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 ASPH
Gene summary
Basic gene Info.Gene symbolASPH
Gene nameaspartate beta-hydroxylase
CytomapUCSC genome browser: 8q12.1
Type of geneprotein-coding
DescriptionA beta H-J-JASP beta-hydroxylaseaspartyl/asparaginyl beta-hydroxylaseaspartyl/asparaginyl-beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase
Modification date20141207
dbXrefs MIM : 600582
Ensembl : ENSG00000198363
HPRD : 08996
Vega : OTTHUMG00000164375
ProteinUniProt: Q12797
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASPH
BioGPS: 444
PathwayNCI Pathway Interaction Database: ASPH
Pathway Commons: ASPH
ContextiHOP: ASPH
ligand binding site mutation search in PubMed: ASPH
UCL Cancer Institute: ASPH
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0010524positive regulation of calcium ion transport into cytosol21062895
GO:0031585regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity21062895
GO:0032237activation of store-operated calcium channel activity22586105
GO:0033198response to ATP21062895
GO:0045862positive regulation of proteolysis18387192
GO:0070588calcium ion transmembrane transport21062895
GO:0071277cellular response to calcium ion21062895
GO:0090316positive regulation of intracellular protein transport22586105
GO:0097202activation of cysteine-type endopeptidase activity18387192

Ligand binding site mutations for ASPH
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 ASPH
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 ASPH from PDB

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


Phenotype information for ASPH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1832167Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism1GeneticVariation

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

Pharmacological information for ASPH
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
Approved|nutraceuticalDB00139Succinic acidSmall molecule

Gene-centered ligand-gene interaction network

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

Conservation information for LBS of ASPH
Multiple alignments for Q12797 in multiple species
LBSAA sequence# speciesSpecies
H679THVWPHTGPTN3Homo sapiens, Bos taurus, Mus musculus
H725DDSFEHEVWQD3Homo sapiens, Bos taurus, Mus musculus

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