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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 GNB1 |
 Gene summary |
| Gene information | Gene symbol | GNB1 | Gene ID | 2782 |
| Gene name | G protein subunit beta 1 | |
| Synonyms | MRD42 | |
| Cytomap | 1p36.33 | |
| Type of gene | protein-coding | |
| Description | guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1beta subunit, signal-transducing proteins GS/GIguanine nucleotide binding protein (G protein), beta polypeptide 1testicular tissue protein Li 72transducin beta chain 1 | |
| Modification date | 20200321 | |
| UniProtAcc | ||
| 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 GNB1 |
| 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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ENSG00000078369
| 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 | UP | ENST00000615252.4 | GNB1-210:protein_coding:GNB1 | 2.314947e+02 | 3.338980e+00 | 5.322488e-03 | 4.773730e-02 |
| CB | UP | ENST00000437146.1 | GNB1-203:protein_coding:GNB1 | 1.875777e+00 | 1.384538e+00 | 6.362001e-03 | 2.398657e-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 GNB1 |
| 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_105212 | chr1 | 1839190:1839238:1839629:1839682:1890364:1890401 | 1839629:1839682 |
| exon_skip_146199 | chr1 | 1806475:1806538:1815756:1815862:1817837:1817875 | 1815756:1815862 |
| exon_skip_169337 | chr1 | 1804526:1804581:1806475:1806538:1825397:1825499 | 1806475:1806538 |
| exon_skip_190865 | chr1 | 1815756:1815862:1817837:1817875:1825397:1825415 | 1817837:1817875 |
| exon_skip_20675 | chr1 | 1789061:1789269:1790395:1790596:1793245:1793311 | 1790395:1790596 |
| exon_skip_226734 | chr1 | 1790565:1790596:1793245:1793311:1804419:1804581 | 1793245:1793311 |
| exon_skip_235744 | chr1 | 1806475:1806538:1815756:1815862:1825397:1825499 | 1815756:1815862 |
| exon_skip_265541 | chr1 | 1817837:1817875:1825397:1825499:1839190:1839238 | 1825397:1825499 |
| exon_skip_266066 | chr1 | 1806475:1806538:1815756:1815862:1825397:1825415 | 1815756:1815862 |
| exon_skip_266666 | chr1 | 1815756:1815862:1817837:1817875:1825397:1825499 | 1817837:1817875 |
| exon_skip_47729 | chr1 | 1804526:1804581:1806475:1806538:1815756:1815862 | 1806475:1806538 |
| exon_skip_56101 | chr1 | 1825397:1825499:1839190:1839238:1890820:1890836 | 1839190:1839238 |
| exon_skip_82423 | chr1 | 1793245:1793311:1804419:1804581:1806475:1806538 | 1804419:1804581 |
| exon_skip_91270 | chr1 | 1825467:1825499:1839190:1839238:1890820:1890836 | 1839190:1839238 |
| 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_56101 | Mayo_CB | 6.682927e-01 | 7.742857e-01 | -1.059930e-01 | 3.603608e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for GNB1 |
| 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 |
| ENST00000378609 | 1825397 | 1825499 | 3UTR-3CDS |
| ENST00000378609 | 1839190 | 1839238 | 3UTR-3UTR |
| ENST00000378609 | 1793245 | 1793311 | Frame-shift |
| ENST00000610897 | 1793245 | 1793311 | Frame-shift |
| ENST00000378609 | 1806475 | 1806538 | Frame-shift |
| ENST00000610897 | 1806475 | 1806538 | Frame-shift |
| ENST00000378609 | 1815756 | 1815862 | Frame-shift |
| ENST00000610897 | 1815756 | 1815862 | Frame-shift |
| ENST00000378609 | 1817837 | 1817875 | In-frame |
| ENST00000610897 | 1817837 | 1817875 | 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 |
| ENST00000378609 | 1839190 | 1839238 | 3UTR-3UTR |
| ENST00000378609 | 1790395 | 1790596 | Frame-shift |
| ENST00000610897 | 1790395 | 1790596 | Frame-shift |
| ENST00000378609 | 1806475 | 1806538 | Frame-shift |
| ENST00000610897 | 1806475 | 1806538 | Frame-shift |
| ENST00000378609 | 1817837 | 1817875 | In-frame |
| ENST00000610897 | 1817837 | 1817875 | 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 |
| ENST00000378609 | 1825397 | 1825499 | 3UTR-3CDS |
| ENST00000378609 | 1839190 | 1839238 | 3UTR-3UTR |
| ENST00000378609 | 1790395 | 1790596 | Frame-shift |
| ENST00000610897 | 1790395 | 1790596 | Frame-shift |
| ENST00000378609 | 1793245 | 1793311 | Frame-shift |
| ENST00000610897 | 1793245 | 1793311 | Frame-shift |
| ENST00000378609 | 1804419 | 1804581 | Frame-shift |
| ENST00000610897 | 1804419 | 1804581 | Frame-shift |
| ENST00000378609 | 1806475 | 1806538 | Frame-shift |
| ENST00000610897 | 1806475 | 1806538 | Frame-shift |
| ENST00000378609 | 1815756 | 1815862 | Frame-shift |
| ENST00000610897 | 1815756 | 1815862 | Frame-shift |
| ENST00000378609 | 1817837 | 1817875 | In-frame |
| ENST00000610897 | 1817837 | 1817875 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNB1 |
p-ENSG00000078369_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 |
| ENST00000378609 | 3149 | 340 | 1817837 | 1817875 | 390 | 427 | 19 | 31 |
| ENST00000610897 | 3162 | 340 | 1817837 | 1817875 | 402 | 439 | 19 | 31 |
| 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 |
| ENST00000378609 | 3149 | 340 | 1817837 | 1817875 | 390 | 427 | 19 | 31 |
| ENST00000610897 | 3162 | 340 | 1817837 | 1817875 | 402 | 439 | 19 | 31 |
| 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 |
| ENST00000378609 | 3149 | 340 | 1817837 | 1817875 | 390 | 427 | 19 | 31 |
| ENST00000610897 | 3162 | 340 | 1817837 | 1817875 | 402 | 439 | 19 | 31 |
| 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 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
| 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 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
| 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 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 2 | 340 | Chain | ID=PRO_0000127687;Note=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 3 | 24 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 34 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UKL |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
| P62873 | 19 | 31 | 30 | 30 | Natural variant | ID=VAR_078279;Note=In MRD42%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on complex formation with gamma subunit%3B no effect on trimer formation with alpha and gamma subunits%3B no effect on receptor-driven G protei |
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3'-UTR located exon skipping events that lost miRNA binding sites in GNB1 |
| 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 |
| Mayo | ENST00000378609 | 1839190 | 1839238 | hsa-miR-4666a-5p | chr1:1839225-1839232 | 8mer-1a | chr1:1839215-1839232 | 145.00 | -9.76 |
| MSBB | ENST00000378609 | 1839190 | 1839238 | hsa-miR-4666a-5p | chr1:1839225-1839232 | 8mer-1a | chr1:1839215-1839232 | 145.00 | -9.76 |
| ROSMAP | ENST00000378609 | 1839190 | 1839238 | hsa-miR-4666a-5p | chr1:1839225-1839232 | 8mer-1a | chr1:1839215-1839232 | 145.00 | -9.76 |
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SNVs in the skipped exons for GNB1 |
| - 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 GNB1 |
| 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 GNB1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GNB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_56101 | -5.203386e-01 | 2.068402e-12 |
| CB | RBM3 | exon_skip_56101 | 4.786277e-01 | 1.756215e-10 |
| CB | FUBP1 | exon_skip_56101 | -5.179792e-01 | 2.703077e-12 |
| CB | NUP42 | exon_skip_56101 | 4.085537e-01 | 8.982638e-08 |
| HCC | RBM3 | exon_skip_56101 | 7.089461e-01 | 5.444709e-43 |
| HCC | HNRNPK | exon_skip_56101 | 4.009584e-01 | 5.755099e-12 |
| HCC | HNRNPDL | exon_skip_56101 | 4.637171e-01 | 5.827751e-16 |
| HCC | ZCRB1 | exon_skip_56101 | 4.109666e-01 | 1.503899e-12 |
| PCC | RBM3 | exon_skip_56101 | 7.257114e-01 | 4.052882e-36 |
| STG | RBM3 | exon_skip_56101 | 4.213158e-01 | 4.355352e-05 |
| TC | RBM3 | exon_skip_91270 | 5.136637e-01 | 3.752281e-12 |
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RelatedDrugs for GNB1 |
| 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 GNB1 |
| 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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