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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 PLCB1 |
 Gene summary |
| Gene information | Gene symbol | PLCB1 | Gene ID | 23236 |
| Gene name | phospholipase C beta 1 | |
| Synonyms | EIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B | |
| Cytomap | 20p12.3 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-11-phosphatidyl-D-myo-inositol-4,5-bisphosphateinositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphoinositidase Cphosphoinositide phospholipase Cphospholipase C, | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WT80, A0A087WW73, A0A0D9SF51, A0A0D9SFA6, A0A0D9SFE7, A0A0D9SFJ4, A0A0D9SG17, A0A0D9SGI7, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PLCB1 | GO:0035722 | interleukin-12-mediated signaling pathway | 11743656 |
| PLCB1 | GO:0035723 | interleukin-15-mediated signaling pathway | 11743656 |
| PLCB1 | GO:0046330 | positive regulation of JNK cascade | 9500449 |
| PLCB1 | GO:0070498 | interleukin-1-mediated signaling pathway | 8872139 |
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Gene structures and expression levels for PLCB1 |
| 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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ENSG00000182621
| 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 |
| PCC | UP | ENST00000637935.1 | PLCB1-234:protein_coding:PLCB1 | 1.651620e+02 | 1.320626e+00 | 4.206822e-04 | 1.478259e-02 |
| PG | DOWN | ENST00000636319.1 | PLCB1-224:nonsense_mediated_decay:PLCB1 | 2.586834e+01 | -8.829680e-01 | 1.674836e-05 | 7.353925e-04 |
| PG | DOWN | ENST00000636825.1 | PLCB1-227:lncRNA:PLCB1 | 1.309815e+02 | -1.076763e+00 | 1.443506e-03 | 1.895118e-02 |
| CB | UP | ENST00000338037.11 | PLCB1-201:protein_coding:PLCB1 | 1.384972e+02 | 1.290438e+00 | 7.616531e-03 | 2.781051e-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 PLCB1 |
| 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_101626 | chr20 | 8962308:8962336:8962486:8963010:8965096:8965151 | 8962486:8963010 |
| exon_skip_134258 | chr20 | 8649374:8649449:8657184:8657284:8658538:8658682 | 8657184:8657284 |
| exon_skip_137618 | chr20 | 8790175:8790261:8802056:8802173:8881622:8883014 | 8802056:8802173 |
| exon_skip_148172 | chr20 | 8962196:8962336:8962893:8963010:8965096:8965151 | 8962893:8963010 |
| exon_skip_181640 | chr20 | 8790175:8790261:8802056:8802173:8881622:8882018 | 8802056:8802173 |
| exon_skip_211767 | chr20 | 8658621:8658704:8684932:8685078:8697626:8697783 | 8684932:8685078 |
| exon_skip_220281 | chr20 | 8790175:8790261:8802056:8802173:8881622:8881839 | 8802056:8802173 |
| exon_skip_231187 | chr20 | 8741464:8741573:8750804:8750915:8751122:8752348 | 8750804:8750915 |
| exon_skip_256613 | chr20 | 8649394:8649449:8657184:8657284:8658538:8658555 | 8657184:8657284 |
| exon_skip_285169 | chr20 | 8757046:8757178:8760407:8760460:8765139:8765358 | 8760407:8760460 |
| exon_skip_292147 | chr20 | 8962308:8962336:8962893:8963010:8965096:8965151 | 8962893:8963010 |
| exon_skip_32614 | chr20 | 8647900:8647953:8649374:8649449:8658538:8658555 | 8649374:8649449 |
| exon_skip_35023 | chr20 | 8757046:8757178:8760407:8760460:8765139:8765356 | 8760407:8760460 |
| exon_skip_65172 | chr20 | 8790175:8790261:8802056:8802173:8881622:8884896 | 8802056:8802173 |
| exon_skip_78830 | chr20 | 8790175:8790261:8802056:8802173:8881622:8881815 | 8802056:8802173 |
| 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 PLCB1 |
| 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 |
| ENST00000338037 | 8657184 | 8657284 | Frame-shift |
| ENST00000338037 | 8684932 | 8685078 | In-frame |
| ENST00000338037 | 8760407 | 8760460 | 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 |
| ENST00000338037 | 8657184 | 8657284 | Frame-shift |
| ENST00000338037 | 8684932 | 8685078 | In-frame |
| ENST00000338037 | 8760407 | 8760460 | 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 |
| ENST00000338037 | 8657184 | 8657284 | Frame-shift |
| ENST00000338037 | 8684932 | 8685078 | In-frame |
| ENST00000338037 | 8760407 | 8760460 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCB1 |
p-ENSG00000182621_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 |
| ENST00000338037 | 7109 | 1216 | 8684932 | 8685078 | 1251 | 1396 | 288 | 336 |
| ENST00000338037 | 7109 | 1216 | 8760407 | 8760460 | 3045 | 3097 | 886 | 903 |
| 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 |
| ENST00000338037 | 7109 | 1216 | 8684932 | 8685078 | 1251 | 1396 | 288 | 336 |
| ENST00000338037 | 7109 | 1216 | 8760407 | 8760460 | 3045 | 3097 | 886 | 903 |
| 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 |
| ENST00000338037 | 7109 | 1216 | 8684932 | 8685078 | 1251 | 1396 | 288 | 336 |
| ENST00000338037 | 7109 | 1216 | 8760407 | 8760460 | 3045 | 3097 | 886 | 903 |
| 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 |
| Q9NQ66 | 288 | 336 | 331 | 331 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 288 | 336 | 316 | 467 | Domain | Note=PI-PLC X-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 309 | 309 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 288 | 336 | 320 | 320 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 886 | 903 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 886 | 903 | 887 | 887 | Modified residue | Note=Phosphoserine%3B by PKC;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10894 |
| 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 |
| Q9NQ66 | 288 | 336 | 331 | 331 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 288 | 336 | 316 | 467 | Domain | Note=PI-PLC X-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 309 | 309 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 288 | 336 | 320 | 320 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 886 | 903 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 886 | 903 | 887 | 887 | Modified residue | Note=Phosphoserine%3B by PKC;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10894 |
| 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 |
| Q9NQ66 | 288 | 336 | 331 | 331 | Active site | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 288 | 336 | 316 | 467 | Domain | Note=PI-PLC X-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00270 |
| Q9NQ66 | 288 | 336 | 309 | 309 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 288 | 336 | 320 | 320 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NQ66 | 886 | 903 | 1 | 1216 | Chain | ID=PRO_0000088486;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase beta-1 |
| Q9NQ66 | 886 | 903 | 887 | 887 | Modified residue | Note=Phosphoserine%3B by PKC;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P10894 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PLCB1 |
| 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 PLCB1 |
| - 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 PLCB1 |
| 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 PLCB1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_256613 | rs6039205 | chr20:8591287 | 1.019212e-05 | 2.633686e-03 |
| CB | exon_skip_256613 | rs6055922 | chr20:8584320 | 1.489738e-05 | 3.654422e-03 |
| CB | exon_skip_256613 | rs6055944 | chr20:8608924 | 1.495449e-05 | 3.663125e-03 |
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Correlation with RNA binding proteins (RBPs) for PLCB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_65172 | -4.333940e-01 | 1.688840e-07 |
| CB | HNRNPA2B1 | exon_skip_65172 | -4.233619e-01 | 3.457712e-07 |
| HCC | PCBP4 | exon_skip_65172 | 4.895401e-01 | 1.284868e-17 |
| HCC | SRSF5 | exon_skip_65172 | 4.420621e-01 | 2.691261e-14 |
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RelatedDrugs for PLCB1 |
| 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 PLCB1 |
| 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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