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 ATXN1
Gene summary
Basic gene Info.Gene symbolATXN1
Gene nameataxin 1
SynonymsATX1|D6S504E|SCA1
CytomapUCSC genome browser: 6p23
Type of geneprotein-coding
RefGenesNM_000332.3,
NM_001128164.1,
Descriptionalternative ataxin1ataxin-1spinocerebellar ataxia type 1 protein
Modification date20141219
dbXrefs MIM : 601556
HGNC : HGNC
Ensembl : ENSG00000124788
HPRD : 03333
Vega : OTTHUMG00000014303
ProteinUniProt: P54253
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ATXN1
BioGPS: 6310
PathwayNCI Pathway Interaction Database: ATXN1
KEGG: ATXN1
REACTOME: ATXN1
Pathway Commons: ATXN1
ContextiHOP: ATXN1
ligand binding site mutation search in PubMed: ATXN1
UCL Cancer Institute: ATXN1
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:0045892negative regulation of transcription, DNA-templated15016912
GO:0051168nuclear export15615787


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Ligand binding site mutations for ATXN1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S186M184VCOAD1
Q639Q639RLUAD1
V633E635GSKCM1
W657S659PSTAD1
L12P13TSTAD1
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 ATXN1
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
S186M184V0.004980225
L12P13T-1.1618685
V633E635G-0.8362226
Q639Q639R-0.83407719
W657S659P-0.54559116
(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 ATXN1 from PDB

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Differential gene expression and gene-gene network for ATXN1
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 ATXN1 and the right PPI network was created from samples without mutations in the LBS of ATXN1. 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 ATXN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0752120SPINOCEREBELLAR ATAXIA 175Biomarker, GeneticVariation
umls:C0087012Spinocerebellar Ataxias53AlteredExpression, Biomarker, GeneticVariation

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

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Pharmacological information for ATXN1
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 ATXN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ATXN1
Multiple alignments for P54253 in multiple species
LBSAA sequence# speciesSpecies
A583SIIQLANGELK3Homo sapiens, Mus musculus, Rattus norvegicus
A602DFIQSAEISND3Homo sapiens, Mus musculus, Rattus norvegicus
A638VGEHRAQVSVE3Homo sapiens, Mus musculus, Rattus norvegicus
D611NDLKIDSSTVE3Homo sapiens, Mus musculus, Rattus norvegicus
F574TLPPYFMKGSI3Homo sapiens, Mus musculus, Rattus norvegicus
F598LKTEDFIQSAE3Homo sapiens, Mus musculus, Rattus norvegicus
F631VAVIQFAVGEH3Homo sapiens, Mus musculus, Rattus norvegicus
F650LVEYPFFVFGQ3Homo sapiens, Mus musculus, Rattus norvegicus
F651VEYPFFVFGQG3Homo sapiens, Mus musculus, Rattus norvegicus
I579FMKGSIIQLAN3Homo sapiens, Mus musculus, Rattus norvegicus
I580MKGSIIQLANG3Homo sapiens, Mus musculus, Rattus norvegicus
I683VGDVCISLTLK3Homo sapiens, Mus musculus, Rattus norvegicus
L12RSNECLPPKKR3Homo sapiens, Mus musculus, Rattus norvegicus
L582GSIIQLANGEL3Homo sapiens, Mus musculus, Rattus norvegicus
L587LANGELKKVED3Homo sapiens, Mus musculus, Rattus norvegicus
L593KKVEDLKTEDF3Homo sapiens, Mus musculus, Rattus norvegicus
L608EISNDLKIDSS3Homo sapiens, Mus musculus, Rattus norvegicus
L685DVCISLTLKNL3Homo sapiens, Mus musculus, Rattus norvegicus
P572SPTLPPYFMKG2Mus musculus, Rattus norvegicus
P572PPTLPPYFMKG1Homo sapiens
P649VLVEYPFFVFG3Homo sapiens, Mus musculus, Rattus norvegicus
Q581KGSIIQLANGE3Homo sapiens, Mus musculus, Rattus norvegicus
Q639GEHRAQVSVEV3Homo sapiens, Mus musculus, Rattus norvegicus
S186LANMGSLSQAP2Mus musculus, Rattus norvegicus
S186LANMGSLSQTP1Homo sapiens
S601EDFIQSAEISN3Homo sapiens, Mus musculus, Rattus norvegicus
S613LKIDSSTVERI3Homo sapiens, Mus musculus, Rattus norvegicus
S684GDVCISLTLKN3Homo sapiens, Mus musculus, Rattus norvegicus
T686VCISLTLKNLK3Homo sapiens, Mus musculus, Rattus norvegicus
V590GELKKVEDLKT3Homo sapiens, Mus musculus, Rattus norvegicus
V633VIQFAVGEHRA3Homo sapiens, Mus musculus, Rattus norvegicus
V640EHRAQVSVEVL3Homo sapiens, Mus musculus, Rattus norvegicus
V642RAQVSVEVLVE3Homo sapiens, Mus musculus, Rattus norvegicus
W657VFGQGWSSCCP3Homo sapiens, Mus musculus, Rattus norvegicus
Y573PTLPPYFMKGS3Homo sapiens, Mus musculus, Rattus norvegicus
Y648EVLVEYPFFVF3Homo sapiens, Mus musculus, Rattus norvegicus


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