Gene Report

Basic Info
Approved Symbol GABRB1
Approved Name gamma-aminobutyric acid (GABA) A receptor, beta 1
Name Alias GABA(A) receptor, beta 1
Location 4p12
Position chr4:46993723-47426444, 1
External Links HGNC: 4081
Entrez Gene: 2560
Ensembl: ENSG00000163288
UCSC: uc003gxh.3
No. of Studies 3 (Positive: 2; Negative: 0; trend: 1)
Overlap with SZ? NO
Overlap with MDD? YES
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Hamshere, M. L.,2009 SNP: rs4279178, rs7680321 the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) Trend Comment on Study
Craddock, N., 2010 SNP: rs7680321
Other variant: rs6414684
logistic regression for gene-wide P-value = 0.0039. gene-wide levels of statistical significance in RDC SABP samples, but not other subsets of samples. Positive Comment on Study
Puertollano, R., 1997 Other variant: GABRb1_(GATA)n Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 18)

GO terms by PBA (count: 7)

GO terms by database search (count: 11)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Related other genetic factors
Gene related SNPs (count: 18)

Literature-origin SNPs (count: 3)

LD-proxies (count: 15)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 2)

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Region: chr4:46993723..47426444 View in gBrowse
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