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	FADS1
Previous Symbol	LLCDL1
Symbol Alias	D5D, FADSD5, TU12, FADS6
Approved Name	fatty acid desaturase 1
Name Alias	delta-5 desaturase
Location	11q12-q13.1
Position	chr11:61567097-61596790, -
External Links	HGNC: 3574 Entrez Gene: 3992 Ensembl: ENSG00000149485 UCSC: uc010rlm.1
No. of Studies	3 (significant: 1; non-significant: 2; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 3)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes KJ, 2006(a)	no evidence from case-control or within family tests of association for a haplotype specific association with the two SNPs in FADS1	Non-significant
Mick E, 2010	Gene-based set test P-value=0.019. Significant gene-based set tests of association with selected candidates, but contains no significant or Trend associated SNPs.	Significant
Brookes K, 2006	UNPHASED TDT P-value=0.108, global P-value=0.309, WHAP TDT P_sum P-value=0.684, no SNP with nominal P-value<0.05 located in this gene	Non-significant

Gene related SNPs (count: 15)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs174548	Chr11:61571348(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs174545	Chr11:61569306(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant	1(0/1/0)

LD-proxies (count: 13)

rs_ID	Location	Functional Annotation
rs174549	Chr11:61571382(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_variant
rs174556	Chr11:61580635(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs174555	Chr11:61579760(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs174570	Chr11:61597212(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs174541	Chr11:61565908(Fwd)	downstream_gene_variant; intron_variant
rs174546	Chr11:61569830(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs4246215	Chr11:61564299(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs1535	Chr11:61597972(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs174574	Chr11:61600342(Fwd)	intron_variant; upstream_gene_variant
rs174566	Chr11:61592362(Fwd)	intron_variant; upstream_gene_variant
rs174568	Chr11:61593816(Fwd)	3_prime_UTR_variant; intron_variant; synonymous_variant; upstream_gene_variant
rs174547	Chr11:61570783(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs174550	Chr11:61571478(Fwd)	5_prime_UTR_variant; intron_variant; nc_transcript_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: 28)

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

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0019369	arachidonic acid metabolic process	Biological Process		6
GO:0020037	heme binding	Molecular Function		23
GO:0016021	integral to membrane	Cellular Component	NAS[10601301]	845
GO:0016491	oxidoreductase activity	Molecular Function	IDA[10601301]	21
GO:0033189	response to vitamin A	Biological Process		3
GO:0033559	unsaturated fatty acid metabolic process	Biological Process		2
GO:0022900	electron transport chain	Biological Process		12
GO:0032868	response to insulin stimulus	Biological Process		11
GO:0043651	linoleic acid metabolic process	Biological Process		3
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0036109	alpha-linolenic acid metabolic process	Biological Process		2
GO:0043231	intracellular membrane-bounded organelle	Cellular Component	NAS[10601301]	62
GO:0046456	icosanoid biosynthetic process	Biological Process	TAS[10601301]	1
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045595	regulation of cell differentiation	Biological Process	NAS[10601301]	6
GO:0000248	C-5 sterol desaturase activity	Molecular Function	TAS[10601301]	2
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	NAS[10601301]	158
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005634	nucleus	Cellular Component		770
GO:0005506	iron ion binding	Molecular Function		20
GO:0008654	phospholipid biosynthetic process	Biological Process	TAS[10601301]	3
GO:0007568	aging	Biological Process		29
GO:0007267	cell-cell signaling	Biological Process	NAS[10601301]	38
GO:0006636	unsaturated fatty acid biosynthetic process	Biological Process	IDA[10601301]	3
GO:0016020	membrane	Cellular Component	NAS[10601301]	139
GO:0014070	response to organic cyclic compound	Biological Process		7
GO:0009744	response to sucrose stimulus	Biological Process		2
GO:0009267	cellular response to starvation	Biological Process	IDA[10601301]	3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01040	Biosynthesis of unsaturated fatty acids	5

Genes shared at least 5 GO terms with FADS1 (count: 11)

Gene Symbol	Pathway Count	Pathway List
FADS2	10	heme binding; unsaturated fatty acid metabolic process; electron transport chain; linoleic acid metabolic process; alpha-linolenic acid metabolic process; small molecule metabolic process; endoplasmic reticulum membrane; iron ion binding; unsaturated fatty acid biosynthetic process; membrane;
FADS3	7	heme binding; integral to membrane; electron transport chain; endoplasmic reticulum membrane; iron ion binding; unsaturated fatty acid biosynthetic process; membrane;
PNPLA8	6	arachidonic acid metabolic process; integral to membrane; linoleic acid metabolic process; small molecule metabolic process; endoplasmic reticulum membrane; membrane;
CYP2E1	5	heme binding; oxidoreductase activity; small molecule metabolic process; endoplasmic reticulum membrane; iron ion binding;
FA2H	5	heme binding; integral to membrane; electron transport chain; endoplasmic reticulum membrane; iron ion binding;
PTGS1	5	heme binding; intracellular membrane-bounded organelle; small molecule metabolic process; endoplasmic reticulum membrane; nucleus;
LPCAT1	5	integral to membrane; cellular lipid metabolic process; small molecule metabolic process; endoplasmic reticulum membrane; phospholipid biosynthetic process;
SC5DL	5	integral to membrane; small molecule metabolic process; C-5 sterol desaturase activity; endoplasmic reticulum membrane; iron ion binding;
SREBF1	5	integral to membrane; endoplasmic reticulum membrane; nucleus; aging; cellular response to starvation;
STS	5	integral to membrane; intracellular membrane-bounded organelle; small molecule metabolic process; endoplasmic reticulum membrane; membrane;
UGT1A9	5	integral to membrane; cellular lipid metabolic process; intracellular membrane-bounded organelle; small molecule metabolic process; endoplasmic reticulum membrane;

Genes shared at least 2 KEGG pathways with FADS1 (count: 0)

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Region: chr11:61567097..61596790 View in gBrowse