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 ARSA
Gene summary
Basic gene Info.Gene symbolARSA
Gene namearylsulfatase A
CytomapUCSC genome browser: 22q13.33
Type of geneprotein-coding
Modification date20141219
dbXrefs MIM : 607574
Ensembl : ENSG00000100299
HPRD : 09617
Vega : OTTHUMG00000150180
ProteinUniProt: P15289
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ARSA
BioGPS: 410
PathwayNCI Pathway Interaction Database: ARSA
Pathway Commons: ARSA
ContextiHOP: ARSA
ligand binding site mutation search in PubMed: ARSA
UCL Cancer Institute: ARSA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for ARSA
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

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 ARSA
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 ARSA from PDB

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


Phenotype information for ARSA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023522Leukodystrophy, Metachromatic162AlteredExpression, Biomarker, GeneticVariation
umls:C0751278Metachromatic leukodystrophy, congenital type14Biomarker, GeneticVariation
umls:C0751279Metachromatic leukodystrophy, adult type4Biomarker, GeneticVariation
umls:C0751276Metachromatic leukodystrophy, juvenile type4Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases2Biomarker

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

Pharmacological information for ARSA
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01800N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)BenzenaminiumSmall molecule
ExperimentalDB038212-Amino-3-Hydroxy-3-Phosphonooxy-Propionic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ARSA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ARSA
Multiple alignments for P15289 in multiple species
LBSAA sequence# speciesSpecies
C69VPVSLCTPSRA3Homo sapiens, Mus musculus, Bos taurus
D281VIFTADNGPET1Homo sapiens
D281VIFTADNGPEL1Mus musculus
D281VFFTADNGPET1Bos taurus
D29LLIFADDLGYG2Mus musculus, Bos taurus
D29VLIFADDLGYG1Homo sapiens
D30LIFADDLGYGD3Homo sapiens, Mus musculus, Bos taurus
E285ADNGPETMRMS2Homo sapiens, Bos taurus
E285ADNGPELMRMS1Mus musculus
H125MAGKWHLGVGP2Homo sapiens, Mus musculus
H125IAGKWHLGVGP1Bos taurus
H229ASHHTHYPQFS3Homo sapiens, Mus musculus, Bos taurus
H405TQGSAHSDTTA1Homo sapiens
H405TQGSAHSDTTS1Mus musculus
H405TQGSVHSDTTA1Bos taurus
K123TGMAGKWHLGV2Homo sapiens, Mus musculus
K123TGIAGKWHLGV1Bos taurus
K302LLRCGKGTTFE2Mus musculus, Bos taurus
K302LLRCGKGTTYE1Homo sapiens
M287NGPETMRMSRG1Homo sapiens
M287NGPELMRMSNG1Mus musculus
M287NGPETMRMSHG1Bos taurus
N282IFTADNGPETM1Homo sapiens
N282IFTADNGPELM1Mus musculus
N282FFTADNGPETM1Bos taurus
R288GPETMRMSRGG1Homo sapiens
R288GPELMRMSNGG1Mus musculus
R288GPETMRMSHGG1Bos taurus
S150LGIPYSHDQGP3Homo sapiens, Mus musculus, Bos taurus
V91GMYPGVLVPSS1Homo sapiens
V91GMYPGVLGPSS1Mus musculus

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