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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 PLCH1 |
 Gene summary |
| Gene information | Gene symbol | PLCH1 | Gene ID | 23007 |
| Gene name | phospholipase C eta 1 | |
| Synonyms | PLC eta 1|PLC-L3|PLCL3 | |
| Cytomap | 3q25.31 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1PLC-eta-1phosphoinositide phospholipase C-eta-1phospholipase C-eta1aphospholipase C-eta1bphospholipase C-like 3phospholipase C-like protein 3 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A2U3TZV8, Q4KWH8, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PLCH1 | GO:0048015 | phosphatidylinositol-mediated signaling | 15702972 |
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Gene structures and expression levels for PLCH1 |
| 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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ENSG00000114805
| 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 PLCH1 |
| 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_151563 | chr3 | 155494141:155494248:155494338:155494517:155497320:155497417 | 155494338:155494517 |
| exon_skip_174687 | chr3 | 155485356:155485710:155486147:155486206:155488028:155488107 | 155486147:155486206 |
| exon_skip_190056 | chr3 | 155479882:155483051:155483349:155483376:155485356:155485710 | 155483349:155483376 |
| exon_skip_205894 | chr3 | 155479882:155483051:155483349:155483376:155485356:155485705 | 155483349:155483376 |
| exon_skip_206744 | chr3 | 155488660:155488806:155490784:155490868:155492729:155492853 | 155490784:155490868 |
| exon_skip_242923 | chr3 | 155500703:155500794:155504555:155504626:155514723:155514884 | 155504555:155504626 |
| exon_skip_32512 | chr3 | 155549787:155549958:155554076:155554196:155564915:155565118 | 155554076:155554196 |
| exon_skip_70373 | chr3 | 155504555:155504626:155514723:155514884:155523897:155524004 | 155514723:155514884 |
| 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 PLCH1 |
| 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 |
| ENST00000340059 | 155554076 | 155554196 | Frame-shift |
| ENST00000340059 | 155486147 | 155486206 | In-frame |
| ENST00000340059 | 155504555 | 155504626 | In-frame |
| ENST00000340059 | 155514723 | 155514884 | 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 |
| ENST00000340059 | 155486147 | 155486206 | In-frame |
| ENST00000340059 | 155504555 | 155504626 | 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 |
| ENST00000340059 | 155490784 | 155490868 | Frame-shift |
| ENST00000340059 | 155554076 | 155554196 | Frame-shift |
| ENST00000340059 | 155486147 | 155486206 | In-frame |
| ENST00000340059 | 155494338 | 155494517 | In-frame |
| ENST00000340059 | 155504555 | 155504626 | In-frame |
| ENST00000340059 | 155514723 | 155514884 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCH1 |
p-ENSG00000114805_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 |
| ENST00000340059 | 6185 | 1693 | 155514723 | 155514884 | 1435 | 1595 | 478 | 531 |
| ENST00000340059 | 6185 | 1693 | 155504555 | 155504626 | 1597 | 1667 | 532 | 555 |
| ENST00000340059 | 6185 | 1693 | 155486147 | 155486206 | 2584 | 2642 | 861 | 880 |
| 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 |
| ENST00000340059 | 6185 | 1693 | 155504555 | 155504626 | 1597 | 1667 | 532 | 555 |
| ENST00000340059 | 6185 | 1693 | 155486147 | 155486206 | 2584 | 2642 | 861 | 880 |
| 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 |
| ENST00000340059 | 6185 | 1693 | 155514723 | 155514884 | 1435 | 1595 | 478 | 531 |
| ENST00000340059 | 6185 | 1693 | 155504555 | 155504626 | 1597 | 1667 | 532 | 555 |
| ENST00000340059 | 6185 | 1693 | 155494338 | 155494517 | 1859 | 2037 | 619 | 679 |
| ENST00000340059 | 6185 | 1693 | 155486147 | 155486206 | 2584 | 2642 | 861 | 880 |
| 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 |
| Q4KWH8 | 478 | 531 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 532 | 555 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 861 | 880 | 862 | 881 | Alternative sequence | ID=VSP_032902;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q4KWH8 | 861 | 880 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| 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 |
| Q4KWH8 | 532 | 555 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 861 | 880 | 862 | 881 | Alternative sequence | ID=VSP_032902;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q4KWH8 | 861 | 880 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| 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 |
| Q4KWH8 | 478 | 531 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 532 | 555 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 619 | 679 | 627 | 627 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q4KWH8 | 619 | 679 | 654 | 654 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q4KWH8 | 619 | 679 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 619 | 679 | 601 | 714 | Domain | Note=PI-PLC Y-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00271 |
| Q4KWH8 | 861 | 880 | 862 | 881 | Alternative sequence | ID=VSP_032902;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q4KWH8 | 861 | 880 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PLCH1 |
| 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 PLCH1 |
| - 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 PLCH1 |
| 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 PLCH1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_205894 | rs12696031 | chr3:155440695 | 3.872272e-04 | 2.770030e-02 |
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Correlation with RNA binding proteins (RBPs) for PLCH1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| HCC | MSI1 | exon_skip_205894 | -5.815958e-01 | 5.987044e-19 |
| HCC | RBMS2 | exon_skip_174687 | -4.737095e-01 | 1.299844e-15 |
| HCC | RBM6 | exon_skip_174687 | -4.716203e-01 | 1.798489e-15 |
| HCC | PTBP1 | exon_skip_174687 | -5.423291e-01 | 7.990189e-21 |
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RelatedDrugs for PLCH1 |
| 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 PLCH1 |
| 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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