AutismKB 2.0

Evidence Details for ONECUT1


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Basic Information Top
Gene Symbol:ONECUT1 ( HNF-6,HNF6,HNF6A )
Gene Full Name: one cut homeobox 1
Band: 15q21.3
Quick LinksEntrez ID:3175; OMIM: 604164; Uniprot ID:HNF6_HUMAN; ENSEMBL ID: ENSG00000169856; HGNC ID: 8138
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ONECUT1|3175|nucleotide
ATGAACGCGCAGCTGACCATGGAAGCGATCGGCGAGCTGCACGGGGTGAGCCATGAGCCGGTGCCCGCCCCTGCCGACCTGCTGGGCGGCAGCCCCCACGCGCGC
AGCTCCGTGGCGCACCGCGGCAGCCACCTGCCCCCCGCGCACCCGCGCTCCATGGGCATGGCGTCCCTGCTGGACGGCGGCAGCGGCGGCGGAGATTACCACCAC
CACCACCGGGCCCCTGAGCACAGCCTGGCCGGCCCCCTGCATCCCACCATGACCATGGCCTGCGAGACTCCCCCAGGTATGAGCATGCCCACCACCTACACCACC
TTGACCCCTCTGCAGCCGCTGCCTCCCATCTCCACAGTCTCGGACAAGTTCCCCCACCATCACCACCACCACCATCACCACCACCACCCGCACCACCACCAGCGC
CTGGCGGGCAACGTGAGCGGTAGCTTCACGCTCATGCGGGATGAGCGCGGGCTGGCCTCCATGAATAACCTCTATACCCCCTACCACAAGGACGTGGCCGGCATG
GGCCAGAGCCTCTCGCCCCTCTCCAGCTCCGGTCTGGGCAGCATCCACAACTCCCAGCAAGGGCTCCCCCACTATGCCCACCCGGGGGCCGCCATGCCCACCGAC
AAGATGCTCACCCCCAACGGCTTCGAAGCCCACCACCCGGCCATGCTCGGCCGCCACGGGGAGCAGCACCTCACGCCCACCTCGGCCGGCATGGTGCCCATCAAC
GGCCTTCCTCCGCACCATCCCCACGCCCACCTGAACGCCCAGGGCCACGGGCAACTCCTGGGCACAGCCCGGGAGCCCAACCCTTCGGTGACCGGCGCGCAGGTC
AGCAATGGAAGTAATTCAGGGCAGATGGAAGAGATCAATACCAAAGAGGTGGCGCAGCGTATCACCACCGAGCTCAAGCGCTACAGCATCCCACAGGCCATCTTC
GCGCAGAGGGTGCTCTGCCGCTCCCAGGGGACCCTCTCGGACCTGCTGCGCAACCCCAAACCCTGGAGCAAACTCAAATCCGGCCGGGAGACCTTCCGGAGGATG
TGGAAGTGGCTGCAGGAGCCGGAGTTCCAGCGCATGTCCGCGCTCCGCTTAGCAGCATGCAAAAGGAAAGAACAAGAACATGGGAAGGATAGAGGCAACACACCC
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>ONECUT1|3175|protein
MNAQLTMEAIGELHGVSHEPVPAPADLLGGSPHARSSVAHRGSHLPPAHPRSMGMASLLDGGSGGGDYHHHHRAPEHSLAGPLHPTMTMACETPPGMSMPTTYTT
LTPLQPLPPISTVSDKFPHHHHHHHHHHHPHHHQRLAGNVSGSFTLMRDERGLASMNNLYTPYHKDVAGMGQSLSPLSSSGLGSIHNSQQGLPHYAHPGAAMPTD
KMLTPNGFEAHHPAMLGRHGEQHLTPTSAGMVPINGLPPHHPHAHLNAQGHGQLLGTAREPNPSVTGAQVSNGSNSGQMEEINTKEVAQRITTELKRYSIPQAIF
AQRVLCRSQGTLSDLLRNPKPWSKLKSGRETFRRMWKWLQEPEFQRMSALRLAACKRKEQEHGKDRGNTPKKPRLVFTDVQRRTLHAIFKENKRPSKELQITISQ
QLGLELSTVSNFFMNARRRSLDKWQDEGSSNSGNSSSSSSTCTKA
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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 (1) 0 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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