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
Wisniowiecka-Kowalnik, 2010	-	aCGH			ASD	3	1	2	-	-	-	-
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
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
Eriksson MA, 2015	Sweden	FISH?	-	-	autism	-	-	-	-	162	-	162
Sanders SJ, 2015	-	-	-	-	ASD	2591	-	-	-	-	-	-
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

AutismKB 2.0

Evidence Details for NRXN1