ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	DHCR7
Previous Symbol	SLOS
Approved Name	7-dehydrocholesterol reductase
Previous Name	Smith-Lemli-Opitz syndrome
Location	11q13.4
Position	chr11:71139239-71163914, -
External Links	HGNC: 2860 Entrez Gene: 1717 Ensembl: ENSG00000172893 UCSC: uc001oql.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	6 SNPs of top 50 hits located within the gene	Trend

Gene related SNPs (count: 24)

Literature-origin SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11603330	Chr11:71153459(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)
rs3750997	Chr11:71158841(Fwd)	5_prime_UTR_variant; intron_variant; upstream_gene_variant	1(0/0/1)
rs736894	Chr11:71152258(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)
rs7928249	Chr11:71161063(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)
rs12422045	Chr11:71154820(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/0/1)
rs1630498	Chr11:71150785(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)
rs1790324	Chr11:71150520(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 17)

rs_ID	Location	Functional Annotation
rs12791871	Chr11:71164544(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs7944926	Chr11:71165625(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs11606033	Chr11:71154204(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs1044482	Chr11:71155171(Fwd)	intron_variant; missense_variant; splice_region_variant; synonymous_variant; upstream_gene_variant
rs1790345	Chr11:71145941(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs2852853	Chr11:71150217(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12419334	Chr11:71139472(Fwd)	3_prime_UTR_variant
rs12797951	Chr11:71143266(Fwd)	downstream_gene_variant; intron_variant
rs1792277	Chr11:71138918(Fwd)	downstream_gene_variant; upstream_gene_variant
rs12419279	Chr11:71139061(Fwd)	downstream_gene_variant; upstream_gene_variant
rs1792284	Chr11:71134966(Fwd)	downstream_gene_variant; upstream_gene_variant
rs1792282	Chr11:71135166(Fwd)	downstream_gene_variant; upstream_gene_variant
rs2002064	Chr11:71163420(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs4944957	Chr11:71168035(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12785878	Chr11:71167449(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4944959	Chr11:71168234(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4944958	Chr11:71168073(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 14)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001568	blood vessel development	Biological Process		5
GO:0005783	endoplasmic reticulum	Cellular Component	IDA[9878250]	100
GO:0005640	nuclear outer membrane	Cellular Component	IDA[9878250]	5
GO:0006695	cholesterol biosynthetic process	Biological Process	IMP[9465114]	7
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0016021	integral to membrane	Cellular Component		845
GO:0009791	post-embryonic development	Biological Process		16
GO:0030154	cell differentiation	Biological Process		51
GO:0030324	lung development	Biological Process		12
GO:0035264	multicellular organism growth	Biological Process		10
GO:0042127	regulation of cell proliferation	Biological Process		20
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045540	regulation of cholesterol biosynthetic process	Biological Process		1
GO:0047598	7-dehydrocholesterol reductase activity	Molecular Function	IDA[9465114]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00100	Steroid biosynthesis	4

Genes shared at least 5 GO terms with DHCR7 (count: 0)

Genes shared at least 2 KEGG pathways with DHCR7 (count: 3)

Gene Symbol	Pathway Count	Pathway List
SC5DL	2	Metabolic pathways; Steroid biosynthesis;
SQLE	2	Metabolic pathways; Steroid biosynthesis;
TM7SF2	2	Metabolic pathways; Steroid biosynthesis;

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Region: chr11:71139239..71163914 View in gBrowse