ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PEX5L
Symbol Alias	PEX5R, PXR2
Approved Name	peroxisomal biogenesis factor 5-like
Location	3q27.1
Position	chr3:179512746-179754841, -
External Links	HGNC: 30024 Entrez Gene: 51555 Ensembl: ENSG00000114757 UCSC: uc003fki.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Stergiakouli E., 2012	One of the top 20 independent SNPs with P=0.0000268 locates intronic relative to this gene.	Trend

Gene related SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs9842394	Chr3:179613236(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs3774245	Chr3:179598716(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs940523	Chr3:179621954(Fwd)	intron_variant; nc_transcript_variant
rs3196715	Chr3:179619860(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2302741	Chr3:179605294(Fwd)	intron_variant; nc_transcript_variant
rs2339914	Chr3:179592240(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs9836757	Chr3:179642221(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs17748864	Chr3:179649511(Fwd)	intron_variant; nc_transcript_variant
rs2302743	Chr3:179593352(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs16830940	Chr3:179658262(Fwd)	intron_variant; nc_transcript_variant
rs4146789	Chr3:179656495(Fwd)	intron_variant; nc_transcript_variant
rs7630877	Chr3:179661318(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016560	protein import into peroxisome matrix, docking	Biological Process		1
GO:0030425	dendrite	Cellular Component		46
GO:0031267	small GTPase binding	Molecular Function	IPI[18346465]	3
GO:0042391	regulation of membrane potential	Biological Process		9
GO:0005052	peroxisome matrix targeting signal-1 binding	Molecular Function	IDA[11463335]	1
GO:0005778	peroxisomal membrane	Cellular Component		8
GO:0005829	cytosol	Cellular Component	IDA[11463335]	447
GO:0016558	protein import into peroxisome matrix	Biological Process		2
GO:0000268	peroxisome targeting sequence binding	Molecular Function	IDA[18346465]	1
GO:0045185	maintenance of protein location	Biological Process		1
GO:0043949	regulation of cAMP-mediated signaling	Biological Process		1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PEX5L (count: 0)

Genes shared at least 2 KEGG pathways with PEX5L (count: 0)

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Region: chr3:179512746..179754841 View in gBrowse