Gene Report

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Basic Info

Approved Symbol	DCAF6
Previous Symbol	IQWD1
Symbol Alias	PC326
Approved Name	DDB1 and CUL4 associated factor 6
Previous Name	IQ motif and WD repeats 1
Location	1q23.3
Position	chr1:167935783-168075843, 1
External Links	HGNC: 30002 Entrez Gene: 55827 Ensembl: ENSG00000143164 UCSC: uc001gex.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Saito T., 2014	SNP: rs1060041	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 8)

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

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005925	focal adhesion	cellular component	IDA	32
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	cellular component	IDA[16949367]	1
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity	molecular function	IDA[15784617]	3
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IGI[15784617]	91
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0016567	protein ubiquitination	biological process	IC[16949367]; IEA	18
GO:0005654	nucleoplasm	cellular component	IDA	163

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DCAF6	SUPT5H	NO	yeast 2-hybrid	16169070
DCAF6	SMAD2	NO	in vivo	15761153
DCAF6	BMPR1B	NO	in vivo	15761153
DCAF6	NR3C1	YES	in vitro;in vivo	15784617
DCAF6	ACVR1	NO	in vivo	15761153
DCAF6	AR	NO	in vitro;in vivo	15784617
DCAF6	TGFBR1	NO	in vivo	15761153

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10489202	chr1:167933841 - 167933841(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs1060041	chr1:168004738 - 168004738(1)	NMD_transcript_variant; synonymous_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs17485889	chr1:168049602 - 168049602(1)	intron_variant; non_coding_transcript_variant
rs17557162	chr1:168016712 - 168016712(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11587594	chr1:168019942 - 168019942(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs12404574	chr1:167991997 - 167991997(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4657727	chr1:167996003 - 167996003(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7535138	chr1:167962224 - 167962224(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_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)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)
1q24.2-q25.1	chr1:167200000-176100000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
24888570	The associated SNP in this gene showed significant association with SZ.	Positive

Gene relationship with MDD

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Region: chr1:167935783..168075843 View in gBrowse