AutismKB 2.0

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 LinksEntrez ID:57502; OMIM: 300427; Uniprot ID:NLGNX_HUMAN; ENSEMBL ID: ENSG00000146938; HGNC ID: 14287
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLGN4X|57502|nucleotide
ATGTCACGGCCCCAGGGACTGCTATGGCTTCCTTTGTTGTTCACCCCGGTCTGCGTCATGTTAAACTCCAATGTCCTCCTGTGGTTAACTGCTCTTGCCATCAAG
TTCACCCTCATTGACAGCCAAGCACAGTATCCAGTTGTCAACACAAATTATGGCAAAATCCGGGGCCTAAGAACACCGTTACCCAATGAGATCTTGGGTCCAGTG
GAGCAGTACTTAGGGGTCCCCTATGCCTCACCCCCCACTGGAGAGAGGCGGTTTCAGCCCCCAGAACCCCCGTCCTCCTGGACTGGCATCCGAAATACTACTCAG
TTTGCTGCTGTGTGCCCCCAGCACCTGGATGAGAGATCCTTACTGCATGACATGCTGCCCATCTGGTTTACCGCCAATTTGGATACTTTGATGACCTATGTTCAA
GATCAAAATGAAGACTGCCTTTACTTAAACATCTACGTGCCCACGGAAGATGATATTCATGATCAGAACAGTAAGAAGCCCGTCATGGTCTATATCCATGGGGGA
TCTTACATGGAGGGCACCGGCAACATGATTGACGGCAGCATTTTGGCAAGCTACGGAAACGTCATCGTGATCACCATTAACTACCGTCTGGGAATACTAGGGTTT
TTAAGTACCGGTGACCAGGCAGCAAAAGGCAACTATGGGCTCCTGGATCAGATTCAAGCACTGCGGTGGATTGAGGAGAATGTGGGAGCCTTTGGCGGGGACCCC
AAGAGAGTGACCATCTTTGGCTCGGGGGCTGGGGCCTCCTGTGTCAGCCTGTTGACCCTGTCCCACTACTCAGAAGGTCTCTTCCAGAAGGCCATCATTCAGAGC
GGCACCGCCCTGTCCAGCTGGGCAGTGAACTACCAGCCGGCCAAGTACACTCGGATATTGGCAGACAAGGTCGGCTGCAACATGCTGGACACCACGGACATGGTA
GAATGCCTGCGGAACAAGAACTACAAGGAGCTCATCCAGCAGACCATCACCCCGGCCACCTACCACATAGCCTTCGGGCCGGTGATCGACGGCGACGTCATCCCA
GACGACCCCCAGATCCTGATGGAGCAAGGCGAGTTCCTCAACTACGACATCATGCTGGGCGTCAACCAAGGGGAAGGCCTGAAGTTCGTGGACGGCATCGTGGAT
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>NLGN4X|57502|protein
MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQYPVVNTNYGKIRGLRTPLPNEILGPVEQYLGVPYASPPTGERRFQPPEPPSSWTGIRNTTQ
FAAVCPQHLDERSLLHDMLPIWFTANLDTLMTYVQDQNEDCLYLNIYVPTEDDIHDQNSKKPVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITINYRLGILGF
LSTGDQAAKGNYGLLDQIQALRWIEENVGAFGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKAIIQSGTALSSWAVNYQPAKYTRILADKVGCNMLDTTDMV
ECLRNKNYKELIQQTITPATYHIAFGPVIDGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVDGIVDNEDGVTPNDFDFSVSNFVDNLYGYPEGKDTLRETI
KFMYTDWADKENPETRRKTLVALFTDHQWVAPAVATADLHAQYGSPTYFYAFYHHCQSEMKPSWADSAHGDEVPYVFGIPMIGPTELFSCNFSKNDVMLSAVVMT
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Evidence summary Top

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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.
InheritanceXL
OMIMMental retardation, X-linked (300495)
DescriptionNon-syndromic X-linked ID and/or ASD; both mutations and deletions have been reported
Reference(s)17910064; 12669065; 18413370; 14963808; 18231125; 18252227;
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.
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
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
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
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
Total Simplex Multiplex Control Affected Control Total
Thomas, 1999 - FISHautism - - - - 3 - 3
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top