AutismKB 2.0

Evidence Details for ADRA1A


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Basic Information Top
Gene Symbol:ADRA1A ( ADRA1C,ADRA1L1,ALPHA1AAR )
Gene Full Name: adrenergic, alpha-1A-, receptor
Band: 8p21.2
Quick LinksEntrez ID:148; OMIM: 104221; Uniprot ID:ADA1A_HUMAN; ENSEMBL ID: ENSG00000120907; HGNC ID: 277
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADRA1A|148|nucleotide
ATGGTGTTTCTCTCGGGAAATGCTTCCGACAGCTCCAACTGCACCCAACCGCCGGCACCGGTGAACATTTCCAAGGCCATTCTGCTCGGGGTGATCTTGGGGGGC
CTCATTCTTTTCGGGGTGCTGGGTAACATCCTAGTGATCCTCTCCGTAGCCTGTCACCGACACCTGCACTCAGTCACGCACTACTACATCGTCAACCTGGCGGTG
GCCGACCTCCTGCTCACCTCCACGGTGCTGCCCTTCTCCGCCATCTTCGAGGTCCTAGGCTACTGGGCCTTCGGCAGGGTCTTCTGCAACATCTGGGCGGCAGTG
GATGTGCTGTGCTGCACCGCGTCCATCATGGGCCTCTGCATCATCTCCATCGACCGCTACATCGGCGTGAGCTACCCGCTGCGCTACCCAACCATCGTCACCCAG
AGGAGGGGTCTCATGGCTCTGCTCTGCGTCTGGGCACTCTCCCTGGTCATATCCATTGGACCCCTGTTCGGCTGGAGGCAGCCGGCCCCCGAGGACGAGACCATC
TGCCAGATCAACGAGGAGCCGGGCTACGTGCTCTTCTCAGCGCTGGGCTCCTTCTACCTGCCTCTGGCCATCATCCTGGTCATGTACTGCCGCGTCTACGTGGTG
GCCAAGAGGGAGAGCCGGGGCCTCAAGTCTGGCCTCAAGACCGACAAGTCGGACTCGGAGCAAGTGACGCTCCGCATCCATCGGAAAAACGCCCCGGCAGGAGGC
AGCGGGATGGCCAGCGCCAAGACCAAGACGCACTTCTCAGTGAGGCTCCTCAAGTTCTCCCGGGAGAAGAAAGCGGCCAAAACGCTGGGCATCGTGGTCGGCTGC
TTCGTCCTCTGCTGGCTGCCTTTTTTCTTAGTCATGCCCATTGGGTCTTTCTTCCCTGATTTCAAGCCCTCTGAAACAGTTTTTAAAATAGTATTTTGGCTCGGA
TATCTAAACAGCTGCATCAACCCCATCATATACCCATGCTCCAGCCAAGAGTTCAAAAAGGCCTTTCAGAATGTCTTGAGAATCCAGTGTCTCTGCAGAAAGCAG
TCTTCCAAACATGCCCTGGGCTACACCCTGCACCCGCCCAGCCAGGCCGTGGAAGGGCAACACAAGGACATGGTGCGCATCCCCGTGGGATCAAGAGAGACCTTC
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>ADRA1A|148|protein
MVFLSGNASDSSNCTQPPAPVNISKAILLGVILGGLILFGVLGNILVILSVACHRHLHSVTHYYIVNLAVADLLLTSTVLPFSAIFEVLGYWAFGRVFCNIWAAV
DVLCCTASIMGLCIISIDRYIGVSYPLRYPTIVTQRRGLMALLCVWALSLVISIGPLFGWRQPAPEDETICQINEEPGYVLFSALGSFYLPLAIILVMYCRVYVV
AKRESRGLKSGLKTDKSDSEQVTLRIHRKNAPAGGSGMASAKTKTHFSVRLLKFSREKKAAKTLGIVVGCFVLCWLPFFLVMPIGSFFPDFKPSETVFKIVFWLG
YLNSCINPIIYPCSSQEFKKAFQNVLRIQCLCRKQSSKHALGYTLHPPSQAVEGQHKDMVRIPVGSRETFYRISKTDGVCEWKFFSSMPRGSARITVSKDQSSCT
TARVRSKSFLQVCCCVGPSTPSLDKNHQVPTIKVHTISLSENGEEV
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top