mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NLGN4X
Gene summary
Basic gene Info.Gene symbolNLGN4X
Gene nameneuroligin 4, X-linked
SynonymsASPGX2|AUTSX2|HLNX|HNL4X|NLGN4
CytomapUCSC genome browser: Xp22.33
Type of geneprotein-coding
RefGenesNM_001282145.1,
NM_001282146.1,NM_020742.3,NM_181332.2,
Descriptionneuroligin-4, X-linked
Modification date20141219
dbXrefs MIM : 300427
HGNC : HGNC
Ensembl : ENSG00000146938
HPRD : 02336
Vega : OTTHUMG00000021093
ProteinUniProt: Q8N0W4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NLGN4X
BioGPS: 57502
PathwayNCI Pathway Interaction Database: NLGN4X
KEGG: NLGN4X
REACTOME: NLGN4X
Pathway Commons: NLGN4X
ContextiHOP: NLGN4X
ligand binding site mutation search in PubMed: NLGN4X
UCL Cancer Institute: NLGN4X
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0090394negative regulation of excitatory postsynaptic membrane potential19726642
GO:0097105presynaptic membrane assembly19726642


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Ligand binding site mutations for NLGN4X

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Q105Q105KHNSC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NLGN4X
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
Q105Q105K-0.650124
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NLGN4X from PDB

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Differential gene expression and gene-gene network for NLGN4X
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NLGN4X and the right PPI network was created from samples without mutations in the LBS of NLGN4X. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NLGN4X
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004352Autistic Disorder26Biomarker, GeneticVariation
umls:C0008074Child Development Disorders, Pervasive1Biomarker
umls:C1136249Mental Retardation, X-Linked1Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NLGN4X
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NLGN4X go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
5AX2-(ACETYLAMINO)-1,5-ANHYDRO-2-DEOXY-D-GLUCITOL2wqzAQ105


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Conservation information for LBS of NLGN4X
Multiple alignments for Q8N0W4 in multiple species
LBSAA sequence# speciesSpecies


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