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 AGA
Gene summary
Basic gene Info.Gene symbolAGA
Gene nameaspartylglucosaminidase
CytomapUCSC genome browser: 4q34.3
Type of geneprotein-coding
DescriptionN(4)-(beta-N-acetylglucosaminyl)-L-asparaginaseN4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidaseaspartylglucosylamine deaspartylaseglycosylasparaginase
Modification date20141220
dbXrefs MIM : 613228
Ensembl : ENSG00000038002
HPRD : 01949
Vega : OTTHUMG00000160723
ProteinUniProt: P20933
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AGA
BioGPS: 175
PathwayNCI Pathway Interaction Database: AGA
Pathway Commons: AGA
ContextiHOP: AGA
ligand binding site mutation search in PubMed: AGA
UCL Cancer Institute: AGA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006517protein deglycosylation1281977

Ligand binding site mutations for AGA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for AGA
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
(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 AGA from PDB

Differential gene expression and gene-gene network for AGA
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 AGA and the right PPI network was created from samples without mutations in the LBS of AGA. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for AGA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268225Aspartylglucosaminuria38Biomarker, GeneticVariation

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

Pharmacological information for AGA
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 AGA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of AGA
Multiple alignments for P20933 in multiple species
LBSAA sequence# speciesSpecies
D237PGRVGDSPIPG3Caenorhabditis elegans, Mus musculus, Rattus norvegicus
D237HGRVGDSPIPG1Homo sapiens
D237PGRVGDGPIVG1Arabidopsis thaliana
G226GTSTNGIKFKI2Homo sapiens, Mus musculus
G226GTSTNGATYKI1Arabidopsis thaliana
G226GTSSNGARFKI1Caenorhabditis elegans
G226GTSTNGLKFKI1Rattus norvegicus
G258AAAATGDGDTL2Mus musculus, Rattus norvegicus
G258AAAATGNGDIL1Homo sapiens
G258GCGATGDGDTM1Arabidopsis thaliana
G258GAAATGDGDVM1Caenorhabditis elegans
G260AATGDGDTLLR2Mus musculus, Rattus norvegicus
G260AATGNGDILMR1Homo sapiens
G260GATGDGDTMMR1Arabidopsis thaliana
G260AATGDGDVMMR1Caenorhabditis elegans
I227TSTNGIKFKIH1Homo sapiens
I227TSTNGATYKIP1Arabidopsis thaliana
I227TSSNGARFKIP1Caenorhabditis elegans
I227TSTNGIKFKIP1Mus musculus
I227TSTNGLKFKIP1Rattus norvegicus
R234FKIPGRVGDSP3Caenorhabditis elegans, Mus musculus, Rattus norvegicus
R234FKIHGRVGDSP1Homo sapiens
R234YKIPGRVGDGP1Arabidopsis thaliana
S238GRVGDSPIPGA4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
S238GRVGDGPIVGS1Arabidopsis thaliana
T206IHSHDTIGMVV2Mus musculus, Rattus norvegicus
T206DRGHDTIGMVV1Homo sapiens
T206PHNHDTISMAV1Arabidopsis thaliana
T206KTNHDTIGMVV1Caenorhabditis elegans
T257GAAAATGDGDT2Mus musculus, Rattus norvegicus
T257GAAAATGNGDI1Homo sapiens
T257GGCGATGDGDT1Arabidopsis thaliana
T257GGAAATGDGDV1Caenorhabditis elegans

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