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 FOXO4

Gene summary

Basic gene Info.	Gene symbol	FOXO4
	Gene name	forkhead box O4
	Synonyms	AFX\|AFX1\|MLLT7
	Cytomap	UCSC genome browser: Xq13.1
	Type of gene	protein-coding
	RefGenes	NM_001170931.1, NM_005938.3,
	Description	fork head domain transcription factor AFX1forkhead box protein O4myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7
	Modification date	20141222
dbXrefs	MIM : 300033
	HGNC : HGNC
	Ensembl : ENSG00000184481
	HPRD : 02070
	Vega : OTTHUMG00000021789
Protein	UniProt: P98177 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_FOXO4
	BioGPS: 4303
Pathway	NCI Pathway Interaction Database: FOXO4
	KEGG: FOXO4
	REACTOME: FOXO4
	Pathway Commons: FOXO4
Context	iHOP: FOXO4
	ligand binding site mutation search in PubMed: FOXO4
	UCL Cancer Institute: FOXO4
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:0006355	regulation of transcription, DNA-templated	15126506
GO:0007050	cell cycle arrest	10783894
GO:0008285	negative regulation of cell proliferation	10783894
GO:0008286	insulin receptor signaling pathway	10217147
GO:0016525	negative regulation of angiogenesis	12761217
GO:0051151	negative regulation of smooth muscle cell differentiation	16054032
GO:0070317	negative regulation of G0 to G1 transition	10783894

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Ligand binding site mutations for FOXO4

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
R98	R98W	COAD	1
Y106	E108K	GBM	1
N99	A100S	LUSC	1
S176	S176C	LUSC	1
R155,S153	I154T	STAD	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.

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Protein structure related information for FOXO4

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
S153	I154T	-1.4288178
R155	I154T	-1.4288178
N99	A100S	-1.3811998
Y106	E108K	-1.2604849
R98	R98W	-1.0449212
S176	S176C	-0.50237783

(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 FOXO4 from PDB

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Differential gene expression and gene-gene network for FOXO4

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 FOXO4 and the right PPI network was created from samples without mutations in the LBS of FOXO4. 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 FOXO4

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for FOXO4

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.