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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
0.94 Down -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AI223445
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Jiang YH, 2013 - 32 39 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018