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- Data Summary
Gene Report
Approved Symbol | UGT1A8 |
---|---|
Symbol Alias | UGT1H |
Approved Name | UDP glucuronosyltransferase 1 family, polypeptide A8 |
Previous Name | UDP glycosyltransferase 1 family, polypeptide A8 |
Location | 2q37 |
Position | chr2:234526291-234681956, + |
External Links |
HGNC: 12540 Entrez Gene: 54576 Ensembl: ENSG00000242366 |
No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
Source | Mapped by LD-proxy; Mapped by literature SNP |
Literature-origin SNPs (count: 1)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs2602381 | Chr2:234584324(Fwd) | intron_variant | 1(0/0/1) |
LD-proxies (count: 75)
rs_ID | Location | Functional Annotation |
---|---|---|
rs4663964 | Chr2:234650236(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs3796088 | Chr2:234651800(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant |
rs28899189 | Chr2:234634324(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs28898621 | Chr2:234639211(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs17863798 | Chr2:234656735(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17862878 | Chr2:234661948(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs4663968 | Chr2:234655144(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs12466997 | Chr2:234656517(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant |
rs12468543 | Chr2:234629239(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs28899186 | Chr2:234629585(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs12463641 | Chr2:234628715(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs12468356 | Chr2:234628747(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs28899187 | Chr2:234630967(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs28898615 | Chr2:234631007(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs10929293 | Chr2:234630186(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs12479208 | Chr2:234630900(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4233633 | Chr2:234619937(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4663327 | Chr2:234617632(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4663325 | Chr2:234616357(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs1604144 | Chr2:234605835(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs3771342 | Chr2:234672663(Fwd) | NMD_transcript_variant; intron_variant |
rs17864705 | Chr2:234672328(Fwd) | NMD_transcript_variant; intron_variant |
rs2003569 | Chr2:234667937(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs12052787 | Chr2:234666581(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs6751673 | Chr2:234604903(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs1018124 | Chr2:234676118(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs12479045 | Chr2:234673588(Fwd) | NMD_transcript_variant; intron_variant |
rs17868342 | Chr2:234673516(Fwd) | NMD_transcript_variant; intron_variant |
rs28898596 | Chr2:234620640(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2885295 | Chr2:234619866(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2013030 | Chr2:234621040(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3893334 | Chr2:234620917(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs12471030 | Chr2:234607560(Fwd) | NMD_transcript_variant; feature_truncation; intron_variant; nc_transcript_variant |
rs12466747 | Chr2:234606787(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs4663326 | Chr2:234616571(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs7420193 | Chr2:234611523(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs3892170 | Chr2:234622412(Fwd) | NMD_transcript_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant |
rs12475068 | Chr2:234622110(Fwd) | NMD_transcript_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant |
rs4663945 | Chr2:234623117(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17862870 | Chr2:234622742(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2013018 | Chr2:234621157(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2013021 | Chr2:234621086(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3755321 | Chr2:234621825(Fwd) | NMD_transcript_variant; intron_variant; missense_variant; nc_transcript_variant; upstream_gene_variant |
rs4556969 | Chr2:234621404(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17874943 | Chr2:234625239(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs28898605 | Chr2:234625494(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3806595 | Chr2:234625718(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3806594 | Chr2:234625890(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs12477216 | Chr2:234623667(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17868334 | Chr2:234624817(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17863791 | Chr2:234624884(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs17863792 | Chr2:234625126(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3732218 | Chr2:234627304(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs904855 | Chr2:234628576(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs904856 | Chr2:234628647(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs12466779 | Chr2:234628694(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs3806593 | Chr2:234625919(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3806591 | Chr2:234626199(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3732221 | Chr2:234627010(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3732220 | Chr2:234627048(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs12053462 | Chr2:234587639(Fwd) | intron_variant; upstream_gene_variant |
rs12474215 | Chr2:234589560(Fwd) | intron_variant; upstream_gene_variant |
rs17862857 | Chr2:234582084(Fwd) | intron_variant |
rs4663877 | Chr2:234586671(Fwd) | intron_variant; upstream_gene_variant |
rs12988520 | Chr2:234607394(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs4663871 | Chr2:234581587(Fwd) | intron_variant |
rs7592624 | Chr2:234602906(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs12474980 | Chr2:234600116(Fwd) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs12476197 | Chr2:234601224(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs6753317 | Chr2:234594979(Fwd) | intron_variant |
rs4485562 | Chr2:234597566(Fwd) | downstream_gene_variant; intron_variant; upstream_gene_variant |
rs17864686 | Chr2:234591339(Fwd) | intron_variant; synonymous_variant |
rs17868325 | Chr2:234594387(Fwd) | intron_variant |
rs12472689 | Chr2:234589616(Fwd) | intron_variant; upstream_gene_variant |
rs28946877 | Chr2:234590243(Fwd) | intron_variant; upstream_gene_variant |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 24)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa01100 | Metabolic pathways | 237 | |
hsa00860 | Porphyrin and chlorophyll metabolism | 24 | |
hsa00983 | Drug metabolism - other enzymes | 25 | |
hsa00514 | Other types of O-glycan biosynthesis | 22 | O-mannosyl glycans are a type of O-glycans that are found bo...... O-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or threonine residue, which is catalyzed by protein O-mannosyltransferases POMT1 and POMT2. Defects of these genes are linked to human diseases, such as muscular dystrophies caused by reduced O-mannosylation of alpha-dystroglycan in skeletal muscles [DS:H00120]. More... |
hsa00053 | Ascorbate and aldarate metabolism | 20 | |
hsa00040 | Pentose and glucuronate interconversions | 21 | |
hsa00500 | Starch and sucrose metabolism | 26 | |
hsa00982 | Drug metabolism - cytochrome P450 | 29 | |
hsa00140 | Steroid hormone biosynthesis | 24 | Steroid hormones derived from cholesterol are a class of bio...... Steroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 compound, to the first C21 steroid, pregnenolone, which is converted by a bifunctional enzyme complex to the gestagen hormone, progesterone [MD:M00107]. Pregnenolone and progesterone are the starting materials for the three groups of steroids: C21 steroids of glucocorticoids and mineralocorticoids, C19 steroids of androgens, and C18 steroids of estrogens. (i) Progesterone is converted by hydroxylations at carbons 21 and 11 to corticosterone, which is further modified by hydroxylation and oxydoreduction at carbon 18 to yield aldosterone, a mineralcorticoid [MD:M00108]. Cortisol, the main glucocorticoid, is formed from 17alpha-hydroxyprogesterone with 11-deoxycortisol as an intermediate [MD:M00109]. (ii) Male hormone testosterone is formed from pregnenolone by two pathways, delta5 pathway via dehydroepiandrosterone and delta4 pathway via androstenedione [MD:M00110]. The enzyme CYP17A1 is responsible for the 17,20 lyase and 17alpha-hydroxylase activities in respective pathways. (iii) Female hormones estrone and estradiol are formed from testosterone and 4-androstene-3,17-dione by oxidative removal of the C19 methyl group and subsequent aromatization of ring A [MD:M00111]. In addition to these three groups, recent studies show that there is another group, termed neurosteroids, synthesized in the brain rather than the peripheral endocrine gland. More... |
hsa00830 | Retinol metabolism | 20 | |
hsa00980 | Metabolism of xenobiotics by cytochrome P450 | 26 |
Region: chr2:234526291..234681956 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014