AutismKB 2.0

Evidence Details for HES6


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Basic Information Top
Gene Symbol:HES6 ( HES-6,bHLHb41,bHLHc23 )
Gene Full Name: hairy and enhancer of split 6 (Drosophila)
Band: 2q37.3
Quick LinksEntrez ID:55502; OMIM: 610331; Uniprot ID:HES6_HUMAN; ENSEMBL ID: ENSG00000144485; HGNC ID: 18254
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HES6|55502|nucleotide
ATGGCGCCACCCGCGGCGCCTGGCCGGGACCGTGTGGGCCGTGAGGATGAGGACGGCTGGGAGACGCGAGGGGACCGCAAGGCCCGGAAGCCCCTGGTGGAGAAG
AAGCGGCGCGCGCGGATCAACGAGAGCCTGCAGGAGCTGCGGCTGCTGCTGGCGGGCGCCGAGGCCAAGCTGGAGAACGCCGAAGTGCTGGAGCTGACGGTGCGG
CGGGTCCAGGGTGTGCTGCGGGGCCGGGCGCGCGAGCGCGAGCAGCTGCAGGCGGAAGCGAGCGAGCGCTTCGCTGCCGGCTACATCCAGTGCATGCACGAGGTG
CACACGTTCGTGTCCACGTGCCAGGCCATCGACGCTACCGTCGCTGCCGAGCTCCTGAACCATCTGCTCGAGTCCATGCCGCTGCGTGAGGGCAGCAGCTTCCAG
GATCTGCTGGGGGACGCCCTGGCGGGGCCACCTAGAGCCCCTGGACGGAGTGGCTGGCCTGCGGGGGGCGCTCCGGGATCCCCAATACCCAGCCCCCCGGGTCCT
GGGGACGACCTGTGCTCCGACCTGGAGGAGGCCCCTGAGGCTGAACTGAGTCAGGCTCCTGCTGAGGGGCCCGACTTGGTGCCCGCAGCCCTGGGCAGCCTGACC
ACAGCCCAAATTGCCCGGAGTGTCTGGAGGCCTTGGTGA




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>HES6|55502|protein
MAPPAAPGRDRVGREDEDGWETRGDRKARKPLVEKKRRARINESLQELRLLLAGAEAKLENAEVLELTVRRVQGVLRGRAREREQLQAEASERFAAGYIQCMHEV
HTFVSTCQAIDATVAAELLNHLLESMPLREGSSFQDLLGDALAGPPRAPGRSGWPAGGAPGSPIPSPPGPGDDLCSDLEEAPEAELSQAPAEGPDLVPAALGSLT
TAQIARSVWRPW


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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) 0 (0) 0 (0) 0 (0) 0 (0) 1 (3)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.03294 Up 60.1785
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1694268
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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