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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 PLCG2 |
 Gene summary |
| Gene information | Gene symbol | PLCG2 | Gene ID | 5336 |
| Gene name | phospholipase C gamma 2 | |
| Synonyms | APLAID|FCAS3|PLC-IV|PLC-gamma-2 | |
| Cytomap | 16q23.3 | |
| Type of gene | protein-coding | |
| Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2phosphoinositide phospholipase C-gamma-2phospholipase C, gamma 2 (phosphatidylinositol-specific)phospholipase C-IV | |
| Modification date | 20180519 | |
| UniProtAcc | P16885 | |
| Context | PubMed: PLCG2 [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 |
| PLCG2 | GO:0006661 | phosphatidylinositol biosynthetic process | 11606584|12181444 |
| PLCG2 | GO:0051209 | release of sequestered calcium ion into cytosol | 11606584 |
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Exon skipping events across known transcript of Ensembl for PLCG2 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 PLCG2 |
| 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 PLCG2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138921 | 16 | 81819547:81819787:81888048:81888192:81891867:81891961 | 81888048:81888192 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3,ENST00000565054.1 |
| exon_skip_138922 | 16 | 81888048:81888192:81891867:81891961:81892720:81892768 | 81891867:81891961 | ENSG00000197943.5 | ENST00000565400.1,ENST00000567980.1,ENST00000359376.3,ENST00000569523.1,ENST00000565054.1 |
| exon_skip_138923 | 16 | 81888048:81888192:81892720:81892768:81902818:81902838 | 81892720:81892768 | ENSG00000197943.5 | ENST00000569929.1 |
| exon_skip_138925 | 16 | 81914514:81914558:81916873:81916946:81922776:81922878 | 81916873:81916946 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3 |
| exon_skip_138927 | 16 | 81925135:81925195:81927313:81927399:81929411:81929532 | 81927313:81927399 | ENSG00000197943.5 | ENST00000567980.1,ENST00000563193.1,ENST00000562605.1,ENST00000359376.3 |
| exon_skip_138929 | 16 | 81929411:81929532:81934216:81934385:81939007:81939112 | 81934216:81934385 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3,ENST00000570198.1 |
| exon_skip_138931 | 16 | 81934216:81934385:81939007:81939112:81941289:81941379 | 81939007:81939112 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3 |
| exon_skip_138932 | 16 | 81939007:81939112:81941289:81941379:81942020:81942196 | 81941289:81941379 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3 |
| exon_skip_138933 | 16 | 81942020:81942196:81944124:81944325:81946201:81946321 | 81944124:81944325 | ENSG00000197943.5 | ENST00000567980.1,ENST00000359376.3 |
| exon_skip_138934 | 16 | 81954802:81954874:81957089:81957199:81960686:81960783 | 81957089:81957199 | ENSG00000197943.5 | ENST00000359376.3 |
| exon_skip_138936 | 16 | 81965101:81965259:81968033:81968136:81969773:81969815 | 81968033:81968136 | ENSG00000197943.5 | ENST00000563269.1,ENST00000359376.3 |
| exon_skip_138939 | 16 | 81973496:81973664:81979779:81979868:81990299:81990335 | 81979779:81979868 | ENSG00000197943.5 | ENST00000567356.1,ENST00000359376.3 |
| exon_skip_138942 | 16 | 81979779:81979868:81990299:81990484:81991560:81991899 | 81990299:81990484 | ENSG00000197943.5 | ENST00000359376.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLCG2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138922 | 16 | 81888048:81888192:81891867:81891961:81892720:81892768 | 81891867:81891961 | ENSG00000197943.5 | ENST00000565054.1,ENST00000359376.3,ENST00000567980.1,ENST00000565400.1,ENST00000569523.1 |
| exon_skip_138923 | 16 | 81888048:81888192:81892720:81892768:81902818:81902838 | 81892720:81892768 | ENSG00000197943.5 | ENST00000569929.1 |
| exon_skip_138925 | 16 | 81914514:81914558:81916873:81916946:81922776:81922878 | 81916873:81916946 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1 |
| exon_skip_138927 | 16 | 81925135:81925195:81927313:81927399:81929411:81929532 | 81927313:81927399 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1,ENST00000563193.1,ENST00000562605.1 |
| exon_skip_138929 | 16 | 81929411:81929532:81934216:81934385:81939007:81939112 | 81934216:81934385 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1,ENST00000570198.1 |
| exon_skip_138931 | 16 | 81934216:81934385:81939007:81939112:81941289:81941379 | 81939007:81939112 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1 |
| exon_skip_138932 | 16 | 81939007:81939112:81941289:81941379:81942020:81942196 | 81941289:81941379 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1 |
| exon_skip_138933 | 16 | 81942020:81942196:81944124:81944325:81946201:81946321 | 81944124:81944325 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567980.1 |
| exon_skip_138934 | 16 | 81954802:81954874:81957089:81957199:81960686:81960783 | 81957089:81957199 | ENSG00000197943.5 | ENST00000359376.3 |
| exon_skip_138936 | 16 | 81965101:81965259:81968033:81968136:81969773:81969815 | 81968033:81968136 | ENSG00000197943.5 | ENST00000359376.3,ENST00000563269.1 |
| exon_skip_138939 | 16 | 81973496:81973664:81979779:81979868:81990299:81990335 | 81979779:81979868 | ENSG00000197943.5 | ENST00000359376.3,ENST00000567356.1 |
| exon_skip_138942 | 16 | 81979779:81979868:81990299:81990484:81991560:81991899 | 81990299:81990484 | ENSG00000197943.5 | ENST00000359376.3 |
| 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 PLCG2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PLCG2 |
| 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 |
| 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 |
| 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 PLCG2 |
| - 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-DD-A3A0-01 | exon_skip_138931 | 81939008 | 81939112 | 81939022 | 81939022 | Frame_Shift_Del | C | - | p.G459fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_138931 | 81939008 | 81939112 | 81939079 | 81939079 | Frame_Shift_Del | G | - | p.Q478fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_138931 | 81939008 | 81939112 | 81939079 | 81939079 | Frame_Shift_Del | G | - | p.Q478fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_138933 | 81944125 | 81944325 | 81944178 | 81944178 | Frame_Shift_Del | C | - | p.T596fs |
| KIRC | TCGA-BP-4994-01 | exon_skip_138933 | 81944125 | 81944325 | 81944242 | 81944242 | Frame_Shift_Del | C | - | p.Y617fs |
| HNSC | TCGA-BA-6872-01 | exon_skip_138934 | 81957090 | 81957199 | 81957192 | 81957192 | Frame_Shift_Del | G | - | p.G804fs |
| HNSC | TCGA-BA-6872-01 | exon_skip_138934 | 81957090 | 81957199 | 81957192 | 81957192 | Frame_Shift_Del | G | - | p.G805fs |
| COAD | TCGA-G4-6586-01 | exon_skip_138936 | 81968034 | 81968136 | 81968118 | 81968118 | Frame_Shift_Del | A | - | p.S941fs |
| COAD | TCGA-AA-3492-01 | exon_skip_138929 | 81934217 | 81934385 | 81934352 | 81934353 | Frame_Shift_Ins | - | C | p.S443fs |
| HNSC | TCGA-CR-5243-01 | exon_skip_138933 | 81944125 | 81944325 | 81944307 | 81944308 | Frame_Shift_Ins | - | C | p.T639fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_138921 | 81888049 | 81888192 | 81888069 | 81888069 | Nonsense_Mutation | G | T | p.E72* |
| ESCA | TCGA-L5-A8NJ-01 | exon_skip_138931 | 81939008 | 81939112 | 81939050 | 81939050 | Nonsense_Mutation | G | T | p.E469X |
| LGG | TCGA-DU-A7TD-01 | exon_skip_138934 | 81957090 | 81957199 | 81957132 | 81957132 | Nonsense_Mutation | C | T | p.R784* |
| THYM | TCGA-X7-A8DJ-01 | 81990300 | 81990484 | 81990468 | 81990468 | Nonsense_Mutation | G | T | p.E1247X | |
| UCEC | TCGA-AP-A059-01 | exon_skip_138933 | 81944125 | 81944325 | 81944326 | 81944326 | Splice_Site | G | A | e17+1 |
| UCEC | TCGA-D1-A103-01 | exon_skip_138933 | 81944125 | 81944325 | 81944326 | 81944326 | Splice_Site | G | A | e17+1 |
| - 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 |
| HCT15_LARGE_INTESTINE | 81990300 | 81990484 | 81990349 | 81990351 | In_Frame_Del | AAG | - | p.E1209del |
| HRT18_LARGE_INTESTINE | 81990300 | 81990484 | 81990349 | 81990351 | In_Frame_Del | AAG | - | p.E1209del |
| RCC10RGB_KIDNEY | 81888049 | 81888192 | 81888076 | 81888076 | Missense_Mutation | G | T | p.R74L |
| CORL88_LUNG | 81888049 | 81888192 | 81888093 | 81888093 | Missense_Mutation | A | G | p.K80E |
| SNU81_LARGE_INTESTINE | 81891868 | 81891961 | 81891911 | 81891911 | Missense_Mutation | A | C | p.K127N |
| MERO84_LUNG | 81891868 | 81891961 | 81891951 | 81891951 | Missense_Mutation | A | G | p.I141V |
| SNU81_LARGE_INTESTINE | 81892721 | 81892768 | 81892729 | 81892729 | Missense_Mutation | G | T | p.R147I |
| GI1_CENTRAL_NERVOUS_SYSTEM | 81939008 | 81939112 | 81939012 | 81939012 | Missense_Mutation | A | G | p.K456R |
| CW2_LARGE_INTESTINE | 81939008 | 81939112 | 81939048 | 81939048 | Missense_Mutation | T | C | p.M468T |
| NCIH187_LUNG | 81941290 | 81941379 | 81941300 | 81941300 | Missense_Mutation | G | A | p.R493Q |
| SNU407_LARGE_INTESTINE | 81944125 | 81944325 | 81944156 | 81944156 | Missense_Mutation | C | T | p.R589C |
| TGW_AUTONOMIC_GANGLIA | 81944125 | 81944325 | 81944180 | 81944180 | Missense_Mutation | C | G | p.L597V |
| SUM159PT_BREAST | 81944125 | 81944325 | 81944228 | 81944228 | Missense_Mutation | C | T | p.L613F |
| JOPACA1_PANCREAS | 81944125 | 81944325 | 81944259 | 81944259 | Missense_Mutation | G | A | p.R623H |
| HCC2998_LARGE_INTESTINE | 81944125 | 81944325 | 81944270 | 81944270 | Missense_Mutation | T | C | p.F627L |
| OAW28_OVARY | 81944125 | 81944325 | 81944273 | 81944273 | Missense_Mutation | G | C | p.E628Q |
| CCLFPEDS0008T_SOFT_TISSUE | 81944125 | 81944325 | 81944275 | 81944275 | Missense_Mutation | G | C | p.E628D |
| MDAMB415_BREAST | 81968034 | 81968136 | 81968045 | 81968045 | Missense_Mutation | G | C | p.M917I |
| S117_SOFT_TISSUE | 81968034 | 81968136 | 81968059 | 81968059 | Missense_Mutation | A | G | p.K922R |
| SNU407_LARGE_INTESTINE | 81968034 | 81968136 | 81968073 | 81968073 | Missense_Mutation | G | A | p.A927T |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 81968034 | 81968136 | 81968086 | 81968086 | Missense_Mutation | C | G | p.S931C |
| MESSA_SOFT_TISSUE | 81979780 | 81979868 | 81979791 | 81979791 | Missense_Mutation | G | A | p.V1165I |
| CAL78_BONE | 81979780 | 81979868 | 81979858 | 81979858 | Missense_Mutation | G | A | p.R1187Q |
| SNU81_LARGE_INTESTINE | 81888049 | 81888192 | 81888129 | 81888129 | Nonsense_Mutation | G | T | p.E92* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLCG2 |
| 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 PLCG2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLCG2 |
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RelatedDrugs for PLCG2 |
| 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 PLCG2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLCG2 | C3553961 | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | 1 | ORPHANET;UNIPROT |
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