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 FOXO1
Gene summary
Basic gene Info.Gene symbolFOXO1
Gene nameforkhead box O1
SynonymsFKH1|FKHR|FOXO1A
CytomapUCSC genome browser: 13q14.1
Type of geneprotein-coding
RefGenesNM_002015.3,
Descriptionforkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcoma
Modification date20141222
dbXrefs MIM : 136533
HGNC : HGNC
Ensembl : ENSG00000150907
HPRD : 00645
Vega : OTTHUMG00000016775
ProteinUniProt: Q12778
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FOXO1
BioGPS: 2308
PathwayNCI Pathway Interaction Database: FOXO1
KEGG: FOXO1
REACTOME: FOXO1
Pathway Commons: FOXO1
ContextiHOP: FOXO1
ligand binding site mutation search in PubMed: FOXO1
UCL Cancer Institute: FOXO1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0009267cellular response to starvation20543840
GO:0032873negative regulation of stress-activated MAPK cascade19696738
GO:0043066negative regulation of apoptotic process10871843
GO:0045893positive regulation of transcription, DNA-templated10871843
GO:0045944positive regulation of transcription from RNA polymerase II promoter10871843
GO:0071455cellular response to hyperoxia20543840


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Ligand binding site mutations for FOXO1
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
R225R225HUCEC2
R214R214HCOAD1
Y187E188KCOAD1
W237W237CLUAD1
R225R225SSTAD1
R214R214CUCEC1
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 FOXO1 from My Cancer Genome.
Forkhead box O1 (FOXO1) is a gene that encodes a transcription factor protein that functions in insulin signaling and the regulation of metabolic homeostasis in the presence of oxidative stress. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer. Modified: July 1, 2015

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Protein structure related information for FOXO1
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
R214R214H-1.6865718
Y187E188K-1.4345474
R225R225H-1.4093947
R214R214C-1.3858994
R225R225S-1.3510688
W237W237C-0.97473397
(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 FOXO1 from PDB
PDB IDPDB titlePDB structure
3CO6Crystal Structure of FoxO1 DBD Bound to DBE1 DNA

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Differential gene expression and gene-gene network for FOXO1
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 FOXO1 and the right PPI network was created from samples without mutations in the LBS of FOXO1. 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 FOXO1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0206655Rhabdomyosarcoma, Alveolar104Biomarker, GeneticVariation
umls:C0023467Leukemia, Myeloid, Acute3Biomarker, GeneticVariation, PostTranslationalModification
umls:C0022578Keratoconus2Biomarker, GeneticVariation

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

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Pharmacological information for FOXO1
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 FOXO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3co7CR214 R225 W237
NUCNucleic Acids3co7FR214 R225 W237
NUCNucleic Acids3coaFR214 R225 W237
NUCNucleic Acids3co6CY187 R214 R225 W237
NUCNucleic Acids3coaCY187 R214 R225 W237
NUCNucleic Acids4lg0AY187 R214 R225 W237


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Conservation information for LBS of FOXO1
Multiple alignments for Q12778 in multiple species
LBSAA sequence# speciesSpecies
F223SLHSKFIRVQN3Homo sapiens, Mus musculus, Rattus norvegicus
F223SLHSKFVRVQN1Xenopus tropicalis
F223SLHSRFVRVQN1Danio rerio
F223SLHSRFIRVQN1Danio rerio
G232QNEGTGKSSWW6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
H215KNSIRHNLSLH6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
H220HNLSLHSKFIR3Homo sapiens, Mus musculus, Rattus norvegicus
H220HNLSLHSKFVR1Xenopus tropicalis
H220HNLSLHSRFVR1Danio rerio
H220HNLSLHSRFIR1Danio rerio
L183EKRLTLSQIYE4Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio
L183EKRLTLSQIYD2Xenopus tropicalis, Danio rerio
L217SIRHNLSLHSK4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
L217SIRHNLSLHSR2Danio rerio, Danio rerio
N158SSSRRNAWGNL4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
N158SSSRRNAWGNM2Danio rerio, Danio rerio
N204DKGDSNSSAGW6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
N211SAGWKNSIRHN6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
R157SSSSRRNAWGN4Homo sapiens, Xenopus tropicalis, Danio rerio, Danio rerio
R157TSSSRRNAWGN2Mus musculus, Rattus norvegicus
R214WKNSIRHNLSL6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
R225HSKFIRVQNEG3Homo sapiens, Mus musculus, Rattus norvegicus
R225HSKFVRVQNEG1Xenopus tropicalis
R225HSRFVRVQNEG1Danio rerio
R225HSRFIRVQNEG1Danio rerio
S164AWGNLSYADLI4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S164AWGNMSYADLI2Danio rerio, Danio rerio
S184KRLTLSQIYEW4Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio
S184KRLTLSQIYDW2Xenopus tropicalis, Danio rerio
S205KGDSNSSAGWK6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
S212AGWKNSIRHNL6Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
S218IRHNLSLHSKF4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
S218IRHNLSLHSRF2Danio rerio, Danio rerio
S234EGTGKSSWWML5Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
S234EGTGKSSWWIL1Xenopus tropicalis
S235GTGKSSWWMLN5Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
S235GTGKSSWWILN1Xenopus tropicalis
W160SRRNAWGNLSY4Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus
W160SRRNAWGNMSY2Danio rerio, Danio rerio
W237GKSSWWMLNPE5Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio
W237GKSSWWILNPE1Xenopus tropicalis
Y165WGNLSYADLIT3Homo sapiens, Mus musculus, Rattus norvegicus
Y165WGNMSYADLIT2Danio rerio, Danio rerio
Y165WGNLSYADLIS1Xenopus tropicalis
Y187TLSQIYEWMVK4Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio
Y187TLSQIYDWMVK2Xenopus tropicalis, Danio rerio


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