ADHDgene Database

Gene Report

Basic Info

Approved Symbol	ASPHD1
Approved Name	aspartate beta-hydroxylase domain containing 1
Location	16p11.2
Position	chr16:29911700-29930953, +
External Links	HGNC: 27380 Entrez Gene: 253982 Ensembl: ENSG00000174939 UCSC: uc002dut.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 4)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_16	chr16:29563594-30367556 (NCBI Build 36.1 (hg18))	803963	16p11.2	Loss
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain
CNV_Jarick[2012]_35	chr16:29554843-30085308 (NCBI36 / hg18)	530466	16p11.2	del

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 3)

ID	Name	Type	No. of Genes in ADHDgene
GO:0018193	peptidyl-amino acid modification	Biological Process	1
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	Molecular Function	11
GO:0030176	integral to endoplasmic reticulum membrane	Cellular Component	14

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ASPHD1 (count: 0)

Genes shared at least 2 KEGG pathways with ASPHD1 (count: 0)

View in gBrowse

Region: chr16:29911700..29930953 View in gBrowse