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 IKZF4

Gene summary

Basic gene Info.	Gene symbol	IKZF4
	Gene name	IKAROS family zinc finger 4 (Eos)
	Synonyms	EOS\|ZNFN1A4
	Cytomap	UCSC genome browser: 12q13
	Type of gene	protein-coding
	RefGenes	NM_022465.3,
	Description	ikaros family zinc finger protein 4zinc finger protein Eoszinc finger protein, subfamily 1A, 4 (Eos)zinc finger transcription factor Eos
	Modification date	20141207
dbXrefs	MIM : 606239
	HGNC : HGNC
	Ensembl : ENSG00000123411
	HPRD : 05874
	Vega : OTTHUMG00000170132
Protein	UniProt: Q9H2S9 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_IKZF4
	BioGPS: 64375
Pathway	NCI Pathway Interaction Database: IKZF4
	KEGG: IKZF4
	REACTOME: IKZF4
	Pathway Commons: IKZF4
Context	iHOP: IKZF4
	ligand binding site mutation search in PubMed: IKZF4
	UCL Cancer Institute: IKZF4
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID

GO Term

PubMed ID

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Ligand binding site mutations for IKZF4

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
H205	R204C	COAD	2
H209	S210C	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 IKZF4

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
H205	R204C	-1.1599929
H209	S210C	-0.24928582

(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 IKZF4 from PDB

PDB ID	PDB title	PDB structure
2MA7	Solution NMR Structure of Zinc finger protein Eos from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR7992A

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Differential gene expression and gene-gene network for IKZF4

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 IKZF4 and the right PPI network was created from samples without mutations in the LBS of IKZF4. 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 IKZF4

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0002171	Alopecia Areata	1	Biomarker, GeneticVariation
umls:C0042900	Vitiligo	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for IKZF4

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.