AutismKB 2.0

Evidence Details for AHRR


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Basic Information Top
Gene Symbol:AHRR ( AHH,AHHR,KIAA1234,MGC167813,MGC176630,bHLHe77 )
Gene Full Name: aryl-hydrocarbon receptor repressor
Band: 5p15.33
Quick LinksEntrez ID:57491; OMIM: 606517; Uniprot ID:AHRR_HUMAN; ENSEMBL ID: ENSG00000063438; HGNC ID: 346
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AHRR|57491|nucleotide
ATGCCGAGGACGATGATCCCGCCGGGGGAGTGCACGTACGCGGGCCGGAAGCGGAGGAGGCCCCTGCAGAAACAGAGGCCCGCCGTGGGGGCAGAGAAGTCCAAC
CCCTCCAAGCGACACCGGGACCGCCTCAACGCCGAGTTGGACCACCTGGCCAGCCTGCTGCCGTTCCCGCCTGACATCATCTCCAAGCTGGACAAGCTTTCTGTC
CTGCGCCTCAGTGTCAGTTACCTCCGGGTGAAGAGCTTCTTCCAAGTCGTGCAGGAGCAGAGCTCACGGCAGCCTGCGGCCGGCGCCCCCTCGCCCGGAGACAGC
TGTCCTCTTGCAGGGTCTGCCGTGCTGGAGGGAAGGCTGCTGTTGGAGTCTCTTAATGGCTTTGCTCTGGTCGTGAGTGCAGAAGGGACGATATTTTATGCATCA
GCAACGATCGTGGACTATCTGGGCTTCCATCAGACGGATGTAATGCACCAGAACATTTATGACTACATCCACGTGGACGACCGCCAGGACTTCTGCCGGCAGCTC
CACTGGGCCATGGACCCTCCCCAGGTGGTGTTTGGGCAGCCCCCGCCCTTGGAGACAGGAGATGATGCTATCCTGGGGAGGCTGCTCAGGGCCCAGGAGTGGGGC
ACAGGCACGCCCACCGAGTACTCGGCCTTCCTGACCCGCTGCTTCATCTGCCGTGTGCGCTGCCTGCTGGACAGCACCTCGGGCTTCCTGGCCCGGGGGTCACAG
GCTTGGCAGCTGCGGCTCTGCTGTCCCGAGCCACTCATGACGATGCAGTTTCAAGGAAAACTAAAATTCCTGTTTGGACAGAAGAAGAAGGCGCCGTCAGGAGCC
ATGCTCCCGCCGCGGCTGTCGCTGTTCTGCATTGCGGCACCCGTTCTCCTCCCCTCCGCAGCGGAGATGAAAATGAGGAGCGCGCTCCTGAGGGCAAAACCCAGA
GCAGACACCGCAGCCACCGCGGATGCAAAAGTAAAAGCCACCACCAGTCTGTGCGAATCGGAACTGCATGGAAAACCCAATTACTCAGCAGGAAGGAGCAGCAGA
GAGAGCGGCGTTTTGGTGCTCAGGGAACAGACTGACGCTGGCCGATGGGCACAGGTTCCCGCCAGGGCCCCATGCCTGTGCCTCCGGGGTGGCCCTGACCTTGTC
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>AHRR|57491|protein
MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSVSYLRVKSFFQVVQEQSSRQPAAGAPSPGDS
CPLAGSAVLEGRLLLESLNGFALVVSAEGTIFYASATIVDYLGFHQTDVMHQNIYDYIHVDDRQDFCRQLHWAMDPPQVVFGQPPPLETGDDAILGRLLRAQEWG
TGTPTEYSAFLTRCFICRVRCLLDSTSGFLARGSQAWQLRLCCPEPLMTMQFQGKLKFLFGQKKKAPSGAMLPPRLSLFCIAAPVLLPSAAEMKMRSALLRAKPR
ADTAATADAKVKATTSLCESELHGKPNYSAGRSSRESGVLVLREQTDAGRWAQVPARAPCLCLRGGPDLVLDPKGGSGDREEEQHRMLSRASGVTGRRETPGPTK
PLPWTAGKHSEDGARPRLQPSKNDPPSLRPMPRGSCLPCPCVQGTFRNSPISHPPSPSPSAYSSRTSRPMRDVGEDQVHPPLCHFPQRSLQHQLPQPGAQRFATR
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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) 0 (2) 0 (0) 0 (0) 1 (1) 2 (2) 0 (0) 0 (0) 0 (0) 21 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top