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mutLBSgeneDB |
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| Gene summary for ASPA |
 Gene summary |
| Basic gene Info. | Gene symbol | ASPA |
| Gene name | aspartoacylase | |
| Synonyms | ACY2|ASP | |
| Cytomap | UCSC genome browser: 17p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000049.2, NM_001128085.1, | |
| Description | ACY-2aminoacylase 2aminoacylase-2 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 608034 | |
| HGNC : HGNC | ||
| HPRD : 02033 | ||
| Protein | UniProt: P45381 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ASPA | |
| BioGPS: 443 | ||
| Pathway | NCI Pathway Interaction Database: ASPA | |
| KEGG: ASPA | ||
| REACTOME: ASPA | ||
| Pathway Commons: ASPA | ||
| Context | iHOP: ASPA | |
| ligand binding site mutation search in PubMed: ASPA | ||
| UCL Cancer Institute: ASPA | ||
| 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 ASPA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y164 | A165V | UCEC | 2 | H21 | H21D | BLCA | 1 | H116 | L115I | COAD | 1 | I127 | E129D | COAD | 1 | R168 | I170T | LUAD | 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 ASPA |
| 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 | R168 | I170T | -1.4052128 | H116 | L115I | -1.3266658 | I127 | E129D | -1.1295269 | Y164 | A165V | -0.69621726 | H21 | H21D | -0.070382835 |
| (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 ASPA from PDB |
| PDB ID | PDB title | PDB structure | 2I3C | Crystal Structure of an Aspartoacylase from Homo Sapiens |  |
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| Differential gene expression and gene-gene network for ASPA |
| 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 ASPA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0206307 | Canavan Disease | 50 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ASPA |
| 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 |
| Approved|nutraceutical | DB00128 | L-Aspartic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ASPA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2i3c | A | H21 H116 | ZN | ZINC(2+) | 2i3c | B | H21 H116 | ZN | ZINC(2+) | 2o4h | A | H21 H116 | ZN | ZINC(2+) | 2o4h | B | H21 H116 | ZN | ZINC(2+) | 2o53 | A | H21 H116 | ZN | ZINC(2+) | 2o53 | B | H21 H116 | ZN | ZINC(2+) | 2q51 | A | H21 H116 | ZN | ZINC(2+) | 2q51 | B | H21 H116 | ZN | ZINC(2+) | 4mri | A | H21 H116 | ZN | ZINC(2+) | 4mri | B | H21 H116 | ZN | ZINC(2+) | 4mxu | A | H21 H116 | ZN | ZINC(2+) | 4mxu | B | H21 H116 | ZN | ZINC(2+) | 4nfr | A | H21 H116 | ZN | ZINC(2+) | 4nfr | B | H21 H116 | ZN | ZINC(2+) | 4tnu | A | H21 H116 | ZN | ZINC(2+) | 4tnu | B | H21 H116 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 2o4h | A | H21 H116 I127 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 2o4h | B | H21 H116 I127 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4mri | B | H21 H116 I127 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4tnu | A | H21 H116 I127 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4nfr | A | H21 H116 Y164 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4mri | A | H21 H116 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4mxu | A | H21 H116 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4mxu | B | H21 H116 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4nfr | B | H21 H116 Y164 R168 | AS9 | N-PHOSPHONOMETHYL-L-ASPARTIC ACID | 4tnu | B | H21 H116 Y164 R168 |
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| Conservation information for LBS of ASPA |
| Multiple alignments for P45381 in multiple species |
| LBS | AA sequence | # species | Species | E178 | YPVGIEVGPQP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E178 | HPVGLEVGPQP | 1 | Danio rerio | E178 | HPIGVEVGPQP | 1 | Xenopus tropicalis | E24 | GTHGNELTGVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E24 | GTHGNEMSGIV | 1 | Danio rerio | E24 | GTHGNELSGVF | 1 | Xenopus tropicalis | E285 | PVFVNEAAYYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E285 | PTFINEAAYYE | 2 | Danio rerio, Xenopus tropicalis | F282 | TVYPVFVNEAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F282 | TVYPTFINEAA | 1 | Danio rerio | F282 | IVYPTFINEAA | 1 | Xenopus tropicalis | H116 | IIFDLHNTTSN | 1 | Homo sapiens | H116 | VIFDLHNTTSN | 1 | Danio rerio | H116 | VILDLHNTTSH | 1 | Xenopus tropicalis | H116 | LVFDLHNTTSN | 1 | Mus musculus | H116 | VVFDLHNTTSN | 1 | Rattus norvegicus | H21 | IFGGTHGNELT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H21 | IFGGTHGNEMS | 1 | Danio rerio | H21 | IFGGTHGNELS | 1 | Xenopus tropicalis | I127 | MGCTLILEDSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I127 | MGSTLILESST | 1 | Danio rerio | I127 | MGATLILEDSK | 1 | Xenopus tropicalis | N117 | IFDLHNTTSNM | 2 | Homo sapiens, Danio rerio | N117 | VFDLHNTTSNM | 2 | Mus musculus, Rattus norvegicus | N117 | ILDLHNTTSHM | 1 | Xenopus tropicalis | N70 | IDCDLNRVFDL | 2 | Mus musculus, Rattus norvegicus | N70 | IDCDLNRIFDL | 1 | Homo sapiens | N70 | IDTDLNRAFTP | 1 | Danio rerio | N70 | VDTDLNRVFDS | 1 | Xenopus tropicalis | R168 | KYATTRSIAKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R168 | KYSTTRSVAKH | 1 | Danio rerio | R168 | KYATTRSIAKH | 1 | Xenopus tropicalis | R63 | VEKCTRYIDCD | 2 | Mus musculus, Rattus norvegicus | R63 | VKKCTRYIDCD | 1 | Homo sapiens | R63 | VEKCTRYIDTD | 1 | Danio rerio | R63 | VEKCVRYVDTD | 1 | Xenopus tropicalis | R71 | DCDLNRVFDLE | 2 | Mus musculus, Rattus norvegicus | R71 | DCDLNRIFDLE | 1 | Homo sapiens | R71 | DTDLNRAFTPE | 1 | Danio rerio | R71 | DTDLNRVFDSE | 1 | Xenopus tropicalis | Y164 | HPSLKYATTRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y164 | HPQLKYSTTRS | 1 | Danio rerio | Y164 | HPRLKYATTRS | 1 | Xenopus tropicalis | Y288 | VNEAAYYEKKE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y288 | INEAAYYEKQQ | 1 | Danio rerio | Y288 | INEAAYYEKNQ | 1 | Xenopus tropicalis |
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