mutLBSgeneDB |
Gene summary for FOXO1 |
Gene summary |
Basic gene Info. | Gene symbol | FOXO1 |
Gene name | forkhead box O1 | |
Synonyms | FKH1|FKHR|FOXO1A | |
Cytomap | UCSC genome browser: 13q14.1 | |
Type of gene | protein-coding | |
RefGenes | NM_002015.3, | |
Description | forkhead box protein O1forkhead box protein O1Aforkhead, Drosophila, homolog of, in rhabdomyosarcoma | |
Modification date | 20141222 | |
dbXrefs | MIM : 136533 | |
HGNC : HGNC | ||
Ensembl : ENSG00000150907 | ||
HPRD : 00645 | ||
Vega : OTTHUMG00000016775 | ||
Protein | UniProt: Q12778 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FOXO1 | |
BioGPS: 2308 | ||
Pathway | NCI Pathway Interaction Database: FOXO1 | |
KEGG: FOXO1 | ||
REACTOME: FOXO1 | ||
Pathway Commons: FOXO1 | ||
Context | iHOP: FOXO1 | |
ligand binding site mutation search in PubMed: FOXO1 | ||
UCL Cancer Institute: FOXO1 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0009267 | cellular response to starvation | 20543840 | GO:0032873 | negative regulation of stress-activated MAPK cascade | 19696738 | GO:0043066 | negative regulation of apoptotic process | 10871843 | GO:0045893 | positive regulation of transcription, DNA-templated | 10871843 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 10871843 | GO:0071455 | cellular response to hyperoxia | 20543840 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | R225 | R225H | UCEC | 2 | R214 | R214H | COAD | 1 | Y187 | E188K | COAD | 1 | W237 | W237C | LUAD | 1 | R225 | R225S | STAD | 1 | R214 | R214C | UCEC | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | R214 | R214H | -1.6865718 | Y187 | E188K | -1.4345474 | R225 | R225H | -1.4093947 | R214 | R214C | -1.3858994 | R225 | R225S | -1.3510688 | W237 | W237C | -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 ID | PDB title | PDB structure | 3CO6 | Crystal 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) |
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Phenotype information for FOXO1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0206655 | Rhabdomyosarcoma, Alveolar | 104 | Biomarker, GeneticVariation |
umls:C0023467 | Leukemia, Myeloid, Acute | 3 | Biomarker, GeneticVariation, PostTranslationalModification |
umls:C0022578 | Keratoconus | 2 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of FOXO1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3co7 | C | R214 R225 W237 | NUC | Nucleic Acids | 3co7 | F | R214 R225 W237 | NUC | Nucleic Acids | 3coa | F | R214 R225 W237 | NUC | Nucleic Acids | 3co6 | C | Y187 R214 R225 W237 | NUC | Nucleic Acids | 3coa | C | Y187 R214 R225 W237 | NUC | Nucleic Acids | 4lg0 | A | Y187 R214 R225 W237 |
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Conservation information for LBS of FOXO1 |
Multiple alignments for Q12778 in multiple species |
LBS | AA sequence | # species | Species | F223 | SLHSKFIRVQN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F223 | SLHSKFVRVQN | 1 | Xenopus tropicalis | F223 | SLHSRFVRVQN | 1 | Danio rerio | F223 | SLHSRFIRVQN | 1 | Danio rerio | G232 | QNEGTGKSSWW | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | H215 | KNSIRHNLSLH | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | H220 | HNLSLHSKFIR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H220 | HNLSLHSKFVR | 1 | Xenopus tropicalis | H220 | HNLSLHSRFVR | 1 | Danio rerio | H220 | HNLSLHSRFIR | 1 | Danio rerio | L183 | EKRLTLSQIYE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio | L183 | EKRLTLSQIYD | 2 | Xenopus tropicalis, Danio rerio | L217 | SIRHNLSLHSK | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | L217 | SIRHNLSLHSR | 2 | Danio rerio, Danio rerio | N158 | SSSRRNAWGNL | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | N158 | SSSRRNAWGNM | 2 | Danio rerio, Danio rerio | N204 | DKGDSNSSAGW | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | N211 | SAGWKNSIRHN | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | R157 | SSSSRRNAWGN | 4 | Homo sapiens, Xenopus tropicalis, Danio rerio, Danio rerio | R157 | TSSSRRNAWGN | 2 | Mus musculus, Rattus norvegicus | R214 | WKNSIRHNLSL | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | R225 | HSKFIRVQNEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R225 | HSKFVRVQNEG | 1 | Xenopus tropicalis | R225 | HSRFVRVQNEG | 1 | Danio rerio | R225 | HSRFIRVQNEG | 1 | Danio rerio | S164 | AWGNLSYADLI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S164 | AWGNMSYADLI | 2 | Danio rerio, Danio rerio | S184 | KRLTLSQIYEW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio | S184 | KRLTLSQIYDW | 2 | Xenopus tropicalis, Danio rerio | S205 | KGDSNSSAGWK | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | S212 | AGWKNSIRHNL | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | S218 | IRHNLSLHSKF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S218 | IRHNLSLHSRF | 2 | Danio rerio, Danio rerio | S234 | EGTGKSSWWML | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | S234 | EGTGKSSWWIL | 1 | Xenopus tropicalis | S235 | GTGKSSWWMLN | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | S235 | GTGKSSWWILN | 1 | Xenopus tropicalis | W160 | SRRNAWGNLSY | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | W160 | SRRNAWGNMSY | 2 | Danio rerio, Danio rerio | W237 | GKSSWWMLNPE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | W237 | GKSSWWILNPE | 1 | Xenopus tropicalis | Y165 | WGNLSYADLIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y165 | WGNMSYADLIT | 2 | Danio rerio, Danio rerio | Y165 | WGNLSYADLIS | 1 | Xenopus tropicalis | Y187 | TLSQIYEWMVK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Danio rerio | Y187 | TLSQIYDWMVK | 2 | Xenopus tropicalis, Danio rerio |
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