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 Links	Entrez ID:9378; OMIM: 600565; Uniprot ID:NRX1A_HUMAN; ENSEMBL ID: ENSG00000179915; HGNC ID: 8008
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>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

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	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.

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.

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Wisniowiecka-Kowalnik, 2010	-	aCGH			ASD	3	1	2	-	-	-	-
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	-	aCGH			ASD	-	-	-	-	223	-	223
Soysal, 2011	-	aCGH	-	-	ASD	-	-	-	-	1	-	1
Vi?as-Jornet M, 2014	Spain	aCGH			autism	-	-	-	-	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	-	WGS			ASD	200	-	-	-	200	-	-
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-
Woodbury-Smith M, 2017	-	Microarray			ASD	-	-	-	-	1	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 0

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Liu, 2011_1	China	GeneAmp 2720			ASD	- 3-8	-	500 (32.40%)	- 3-46
MIXED/OTHERS
Wang J, 2018_1	China	-			ASD	- -	-	1923 (12.48%)	- -

Large Scale Expression Studies Top

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

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

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

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Onay H, 2016	-	ABI 3100			ASD	-	-	-	30	-
Wen Z, 2017	China	Illumina HiSeq 2500			ASD	-	-	-	120	Sanger sequencing

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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.

Simple Query:

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

AutismKB 2.0

Evidence Details for NRXN1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics