mutLBSgeneDB

mutLBSgeneDB
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 ASPA
Gene summary
Basic gene Info.Gene symbolASPA
Gene nameaspartoacylase
SynonymsACY2|ASP
CytomapUCSC genome browser: 17p13.3
Type of geneprotein-coding
RefGenesNM_000049.2,
NM_001128085.1,
DescriptionACY-2aminoacylase 2aminoacylase-2
Modification date20141219
dbXrefs MIM : 608034
HGNC : HGNC
HPRD : 02033
ProteinUniProt: P45381
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASPA
BioGPS: 443
PathwayNCI Pathway Interaction Database: ASPA
KEGG: ASPA
REACTOME: ASPA
Pathway Commons: ASPA
ContextiHOP: ASPA
ligand binding site mutation search in PubMed: ASPA
UCL Cancer Institute: ASPA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ASPA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y164A165VUCEC2
H21H21DBLCA1
H116L115ICOAD1
I127E129DCOAD1
R168I170TLUAD1
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

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
R168I170T-1.4052128
H116L115I-1.3266658
I127E129D-1.1295269
Y164A165V-0.69621726
H21H21D-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 IDPDB titlePDB structure
2I3CCrystal 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)
* Left PPI network was created from samples with mutations in the LBS of ASPA and the right PPI network was created from samples without mutations in the LBS of ASPA. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ASPA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0206307Canavan Disease50Biomarker, GeneticVariation

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

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00128L-Aspartic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ASPA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2i3cAH21 H116
ZNZINC(2+)2i3cBH21 H116
ZNZINC(2+)2o4hAH21 H116
ZNZINC(2+)2o4hBH21 H116
ZNZINC(2+)2o53AH21 H116
ZNZINC(2+)2o53BH21 H116
ZNZINC(2+)2q51AH21 H116
ZNZINC(2+)2q51BH21 H116
ZNZINC(2+)4mriAH21 H116
ZNZINC(2+)4mriBH21 H116
ZNZINC(2+)4mxuAH21 H116
ZNZINC(2+)4mxuBH21 H116
ZNZINC(2+)4nfrAH21 H116
ZNZINC(2+)4nfrBH21 H116
ZNZINC(2+)4tnuAH21 H116
ZNZINC(2+)4tnuBH21 H116
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID2o4hAH21 H116 I127 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID2o4hBH21 H116 I127 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4mriBH21 H116 I127 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4tnuAH21 H116 I127 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4nfrAH21 H116 Y164
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4mriAH21 H116 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4mxuAH21 H116 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4mxuBH21 H116 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4nfrBH21 H116 Y164 R168
AS9N-PHOSPHONOMETHYL-L-ASPARTIC ACID4tnuBH21 H116 Y164 R168


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Conservation information for LBS of ASPA
Multiple alignments for P45381 in multiple species
LBSAA sequence# speciesSpecies
E178YPVGIEVGPQP3Homo sapiens, Mus musculus, Rattus norvegicus
E178HPVGLEVGPQP1Danio rerio
E178HPIGVEVGPQP1Xenopus tropicalis
E24GTHGNELTGVF3Homo sapiens, Mus musculus, Rattus norvegicus
E24GTHGNEMSGIV1Danio rerio
E24GTHGNELSGVF1Xenopus tropicalis
E285PVFVNEAAYYE3Homo sapiens, Mus musculus, Rattus norvegicus
E285PTFINEAAYYE2Danio rerio, Xenopus tropicalis
F282TVYPVFVNEAA3Homo sapiens, Mus musculus, Rattus norvegicus
F282TVYPTFINEAA1Danio rerio
F282IVYPTFINEAA1Xenopus tropicalis
H116IIFDLHNTTSN1Homo sapiens
H116VIFDLHNTTSN1Danio rerio
H116VILDLHNTTSH1Xenopus tropicalis
H116LVFDLHNTTSN1Mus musculus
H116VVFDLHNTTSN1Rattus norvegicus
H21IFGGTHGNELT3Homo sapiens, Mus musculus, Rattus norvegicus
H21IFGGTHGNEMS1Danio rerio
H21IFGGTHGNELS1Xenopus tropicalis
I127MGCTLILEDSR3Homo sapiens, Mus musculus, Rattus norvegicus
I127MGSTLILESST1Danio rerio
I127MGATLILEDSK1Xenopus tropicalis
N117IFDLHNTTSNM2Homo sapiens, Danio rerio
N117VFDLHNTTSNM2Mus musculus, Rattus norvegicus
N117ILDLHNTTSHM1Xenopus tropicalis
N70IDCDLNRVFDL2Mus musculus, Rattus norvegicus
N70IDCDLNRIFDL1Homo sapiens
N70IDTDLNRAFTP1Danio rerio
N70VDTDLNRVFDS1Xenopus tropicalis
R168KYATTRSIAKY3Homo sapiens, Mus musculus, Rattus norvegicus
R168KYSTTRSVAKH1Danio rerio
R168KYATTRSIAKH1Xenopus tropicalis
R63VEKCTRYIDCD2Mus musculus, Rattus norvegicus
R63VKKCTRYIDCD1Homo sapiens
R63VEKCTRYIDTD1Danio rerio
R63VEKCVRYVDTD1Xenopus tropicalis
R71DCDLNRVFDLE2Mus musculus, Rattus norvegicus
R71DCDLNRIFDLE1Homo sapiens
R71DTDLNRAFTPE1Danio rerio
R71DTDLNRVFDSE1Xenopus tropicalis
Y164HPSLKYATTRS3Homo sapiens, Mus musculus, Rattus norvegicus
Y164HPQLKYSTTRS1Danio rerio
Y164HPRLKYATTRS1Xenopus tropicalis
Y288VNEAAYYEKKE3Homo sapiens, Mus musculus, Rattus norvegicus
Y288INEAAYYEKQQ1Danio rerio
Y288INEAAYYEKNQ1Xenopus tropicalis


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