Gene Report

Basic Info
Approved Symbol NR1D1
Previous Symbol THRAL
Symbol Alias ear-1, hRev, Rev-ErbAalpha, THRA1
Approved Name nuclear receptor subfamily 1, group D, member 1
Location 17q11.2
Position chr17:40092787-40100725, -1
External Links HGNC: 7962
Entrez Gene: 9572
Ensembl: ENSG00000126368
UCSC: uc002htz.3
No. of Studies 6 (Positive: 2; Negative: 4; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 6)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Kripke, D. F.,2009 SNP: rs2071427, rs2269457, rs2314339 Significant association was observed in the BP group. Positive Comment on Study
Byrne, E. M., 2014 P-value=0.31. Gene-based tests show no significant association between this gene and BD. Negative Comment on Study
Mansour, H. A.,2009 Gene-based tests:X<sup>2</sup>=2.973, P-value = 0.385 in dominant model, X<sup>2</sup>=3.107, P-value = 0.409 in recessive model, X<sup>2</sup>=2.316, P-value = 0.456 in additive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI. Negative Comment on Study
Severino, G.,2009 SNP: rs12941497, rs939347
Haplotype: rs12941497 - rs939347(A-A), rs12941497 - rs939347(A-G), rs12941497 - rs939347(G-G)
In the case-control comparison, single marker analysis showed no association for any of the SNPs tested. Haplotype analysis showed a nominally significant association for two haplotypes of SNPs 1-2.Our results, indicating a nominal association of the REVERBa gene with BP, suggest a possible role of REV-ERBa in the pathogenesis of BP. Positive Comment on Study
Soria, V.,2010 SNP: rs2071427 No significant associations of NR1D1 gene were found in BPD patients. Negative Comment on Study
Kishi, T., 2008 (b) SNP: rs2071427, rs3744805, rs939347 Our findings suggest that NR1D1 does not play a major role in the pathophysiology of mood disorders in the Japanese population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 44)

GO terms by PBA (count: 6)

GO terms by database search (count: 38)

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: 3)

Related other genetic factors
Gene related SNPs (count: 9)

Literature-origin SNPs (count: 6)

LD-proxies (count: 3)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

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

Overlap with SZ from cross-disorder studies (count: 2)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr17:40092787..40100725 View in gBrowse
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