mutated Ligand Binding Site gene DataBase





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 AXIN1
Gene summary
Basic gene Info.Gene symbolAXIN1
Gene nameaxin 1
CytomapUCSC genome browser: 16p13.3
Type of geneprotein-coding
Descriptionaxin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49
Modification date20141207
dbXrefs MIM : 603816
Ensembl : ENSG00000103126
HPRD : 04819
Vega : OTTHUMG00000064930
ProteinUniProt: O15169
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AXIN1
BioGPS: 8312
PathwayNCI Pathway Interaction Database: AXIN1
Pathway Commons: AXIN1
ContextiHOP: AXIN1
ligand binding site mutation search in PubMed: AXIN1
UCL Cancer Institute: AXIN1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001934positive regulation of protein phosphorylation9601641
GO:0030178negative regulation of Wnt signaling pathway10644691
GO:0032147activation of protein kinase activity9601641
GO:0043623cellular protein complex assembly16601693
GO:0045732positive regulation of protein catabolic process9601641

Ligand binding site mutations for AXIN1
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.

Clinical information for AXIN1 from My Cancer Genome.
Axin 1 (AXIN1) is a gene that encodes a cytoplasmic protein that functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway. The protein also functions in the regulation of apoptotic induction. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as biliary tract cancer, liver cancer, and salivary gland cancer. Related Pathways: β-catenin/Wnt signaling. Modified: December 4, 2015

Protein structure related information for AXIN1
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 AXIN1 from PDB
PDB IDPDB titlePDB structure

Differential gene expression and gene-gene network for AXIN1
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 AXIN1 and the right PPI network was created from samples without mutations in the LBS of AXIN1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for AXIN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular8Biomarker, GeneticVariation

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

Pharmacological information for AXIN1
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
ExperimentalDB044471,4-DithiothreitolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AXIN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of AXIN1
Multiple alignments for O15169 in multiple species
LBSAA sequence# speciesSpecies
A120LDFWFACSGFR4Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus
A120LDFWFACTGFR1Homo sapiens
A143LKLARAIYRKY3Homo sapiens, Mus musculus, Rattus norvegicus
A143LKLAKAIYKKY2Danio rerio, Gallus gallus
D116CADLLDFWFAC4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D116CADMLDFWFAC1Danio rerio
D94LHSLLDDQDGI5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus
F119LLDFWFACSGF3Gallus gallus, Mus musculus, Rattus norvegicus
F119LLDFWFACTGF1Homo sapiens
F119MLDFWFACSGF1Danio rerio
F124FACSGFRKLEP3Gallus gallus, Mus musculus, Rattus norvegicus
F124FACTGFRKLEP1Homo sapiens
F124FACSGFRKQEA1Danio rerio
G123WFACSGFRKLE3Gallus gallus, Mus musculus, Rattus norvegicus
G123WFACTGFRKLE1Homo sapiens
G123WFACSGFRKQE1Danio rerio
I144KLARAIYRKYI3Homo sapiens, Mus musculus, Rattus norvegicus
I144KLAKAIYKKYI2Danio rerio, Gallus gallus
I99DDQDGISLFRT3Homo sapiens, Mus musculus, Rattus norvegicus
I99DDQDGIHLFRT1Danio rerio
I99DDQDGINLFRT1Gallus gallus
K126CSGFRKLEPCD2Mus musculus, Rattus norvegicus
K126CTGFRKLEPCD1Homo sapiens
K126CSGFRKQEAND1Danio rerio
K126CSGFRKLEPCV1Gallus gallus
K139EEKRLKLARAI3Homo sapiens, Mus musculus, Rattus norvegicus
K139-EKMLKLAKAI1Danio rerio
K139EEKRLKLAKAI1Gallus gallus
K147KAIYKKYILDN2Danio rerio, Gallus gallus
K147RAIYRKYILDS2Mus musculus, Rattus norvegicus
K147RAIYRKYILDN1Homo sapiens
L140EKRLKLARAIY3Homo sapiens, Mus musculus, Rattus norvegicus
L140EKMLKLAKAIY1Danio rerio
L140EKRLKLAKAIY1Gallus gallus
L93SLHSLLDDQDG5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus
Q96SLLDDQDGISL3Homo sapiens, Mus musculus, Rattus norvegicus
Q96SLLDDQDGIHL1Danio rerio
Q96SLLDDQDGINL1Gallus gallus
R142RLKLARAIYRK3Homo sapiens, Mus musculus, Rattus norvegicus
R142MLKLAKAIYKK1Danio rerio
R142RLKLAKAIYKK1Gallus gallus
R146ARAIYRKYILD3Homo sapiens, Mus musculus, Rattus norvegicus
R146AKAIYKKYILD2Danio rerio, Gallus gallus
T122FWFACSGFRKL3Gallus gallus, Mus musculus, Rattus norvegicus
T122FWFACTGFRKL1Homo sapiens
T122FWFACSGFRKQ1Danio rerio

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