Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	BRD1
Symbol Alias	BRL, BRPF2
Approved Name	bromodomain containing 1
Previous Name	bromodomain-containing 1
Name Alias	BR140-like
Location	22q13.33
Position	chr22:49773283-49827512, -1
External Links	HGNC: 1102 Entrez Gene: 23774 Ensembl: ENSG00000100425 UCSC: uc003biv.3
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Severinsen, J. E., 2006 (b)	SNP: rs138855, rs138880, rs138881, rs2239848, rs4468 Haplotype: D22S922 - D22S1169 - rs4468(2-3-C), rs138855 - rs138880(G-C), rs138855 - rs138880 - rs138881(G-C-A), rs138855 - rs138880 - rs138881(G-C-G), rs138855 - rs2239848 - rs138880(G-G-C), rs138855 - rs2239848 - rs138880 - rs138881(G-G-C-A), rs138855 - rs4468(), rs138855 - rs4468 - D22S1169(), rs138855 - rs4468 - D22S1169 - D22S922(), rs138880 - rs2239848(), rs138880 - rs2239848 - rs138855(), rs138880 - rs2239848 - rs138855 - rs4468(), rs138881 - rs138880(), rs138881 - rs138880 - rs2239848(), rs138881 - rs138880 - rs2239848 - rs138855(), rs2239848 - rs138855(), rs2239848 - rs138855 - rs4468(), rs2239848 - rs138855 - rs4468 - D22S1169(), rs4468 - D22S1169(), rs4468 - D22S1169 - D22S922(), rs4468 - D22S1169 - D22S922 - rs132234(), rs137931 - rs6010260 - rs138881(), rs137931 - rs6010260 - rs138881 - rs138880(), rs137932 - rs137931 - rs6010260 - rs138881(), rs6010260 - rs138881(), rs6010260 - rs138881 - rs138880(), rs6010260 - rs138881 - rs138880 - rs2239848()	The results implicate BRD1 with SZ and BPD susceptibility and provide evidence that suggests a role for BRD1 in neurodevelopment.	Positive	Comment on Study
Nyegaard, M., 2010	SNP: rs138820, rs138830, rs138841, rs138851, rs138855, rs138863, rs138864, rs138880, rs138887, rs139811, rs2239848, rs3788731, rs4468, rs5769750 Haplotype: rs138820 - rs4468(CC), rs138820 - rs4468(TT), rs138820 - rs4468 - rs138841(CCA), rs138820 - rs4468 - rs138841(TTC), rs138841 - rs138855(CG), rs138841 - rs138855 - rs138864(CGG), rs138864 - rs2239848(GG), rs4468 rs138841(CA), rs4468 rs138841(TC), rs4468 - rs138841 - rs138855(TCG)	The associations reported add further support for the implication of BRD1 with SZ and BPD susceptibility.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 6)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[10602503]; TAS[10602503]	283

GO terms by database search (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0070776	MOZ/MORF histone acetyltransferase complex	cellular component	IDA[16387653]	2
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0043966	histone H3 acetylation	biological process	IDA[16387653]	4
GO:0042393	histone binding	molecular function	IDA[21880731]	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BRD1	VIM	NO	yeast 2-hybrid	16169070
BRD1	KIAA1377	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 34)

Literature-origin SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3788731	chr22:49851129 - 49851129(1)	downstream_gene_variant; upstream_gene_variant	1(1/0/0)
rs138820	chr22:49770430 - 49770430(1)	downstream_gene_variant	1(0/1/0)
rs2239848	chr22:49823106 - 49823106(1)	NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	2(0/2/0)
rs138851	chr22:49799988 - 49799988(1)	intron_variant; NMD_transcript_variant	1(1/0/0)
rs138830	chr22:49781441 - 49781441(1)	intron_variant; NMD_transcript_variant	1(1/0/0)
rs138841	chr22:49788312 - 49788312(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs138864	chr22:49811064 - 49811064(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	1(0/1/0)
rs138881	chr22:49826834 - 49826834(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs4468	chr22:49774004 - 49774004(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant	2(1/1/0)
rs138887	chr22:49831785 - 49831785(1)	downstream_gene_variant; upstream_gene_variant	1(1/0/0)
rs139811	chr22:49740556 - 49740556(1)	downstream_gene_variant	1(1/0/0)
rs138855	chr22:49804834 - 49804834(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant	2(0/2/0)
rs5769750	chr22:49843947 - 49843947(1)	upstream_gene_variant	1(1/0/0)
rs138863	chr22:49810625 - 49810625(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	1(1/0/0)
rs138880	chr22:49824963 - 49824963(1)	intron_variant; upstream_gene_variant	3(1/2/0)

LD-proxies (count: 19)

rs_ID	Location	Functional Annotation
rs138843	chr22:49789514 - 49789514(1)	intron_variant; NMD_transcript_variant
rs138850	chr22:49799689 - 49799689(1)	intron_variant; NMD_transcript_variant
rs138866	chr22:49812255 - 49812255(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs138867	chr22:49814055 - 49814055(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs138823	chr22:49775509 - 49775509(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs138832	chr22:49784434 - 49784434(1)	intron_variant; NMD_transcript_variant
rs916418	chr22:49775557 - 49775557(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs138816	chr22:49768982 - 49768982(1)	downstream_gene_variant
rs138827	chr22:49778633 - 49778633(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs138840	chr22:49788267 - 49788267(1)	intron_variant; NMD_transcript_variant
rs138853	chr22:49801727 - 49801727(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs138871	chr22:49816226 - 49816226(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs138872	chr22:49817647 - 49817647(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs138834	chr22:49786849 - 49786849(1)	intron_variant; NMD_transcript_variant
rs138845	chr22:49791544 - 49791544(1)	intron_variant; NMD_transcript_variant
rs138886	chr22:49831502 - 49831502(1)	downstream_gene_variant; upstream_gene_variant
rs138884	chr22:49829766 - 49829766(1)	downstream_gene_variant; upstream_gene_variant
rs138861	chr22:49808628 - 49808628(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs138870	chr22:49816089 - 49816089(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)
22q13	chr22:37200000-50818468	1 (1/0/0)

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

Gene relationship with SZ

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

Reference	Description	Result Category
16924267	The results implicate BRD1 with SZ and BPD susceptibility and provide evidence that suggests a role for BRD1 in neurodevelopment.	Positive
19693800	The associations reported add further support for the implication of BRD1 with SZ and BPD susceptibility.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 3)

Reference	ID in SZGene	Result Category
16924267	413	Positive
19908236	413	Trend
19693800	413	Positive

Gene relationship with MDD

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Region: chr22:49773283..49827512 View in gBrowse