AutismKB 2.0

Evidence Details for GON4L


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Basic Information Top
Gene Symbol:GON4L ( DKFZp761I241,FLJ12923,FLJ20203,FLJ23040,GON-4,GON4,KIAA1606,MGC138817,MGC138818,RP11-243J18.4 )
Gene Full Name: gon-4-like (C. elegans)
Band: 1q22
Quick LinksEntrez ID:54856; OMIM: 610393; Uniprot ID:GON4L_HUMAN; ENSEMBL ID: ENSG00000116580; HGNC ID: 25973
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GON4L|54856|nucleotide
ATGTTGCCCTGTAAGAAGAGAAGAACTACAGTGACAGAGTCCCTACAGCATAAAGGCAATCAAGAGGAAAACAACGTAGACCTAGAATCAGCCGTTAAACCAGAA
TCTGACCAGGTTAAGGACTTGAGTTCGGTGTCACTATCCTGGGATCCAAGTCATGGCAGAGTAGCTGGCTTCGAAGTACAGTCTTTGCAGGATGCAGGAAATCAG
CTTGGTATGGAGGATACATCTCTGAGCTCTGGAATGCTCACCCAGAACACAAATGTACCAATTCTAGAAGGTGTTGATGTGGCCATCTCTCAGGGAATCACCCTA
CCTTCCTTGGAGTCTTTTCACCCCCTTAATATACACATTGGTAAAGGAAAACTCCACGCTACTGGCTCAAAGAGAGGGAAAAAAATGACACTCAGGCCTGGGCCA
GTTACCCAAGAAGACAGATGTGATCATCTTACCCTAAAGGAGCCTTTTTCAGGAGAGCCTAGTGAAGAAGTCAAGGAAGAAGGAGGGAAACCTCAAATGAATTCT
GAAGGGGAGATACCTTCCCTGCCATCAGGCAGCCAATCTGCAAAACCAGTAAGCCAGCCCAGGAAATCAACCCAGCCAGATGTTTGTGCCTCTCCTCAAGAAAAG
CCACTCAGGACTCTGTTTCACCAACCTGAGGAAGAGATAGAAGATGGTGGACTCTTCATTCCAATGGAAGAACAAGACAATGAAGAAAGTGAGAAAAGGAGAAAA
AAGAAAAAGGGTACCAAGAGGAAACGAGATGGAAGGGGTCAAGAAGGGACCTTGGCATATGACCTGAAACTGGATGACATGCTTGACCGTACCTTGGAGGATGGT
GCCAAGCAGCACAATCTAACAGCAGTCAATGTCCGAAACATCCTTCATGAAGTAATCACAAATGAACACGTGGTAGCTATGATGAAAGCAGCCATCAGTGAGACG
GAAGATATGCCAATGTTTGAGCCTAAAATGACACGCTCTAAACTGAAGGAAGTAGTGGAAAAAGGAGTGGTAATTCCAACATGGAATATTTCACCAATTAAGAAG
GCCAATGAAATTAAGCCTCCTCAGTTTGTGGATATCCACCTTGAAGAAGATGATTCCTCAGATGAAGAATACCAGCCGGATGATGAAGAAGAAGATGAAACTGCT
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>GON4L|54856|protein
MLPCKKRRTTVTESLQHKGNQEENNVDLESAVKPESDQVKDLSSVSLSWDPSHGRVAGFEVQSLQDAGNQLGMEDTSLSSGMLTQNTNVPILEGVDVAISQGITL
PSLESFHPLNIHIGKGKLHATGSKRGKKMTLRPGPVTQEDRCDHLTLKEPFSGEPSEEVKEEGGKPQMNSEGEIPSLPSGSQSAKPVSQPRKSTQPDVCASPQEK
PLRTLFHQPEEEIEDGGLFIPMEEQDNEESEKRRKKKKGTKRKRDGRGQEGTLAYDLKLDDMLDRTLEDGAKQHNLTAVNVRNILHEVITNEHVVAMMKAAISET
EDMPMFEPKMTRSKLKEVVEKGVVIPTWNISPIKKANEIKPPQFVDIHLEEDDSSDEEYQPDDEEEDETAEESLLESDVESTASSPRGAKKSRLRQSSEMTETDE
ESGILSEAEKVTTPAIRHISAEVVPMGPPPPPKPKQTRDSTFMEKLHAVDEELASSPVCMDSFQPMDDSLIAFRTRSKMPLKDVPLGQLEAELQAPDITPDMYDP
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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.

Simple Query:


  (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