|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for AGA |
 Gene summary |
| Basic gene Info. | Gene symbol | AGA |
| Gene name | aspartylglucosaminidase | |
| Synonyms | AGU|ASRG|GA | |
| Cytomap | UCSC genome browser: 4q34.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000027.3, NM_001171988.1,NR_033655.1, | |
| Description | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginaseN4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidaseaspartylglucosylamine deaspartylaseglycosylasparaginase | |
| Modification date | 20141220 | |
| dbXrefs | MIM : 613228 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000038002 | ||
| HPRD : 01949 | ||
| Vega : OTTHUMG00000160723 | ||
| Protein | UniProt: P20933 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AGA | |
| BioGPS: 175 | ||
| Pathway | NCI Pathway Interaction Database: AGA | |
| KEGG: AGA | ||
| REACTOME: AGA | ||
| Pathway Commons: AGA | ||
| Context | iHOP: AGA | |
| ligand binding site mutation search in PubMed: AGA | ||
| UCL Cancer Institute: AGA | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006517 | protein deglycosylation | 1281977 |
| Top |
| Ligand binding site mutations for AGA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D237 | D237G | COAD | 1 | R234 | R234C | COAD | 1 | G260 | D261N | LUSC | 1 | R234 | R234L | STAD | 1 |
| 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. |
| Top |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | R234 | R234C | -1.4112804 | R234 | R234L | -1.0614153 | D237 | D237G | -0.92723645 | G260 | D261N | -0.71786711 |
| (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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for AGA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268225 | Aspartylglucosaminuria | 38 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of AGA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of AGA |
| Multiple alignments for P20933 in multiple species |
| LBS | AA sequence | # species | Species | D237 | PGRVGDSPIPG | 3 | Caenorhabditis elegans, Mus musculus, Rattus norvegicus | D237 | HGRVGDSPIPG | 1 | Homo sapiens | D237 | PGRVGDGPIVG | 1 | Arabidopsis thaliana | G226 | GTSTNGIKFKI | 2 | Homo sapiens, Mus musculus | G226 | GTSTNGATYKI | 1 | Arabidopsis thaliana | G226 | GTSSNGARFKI | 1 | Caenorhabditis elegans | G226 | GTSTNGLKFKI | 1 | Rattus norvegicus | G258 | AAAATGDGDTL | 2 | Mus musculus, Rattus norvegicus | G258 | AAAATGNGDIL | 1 | Homo sapiens | G258 | GCGATGDGDTM | 1 | Arabidopsis thaliana | G258 | GAAATGDGDVM | 1 | Caenorhabditis elegans | G260 | AATGDGDTLLR | 2 | Mus musculus, Rattus norvegicus | G260 | AATGNGDILMR | 1 | Homo sapiens | G260 | GATGDGDTMMR | 1 | Arabidopsis thaliana | G260 | AATGDGDVMMR | 1 | Caenorhabditis elegans | I227 | TSTNGIKFKIH | 1 | Homo sapiens | I227 | TSTNGATYKIP | 1 | Arabidopsis thaliana | I227 | TSSNGARFKIP | 1 | Caenorhabditis elegans | I227 | TSTNGIKFKIP | 1 | Mus musculus | I227 | TSTNGLKFKIP | 1 | Rattus norvegicus | R234 | FKIPGRVGDSP | 3 | Caenorhabditis elegans, Mus musculus, Rattus norvegicus | R234 | FKIHGRVGDSP | 1 | Homo sapiens | R234 | YKIPGRVGDGP | 1 | Arabidopsis thaliana | S238 | GRVGDSPIPGA | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus | S238 | GRVGDGPIVGS | 1 | Arabidopsis thaliana | T206 | IHSHDTIGMVV | 2 | Mus musculus, Rattus norvegicus | T206 | DRGHDTIGMVV | 1 | Homo sapiens | T206 | PHNHDTISMAV | 1 | Arabidopsis thaliana | T206 | KTNHDTIGMVV | 1 | Caenorhabditis elegans | T257 | GAAAATGDGDT | 2 | Mus musculus, Rattus norvegicus | T257 | GAAAATGNGDI | 1 | Homo sapiens | T257 | GGCGATGDGDT | 1 | Arabidopsis thaliana | T257 | GGAAATGDGDV | 1 | Caenorhabditis elegans |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |