ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	PEX7
Symbol Alias	PTS2R, RD
Approved Name	peroxisomal biogenesis factor 7
Name Alias	Refsum disease
Location	6q21-q22.2
Position	chr6:137143702-137235072, +
External Links	HGNC: 8860 Entrez Gene: 5191 Ensembl: ENSG00000112357 UCSC: uc003qhd.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 33)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs6919857	Chr6:137140454(Fwd)	upstream_gene_variant	2(0/2/0)

LD-proxies (count: 32)

rs_ID	Location	Functional Annotation
rs1342645	Chr6:137207304(Fwd)	intron_variant
rs6936400	Chr6:137206262(Fwd)	intron_variant
rs9321578	Chr6:137188609(Fwd)	intron_variant
rs1884940	Chr6:137187641(Fwd)	intron_variant
rs1474987	Chr6:137185293(Fwd)	intron_variant
rs9373174	Chr6:137185164(Fwd)	intron_variant
rs717088	Chr6:137179449(Fwd)	intron_variant; upstream_gene_variant
rs7750763	Chr6:137204016(Fwd)	intron_variant
rs7750251	Chr6:137203746(Fwd)	intron_variant
rs9494591	Chr6:137196695(Fwd)	intron_variant
rs2050713	Chr6:137194033(Fwd)	intron_variant
rs1884939	Chr6:137187606(Fwd)	intron_variant
rs9494587	Chr6:137184492(Fwd)	intron_variant
rs3799476	Chr6:137184073(Fwd)	intron_variant
rs927182	Chr6:137162299(Fwd)	intron_variant
rs1998164	Chr6:137140077(Fwd)	upstream_gene_variant
rs3757167	Chr6:137140993(Fwd)	upstream_gene_variant
rs1321469	Chr6:137139518(Fwd)	upstream_gene_variant
rs9402850	Chr6:137164622(Fwd)	intron_variant
rs9399197	Chr6:137164798(Fwd)	intron_variant
rs1321473	Chr6:137158764(Fwd)	intron_variant
rs6939424	Chr6:137160983(Fwd)	intron_variant
rs9494579	Chr6:137153974(Fwd)	downstream_gene_variant; intron_variant
rs6570104	Chr6:137154620(Fwd)	downstream_gene_variant; intron_variant
rs3757169	Chr6:137142946(Fwd)	upstream_gene_variant
rs7764028	Chr6:137150543(Fwd)	intron_variant
rs9321580	Chr6:137204280(Fwd)	intron_variant
rs1342644	Chr6:137206928(Fwd)	intron_variant
rs9321581	Chr6:137209311(Fwd)	intron_variant
rs9321582	Chr6:137218692(Fwd)	downstream_gene_variant; intron_variant
rs7740484	Chr6:137161671(Fwd)	intron_variant
rs2012700	Chr6:137179387(Fwd)	intron_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)
6q22-23	chr6:114600000-139000000	1 (1/0/0)

Gene related GO terms (count: 12)

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

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042803	protein homodimerization activity	Molecular Function	IDA[11931631]	113
GO:0019899	enzyme binding	Molecular Function	IPI[11931631]	47
GO:0007031	peroxisome organization	Biological Process	IMP[10022913]	2
GO:0006635	fatty acid beta-oxidation	Biological Process		3
GO:0016558	protein import into peroxisome matrix	Biological Process	IDA[9090381]; IMP[12522768]	2
GO:0008611	ether lipid biosynthetic process	Biological Process	IMP[12522768]	1
GO:0005777	peroxisome	Cellular Component	IDA[9090382]	15
GO:0005053	peroxisome matrix targeting signal-2 binding	Molecular Function	IDA[11931631]	1
GO:0005829	cytosol	Cellular Component	IDA[11931631]	447
GO:0005782	peroxisomal matrix	Cellular Component	IDA[11931631]	5
GO:0001958	endochondral ossification	Biological Process		1
GO:0001764	neuron migration	Biological Process		21

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04146	Peroxisome	9	Peroxisomes are essential organelles that play a key role in...... Peroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ether lipids and free radical detoxification. The biogenesis of peroxisomes starts with the early peroxins PEX3, PEX16 and PEX19 and proceeds via several steps. The import of membrane proteins into peroxisomes needs PEX19 for recognition, targeting and insertion via docking at PEX3. Matrix proteins in the cytosol are recognized by peroxisomal targeting signals (PTS) and transported to the docking complex at the peroxisomal membrane. Peroxisomes' deficiencies lead to severe and often fatal inherited peroxisomal disorders (PD). PDs are usually classified in two groups. The first group is disorders of peroxisome biogenesis which include Zellweger syndrome, and the second group is single peroxisomal enzyme deficiencies. More...

Genes shared at least 5 GO terms with PEX7 (count: 0)

Genes shared at least 2 KEGG pathways with PEX7 (count: 0)

View in gBrowse

Region: chr6:137143702..137235072 View in gBrowse