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 Links	Entrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915

Sequences Top

nucleotide Sequence
Protein Sequence

>NRXN1|9378|nucleotide
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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.

Inheritance	AD?/AR (Pitt-Hopkins-like)
OMIM	Pitt-Hopkins-like syndrome 2 (600565)
Description	Disrupted 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;
Level	Level 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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	1 (detail)	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	Diagnosis	Evidence Level
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	blood	autism	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	blood	ASD	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 Cells	ASD	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	blood	ASD	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 cells	ASD	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	blood	ASD	Mutation screen
Subjects: 313 Normal Controls: 500 Methods: direct sequencing Evidence Details: Functional rare mutation was found in ASD case
Iossifov, 2012_1	human	blood	ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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	gain	1	-	DeNovo	Pinto, 2010
AutCNV0000827	2	2p16.3	loss	1	-	DeNovo	Pinto, 2010
AutCNV0000715	2	2p16.3	loss	1	-	CNVs Only Present In Patients;	Bremer, 2011
AutCNV0000763	2	2p16.3	loss	1	-	maternal	Pinto, 2010
AutCNV0000828	2	2p16.3	loss	1	-	DeNovo	Pinto, 2010
AutCNV0000829	2	2p16.3	loss	1	-	DeNovo	Pinto, 2010
AutCNV0000995	2	2p16.3	loss	1	-	paternal	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; DeNovo	Sanders, 2011
AutCNV0004202	2	2p16.3	loss	1	-	Overlapping/Recurrent CNVs; DeNovo	Sanders, 2011
AutCNV0004401	2	2p16.3	loss	1	-	Overlapping/Recurrent CNVs;	Sanders, 2011
AutCNV0002375	2	2p16.3	loss	1	-	maternal	Pinto, 2010
AutCNV0002376	2	2p16.3	gain	1	-	maternal	Pinto, 2010
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; DeNovo	Sanders, 2011
AutCNV0004205	2	2p16.3	loss	1	-	Overlapping/Recurrent CNVs; DeNovo	Sanders, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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