Gene Report

Basic Info
Approved Symbol PBRM1
Symbol Alias BAF180, PB1
Approved Name polybromo 1
Location 3p21
Position chr3:52545352-52685917, -1
External Links HGNC: 30064
Entrez Gene: 55193
Ensembl: ENSG00000163939
UCSC: uc003dey.2
No. of Studies 5 (Positive: 4; Negative: 0; trend: 1)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 5)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Moskvina, V.,2009 In BD:Smallest P-value per gene=0.00856, Product of P truncation <=0.01=0.00246, Product of P truncation <=0.001=NA. It showed evidence for association with BD. Positive Comment on Study
Green, E. K.,2012 SNP: rs3755806 BD ImmunoChip:P-value = 0.0222,OR = 0.891;ImmunoChip, PGC-BD combined data:P-balue = 0.000000421,OR = 0.889 Suggestive association was found. Trend Comment on Study
Vassos, E.,2012 SNP: rs2251219 There is strong evidence of association of rs2251219 with BP. However, our data do not support association of this marker with schizophrenia. Because the region of association has high linkage disequilibrium, forming a large haplotype block across many genes, it is not clear which gene is causally implicated in the disorder. Positive Comment on Study
Kondo, K.,2013 SNP: rs2251219 Significant association was observed. Positive Comment on Study
McMahon, F. J., 2010 SNP: rs2251219 A synonymous variant rs2251219 in the gene PBRM1 was significant in major mood disorders. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 12)

GO terms by PBA (count: 1)

GO terms by database search (count: 11)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 67)

Literature-origin SNPs (count: 13)

LD-proxies (count: 54)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

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

Overlap with SZ from cross-disorder studies (count: 3)

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 0)

View in gBrowse

Region: chr3:52545352..52685917 View in gBrowse
View in gBrowse