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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 GABRB2 |
 Gene summary |
| Gene information | Gene symbol | GABRB2 | Gene ID | 2561 |
| Gene name | gamma-aminobutyric acid type A receptor subunit beta2 | |
| Synonyms | ICEE2 | |
| Cytomap | 5q34 | |
| Type of gene | protein-coding | |
| Description | gamma-aminobutyric acid receptor subunit beta-2GABA(A) receptor subunit beta-2gamma-aminobutyric acid A receptor beta 2gamma-aminobutyric acid type A receptor beta2 subunit | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 29747637(Genome-wide association study identifies two loci influencing plasma neurofilament light levels) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GABRB2 | GO:1904862 | inhibitory synapse assembly | 23909897|25489750 |
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Gene structures and expression levels for GABRB2 |
| 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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ENSG00000145864
| 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 |
| STG | UP | ENST00000353437.10 | GABRB2-202:protein_coding:GABRB2 | 7.986763e+01 | 9.973546e-01 | 5.162562e-04 | 2.750180e-02 |
| CB | UP | ENST00000520240.5 | GABRB2-206:protein_coding:GABRB2 | 1.027616e+02 | 9.430702e-01 | 1.282333e-04 | 9.147050e-04 |
| CB | UP | ENST00000353437.10 | GABRB2-202:protein_coding:GABRB2 | 4.627803e+01 | 8.795828e-01 | 7.776872e-04 | 4.183519e-03 |
| CB | UP | ENST00000517547.5 | GABRB2-204:protein_coding:GABRB2 | 1.059104e+02 | 8.109308e-01 | 7.977654e-03 | 2.889846e-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 GABRB2 |
| 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_135359 | chr5 | 161410978:161411057:161459624:161459844:161545227:161545294 | 161459624:161459844 |
| exon_skip_169323 | chr5 | 161410975:161411057:161459624:161459844:161545227:161545294 | 161459624:161459844 |
| exon_skip_182761 | chr5 | 161336632:161336769:161410975:161411057:161545227:161545294 | 161410975:161411057 |
| exon_skip_230479 | chr5 | 161545227:161545294:161546322:161546413:161546567:161546643 | 161546322:161546413 |
| exon_skip_254805 | chr5 | 161546322:161546413:161546567:161546795:161548059:161548124 | 161546567:161546795 |
| exon_skip_29152 | chr5 | 161330883:161331127:161334752:161334904:161336632:161336769 | 161334752:161334904 |
| exon_skip_43735 | chr5 | 161336632:161336769:161410975:161411057:161459624:161459844 | 161410975:161411057 |
| exon_skip_54828 | chr5 | 161293898:161294428:161326368:161326481:161330883:161331127 | 161326368:161326481 |
| 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 GABRB2 |
| 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 |
| ENST00000353437 | 161546567 | 161546795 | 3UTR-3CDS |
| ENST00000353437 | 161410975 | 161411057 | Frame-shift |
| ENST00000520240 | 161410975 | 161411057 | Frame-shift |
| ENST00000353437 | 161459624 | 161459844 | Frame-shift |
| ENST00000520240 | 161459624 | 161459844 | Frame-shift |
| ENST00000353437 | 161546322 | 161546413 | Frame-shift |
| ENST00000520240 | 161546322 | 161546413 | Frame-shift |
| ENST00000353437 | 161334752 | 161334904 | In-frame |
| ENST00000520240 | 161334752 | 161334904 | 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 |
| ENST00000353437 | 161459624 | 161459844 | Frame-shift |
| ENST00000520240 | 161459624 | 161459844 | Frame-shift |
| ENST00000353437 | 161546322 | 161546413 | Frame-shift |
| ENST00000520240 | 161546322 | 161546413 | Frame-shift |
| 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 |
| ENST00000353437 | 161410975 | 161411057 | Frame-shift |
| ENST00000520240 | 161410975 | 161411057 | Frame-shift |
| ENST00000353437 | 161459624 | 161459844 | Frame-shift |
| ENST00000520240 | 161459624 | 161459844 | Frame-shift |
| ENST00000353437 | 161546322 | 161546413 | Frame-shift |
| ENST00000520240 | 161546322 | 161546413 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GABRB2 |
p-ENSG00000145864_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GABRB2 |
| 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 GABRB2 |
| - 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 GABRB2 |
| 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 GABRB2 |
| 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 GABRB2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GABRB2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P47870 | approved|investigational | DB00231 | Temazepam | small molecule | P47870 |
| P47870 | approved | DB00395 | Carisoprodol | small molecule | P47870 |
| P47870 | approved|illicit|investigational | DB00690 | Flurazepam | small molecule | P47870 |
| P47870 | approved|illicit|withdrawn | DB00801 | Halazepam | small molecule | P47870 |
| P47870 | approved|investigational|vet_approved | DB00818 | Propofol | small molecule | P47870 |
| P47870 | approved|illicit|investigational|vet_approved | DB00829 | Diazepam | small molecule | P47870 |
| P47870 | approved | DB00842 | Oxazepam | small molecule | P47870 |
| P47870 | approved|investigational | DB00897 | Triazolam | small molecule | P47870 |
| P47870 | approved | DB00898 | Ethanol | small molecule | P47870 |
| P47870 | approved|illicit | DB01215 | Estazolam | small molecule | P47870 |
| P47870 | approved|investigational|nutraceutical | DB01381 | Ginkgo biloba | biotech | P47870 |
| P47870 | approved|illicit|investigational | DB01558 | Bromazepam | small molecule | P47870 |
| P47870 | approved|illicit | DB01559 | Clotiazepam | small molecule | P47870 |
| P47870 | approved|illicit | DB01588 | Prazepam | small molecule | P47870 |
| P47870 | approved | DB01595 | Nitrazepam | small molecule | P47870 |
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RelatedDiseases for GABRB2 |
| 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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