AutismKB 2.0

Evidence Details for NRXN1


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Basic Information Top
Gene Symbol:NRXN1 ( DKFZp313P2036,FLJ35941,Hs.22998,KIAA0578,PTHSL2 )
Gene Full Name: neurexin 1
Band: 2p16.3
Quick LinksEntrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915; HGNC ID: 8008
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NRXN1|9378|nucleotide
ATGGGGACGGCGCTGCTCCAGCGCGGGGGCTGTTTTCTTCTGTGCCTCTCGCTGCTGCTCCTGGGCTGCTGGGCGGAGCTGGGCAGCGGGCTGGAGTTTCCGGGC
GCCGAGGGCCAATGGACGCGCTTCCCCAAGTGGAACGCCTGCTGCGAGAGCGAGATGAGCTTCCAGCTCAAGACTCGCAGCGCCCGCGGCCTCGTGCTCTACTTC
GACGACGAGGGCTTCTGCGACTTCCTGGAGCTGATTCTGACGCGCGGCGGCCGCCTGCAGCTCAGCTTCTCCATCTTCTGCGCTGAGCCTGCGACGCTCCTGGCC
GACACGCCGGTTAACGACGGCGCCTGGCACAGCGTGCGCATCCGCCGCCAGTTCCGCAACACCACGCTCTTCATCGACCAGGTGGAGGCCAAGTGGGTGGAGGTC
AAGTCCAAGCGCAGGGACATGACGGTGTTCAGCGGCCTTTTCGTCGGGGGGCTGCCCCCGGAACTGCGCGCCGCGGCGCTCAAGCTCACCCTGGCCTCGGTGAGG
GAGCGGGAGCCCTTCAAGGGGTGGATTCGTGACGTGAGGGTCAACTCCTCGCAGGTCCTGCCCGTGGACAGCGGCGAGGTGAAGCTGGACGATGAGCCGCCCAAC
AGCGGCGGGGGAAGCCCGTGCGAGGCGGGCGAGGAGGGCGAGGGCGGGGTGTGCCTCAACGGAGGTGTGTGCTCCGTGGTGGACGACCAGGCCGTGTGCGACTGC
TCGCGAACCGGCTTCCGCGGCAAGGACTGCAGCCAAGAAATAAAATTCGGTCTTCAGTGTGTTTTGCCGGTGCTGTTACATGACAATGACCAAGGAAAATACTGT
TGTATAAATACAGCAAAGCCTCTAACAGAAAAAGACAACAATGTGGAAGGTCTGGCGCACCTGATGATGGGCGACCAAGGTAAAAGTAAAGGAAAAGAAGAATAT
ATTGCCACGTTCAAAGGATCTGAATACTTCTGCTACGACTTGTCTCAAAACCCCATTCAAAGCAGCAGTGATGAAATAACTCTGTCATTTAAAACCCTTCAGAGG
AATGGACTGATGCTTCACACTGGGAAATCGGCTGATTATGTCAATCTTGCCCTGAAAAATGGAGCTGTCTCTCTGGTCATTAATTTGGGATCAGGGGCCTTTGAA
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>NRXN1|9378|protein
MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKTRSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLA
DTPVNDGAWHSVRIRRQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPFKGWIRDVRVNSSQVLPVDSGEVKLDDEPPN
SGGGSPCEAGEEGEGGVCLNGGVCSVVDDQAVCDCSRTGFRGKDCSQEIKFGLQCVLPVLLHDNDQGKYCCINTAKPLTEKDNNVEGLAHLMMGDQGKSKGKEEY
IATFKGSEYFCYDLSQNPIQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNGKFNDNAWHDVKVTRNLRQHSGIGHAMV
NKLHCSVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSPSTADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLDPITFE
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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) Yes 0 (1) 3 (16) 0 (0) 1 (2) 0 (0) 3 (10) 0 (0) 0 (2) 3 (4) 68 (35)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD?/AR (Pitt-Hopkins-like)
OMIMPitt-Hopkins-like syndrome 2 (600565)
DescriptionDisrupted in ASD, ID, and other neurodevelopmental and psychiatric disorders (autosomal dominant?); Pitt-Hopkins-like syndrome-2 (autosomal recessive)
Reference(s)20468056; 19404257; 19736351; 18179900; 20531469; 17322880; 20162629; 19896112;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Wisniowiecka-Kowalnik, 2010 - aCGHASD 3 1 2 - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Vi?as-Jornet M, 2014 Spain aCGHautism - - - - 3 - 3
Imitola J, 2014 - ---autism - - - - 2 - 2
Sanders SJ, 2015 - ---ASD 2591 - - - - - -
Eriksson MA, 2015 Sweden FISH?--autism - - - - 162 - 162
Soueid J, 2016 Lebanese -autistic 35 33 2 - 41 37 78
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
Woodbury-Smith M, 2017 - MicroarrayASD - - - - 1 - -
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 2
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Liu, 2011_1 China GeneAmp 2720ASD -
3-8
- 500
(32.40%)
-
3-46
MIXED/OTHERS
Wang J, 2018_1 China -ASD -
-
- 1923
(12.48%)
-
-
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
Liu Y, 2018 - 300 4 A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
Redin C, 2017 28 - 34 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Onay H, 2016 - ABI 3100ASD - - - 30 -
Wen Z, 2017 China Illumina HiSeq 2500ASD - - - 120 Sanger sequencing
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