Gene Information
|
Gene Name
|
GABRB3 |
|
Gene ID
|
2562
|
|
Gene Full Name
|
gamma-aminobutyric acid type A receptor subunit beta3 |
|
Gene Alias
|
DEE43|ECA5|EIEE43 |
|
Transcripts
|
ENSG00000166206
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
|
|
Membrane Info
|
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
P28472
|
|
HGNC ID
|
HGNC:4083
|
|
OMIM ID
|
137192 |
|
Summary
|
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] |
Target gene [GABRB3] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6010944 |
chr15 |
15 |
13 |
0 |
28 |
View |
| 6018834 |
chr15 |
5 |
1 |
2 |
8 |
View |
| 6020525 |
chr15 |
7 |
0 |
0 |
7 |
View |
| 6021151 |
chr15 |
6 |
0 |
0 |
6 |
View |
| 6022751 |
chr15 |
5 |
0 |
0 |
5 |
View |
| 6028881 |
chr15 |
1 |
0 |
0 |
1 |
View |
| 6030799 |
chr15 |
0 |
0 |
0 |
0 |
View |
Target gene [GABRB3] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - GABRB3 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
