AutismKB 2.0

Evidence Details for NLGN1


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Basic Information Top
Gene Symbol:NLGN1 ( KIAA1070,MGC45115,NL1 )
Gene Full Name: neuroligin 1
Band: 3q26.31
Quick LinksEntrez ID:22871; OMIM: 600568; Uniprot ID:NLGN1_HUMAN; ENSEMBL ID: ENSG00000169760; HGNC ID: 14291
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLGN1|22871|nucleotide
ATGGCACTGCCCAGATGCACGTGGCCAAATTATGTTTGGAGAGCAGTGATGGCATGCTTGGTACACCGGGGATTGGGTGCCCCATTGACTCTCTGTATGTTGGGA
TGTTTGCTTCAGGCTGGCCATGTGCTATCACAAAAATTGGATGATGTGGACCCACTGGTGGCTACCAACTTTGGAAAGATAAGAGGGATTAAGAAGGAACTCAAT
AATGAAATTTTGGGGCCTGTTATTCAATTTCTTGGGGTTCCATATGCAGCCCCACCAACAGGGGAACGTCGTTTTCAGCCTCCAGAACCACCATCTCCCTGGTCA
GATATCAGAAATGCCACTCAATTTGCTCCTGTGTGTCCCCAGAATATCATTGATGGCAGATTGCCAGAAGTCATGCTTCCTGTGTGGTTTACTAATAACTTGGAT
GTGGTTTCATCATATGTGCAAGACCAGAGCGAAGACTGCCTATATTTAAATATATATGTCCCGACTGAGGATGATATTCGGGACAGTGGGGGTCCCAAACCAGTG
ATGGTGTATATCCATGGTGGCTCATATATGGAAGGTACTGGAAATTTATATGATGGAAGTGTCTTGGCAAGTTATGGCAATGTGATCGTCATCACAGTCAACTAT
CGACTTGGAGTACTCGGTTTCTTGAGTACAGGCGATCAGGCTGCAAAGGGGAACTATGGACTCCTTGATCTCATACAAGCTTTAAGATGGACTAGTGAAAACATT
GGATTCTTTGGTGGTGACCCCTTAAGAATCACTGTTTTTGGATCTGGTGCTGGGGGTTCATGTGTCAACCTGCTGACTTTATCCCATTATTCTGAAGGTAACCGT
TGGAGCAATTCAACCAAAGGACTTTTTCAACGAGCAATAGCTCAAAGTGGAACAGCCCTTTCCAGCTGGGCTGTTAGTTTTCAACCTGCAAAATATGCTAGAATG
TTGGCCACAAAAGTTGGTTGCAATGTTTCAGATACAGTAGAGTTAGTGGAATGCCTACAGAAGAAGCCTTACAAAGAACTTGTTGACCAAGATATTCAACCAGCT
CGATACCACATAGCCTTTGGACCTGTGATTGATGGTGATGTAATACCAGACGACCCCCAGATATTGATGGAGCAAGGAGAGTTTCTCAACTATGATATAATGTTA
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>NLGN1|22871|protein
MALPRCTWPNYVWRAVMACLVHRGLGAPLTLCMLGCLLQAGHVLSQKLDDVDPLVATNFGKIRGIKKELNNEILGPVIQFLGVPYAAPPTGERRFQPPEPPSPWS
DIRNATQFAPVCPQNIIDGRLPEVMLPVWFTNNLDVVSSYVQDQSEDCLYLNIYVPTEDDIRDSGGPKPVMVYIHGGSYMEGTGNLYDGSVLASYGNVIVITVNY
RLGVLGFLSTGDQAAKGNYGLLDLIQALRWTSENIGFFGGDPLRITVFGSGAGGSCVNLLTLSHYSEGNRWSNSTKGLFQRAIAQSGTALSSWAVSFQPAKYARM
LATKVGCNVSDTVELVECLQKKPYKELVDQDIQPARYHIAFGPVIDGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVENIVDSDDGISASDFDFAVSNFVD
NLYGYPEGKDVLRETIKFMYTDWADRHNPETRRKTLLALFTDHQWVAPAVATADLHSNFGSPTYFYAFYHHCQTDQVPAWADAAHGDEVPYVLGIPMIGPTELFP
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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) 1 (1) 1 (1) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (5)
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
Glessner, 2009 - SNP microarrayASD - - - - 2195 2519 4714
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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