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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 PLCG1 |
 Gene summary |
| Gene information | Gene symbol | PLCG1 | Gene ID | 5335 |
| Gene name | phospholipase C gamma 1 | |
| Synonyms | NCKAP3|PLC-II|PLC1|PLC148|PLCgamma1 | |
| Cytomap | 20q12 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-11-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-148PLC-gamma-1inositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphatidylinositol phospholipase Cphosphoinosit | |
| Modification date | 20180522 | |
| UniProtAcc | P19174 | |
| Context | PubMed: PLCG1 [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 |
| PLCG1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
| PLCG1 | GO:0045766 | positive regulation of angiogenesis | 20011604 |
| PLCG1 | GO:0071364 | cellular response to epidermal growth factor stimulus | 17229814 |
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Exon skipping events across known transcript of Ensembl for PLCG1 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 PLCG1 |
| 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 PLCG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351891 | 20 | 39791091:39791176:39791281:39791365:39791597:39791632 | 39791281:39791365 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351892 | 20 | 39791281:39791365:39791597:39791632:39791842:39791915 | 39791597:39791632 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351896 | 20 | 39794089:39794191:39794278:39794466:39794833:39795034 | 39794278:39794466 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351898 | 20 | 39795115:39795235:39795318:39795499:39796491:39796569 | 39795318:39795499 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351903 | 20 | 39795318:39795499:39796491:39796569:39797406:39797510 | 39796491:39796569 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351908 | 20 | 39797718:39797815:39798096:39798166:39798751:39798909 | 39798096:39798166 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000477870.1,ENST00000483175.1,ENST00000373272.2 |
| exon_skip_351916 | 20 | 39798828:39798909:39800832:39800929:39801060:39801285 | 39800832:39800929 | ENSG00000124181.10 | ENST00000373271.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351923 | 20 | 39801368:39801517:39802059:39802174:39802291:39802453 | 39802059:39802174 | ENSG00000124181.10 | ENST00000461641.1,ENST00000373271.1,ENST00000244007.3,ENST00000599785.1,ENST00000373272.2,ENST00000608885.1,ENST00000608689.1 |
| exon_skip_351925 | 20 | 39802562:39802651:39802763:39802951:39803106:39803179 | 39802763:39802951 | ENSG00000124181.10 | ENST00000609821.1,ENST00000244007.3,ENST00000373272.2 |
| exon_skip_351928 | 20 | 39802562:39802651:39802766:39802951:39803106:39803179 | 39802766:39802951 | ENSG00000124181.10 | ENST00000373271.1,ENST00000609257.1,ENST00000607954.1 |
| exon_skip_351934 | 20 | 39803106:39803607:39809143:39809304:39811570:39811600 | 39809143:39809304 | ENSG00000124181.10 | ENST00000607954.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLCG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351891 | 20 | 39791091:39791176:39791281:39791365:39791597:39791632 | 39791281:39791365 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351892 | 20 | 39791281:39791365:39791597:39791632:39791842:39791915 | 39791597:39791632 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351896 | 20 | 39794089:39794191:39794278:39794466:39794833:39795034 | 39794278:39794466 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351898 | 20 | 39795115:39795235:39795318:39795499:39796491:39796569 | 39795318:39795499 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351903 | 20 | 39795318:39795499:39796491:39796569:39797406:39797510 | 39796491:39796569 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351908 | 20 | 39797718:39797815:39798096:39798166:39798751:39798909 | 39798096:39798166 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2,ENST00000477870.1,ENST00000483175.1 |
| exon_skip_351916 | 20 | 39798828:39798909:39800832:39800929:39801060:39801285 | 39800832:39800929 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2 |
| exon_skip_351923 | 20 | 39801368:39801517:39802059:39802174:39802291:39802453 | 39802059:39802174 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373271.1,ENST00000373272.2,ENST00000599785.1,ENST00000461641.1,ENST00000608689.1,ENST00000608885.1 |
| exon_skip_351925 | 20 | 39802562:39802651:39802763:39802951:39803106:39803179 | 39802763:39802951 | ENSG00000124181.10 | ENST00000244007.3,ENST00000373272.2,ENST00000609821.1 |
| exon_skip_351926 | 20 | 39802562:39802651:39802763:39802951:39811570:39811629 | 39802763:39802951 | ENSG00000124181.10 | ENST00000608689.1 |
| exon_skip_351928 | 20 | 39802562:39802651:39802766:39802951:39803106:39803179 | 39802766:39802951 | ENSG00000124181.10 | ENST00000373271.1,ENST00000609257.1,ENST00000607954.1 |
| exon_skip_351931 | 20 | 39802562:39802651:39809143:39809304:39811570:39811629 | 39809143:39809304 | ENSG00000124181.10 | ENST00000608885.1 |
| exon_skip_351933 | 20 | 39803106:39803607:39804392:39804460:39811570:39811600 | 39804392:39804460 | ENSG00000124181.10 | ENST00000609257.1 |
| exon_skip_351934 | 20 | 39803106:39803607:39809143:39809304:39811570:39811600 | 39809143:39809304 | ENSG00000124181.10 | ENST00000607954.1 |
| 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 PLCG1 |
| 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 |
| ENST00000373271 | 39791597 | 39791632 | Frame-shift |
| ENST00000373271 | 39794278 | 39794466 | Frame-shift |
| ENST00000373271 | 39795318 | 39795499 | Frame-shift |
| ENST00000373271 | 39798096 | 39798166 | Frame-shift |
| ENST00000373271 | 39800832 | 39800929 | Frame-shift |
| ENST00000373271 | 39802059 | 39802174 | Frame-shift |
| ENST00000373271 | 39802766 | 39802951 | Frame-shift |
| ENST00000373271 | 39791281 | 39791365 | In-frame |
| ENST00000373271 | 39796491 | 39796569 | 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 |
| ENST00000373271 | 39791597 | 39791632 | Frame-shift |
| ENST00000373271 | 39794278 | 39794466 | Frame-shift |
| ENST00000373271 | 39795318 | 39795499 | Frame-shift |
| ENST00000373271 | 39798096 | 39798166 | Frame-shift |
| ENST00000373271 | 39800832 | 39800929 | Frame-shift |
| ENST00000373271 | 39802059 | 39802174 | Frame-shift |
| ENST00000373271 | 39802766 | 39802951 | Frame-shift |
| ENST00000373271 | 39791281 | 39791365 | In-frame |
| ENST00000373271 | 39796491 | 39796569 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCG1 |
| 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 |
| ENST00000373271 | 5507 | 1290 | 39791281 | 39791365 | 1003 | 1086 | 199 | 227 |
| ENST00000373271 | 5507 | 1290 | 39796491 | 39796569 | 2707 | 2784 | 767 | 793 |
| 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 |
| ENST00000373271 | 5507 | 1290 | 39791281 | 39791365 | 1003 | 1086 | 199 | 227 |
| ENST00000373271 | 5507 | 1290 | 39796491 | 39796569 | 2707 | 2784 | 767 | 793 |
| 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 |
| P19174 | 199 | 227 | 2 | 1290 | Chain | ID=PRO_0000088498;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase gamma-1 |
| P19174 | 199 | 227 | 209 | 209 | Natural variant | ID=VAR_025213;Note=T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs2229348 |
| P19174 | 767 | 793 | 792 | 794 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HSQ |
| P19174 | 767 | 793 | 2 | 1290 | Chain | ID=PRO_0000088498;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase gamma-1 |
| P19174 | 767 | 793 | 791 | 851 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| P19174 | 767 | 793 | 771 | 771 | Modified residue | Note=Phosphotyrosine%3B by SYK;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:20494825,ECO:0000269|PubMed:8657103;Dbxref=PMID:15144186,PMID:19690332,PMID:20 |
| P19174 | 767 | 793 | 775 | 775 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| P19174 | 767 | 793 | 783 | 783 | Modified residue | Note=Phosphotyrosine%3B by ITK%2C SYK and TXK;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:11564877,ECO:0000269|PubMed:15215251,ECO:0000269|PubMed:8657103;Dbxref=PMID:19690332,PMID: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 |
| P19174 | 199 | 227 | 2 | 1290 | Chain | ID=PRO_0000088498;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase gamma-1 |
| P19174 | 199 | 227 | 209 | 209 | Natural variant | ID=VAR_025213;Note=T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs2229348 |
| P19174 | 767 | 793 | 792 | 794 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HSQ |
| P19174 | 767 | 793 | 2 | 1290 | Chain | ID=PRO_0000088498;Note=1-phosphatidylinositol 4%2C5-bisphosphate phosphodiesterase gamma-1 |
| P19174 | 767 | 793 | 791 | 851 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| P19174 | 767 | 793 | 771 | 771 | Modified residue | Note=Phosphotyrosine%3B by SYK;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:15144186,ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:20494825,ECO:0000269|PubMed:8657103;Dbxref=PMID:15144186,PMID:19690332,PMID:20 |
| P19174 | 767 | 793 | 775 | 775 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| P19174 | 767 | 793 | 783 | 783 | Modified residue | Note=Phosphotyrosine%3B by ITK%2C SYK and TXK;Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000269|PubMed:11564877,ECO:0000269|PubMed:15215251,ECO:0000269|PubMed:8657103;Dbxref=PMID:19690332,PMID:1 |
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SNVs in the skipped exons for PLCG1 |
| - 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. |
PLCG1_BRCA_exon_skip_351903_psi_boxplot.png |
PLCG1_BRCA_exon_skip_351925_psi_boxplot.png |
PLCG1_BRCA_exon_skip_351928_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 |
| UCEC | TCGA-D1-A174-01 | exon_skip_351892 | 39791598 | 39791632 | 39791606 | 39791606 | Frame_Shift_Del | C | - | p.L230fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_351896 | 39794279 | 39794466 | 39794394 | 39794394 | Frame_Shift_Del | C | - | p.T576fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_351898 | 39795319 | 39795499 | 39795461 | 39795461 | Frame_Shift_Del | C | - | p.P755fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_351908 | 39798097 | 39798166 | 39798114 | 39798114 | Frame_Shift_Del | C | - | p.S866fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_351908 | 39798097 | 39798166 | 39798114 | 39798114 | Frame_Shift_Del | C | - | p.S866fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_351908 | 39798097 | 39798166 | 39798134 | 39798134 | Frame_Shift_Del | G | - | p.R873fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_351908 | 39798097 | 39798166 | 39798133 | 39798134 | Frame_Shift_Ins | - | G | p.G873fs |
| ESCA | TCGA-LN-A4A2-01 | exon_skip_351916 | 39800833 | 39800929 | 39800921 | 39800922 | Frame_Shift_Ins | - | G | p.D966fs |
| ESCA | TCGA-LN-A4A2-01 | exon_skip_351916 | 39800833 | 39800929 | 39800921 | 39800922 | Frame_Shift_Ins | - | G | p.G966fs |
| BRCA | TCGA-AN-A0FY-01 | exon_skip_351928 exon_skip_351925 | 39802764 | 39802951 | 39802848 | 39802848 | Nonsense_Mutation | C | T | p.R1244* |
| BRCA | TCGA-AN-A0FY-01 | exon_skip_351928 exon_skip_351925 | 39802767 | 39802951 | 39802848 | 39802848 | Nonsense_Mutation | C | T | p.R1244* |
| UCEC | TCGA-D1-A17M-01 | exon_skip_351928 exon_skip_351925 | 39802764 | 39802951 | 39802848 | 39802848 | Nonsense_Mutation | C | T | p.R1243* |
| UCEC | TCGA-D1-A17M-01 | exon_skip_351928 exon_skip_351925 | 39802767 | 39802951 | 39802848 | 39802848 | Nonsense_Mutation | C | T | p.R1243* |
| GBM | TCGA-76-6282-01 | exon_skip_351896 | 39794279 | 39794466 | 39794468 | 39794468 | Splice_Site | T | C | p.W600_splice |
| BRCA | TCGA-BH-A0DH-01 | exon_skip_351903 | 39796492 | 39796569 | 39796490 | 39796490 | Splice_Site | A | G | e20-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AN-A0FY-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_351925 | |
| Skipped exon start: 39802767 | |
| Skipped exon end: 39802951 | |
| Mutation start: 39802848 | |
| Mutation end: 39802848 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1244* | |
| Sample: TCGA-AN-A0FY-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_351925 | |
| Skipped exon start: 39802764 | |
| Skipped exon end: 39802951 | |
| Mutation start: 39802848 | |
| Mutation end: 39802848 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1244* | |
exon_skip_351925_BRCA_TCGA-AN-A0FY-01.png | |
exon_skip_351928_BRCA_TCGA-AN-A0FY-01.png | |
 | Sample: TCGA-AN-A0FY-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_351925 | |
| Skipped exon start: 39802767 | |
| Skipped exon end: 39802951 | |
| Mutation start: 39802848 | |
| Mutation end: 39802848 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1244* | |
| Sample: TCGA-AN-A0FY-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_351925 | |
| Skipped exon start: 39802764 | |
| Skipped exon end: 39802951 | |
| Mutation start: 39802848 | |
| Mutation end: 39802848 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R1244* | |
| exon_skip_351925_BRCA_TCGA-AN-A0FY-01.png | |
| exon_skip_351928_BRCA_TCGA-AN-A0FY-01.png | |
 | Sample: TCGA-BH-A0DH-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_351903 | |
| Skipped exon start: 39796492 | |
| Skipped exon end: 39796569 | |
| Mutation start: 39796490 | |
| Mutation end: 39796490 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: e20-2 | |
exon_skip_351903_BRCA_TCGA-BH-A0DH-01.png | |
exon_skip_433003_BRCA_TCGA-BH-A0DH-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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 39791598 | 39791632 | 39791623 | 39791624 | Frame_Shift_Del | GT | - | p.S236fs |
| HEC151_ENDOMETRIUM | 39798097 | 39798166 | 39798114 | 39798114 | Frame_Shift_Del | C | - | p.S866fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 39791598 | 39791632 | 39791625 | 39791626 | Frame_Shift_Ins | - | CG | p.T237fs |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39791282 | 39791365 | 39791337 | 39791337 | Missense_Mutation | G | A | p.R218H |
| UW228_CENTRAL_NERVOUS_SYSTEM | 39791282 | 39791365 | 39791355 | 39791355 | Missense_Mutation | C | T | p.A224V |
| MDST8_LARGE_INTESTINE | 39794279 | 39794466 | 39794321 | 39794321 | Missense_Mutation | C | T | p.H552Y |
| COLO792_SKIN | 39794279 | 39794466 | 39794345 | 39794345 | Missense_Mutation | G | A | p.D560N |
| KM12_LARGE_INTESTINE | 39794279 | 39794466 | 39794403 | 39794403 | Missense_Mutation | C | T | p.P579L |
| HCC1395_BREAST | 39794279 | 39794466 | 39794412 | 39794412 | Missense_Mutation | C | G | p.S582C |
| SW900_LUNG | 39795319 | 39795499 | 39795380 | 39795380 | Missense_Mutation | A | T | p.N728Y |
| SNU398_LIVER | 39795319 | 39795499 | 39795470 | 39795470 | Missense_Mutation | G | A | p.E758K |
| HEC1_ENDOMETRIUM | 39796492 | 39796569 | 39796522 | 39796522 | Missense_Mutation | C | T | p.R778C |
| MDST8_LARGE_INTESTINE | 39796492 | 39796569 | 39796543 | 39796543 | Missense_Mutation | G | A | p.E785K |
| NCIH513_PLEURA | 39798097 | 39798166 | 39798161 | 39798161 | Missense_Mutation | A | T | p.Q882L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39802060 | 39802174 | 39802075 | 39802075 | Missense_Mutation | C | T | p.H1099Y |
| C125PM_LARGE_INTESTINE | 39802767 | 39802951 | 39802779 | 39802779 | Missense_Mutation | C | T | p.L1220F |
| C125PM_LARGE_INTESTINE | 39802764 | 39802951 | 39802779 | 39802779 | Missense_Mutation | C | T | p.L1220F |
| LOVO_LARGE_INTESTINE | 39802767 | 39802951 | 39802798 | 39802798 | Missense_Mutation | C | T | p.T1226M |
| LOVO_LARGE_INTESTINE | 39802764 | 39802951 | 39802798 | 39802798 | Missense_Mutation | C | T | p.T1226M |
| HEC108_ENDOMETRIUM | 39802767 | 39802951 | 39802807 | 39802807 | Missense_Mutation | G | T | p.R1229L |
| HEC108_ENDOMETRIUM | 39802764 | 39802951 | 39802807 | 39802807 | Missense_Mutation | G | T | p.R1229L |
| NCIH1651_LUNG | 39802767 | 39802951 | 39802842 | 39802842 | Missense_Mutation | C | T | p.H1241Y |
| NCIH1651_LUNG | 39802764 | 39802951 | 39802842 | 39802842 | Missense_Mutation | C | T | p.H1241Y |
| KNS62_LUNG | 39802767 | 39802951 | 39802876 | 39802876 | Missense_Mutation | G | A | p.R1252H |
| KNS62_LUNG | 39802764 | 39802951 | 39802876 | 39802876 | Missense_Mutation | G | A | p.R1252H |
| KYAE1_OESOPHAGUS | 39802767 | 39802951 | 39802876 | 39802876 | Missense_Mutation | G | A | p.R1252H |
| KYAE1_OESOPHAGUS | 39802764 | 39802951 | 39802876 | 39802876 | Missense_Mutation | G | A | p.R1252H |
| MET2B | 39802767 | 39802951 | 39802879 | 39802879 | Missense_Mutation | A | T | p.Y1253F |
| MET2B | 39802764 | 39802951 | 39802879 | 39802879 | Missense_Mutation | A | T | p.Y1253F |
| SNU175_LARGE_INTESTINE | 39802767 | 39802951 | 39802923 | 39802923 | Missense_Mutation | G | A | p.A1268T |
| SNU175_LARGE_INTESTINE | 39802764 | 39802951 | 39802923 | 39802923 | Missense_Mutation | G | A | p.A1268T |
| UO31_KIDNEY | 39802767 | 39802951 | 39802944 | 39802944 | Missense_Mutation | G | C | p.E1275Q |
| UO31_KIDNEY | 39802764 | 39802951 | 39802944 | 39802944 | Missense_Mutation | G | C | p.E1275Q |
| C10_LARGE_INTESTINE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| C84_LARGE_INTESTINE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| CASKI_CERVIX | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| CME1_SOFT_TISSUE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| EGI1_BILIARY_TRACT | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| HCC2450_LUNG | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| JAR_PLACENTA | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| MERO48A_LUNG | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| SAOS2_BONE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| Y79_AUTONOMIC_GANGLIA | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
| YAMATO_SOFT_TISSUE | 39802060 | 39802174 | 39802117 | 39802117 | Nonsense_Mutation | G | T | p.E1113* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLCG1 |
| 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 PLCG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLCG1 |
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RelatedDrugs for PLCG1 |
| 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 PLCG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLCG1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| PLCG1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| PLCG1 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| PLCG1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
| PLCG1 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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