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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 GNB5 |
 Gene summary |
| Gene information | Gene symbol | GNB5 | Gene ID | 10681 |
| Gene name | G protein subunit beta 5 | |
| Synonyms | GB5|IDDCA|LADCI | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | guanine nucleotide-binding protein subunit beta-5G protein, beta subunit 5Lgbeta5guanine nucleotide binding protein (G protein), beta 5guanine nucleotide-binding protein, beta subunit 5Ltransducin beta chain 5 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30889441(Profiling of Alzheimer's disease related genes in mild to moderate vitamin D hypovitaminosis) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GNB5 | GO:0007212 | dopamine receptor signaling pathway | 27677260 |
| GNB5 | GO:0043547 | positive regulation of GTPase activity | 10521509 |
| GNB5 | GO:1901386 | negative regulation of voltage-gated calcium channel activity | 11007869|12606627 |
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Gene structures and expression levels for GNB5 |
| 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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ENSG00000069966
| 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 | ENST00000560075.1 | GNB5-209:retained_intron:GNB5 | 2.904336e+00 | -8.099077e-01 | 7.950396e-06 | 4.240145e-04 |
| 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 GNB5 |
| 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_145459 | chr15 | 52133378:52133469:52135613:52135756:52141140:52141211 | 52135613:52135756 |
| exon_skip_175893 | chr15 | 52124473:52124639:52125948:52126044:52128196:52128244 | 52125948:52126044 |
| exon_skip_234716 | chr15 | 52141206:52141272:52147459:52147535:52149884:52149925 | 52147459:52147535 |
| exon_skip_249214 | chr15 | 52147459:52147535:52149884:52149925:52153940:52154076 | 52149884:52149925 |
| exon_skip_269110 | chr15 | 52125948:52126044:52128196:52128244:52133378:52133469 | 52128196:52128244 |
| exon_skip_28302 | chr15 | 52128196:52128244:52128644:52128695:52133378:52133469 | 52128644:52128695 |
| exon_skip_33279 | chr15 | 52135613:52135756:52141140:52141272:52149884:52149925 | 52141140:52141272 |
| exon_skip_627 | chr15 | 52135689:52135756:52141140:52141272:52147459:52147535 | 52141140:52141272 |
| 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 GNB5 |
| 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 |
| ENST00000261837 | 52128196 | 52128244 | Frame-shift |
| ENST00000261837 | 52147459 | 52147535 | Frame-shift |
| ENST00000261837 | 52149884 | 52149925 | 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 |
| 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 |
| ENST00000261837 | 52125948 | 52126044 | Frame-shift |
| ENST00000261837 | 52128196 | 52128244 | Frame-shift |
| ENST00000261837 | 52141140 | 52141272 | Frame-shift |
| ENST00000261837 | 52147459 | 52147535 | Frame-shift |
| ENST00000261837 | 52135613 | 52135756 | In-frame |
| ENST00000261837 | 52149884 | 52149925 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GNB5 |
p-ENSG00000069966_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 |
| ENST00000261837 | 8923 | 395 | 52149884 | 52149925 | 442 | 482 | 125 | 138 |
| 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 |
| 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 |
| ENST00000261837 | 8923 | 395 | 52149884 | 52149925 | 442 | 482 | 125 | 138 |
| ENST00000261837 | 8923 | 395 | 52135613 | 52135756 | 694 | 836 | 209 | 256 |
| 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 |
| O14775 | 125 | 138 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 125 | 138 | 103 | 142 | Repeat | Note=WD 1 |
| 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 |
| 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 |
| O14775 | 125 | 138 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 125 | 138 | 103 | 142 | Repeat | Note=WD 1 |
| O14775 | 209 | 256 | 140 | 209 | Alternative sequence | ID=VSP_039101;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| O14775 | 209 | 256 | 1 | 395 | Chain | ID=PRO_0000127705;Note=Guanine nucleotide-binding protein subunit beta-5 |
| O14775 | 209 | 256 | 213 | 213 | Natural variant | ID=VAR_049270;Note=A->V;Dbxref=dbSNP:rs34637551 |
| O14775 | 209 | 256 | 193 | 234 | Repeat | Note=WD 3 |
| O14775 | 209 | 256 | 236 | 278 | Repeat | Note=WD 4 |
| O14775 | 209 | 256 | 223 | 223 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GNB5 |
| 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 GNB5 |
| - 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 GNB5 |
| 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 GNB5 |
| 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 GNB5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GNB5 |
| 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 GNB5 |
| 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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