AutismKB 2.0

Evidence Details for NLGN3


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Basic Information Top
Gene Symbol:NLGN3 ( HNL3,KIAA1480 )
Gene Full Name: neuroligin 3
Band: Xq13.1
Quick LinksEntrez ID:54413; OMIM: 300336; Uniprot ID:NLGN3_HUMAN; ENSEMBL ID: ENSG00000196338; HGNC ID: 14289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLGN3|54413|nucleotide
ATGTGGCTGCGGCTTGGCCCGCCCTCGCTGTCCCTGAGCCCCAAGCCCACGGTTGGCAGGAGCCTGTGCCTCACCCTGTGGTTCCTCAGTTTGGCGCTGAGGGCC
AGTACCCAGGCCCCAGCACCCACAGTCAACACTCACTTTGGGAAGCTAAGGGGTGCCCGAGTACCACTGCCCAGTGAGATCCTGGGGCCTGTGGACCAATACCTG
GGGGTGCCCTACGCAGCTCCCCCGATCGGCGAGAAACGTTTCCTGCCCCCTGAACCACCCCCATCCTGGTCGGGCATCCGGAACGCCACACACTTTCCCCCAGTG
TGCCCCCAGAACATCCACACAGCTGTGCCCGAAGTCATGCTGCCGGTCTGGTTCACTGCCAACTTGGATATCGTCGCTACTTACATCCAGGAGCCCAACGAAGAC
TGTCTCTACCTGAACGTCTATGTGCCGACGGAGGATGACATCCGGGACAGTGGTGCTAAACCCGTCATGGTCTACATCCACGGAGGCTCTTACATGGAAGGGACA
GGCAACATGATTGATGGCAGCATCCTCGCCAGTTATGGCAATGTCATCGTCATCACCCTCAACTATCGGGTTGGAGTGCTAGGTTTCCTGAGTACTGGAGATCAG
GCTGCCAAGGGCAACTATGGGCTCCTTGACCAGATCCAGGCCCTCCGCTGGGTGAGCGAGAATATTGCCTTCTTCGGGGGAGACCCCCGCCGGATCACTGTCTTT
GGCTCGGGCATTGGTGCATCCTGCGTCAGCCTCCTCACGTTGTCACATCACTCAGAGGGACTTTTCCAGAGAGCCATCATCCAAAGTGGCTCTGCTCTGTCCAGC
TGGGCTGTGAACTACCAACCAGTGAAGTACACCAGCCTGCTGGCAGACAAAGTGGGCTGTAATGTGCTGGACACCGTGGATATGGTGGACTGTCTTCGGCAAAAG
AGTGCCAAGGAGCTGGTAGAGCAGGACATCCAGCCAGCCCGCTACCACGTGGCCTTTGGCCCTGTGATTGATGGTGATGTCATTCCTGATGACCCTGAGATCCTC
ATGGAGCAGGGCGAGTTCCTCAACTATGACATCATGCTAGGTGTCAACCAGGGCGAGGGTCTCAAGTTTGTGGAAGGGGTGGTGGACCCTGAGGATGGTGTCTCT
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>NLGN3|54413|protein
MWLRLGPPSLSLSPKPTVGRSLCLTLWFLSLALRASTQAPAPTVNTHFGKLRGARVPLPSEILGPVDQYLGVPYAAPPIGEKRFLPPEPPPSWSGIRNATHFPPV
CPQNIHTAVPEVMLPVWFTANLDIVATYIQEPNEDCLYLNVYVPTEDDIRDSGAKPVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITLNYRVGVLGFLSTGDQ
AAKGNYGLLDQIQALRWVSENIAFFGGDPRRITVFGSGIGASCVSLLTLSHHSEGLFQRAIIQSGSALSSWAVNYQPVKYTSLLADKVGCNVLDTVDMVDCLRQK
SAKELVEQDIQPARYHVAFGPVIDGDVIPDDPEILMEQGEFLNYDIMLGVNQGEGLKFVEGVVDPEDGVSGTDFDYSVSNFVDNLYGYPEGKDTLRETIKFMYTD
WADRDNPETRRKTLVALFTDHQWVEPSVVTADLHARYGSPTYFYAFYHHCQSLMKPAWSDAAHGDEVPYVFGVPMVGPTDLFPCNFSKNDVMLSAVVMTYWTNFA
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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) 1 (3) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 3 (12) 44 (17)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Wentz E, 2014 - ---Autistic disorder 1 - 1 - 2 - 2
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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

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