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mutLBSgeneDB |
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| Gene summary for ARSA |
 Gene summary |
| Basic gene Info. | Gene symbol | ARSA |
| Gene name | arylsulfatase A | |
| Synonyms | MLD | |
| Cytomap | UCSC genome browser: 22q13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000487.5, NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2, | |
| Description | ASAcerebroside-sulfatase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 607574 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100299 | ||
| HPRD : 09617 | ||
| Vega : OTTHUMG00000150180 | ||
| Protein | UniProt: P15289 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARSA | |
| BioGPS: 410 | ||
| Pathway | NCI Pathway Interaction Database: ARSA | |
| KEGG: ARSA | ||
| REACTOME: ARSA | ||
| Pathway Commons: ARSA | ||
| Context | iHOP: ARSA | |
| ligand binding site mutation search in PubMed: ARSA | ||
| UCL Cancer Institute: ARSA | ||
| 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 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K302 | R301Q | BRCA | 1 | C69 | L70R | UCEC | 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. |
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| 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 |
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| 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 |
| (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 |
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| 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) |
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| Phenotype information for ARSA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023522 | Leukodystrophy, Metachromatic | 162 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0751278 | Metachromatic leukodystrophy, congenital type | 14 | Biomarker, GeneticVariation |
| umls:C0751279 | Metachromatic leukodystrophy, adult type | 4 | Biomarker, GeneticVariation |
| umls:C0751276 | Metachromatic leukodystrophy, juvenile type | 4 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01800 | N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium | Small molecule |  |
| Experimental | DB03821 | 2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ARSA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 1e33 | P | C69 | CSN | 2-HYDROXY-5-NITROPHENYL HYDROGEN SULFATE | 1e2s | P | K302 |
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| Conservation information for LBS of ARSA |
| Multiple alignments for P15289 in multiple species |
| LBS | AA sequence | # species | Species | C69 | VPVSLCTPSRA | 3 | Homo sapiens, Mus musculus, Bos taurus | D281 | VIFTADNGPET | 1 | Homo sapiens | D281 | VIFTADNGPEL | 1 | Mus musculus | D281 | VFFTADNGPET | 1 | Bos taurus | D29 | LLIFADDLGYG | 2 | Mus musculus, Bos taurus | D29 | VLIFADDLGYG | 1 | Homo sapiens | D30 | LIFADDLGYGD | 3 | Homo sapiens, Mus musculus, Bos taurus | E285 | ADNGPETMRMS | 2 | Homo sapiens, Bos taurus | E285 | ADNGPELMRMS | 1 | Mus musculus | H125 | MAGKWHLGVGP | 2 | Homo sapiens, Mus musculus | H125 | IAGKWHLGVGP | 1 | Bos taurus | H229 | ASHHTHYPQFS | 3 | Homo sapiens, Mus musculus, Bos taurus | H405 | TQGSAHSDTTA | 1 | Homo sapiens | H405 | TQGSAHSDTTS | 1 | Mus musculus | H405 | TQGSVHSDTTA | 1 | Bos taurus | K123 | TGMAGKWHLGV | 2 | Homo sapiens, Mus musculus | K123 | TGIAGKWHLGV | 1 | Bos taurus | K302 | LLRCGKGTTFE | 2 | Mus musculus, Bos taurus | K302 | LLRCGKGTTYE | 1 | Homo sapiens | M287 | NGPETMRMSRG | 1 | Homo sapiens | M287 | NGPELMRMSNG | 1 | Mus musculus | M287 | NGPETMRMSHG | 1 | Bos taurus | N282 | IFTADNGPETM | 1 | Homo sapiens | N282 | IFTADNGPELM | 1 | Mus musculus | N282 | FFTADNGPETM | 1 | Bos taurus | R288 | GPETMRMSRGG | 1 | Homo sapiens | R288 | GPELMRMSNGG | 1 | Mus musculus | R288 | GPETMRMSHGG | 1 | Bos taurus | S150 | LGIPYSHDQGP | 3 | Homo sapiens, Mus musculus, Bos taurus | V91 | GMYPGVLVPSS | 1 | Homo sapiens | V91 | GMYPGVLGPSS | 1 | Mus musculus | V91 | GLYPGVLEPSS | 1 | Bos taurus |
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