mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 ATXN7
Gene summary
Basic gene Info.Gene symbolATXN7
Gene nameataxin 7
SynonymsADCAII|OPCA3|SCA7
CytomapUCSC genome browser: 3p21.1-p12
Type of geneprotein-coding
RefGenesNM_000333.3,
NM_001128149.2,NM_001177387.1,
Descriptionataxin-7spinocerebellar ataxia type 7 protein
Modification date20141219
dbXrefs MIM : 607640
HGNC : HGNC
Ensembl : ENSG00000163635
HPRD : 06365
Vega : OTTHUMG00000158763
ProteinUniProt: O15265
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ATXN7
BioGPS: 6314
PathwayNCI Pathway Interaction Database: ATXN7
KEGG: ATXN7
REACTOME: ATXN7
Pathway Commons: ATXN7
ContextiHOP: ATXN7
ligand binding site mutation search in PubMed: ATXN7
UCL Cancer Institute: ATXN7
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
GO:0016578histone deubiquitination18206972


Top
Ligand binding site mutations for ATXN7

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V349I350TUCEC1
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.


Top
Protein structure related information for ATXN7
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
V349I350T-0.81125972
(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 ATXN7 from PDB

Top
Differential gene expression and gene-gene network for ATXN7
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 ATXN7 and the right PPI network was created from samples without mutations in the LBS of ATXN7. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for ATXN7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0752125spinocerebellar ataxia-740Biomarker, GeneticVariation
umls:C0087012Spinocerebellar Ataxias16AlteredExpression, Biomarker, GeneticVariation
umls:C0311375Arsenic Poisoning1Biomarker
umls:C0037274Skin Diseases1Biomarker

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

Top
Pharmacological information for ATXN7
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ATXN7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2kkrAV349


Top
Conservation information for LBS of ATXN7
Multiple alignments for O15265 in multiple species
LBSAA sequence# speciesSpecies


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas