 19514518 | Frame_Shift_Del | A | - | p.L996fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_80565 | 19522627 | 19522732 | 19522710 | 19522711 | Frame_Shift_Del | AT | - | p.1279_1280del |
| STAD | TCGA-HU-A4H8-01 | exon_skip_80565 | 19522627 | 19522732 | 19522710 | 19522711 | Frame_Shift_Del | AT | - | p.F1113fs |
| STAD | TCGA-BR-4370-01 | exon_skip_80510 | 19410367 | 19410471 | 19410380 | 19410381 | Frame_Shift_Ins | - | A | p.S149fs |
| STAD | TCGA-BR-4370-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410382 | Frame_Shift_Ins | - | A | p.S149fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_80510 | 19410367 | 19410471 | 19410381 | 19410381 | Nonsense_Mutation | A | - | p.S149X |
| ESCA | TCGA-IC-A6RE-01 | exon_skip_80515 | 19423122 | 19423139 | 19423138 | 19423138 | Nonsense_Mutation | C | T | p.R282* |
| LIHC | TCGA-2Y-A9H2-01 | exon_skip_80534 | 19467748 | 19467828 | 19467760 | 19467760 | Nonsense_Mutation | G | T | p.E684X |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_80542 | 19489449 | 19489550 | 19489449 | 19489449 | Nonsense_Mutation | G | T | p.E817X |
| ESCA | TCGA-LN-A7HY-01 | exon_skip_80544 | 19496257 | 19496368 | 19496362 | 19496362 | Nonsense_Mutation | G | T | p.E783* |
| ESCA | TCGA-LN-A7HY-01 | exon_skip_80544 | 19496257 | 19496368 | 19496362 | 19496362 | Nonsense_Mutation | G | T | p.E886X |
| PAAD | TCGA-2J-AAB6-01 | exon_skip_80558 | 19501333 | 19501453 | 19501393 | 19501393 | Nonsense_Mutation | G | T | p.E821* |
| HNSC | TCGA-DQ-7588-01 | exon_skip_80558 | 19501333 | 19501453 | 19501415 | 19501415 | Nonsense_Mutation | C | A | p.S828* |
| HNSC | TCGA-DQ-7588-01 | exon_skip_80558 | 19501333 | 19501453 | 19501415 | 19501415 | Nonsense_Mutation | C | A | p.S886* |
| STAD | TCGA-BR-8372-01 | exon_skip_80547 | 19498776 | 19498822 | 19498775 | 19498775 | Splice_Site | G | T | . |
| STAD | TCGA-BR-8372-01 | exon_skip_80547 | 19498776 | 19498822 | 19498775 | 19498775 | Splice_Site | G | T | p.G785_splice |
| OV | TCGA-04-1347-01 | exon_skip_80565 | 19522627 | 19522732 | 19522733 | 19522733 | Splice_Site | G | C | e25+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-2Y-A9H2-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_80534 | |
| Skipped exon start: 19467748 | |
| Skipped exon end: 19467828 | |
| Mutation start: 19467760 | |
| Mutation end: 19467760 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E684X | |
exon_skip_80534_LIHC_TCGA-2Y-A9H2-01.png | |
 | Sample: TCGA-IC-A6RE-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_80515 | |
| Skipped exon start: 19423122 | |
| Skipped exon end: 19423139 | |
| Mutation start: 19423138 | |
| Mutation end: 19423138 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R282* | |
exon_skip_379913_ESCA_TCGA-IC-A6RE-01.png | |
exon_skip_499409_ESCA_TCGA-IC-A6RE-01.png | |
exon_skip_68768_ESCA_TCGA-IC-A6RE-01.png | |
exon_skip_80515_ESCA_TCGA-IC-A6RE-01.png | |
| - 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 |
| SNGM_ENDOMETRIUM | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| HCT116_LARGE_INTESTINE | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| CW2_LARGE_INTESTINE | 19410367 | 19410471 | 19410381 | 19410381 | Frame_Shift_Del | A | - | p.S149fs |
| DMS153_LUNG | 19496257 | 19496353 | 19496335 | 19496335 | Frame_Shift_Del | A | - | p.K774fs |
| DMS153_LUNG | 19496257 | 19496368 | 19496335 | 19496335 | Frame_Shift_Del | A | - | p.K774fs |
| MFE296_ENDOMETRIUM | 19514516 | 19514640 | 19514518 | 19514518 | Frame_Shift_Del | A | - | p.L996fs |
| IGROV1_OVARY | 19514516 | 19514640 | 19514518 | 19514518 | Frame_Shift_Del | A | - | p.L996fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 19514516 | 19514640 | 19514518 | 19514518 | Frame_Shift_Del | A | - | p.L996fs |
| LU99_LUNG | 19410367 | 19410471 | 19410383 | 19410383 | Missense_Mutation | A | G | p.K150R |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19413883 | 19413955 | 19413889 | 19413889 | Missense_Mutation | A | G | p.T182A |
| HEC251_ENDOMETRIUM | 19413883 | 19413955 | 19413914 | 19413914 | Missense_Mutation | G | A | p.R190H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 19418684 | 19418784 | 19418688 | 19418688 | Missense_Mutation | G | T | p.E205D |
| HCC2450_LUNG | 19418684 | 19418784 | 19418695 | 19418695 | Missense_Mutation | G | C | p.E208Q |
| NOS1_BONE | 19418684 | 19418784 | 19418704 | 19418704 | Missense_Mutation | C | A | p.L211M |
| DMS79_LUNG | 19418684 | 19418784 | 19418758 | 19418758 | Missense_Mutation | C | T | p.H229Y |
| NCIH820_LUNG | 19418684 | 19418784 | 19418761 | 19418761 | Missense_Mutation | A | G | p.I230V |
| AU565_BREAST | 19440407 | 19440490 | 19440426 | 19440426 | Missense_Mutation | G | C | p.R594T |
| SKBR3_BREAST | 19440407 | 19440490 | 19440426 | 19440426 | Missense_Mutation | G | C | p.R594T |
| MFE296_ENDOMETRIUM | 19475452 | 19475601 | 19475537 | 19475537 | Missense_Mutation | T | C | p.L692S |
| DU145_PROSTATE | 19475452 | 19475601 | 19475545 | 19475545 | Missense_Mutation | G | C | p.D695H |
| LS411N_LARGE_INTESTINE | 19475452 | 19475601 | 19475549 | 19475549 | Missense_Mutation | A | G | p.D696G |
| OCUBM_BREAST | 19475452 | 19475601 | 19475575 | 19475575 | Missense_Mutation | T | C | p.C705R |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19489449 | 19489550 | 19489459 | 19489459 | Missense_Mutation | G | A | p.R717Q |
| LOVO_LARGE_INTESTINE | 19496257 | 19496353 | 19496335 | 19496335 | Missense_Mutation | A | G | p.K774E |
| LOVO_LARGE_INTESTINE | 19496257 | 19496368 | 19496335 | 19496335 | Missense_Mutation | A | G | p.K774E |
| CORL24_LUNG | 19498776 | 19498822 | 19498782 | 19498782 | Missense_Mutation | T | A | p.I787K |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19498776 | 19498822 | 19498783 | 19498783 | Missense_Mutation | A | G | p.I787M |
| EVSAT_BREAST | 19501333 | 19501453 | 19501415 | 19501415 | Missense_Mutation | C | T | p.S828L |
| NY_BONE | 19501333 | 19501453 | 19501433 | 19501433 | Missense_Mutation | T | A | p.I834K |
| MFE319_ENDOMETRIUM | 19514516 | 19514640 | 19514633 | 19514633 | Missense_Mutation | A | G | p.T1035A |
| SNU81_LARGE_INTESTINE | 19418684 | 19418784 | 19418695 | 19418695 | Nonsense_Mutation | G | T | p.E208* |
| KM12_LARGE_INTESTINE | 19496257 | 19496353 | 19496304 | 19496304 | Nonsense_Mutation | G | A | p.W763* |
| KM12_LARGE_INTESTINE | 19496257 | 19496368 | 19496304 | 19496304 | Nonsense_Mutation | G | A | p.W763* |
| GP5D_LARGE_INTESTINE | 19522627 | 19522732 | 19522720 | 19522720 | Nonstop_Mutation | A | G | p.*1117W |
| LOXIMVI_SKIN | 19489449 | 19489550 | 19489449 | 19489449 | Splice_Site | G | A | p.E714K |
| SW48_LARGE_INTESTINE | 19514516 | 19514640 | 19514517 | 19514518 | Splice_Site | - | A | p.LK996fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLEKHA5 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLEKHA5 |
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RelatedDrugs for PLEKHA5 |
| 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 PLEKHA5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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