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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 PLCH1 |
 Gene summary |
| Gene information | Gene symbol | PLCH1 | Gene ID | 23007 |
| Gene name | phospholipase C eta 1 | |
| Synonyms | PLCL3 | |
| Cytomap | 3q25.31 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1PLC eta 1PLC-L3phosphoinositide phospholipase C-eta-1phospholipase C-eta1aphospholipase C-eta1bphospholipase C-like 3phospholipase C-like protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q4KWH8 | |
| Context | PubMed: PLCH1 [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 |
| PLCH1 | GO:0048015 | phosphatidylinositol-mediated signaling | 15702972 |
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Exon skipping events across known transcript of Ensembl for PLCH1 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 PLCH1 |
| 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 PLCH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389492 | 3 | 155197670:155200840:155201137:155201165:155203144:155203494 | 155201137:155201165 | ENSG00000114805.12 | ENST00000447496.2 |
| exon_skip_389494 | 3 | 155203144:155203499:155203935:155203995:155205816:155205896 | 155203935:155203995 | ENSG00000114805.12 | ENST00000340059.7,ENST00000447496.2 |
| exon_skip_389495 | 3 | 155210517:155210642:155211929:155212037:155212126:155212306 | 155211929:155212037 | ENSG00000114805.12 | ENST00000340059.7,ENST00000447496.2,ENST00000414191.1,ENST00000460012.1,ENST00000469040.1,ENST00000334686.6,ENST00000494598.1 |
| exon_skip_389498 | 3 | 155211929:155212037:155212126:155212306:155215108:155215206 | 155212126:155212306 | ENSG00000114805.12 | ENST00000340059.7,ENST00000447496.2,ENST00000414191.1,ENST00000460012.1,ENST00000469040.1,ENST00000334686.6,ENST00000494598.1 |
| exon_skip_389499 | 3 | 155218491:155218583:155222343:155222415:155232511:155232673 | 155222343:155222415 | ENSG00000114805.12 | ENST00000340059.7,ENST00000447496.2,ENST00000414191.1,ENST00000460012.1,ENST00000334686.6,ENST00000494598.1 |
| exon_skip_389502 | 3 | 155222343:155222415:155232511:155232673:155241685:155241793 | 155232511:155232673 | ENSG00000114805.12 | ENST00000340059.7,ENST00000447496.2,ENST00000414191.1,ENST00000460012.1,ENST00000334686.6,ENST00000494598.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLCH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389492 | 3 | 155197670:155200840:155201137:155201165:155203144:155203494 | 155201137:155201165 | ENSG00000114805.12 | ENST00000447496.2 |
| exon_skip_389494 | 3 | 155203144:155203499:155203935:155203995:155205816:155205896 | 155203935:155203995 | ENSG00000114805.12 | ENST00000447496.2,ENST00000340059.7 |
| exon_skip_389495 | 3 | 155210517:155210642:155211929:155212037:155212126:155212306 | 155211929:155212037 | ENSG00000114805.12 | ENST00000494598.1,ENST00000460012.1,ENST00000447496.2,ENST00000340059.7,ENST00000334686.6,ENST00000414191.1,ENST00000469040.1 |
| exon_skip_389499 | 3 | 155218491:155218583:155222343:155222415:155232511:155232673 | 155222343:155222415 | ENSG00000114805.12 | ENST00000494598.1,ENST00000460012.1,ENST00000447496.2,ENST00000340059.7,ENST00000334686.6,ENST00000414191.1 |
| 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 PLCH1 |
| 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 |
| ENST00000340059 | 155203935 | 155203995 | In-frame |
| ENST00000340059 | 155211929 | 155212037 | In-frame |
| ENST00000340059 | 155212126 | 155212306 | In-frame |
| ENST00000340059 | 155222343 | 155222415 | In-frame |
| ENST00000340059 | 155232511 | 155232673 | 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 |
| ENST00000340059 | 155203935 | 155203995 | In-frame |
| ENST00000340059 | 155211929 | 155212037 | In-frame |
| ENST00000340059 | 155222343 | 155222415 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCH1 |
| 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 |
| ENST00000340059 | 6185 | 1693 | 155232511 | 155232673 | 1435 | 1596 | 478 | 532 |
| ENST00000340059 | 6185 | 1693 | 155222343 | 155222415 | 1597 | 1668 | 532 | 556 |
| ENST00000340059 | 6185 | 1693 | 155212126 | 155212306 | 1859 | 2038 | 619 | 679 |
| ENST00000340059 | 6185 | 1693 | 155211929 | 155212037 | 2039 | 2146 | 679 | 715 |
| ENST00000340059 | 6185 | 1693 | 155203935 | 155203995 | 2584 | 2643 | 861 | 881 |
| 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 |
| ENST00000340059 | 6185 | 1693 | 155222343 | 155222415 | 1597 | 1668 | 532 | 556 |
| ENST00000340059 | 6185 | 1693 | 155211929 | 155212037 | 2039 | 2146 | 679 | 715 |
| ENST00000340059 | 6185 | 1693 | 155203935 | 155203995 | 2584 | 2643 | 861 | 881 |
| 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 |
| Q4KWH8 | 478 | 532 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 532 | 556 | 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 | 679 | 715 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 679 | 715 | 601 | 714 | Domain | Note=PI-PLC Y-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00271 |
| Q4KWH8 | 861 | 881 | 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 | 881 | 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 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 |
| Q4KWH8 | 532 | 556 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 679 | 715 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
| Q4KWH8 | 679 | 715 | 601 | 714 | Domain | Note=PI-PLC Y-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00271 |
| Q4KWH8 | 861 | 881 | 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 | 881 | 1 | 1693 | Chain | ID=PRO_0000329007;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase eta-1 |
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SNVs in the skipped exons for PLCH1 |
| - 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_389495 | 155211930 | 155212037 | 155211945 | 155211945 | Frame_Shift_Del | G | - | p.Q694fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_389498 | 155212127 | 155212306 | 155212216 | 155212216 | Frame_Shift_Del | T | - | p.K632fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_389498 | 155212127 | 155212306 | 155212244 | 155212245 | Frame_Shift_Ins | - | T | p.S641fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_389498 | 155212127 | 155212306 | 155212245 | 155212246 | Frame_Shift_Ins | - | T | p.K640fs |
| SKCM | TCGA-Z2-A8RT-06 | exon_skip_389498 | 155212127 | 155212306 | 155212247 | 155212247 | Nonsense_Mutation | T | A | p.K622* |
| PAAD | TCGA-IB-7651-01 | exon_skip_389499 | 155222344 | 155222415 | 155222376 | 155222376 | Nonsense_Mutation | G | A | p.R528* |
| PAAD | TCGA-IB-7651-01 | exon_skip_389499 | 155222344 | 155222415 | 155222376 | 155222376 | Nonsense_Mutation | G | A | p.R546* |
| PAAD | TCGA-IB-7651-01 | exon_skip_389499 | 155222344 | 155222415 | 155222376 | 155222376 | Nonsense_Mutation | G | A | p.R546X |
| BRCA | TCGA-A2-A1FX-01 | exon_skip_389502 | 155232512 | 155232673 | 155232586 | 155232586 | Nonsense_Mutation | C | A | p.E508* |
| BLCA | TCGA-BT-A20J-01 | exon_skip_389502 | 155232512 | 155232673 | 155232674 | 155232674 | Splice_Site | C | G | p.S479_splice |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155211930 | 155212037 | 155211937 | 155211937 | Missense_Mutation | C | T | p.M713I |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155212127 | 155212306 | 155212186 | 155212186 | Missense_Mutation | T | C | p.Y660C |
| SNU81_LARGE_INTESTINE | 155212127 | 155212306 | 155212216 | 155212216 | Missense_Mutation | T | G | p.K650T |
| BFTC909_KIDNEY | 155212127 | 155212306 | 155212233 | 155212233 | Missense_Mutation | G | T | p.F644L |
| SNU719_STOMACH | 155212127 | 155212306 | 155212247 | 155212247 | Missense_Mutation | T | C | p.K640E |
| MDAMB415_BREAST | 155222344 | 155222415 | 155222384 | 155222384 | Missense_Mutation | G | A | p.S543L |
| A375_SKIN | 155222344 | 155222415 | 155222411 | 155222411 | Missense_Mutation | G | A | p.P534L |
| MEWO_SKIN | 155232512 | 155232673 | 155232607 | 155232607 | Missense_Mutation | C | T | p.E501K |
| HEC50B_ENDOMETRIUM | 155232512 | 155232673 | 155232648 | 155232648 | Missense_Mutation | A | G | p.V487A |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155212127 | 155212306 | 155212262 | 155212262 | Nonsense_Mutation | G | A | p.Q635* |
| HEC251_ENDOMETRIUM | 155232512 | 155232673 | 155232595 | 155232595 | Nonsense_Mutation | G | A | p.R505* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLCH1 |
| 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 PLCH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLCH1 |
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RelatedDrugs for PLCH1 |
| 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 PLCH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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