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- Data Summary
Gene Report
Approved Symbol | ADRA1A |
---|---|
Previous Symbol | ADRA1C |
Symbol Alias | ADRA1L1 |
Approved Name | adrenergic, alpha-1A-, receptor |
Location | 8p21.2 |
Position | chr8:26605667-26724790, - |
External Links |
HGNC: 277 Entrez Gene: 148 Ensembl: ENSG00000120907 UCSC: uc003xfh.1 |
No. of Studies | 3 (significant: 2; non-significant: 1; trend: 0) |
Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Barr CL, 2001(c) | no evidence was found for biased transmission of either allele of the ADRA1C polymorphism to the probands in this sample of ADHD families | Non-significant |
Brookes K, 2006 | UNPHASED TDT P-value=0.0169, global P-value=0.443, WHAP TDT P_sum P-value=0.162; OR=1.24, one or more SNPs with nominal P-value<0.05 located in this gene | Significant |
Hawi, Z., 2012 | Although suggestive evidence of association (nominal p <= 0.05) with the genes SLC6A2, ADRA1A, ADRA1B and ADRA2B was observed, none remained significant after permutation adjustments. These findings provide evidence of a contribution of the noradrenaline system to the genetic aetiology of ADHD. | Significant |
Literature-origin SNPs (count: 22)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs528257 | Chr8:26721296(Fwd) | NMD_transcript_variant; intron_variant | 1(0/1/0) |
rs523816 | Chr8:26703750(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant | 1(0/1/0) |
rs10110744 | Chr8:26685961(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant | 1(1/0/0) |
rs1157690 | Chr8:26610152(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant | 1(0/1/0) |
rs1048101 | Chr8:26628028(Fwd) | NMD_transcript_variant; intron_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant | 1(0/1/0) |
rs11779546 | Chr8:26674936(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant | 1(1/0/0) |
rs11777551 | Chr8:26672727(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant | 1(1/0/0) |
rs2322333 | Chr8:26695255(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs10503800 | Chr8:26695617(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(1/0/0) |
rs472865 | Chr8:26698471(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs4732641 | Chr8:26617904(Fwd) | NMD_transcript_variant; intron_variant | 1(0/1/0) |
rs472151 | Chr8:26692367(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant | 1(0/1/0) |
rs60593443 | Chr8:26636906(Fwd) | NMD_transcript_variant; intron_variant; missense_variant; nc_transcript_variant | 1(0/1/0) |
rs2046186 | Chr8:26711214(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant | 1(0/1/0) |
rs3808585 | Chr8:26724326(Fwd) | intron_variant; upstream_gene_variant | 1(0/1/0) |
rs17055923 | Chr8:26611846(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant | 1(0/1/0) |
rs2229126 | Chr8:26627672(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; upstream_gene_variant | 1(1/0/0) |
rs577366 | Chr8:26697365(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs13274396 | Chr8:26716205(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant | 1(0/1/0) |
rs580739 | Chr8:26713707(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant | 1(0/1/0) |
rs573514 | Chr8:26721281(Fwd) | NMD_transcript_variant; intron_variant | 1(1/0/0) |
rs574647 | Chr8:26697057(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
LD-proxies (count: 72)
rs_ID | Location | Functional Annotation |
---|---|---|
rs498989 | Chr8:26691349(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs488323 | Chr8:26693973(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs527340 | Chr8:26690556(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs526302 | Chr8:26690695(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs498194 | Chr8:26703221(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs539144 | Chr8:26706905(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs499042 | Chr8:26698515(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2036107 | Chr8:26701444(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs556793 | Chr8:26699067(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs3102087 | Chr8:26699937(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs520180 | Chr8:26709922(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs522315 | Chr8:26710975(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs495495 | Chr8:26698168(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4732639 | Chr8:26605110(Fwd) | downstream_gene_variant |
rs538378 | Chr8:26716715(Fwd) | NMD_transcript_variant; intron_variant; synonymous_variant; upstream_gene_variant |
rs489790 | Chr8:26716622(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs563097 | Chr8:26717123(Fwd) | NMD_transcript_variant; intron_variant; upstream_gene_variant |
rs558455 | Chr8:26705581(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs523851 | Chr8:26703768(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs512131 | Chr8:26710792(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs544215 | Chr8:26712028(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs536220 | Chr8:26728437(Fwd) | upstream_gene_variant |
rs2644627 | Chr8:26726641(Fwd) | upstream_gene_variant |
rs522996 | Chr8:26715231(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs1383914 | Chr8:26723049(Fwd) | 5_prime_UTR_variant; upstream_gene_variant |
rs4732652 | Chr8:26648746(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs538898 | Chr8:26706818(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs10102186 | Chr8:26624651(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs511662 | Chr8:26706206(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs17055948 | Chr8:26616143(Fwd) | NMD_transcript_variant; intron_variant |
rs557754 | Chr8:26705562(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs13282250 | Chr8:26694392(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs7835853 | Chr8:26662246(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs17055939 | Chr8:26615112(Fwd) | NMD_transcript_variant; intron_variant |
rs2036109 | Chr8:26616784(Fwd) | NMD_transcript_variant; intron_variant |
rs544104 | Chr8:26711990(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs486354 | Chr8:26710290(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs3802241 | Chr8:26623384(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs4236678 | Chr8:26618366(Fwd) | NMD_transcript_variant; intron_variant |
rs12544507 | Chr8:26676427(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs6998591 | Chr8:26650822(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs11781115 | Chr8:26681450(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs2055197 | Chr8:26669717(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs13282836 | Chr8:26678206(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs3739215 | Chr8:26613408(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs12545761 | Chr8:26677891(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs2055195 | Chr8:26641025(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs13257637 | Chr8:26673902(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs1470221 | Chr8:26601618(Fwd) | downstream_gene_variant |
rs937351 | Chr8:26630737(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6557946 | Chr8:26634589(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
rs13277287 | Chr8:26628765(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs1442341 | Chr8:26610427(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs7842829 | Chr8:26629336(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs10503801 | Chr8:26720449(Fwd) | NMD_transcript_variant; intron_variant |
rs11135957 | Chr8:26652010(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs4732874 | Chr8:26645612(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs7015564 | Chr8:26684458(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs4548188 | Chr8:26646298(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs1390511 | Chr8:26644900(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs1874425 | Chr8:26645486(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs4732958 | Chr8:26719065(Fwd) | NMD_transcript_variant; intron_variant |
rs1908654 | Chr8:26643243(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs1079078 | Chr8:26698047(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs4732682 | Chr8:26720893(Fwd) | NMD_transcript_variant; intron_variant |
rs13262575 | Chr8:26644367(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs11782159 | Chr8:26712981(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs13278849 | Chr8:26714874(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs12547624 | Chr8:26683805(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs4732970 | Chr8:26725568(Fwd) | upstream_gene_variant |
rs13256192 | Chr8:26685346(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant |
rs17334323 | Chr8:26688826(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant |
Variant Name | Variant Type | Location in Gene | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
ADRA1A_Cys492Arg | point mutation | 1 (0/1/0) |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 42)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa04080 | Neuroactive ligand-receptor interaction | 93 | |
hsa04270 | Vascular smooth muscle contraction | 33 | The vascular smooth muscle cell (VSMC) is a highly specializ...... The vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regulate the blood flow and pressure. More... |
hsa04020 | Calcium signaling pathway | 63 | Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More... |
hsa04970 | Salivary secretion | 22 | Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. More... |
Region: chr8:26605667..26724790 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014