Evidence Details for NLGN4X

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Basic Information Top

Gene Symbol:	NLGN4X ( ASPGX2,AUTSX2,HLNX,HNLX,KIAA1260,MGC22376,NLGN,NLGN4 )
Gene Full Name:	neuroligin 4, X-linked
Band:	Xp22.32-p22.31
Quick Links	Entrez ID:57502; OMIM: 300427; Uniprot ID:NLGNX_HUMAN; ENSEMBL ID: ENSG00000146938; HGNC ID: 14287
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>NLGN4X|57502|nucleotide
ATGTCACGGCCCCAGGGACTGCTATGGCTTCCTTTGTTGTTCACCCCGGTCTGCGTCATGTTAAACTCCAATGTCCTCCTGTGGTTAACTGCTCTTGCCATCAAG
TTCACCCTCATTGACAGCCAAGCACAGTATCCAGTTGTCAACACAAATTATGGCAAAATCCGGGGCCTAAGAACACCGTTACCCAATGAGATCTTGGGTCCAGTG
GAGCAGTACTTAGGGGTCCCCTATGCCTCACCCCCCACTGGAGAGAGGCGGTTTCAGCCCCCAGAACCCCCGTCCTCCTGGACTGGCATCCGAAATACTACTCAG
TTTGCTGCTGTGTGCCCCCAGCACCTGGATGAGAGATCCTTACTGCATGACATGCTGCCCATCTGGTTTACCGCCAATTTGGATACTTTGATGACCTATGTTCAA
GATCAAAATGAAGACTGCCTTTACTTAAACATCTACGTGCCCACGGAAGATGATATTCATGATCAGAACAGTAAGAAGCCCGTCATGGTCTATATCCATGGGGGA
TCTTACATGGAGGGCACCGGCAACATGATTGACGGCAGCATTTTGGCAAGCTACGGAAACGTCATCGTGATCACCATTAACTACCGTCTGGGAATACTAGGGTTT
TTAAGTACCGGTGACCAGGCAGCAAAAGGCAACTATGGGCTCCTGGATCAGATTCAAGCACTGCGGTGGATTGAGGAGAATGTGGGAGCCTTTGGCGGGGACCCC
AAGAGAGTGACCATCTTTGGCTCGGGGGCTGGGGCCTCCTGTGTCAGCCTGTTGACCCTGTCCCACTACTCAGAAGGTCTCTTCCAGAAGGCCATCATTCAGAGC
GGCACCGCCCTGTCCAGCTGGGCAGTGAACTACCAGCCGGCCAAGTACACTCGGATATTGGCAGACAAGGTCGGCTGCAACATGCTGGACACCACGGACATGGTA
GAATGCCTGCGGAACAAGAACTACAAGGAGCTCATCCAGCAGACCATCACCCCGGCCACCTACCACATAGCCTTCGGGCCGGTGATCGACGGCGACGTCATCCCA
GACGACCCCCAGATCCTGATGGAGCAAGGCGAGTTCCTCAACTACGACATCATGCTGGGCGTCAACCAAGGGGAAGGCCTGAAGTTCGTGGACGGCATCGTGGAT
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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	2 (2)	1 (4)	0 (0)	3 (4)	0 (0)	0 (0)	0 (0)	0 (0)	3 (8)	46 (18)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	XL
OMIM	Mental retardation, X-linked (300495)
Description	Non-syndromic X-linked ID and/or ASD; both mutations and deletions have been reported
Reference(s)	17910064; 12669065; 18413370; 14963808; 18231125; 18252227;
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
Wang, 2009_1	Discovery	Illumina HumanHap550 BeadChip	780	1299 (-)			ASD	- -	- -

Case Control Based Association Studies: 1

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
CAUCASIAN
Wang, 2009_2	Discovery	Illumina HumanHap550 BeadChip	1204 (-)			ASD	10.3±6.6 -	10.9±6.7	6491 (-)	8.8±5.4 -

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
Thomas, 1999	-	FISH			autism	-	-	-	-	3	-	3
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Edens, 2011	Honduras	aCGH			autism	-	-	-	-	1	-	1
Edens, 2011	Austria	FISH, aCGH			autism	-	-	-	-	1	-	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: 2

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ylisaukko-oja, 2005_1	Finland	Big Dye Terminator v.3.1 kit, ABI3730 DNA sequencer	100	122 (-)			ASD	- -	- -
Wermter, 2008_1	Germany	PCR-RFLP	107	107 (4.67%)			ASD	12.5±4.7 -	99.84±19 -

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
CAUCASIAN
Kelemenova, 2010_1	Slovakia	-			ASD	- -	-	85 (-)	- -
MIXED/OTHERS
Xu X, 2014_1	Chinese	ABI 3100/3130			autism	6 -	-	453 (25.17%)	20 -
Xu X, 2014_1	Chinese	ABI 3100/3130			autism	6 -	-	453 (25.17%)	20 -	-

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
No matched NGS de novo Mutation Studies!

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
No matched NGS Other Studies!

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 NLGN4X

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics