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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 G3BP2 |
 Gene summary |
| Gene information | Gene symbol | G3BP2 | Gene ID | 9908 |
| Gene name | G3BP stress granule assembly factor 2 | |
| Synonyms | - | |
| Cytomap | 4q21.1 | |
| Type of gene | protein-coding | |
| Description | ras GTPase-activating protein-binding protein 2G3BP-2GAP SH3 domain-binding protein 2GTPase activating protein (SH3 domain) binding protein 2Ras-GTPase activating protein SH3 domain-binding protein 2 | |
| Modification date | 20200327 | |
| UniProtAcc | A0A024RDB2, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for G3BP2 |
| 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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ENSG00000138757
| 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 |
| PG | DOWN | ENST00000513927.1 | G3BP2-218:lncRNA:G3BP2 | 3.971588e+00 | -1.538821e+00 | 1.210348e-04 | 3.160317e-03 |
| CB | UP | ENST00000357854.7 | G3BP2-201:protein_coding:G3BP2 | 9.970699e+02 | 1.043550e+00 | 3.795264e-06 | 4.641030e-05 |
| CB | UP | ENST00000510902.1 | G3BP2-215:nonsense_mediated_decay:G3BP2 | 1.864499e+00 | 1.158055e+00 | 4.489488e-03 | 1.801093e-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 G3BP2 |
| 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_10404 | chr4 | 75694798:75694929:75724056:75724176:75724276:75724375 | 75724056:75724176 |
| exon_skip_118016 | chr4 | 75656991:75657014:75657557:75657730:75658843:75658896 | 75657557:75657730 |
| exon_skip_213687 | chr4 | 75648639:75648741:75653983:75654081:75655066:75655246 | 75653983:75654081 |
| exon_skip_224775 | chr4 | 75661931:75662049:75694798:75694929:75724276:75724525 | 75694798:75694929 |
| exon_skip_226010 | chr4 | 75661931:75662049:75662213:75662525:75673019:75673114 | 75662213:75662525 |
| exon_skip_228656 | chr4 | 75661931:75662049:75724056:75724176:75724276:75724525 | 75724056:75724176 |
| exon_skip_276453 | chr4 | 75661931:75662049:75694798:75694929:75724056:75724176 | 75694798:75694929 |
| exon_skip_56879 | chr4 | 75644389:75645702:75646338:75646456:75647029:75647157 | 75646338:75646456 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_213687 | MSBB_PG | 6.372297e-01 | 7.374138e-01 | -1.001841e-01 | 1.589829e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for G3BP2 |
| 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 |
| ENST00000359707 | 75646338 | 75646456 | Frame-shift |
| ENST00000395719 | 75646338 | 75646456 | Frame-shift |
| ENST00000359707 | 75653983 | 75654081 | In-frame |
| ENST00000395719 | 75653983 | 75654081 | 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 |
| ENST00000359707 | 75646338 | 75646456 | Frame-shift |
| ENST00000395719 | 75646338 | 75646456 | Frame-shift |
| ENST00000359707 | 75653983 | 75654081 | In-frame |
| ENST00000395719 | 75653983 | 75654081 | 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 |
| ENST00000359707 | 75646338 | 75646456 | Frame-shift |
| ENST00000395719 | 75646338 | 75646456 | Frame-shift |
| ENST00000359707 | 75653983 | 75654081 | In-frame |
| ENST00000395719 | 75653983 | 75654081 | In-frame |
| ENST00000359707 | 75657557 | 75657730 | In-frame |
| ENST00000395719 | 75657557 | 75657730 | In-frame |
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Infer the effects of exon skipping event on protein functional features for G3BP2 |
p-ENSG00000138757_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 |
| ENST00000359707 | 4900 | 482 | 75653983 | 75654081 | 1513 | 1610 | 242 | 274 |
| ENST00000395719 | 4234 | 482 | 75653983 | 75654081 | 847 | 944 | 242 | 274 |
| 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 |
| ENST00000359707 | 4900 | 482 | 75653983 | 75654081 | 1513 | 1610 | 242 | 274 |
| ENST00000395719 | 4234 | 482 | 75653983 | 75654081 | 847 | 944 | 242 | 274 |
| 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 |
| ENST00000359707 | 4900 | 482 | 75657557 | 75657730 | 964 | 1136 | 59 | 116 |
| ENST00000395719 | 4234 | 482 | 75657557 | 75657730 | 298 | 470 | 59 | 116 |
| ENST00000359707 | 4900 | 482 | 75653983 | 75654081 | 1513 | 1610 | 242 | 274 |
| ENST00000395719 | 4234 | 482 | 75653983 | 75654081 | 847 | 944 | 242 | 274 |
| 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 |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UN86 | 59 | 116 | 74 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 74 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 90 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 90 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 106 | 116 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 106 | 116 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 59 | 116 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 59 | 116 | 11 | 133 | Domain | Note=NTF2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00137 |
| Q9UN86 | 59 | 116 | 11 | 133 | Domain | Note=NTF2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00137 |
| Q9UN86 | 59 | 116 | 58 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 58 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 86 | 88 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 59 | 116 | 86 | 88 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5DRV |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 243 | 275 | Alternative sequence | ID=VSP_003605;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.3,ECO:0000303|Ref.4;Dbxref=PMID:15489334 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 2 | 482 | Chain | ID=PRO_0000194800;Note=Ras GTPase-activating protein-binding protein 2 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UN86 | 242 | 274 | 267 | 267 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in G3BP2 |
| 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 G3BP2 |
| - 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 G3BP2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_56879 | 3.931740e-01 | 3.846877e-02 | chr4 | - | 75644389 | 75645702 | 75646338 | 75646456 | 75647029 | 75647157 |
| CDR | MSBB | IFG | exon_skip_56879 | 4.500755e-01 | 1.625214e-02 | chr4 | - | 75644389 | 75645702 | 75646338 | 75646456 | 75647029 | 75647157 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for G3BP2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_213687 | rs6857229 | chr4:75566358 | 2.032879e-04 | 1.554134e-02 |
| DLPFC | exon_skip_213687 | rs11931530 | chr4:75567353 | 2.286968e-04 | 1.722371e-02 |
| DLPFC | exon_skip_213687 | rs17214392 | chr4:75556365 | 4.050165e-04 | 2.735753e-02 |
| DLPFC | exon_skip_213687 | rs11932719 | chr4:75567404 | 5.517748e-04 | 3.498919e-02 |
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Correlation with RNA binding proteins (RBPs) for G3BP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_213687 | -4.447923e-01 | 5.980848e-09 |
| CB | PTBP1 | exon_skip_213687 | -4.047665e-01 | 1.597737e-07 |
| FL | MBNL1 | exon_skip_213687 | 4.727801e-01 | 1.778260e-12 |
| FL | PCBP2 | exon_skip_213687 | 4.431728e-01 | 5.564004e-11 |
| FL | PUF60 | exon_skip_213687 | 5.776512e-01 | 4.177717e-19 |
| FL | RALYL | exon_skip_213687 | 6.780759e-01 | 3.784554e-28 |
| HCC | ZNF326 | exon_skip_213687 | -5.687827e-01 | 1.029421e-24 |
| HCC | RBM6 | exon_skip_213687 | -5.937822e-01 | 2.628510e-27 |
| HCC | PCBP1 | exon_skip_213687 | -4.221792e-01 | 3.501037e-13 |
| HCC | PTBP1 | exon_skip_213687 | -6.621219e-01 | 1.083886e-35 |
| IFG | PABPN1L | exon_skip_213687 | -5.424235e-01 | 2.863620e-03 |
| IFG | RBM6 | exon_skip_213687 | -4.149760e-01 | 2.810438e-02 |
| IFG | PTBP1 | exon_skip_213687 | -6.565390e-01 | 1.480609e-04 |
| PCC | ZNF326 | exon_skip_213687 | -4.286149e-01 | 6.969546e-11 |
| PCC | RBM6 | exon_skip_213687 | -4.301634e-01 | 5.852784e-11 |
| PCC | RALYL | exon_skip_213687 | 4.046024e-01 | 9.359085e-10 |
| PCC | PTBP1 | exon_skip_213687 | -6.443830e-01 | 2.896072e-26 |
| PG | PCBP1 | exon_skip_213687 | 4.352920e-01 | 6.211048e-11 |
| PG | PUF60 | exon_skip_213687 | 4.947476e-01 | 4.071052e-14 |
| PG | RALYL | exon_skip_213687 | 6.222854e-01 | 1.790667e-23 |
| STG | RALYL | exon_skip_213687 | 7.104428e-01 | 4.419883e-15 |
| STG | PTBP1 | exon_skip_213687 | -4.062090e-01 | 7.113088e-05 |
| TC | RBM6 | exon_skip_213687 | -4.745215e-01 | 2.312358e-10 |
| TC | MBNL1 | exon_skip_213687 | 4.110378e-01 | 6.699403e-08 |
| TC | RALYL | exon_skip_213687 | 8.477568e-01 | 2.280513e-45 |
| TC | PTBP1 | exon_skip_213687 | -5.105231e-01 | 5.326300e-12 |
| TC | PTBP3 | exon_skip_213687 | 4.940816e-01 | 3.147881e-11 |
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RelatedDrugs for G3BP2 |
| 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 G3BP2 |
| 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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