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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 GABRA4 |
 Gene summary |
| Gene information | Gene symbol | GABRA4 | Gene ID | 2557 |
| Gene name | gamma-aminobutyric acid type A receptor subunit alpha4 | |
| Synonyms | - | |
| Cytomap | 4p12 | |
| Type of gene | protein-coding | |
| Description | gamma-aminobutyric acid receptor subunit alpha-4GABA(A) receptor, alpha 4gamma-aminobutyric acid (GABA) A receptor, alpha 4gamma-aminobutyric acid A receptor alpha 4gamma-aminobutyric acid type A receptor alpha4 subunit | |
| Modification date | 20200313 | |
| 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 GABRA4 |
| 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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ENSG00000109158
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 GABRA4 |
| 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_106095 | chr4 | 46964970:46965229:46971083:46971235:46974232:46974375 | 46971083:46971235 |
| 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 GABRA4 |
| 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 |
| ENST00000264318 | 46971083 | 46971235 | 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 |
| ENST00000264318 | 46971083 | 46971235 | 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 |
| ENST00000264318 | 46971083 | 46971235 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GABRA4 |
p-ENSG00000109158_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 |
| ENST00000264318 | 11990 | 554 | 46971083 | 46971235 | 1705 | 1856 | 240 | 291 |
| 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 |
| ENST00000264318 | 11990 | 554 | 46971083 | 46971235 | 1705 | 1856 | 240 | 291 |
| 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 |
| ENST00000264318 | 11990 | 554 | 46971083 | 46971235 | 1705 | 1856 | 240 | 291 |
| 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 |
| P48169 | 240 | 291 | 36 | 554 | Chain | ID=PRO_0000000441;Note=Gamma-aminobutyric acid receptor subunit alpha-4 |
| P48169 | 240 | 291 | 36 | 258 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 259 | 280 | Transmembrane | Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 285 | 306 | Transmembrane | Note=Helical;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 |
| P48169 | 240 | 291 | 36 | 554 | Chain | ID=PRO_0000000441;Note=Gamma-aminobutyric acid receptor subunit alpha-4 |
| P48169 | 240 | 291 | 36 | 258 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 259 | 280 | Transmembrane | Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 285 | 306 | Transmembrane | Note=Helical;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 |
| P48169 | 240 | 291 | 36 | 554 | Chain | ID=PRO_0000000441;Note=Gamma-aminobutyric acid receptor subunit alpha-4 |
| P48169 | 240 | 291 | 36 | 258 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 259 | 280 | Transmembrane | Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P48169 | 240 | 291 | 285 | 306 | Transmembrane | Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GABRA4 |
| 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 GABRA4 |
| - 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 GABRA4 |
| 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 GABRA4 |
| 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 GABRA4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GABRA4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P48169 | approved|investigational | DB00231 | Temazepam | small molecule | P48169 |
| P48169 | approved|illicit | DB00241 | Butalbital | small molecule | P48169 |
| P48169 | approved|illicit | DB00306 | Talbutal | small molecule | P48169 |
| P48169 | approved|investigational|vet_approved | DB00312 | Pentobarbital | small molecule | P48169 |
| P48169 | approved|illicit | DB00371 | Meprobamate | small molecule | P48169 |
| P48169 | approved|vet_approved | DB00418 | Secobarbital | small molecule | P48169 |
| P48169 | approved|vet_approved | DB00599 | Thiopental | small molecule | P48169 |
| P48169 | approved|illicit | DB00683 | Midazolam | small molecule | P48169 |
| P48169 | approved|illicit|investigational | DB00690 | Flurazepam | small molecule | P48169 |
| P48169 | approved|vet_approved | DB00794 | Primidone | small molecule | P48169 |
| P48169 | approved | DB00842 | Oxazepam | small molecule | P48169 |
| P48169 | approved | DB00849 | Methylphenobarbital | small molecule | P48169 |
| P48169 | approved|investigational | DB00897 | Triazolam | small molecule | P48169 |
| P48169 | approved | DB00898 | Ethanol | small molecule | P48169 |
| P48169 | approved|illicit | DB01351 | Amobarbital | small molecule | P48169 |
| P48169 | approved|illicit | DB01353 | Butobarbital | small molecule | P48169 |
| P48169 | approved|illicit | DB01544 | Flunitrazepam | small molecule | P48169 |
| P48169 | approved|illicit|investigational | DB01558 | Bromazepam | small molecule | P48169 |
| P48169 | approved | DB01595 | Nitrazepam | small molecule | P48169 |
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RelatedDiseases for GABRA4 |
| 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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