AutismKB


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Evidence Detail 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
Sequences Top
>NRXN1|9378|nucleotide
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>NRXN1|9378|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (1) 0 (0) 2 (8) 0 (0) 1 (1) 3 (4) 28 (7)
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.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
ASIAN
Liu, 2011_1 China 1 (detail) 313
(15.34%)
ASD -
3-8
- 500
(32.40%)
-
3-46
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Feng, 2006_1 human -ASD genetics: mutation screen
  • Subjects: 264
  • Normal Controls: 525
  • Methods: DOVAM-S (Detection of Virtually All Mutations-SSCP)
  • Evidence Details: Two putative missense (p.S14l, p.T40S) structural variants were identified in the neurexin 1beta gene in four Caucasian patients with autism and not in 535 healthy Caucasian controls (4/203 vs. 0/535, P=0.0056).
Yan, 2008_1 human bloodautism genetics: mutation screen
  • Subjects: 116
  • Normal Controls: 192
  • Methods: PCR
  • Evidence Details: Only one ultra-rare structural variant was found in controls (5/116 vs. 1/192; P = 0.03, Fisher's exact test, one-sided).
Kim, 2008_1 human bloodASD genetics: chromosome abnormal
  • Subjects: 2
  • Normal Controls: -
  • Methods: FISH
  • Evidence Details: Two DGAP subjects with an ASD phenotype, DGAP123 and DGAP200, display chromosomal breakpoints in 2p16.3: DGAP123 is a female subject with a familial rearrangement, 46,XX,ins(16;2)(q22.1;p16.1p16.3)pat, and DGAP200 is a male with a de novo apparently balanced translocation, 46,XY,t(1;2)(q31.3;p16.3)dn.
Kim, 2008_2 human Lymphoblastoid CellsASD RNA expression
  • Subjects: 3
  • Normal Controls: -
  • Methods: RT-PCR
  • Evidence Details: The ~82 kDa band was consistently and significantly reduced in intensity in lysates from DGAP123 and from her father, DGAP124, relative to the proband's mother, DGAP123-2, and to normal controls.
Kim, 2008_3 human bloodASD genetics: mutation screen
  • Subjects: 57
  • Normal Controls: 57
  • Methods: direct sequencing
  • Evidence Details: A number of rare sequence variants in the coding region, including two missense changes in conserved residues of the a-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively.
Yasuda, 2011_1 human lymphoblastoid cellsASD mRNA expression level
  • Subjects: 35
  • Normal Controls: 35
  • Methods: RT-PCR
  • Evidence Details: Expression levels of NRXN1 mRNA were not quantitatively measurable in lymphoblastoid cells
Liu, 2011_1 human bloodASD Mutation screen
  • Subjects: 313
  • Normal Controls: 500
  • Methods: direct sequencing
  • Evidence Details: Functional rare mutation was found in ASD case
Iossifov, 2012_1 human bloodASD Mutation screen
  • Subjects: 343 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000334 2 2p16 loss 5 - CNVs Not Present In Control; Denovo CNVs; Bucan, 2009
AutCNV0000673 2 2p16.3 loss 3 2 Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000674 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000675 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000709 2 2p16.3 loss 1 - CNVs Only Present In Patients; Soysal, 2011
AutCNV0000816 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000827 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000715 2 2p16.3 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000763 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000828 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000829 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0000995 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002375 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002376 2 2p16.3 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0003136 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003800 2 2p16.3 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004201 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004202 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004401 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0003137 2 2p16.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003138 2 2p16.3 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003139 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003482 2 2p16.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004203 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004204 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004205 2 2p16.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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