AutismKB 2.0

Evidence Details for OVOL1


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Basic Information Top
Gene Symbol:OVOL1 ( HOVO1 )
Gene Full Name: ovo-like 1(Drosophila)
Band: 11q13.1
Quick LinksEntrez ID:5017; OMIM: 602313; Uniprot ID:OVOL1_HUMAN; ENSEMBL ID: ENSG00000172818; HGNC ID: 8525
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OVOL1|5017|nucleotide
ATGCCCCGCGCGTTCCTGGTGAAGAAGCCGTGCGTCTCCACGTGCAAGAGGAACTGGAGCGAGCTCCCCGACGAGGAGCGCGGCGAGATCTACGTGCCAGTCAGC
CTGGGCTTCTGCCCACCACAGCCCTACCGGGAGCCGGAACCCTCTGTGGCCGAACCCCCTTCCTGCCCGCTGGCTTTGAACATGAGCCTTCGAGACTCTAGCTAC
AGCATGGCCCCCGGGCCCTGTGTGGTGGCCCAGCTGCCCTCTGAAGACATGGGCCACTTGACAGACCCCCAGAGCAGAGACCATGGCTTCCTGCGCACCAAGATG
AAGGTGACCCTTGGGGACAGTCCCAGTGGAGACCTGTTCACCTGCCGTGTCTGCCAGAAGGCCTTCACCTACCAGCGCATGCTGAACCGCCACATGAAGTGTCAC
AACGACGTCAAGAGGCACCTCTGCACGTACTGCGGGAAGGGCTTCAATGACACCTTCGACCTCAAGAGACACGTCCGAACTCACACTGGCGTGCGGCCCTACAAG
TGCAGCCTGTGTGACAAGGCCTTCACGCAGCGCTGCTCTCTGGAGTCTCACCTCAAGAAGATCCATGGTGTGCAGCAGAAGTACGCGTACAAGGAGCGGCGGGCC
AAGCTGTACGTGTGTGAGGAGTGCGGCTGCACATCTGAGAGCCAGGAGGGCCACGTCCTGCACCTGAAGGAGCACCACCCTGACAGCCCGCTGCTGCGCAAGACC
TCCAAGAAGGTGGCCGTGGCACTACAGAACACTGTCACTTCCCTGCTGCAGGGCAGCCCCCACCTGTGA



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>OVOL1|5017|protein
MPRAFLVKKPCVSTCKRNWSELPDEERGEIYVPVSLGFCPPQPYREPEPSVAEPPSCPLALNMSLRDSSYSMAPGPCVVAQLPSEDMGHLTDPQSRDHGFLRTKM
KVTLGDSPSGDLFTCRVCQKAFTYQRMLNRHMKCHNDVKRHLCTYCGKGFNDTFDLKRHVRTHTGVRPYKCSLCDKAFTQRCSLESHLKKIHGVQQKYAYKERRA
KLYVCEECGCTSESQEGHVLHLKEHHPDSPLLRKTSKKVAVALQNTVTSLLQGSPHL


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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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