AutismKB 2.0

Evidence Details for NR0B1


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Basic Information Top
Gene Symbol:NR0B1 ( AHC,AHCH,AHX,DAX-1,DAX1,DSS,GTD,HHG,NROB1 )
Gene Full Name: nuclear receptor subfamily 0, group B, member 1
Band: Xp21.2
Quick LinksEntrez ID:190; OMIM: 300473; Uniprot ID:NR0B1_HUMAN; ENSEMBL ID: ENSG00000169297; HGNC ID: 7960
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NR0B1|190|nucleotide
ATGGCGGGCGAGAACCACCAGTGGCAGGGCAGCATCCTCTACAACATGCTTATGAGCGCGAAGCAAACGCGCGCGGCTCCTGAGGCTCCAGAGACGCGGCTGGTG
GATCAGTGCTGGGGCTGTTCGTGCGGCGATGAGCCCGGGGTGGGCAGAGAGGGGCTGCTGGGCGGGCGGAACGTGGCGCTCCTGTACCGCTGCTGCTTTTGCGGT
AAAGACCACCCACGGCAGGGCAGCATCCTCTACAGCATGCTGACGAGCGCAAAGCAAACGTACGCGGCACCGAAGGCGCCCGAGGCGACGCTGGGTCCGTGCTGG
GGCTGTTCGTGCGGCTCTGATCCCGGGGTGGGCAGAGCGGGGCTTCCGGGTGGGCGGCCCGTGGCACTCCTGTACCGCTGCTGCTTTTGTGGTGAAGACCACCCG
CGGCAGGGCAGCATCCTCTACAGCTTGCTCACTAGCTCAAAGCAAACGCACGTGGCTCCGGCAGCGCCCGAGGCACGGCCAGGGGGCGCGTGGTGGGACCGCTCC
TACTTCGCGCAGAGGCCAGGGGGTAAAGAGGCGCTACCAGGCGGGCGGGCCACGGCGCTTCTGTACCGCTGCTGCTTTTGCGGTGAAGACCACCCGCAGCAGGGC
AGCACCCTCTACTGCGTGCCCACGAGCACAAATCAAGCGCAGGCGGCTCCGGAGGAGCGGCCGAGGGCCCCCTGGTGGGACACCTCCTCTGGTGCGCTGCGGCCG
GTGGCGCTCAAGAGTCCACAGGTGGTCTGCGAGGCAGCCTCAGCGGGCCTGTTGAAGACGCTGCGCTTCGTCAAGTACTTGCCCTGCTTCCAGGTGCTGCCCCTG
GACCAGCAGCTGGTGCTGGTGCGCAACTGCTGGGCGTCCCTGCTCATGCTTGAGCTGGCCCAGGACCGCTTGCAGTTCGAGACTGTGGAAGTCTCGGAGCCCAGC
ATGCTGCAGAAGATCCTCACCACCAGGCGGCGGGAGACCGGGGGCAACGAGCCACTGCCCGTGCCCACGCTGCAGCACCATTTGGCACCGCCGGCGGAGGCCAGG
AAGGTGCCCTCCGCCTCCCAGGTCCAAGCCATCAAGTGCTTTCTTTCCAAATGCTGGAGTCTGAACATCAGTACCAAGGAGTACGCCTACCTCAAGGGGACCGTG
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>NR0B1|190|protein
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCW
GCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQG
STLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPS
MLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top