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 ZNF224

Gene summary

Basic gene Info.	Gene symbol	ZNF224
	Gene name	zinc finger protein 224
	Synonyms	BMZF-2\|BMZF2\|KOX22\|ZNF255\|ZNF27
	Cytomap	UCSC genome browser: 19q13.2
	Type of gene	protein-coding
	RefGenes	NM_013398.2,
	Description	bone marrow zinc finger 2zinc finger 2, bone marrowzinc finger protein 233zinc finger protein 255zinc finger protein 27 (KOX 22)zinc finger protein KOX22zinc finger protein ZNF255
	Modification date	20141207
dbXrefs	MIM : 194555
	HGNC : HGNC
	Ensembl : ENSG00000267680
	HPRD : 06094
	Vega : OTTHUMG00000182313
Protein	UniProt: Q9NZL3 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ZNF224
	BioGPS: 7767
Pathway	NCI Pathway Interaction Database: ZNF224
	KEGG: ZNF224
	REACTOME: ZNF224
	Pathway Commons: ZNF224
Context	iHOP: ZNF224
	ligand binding site mutation search in PubMed: ZNF224
	UCL Cancer Institute: ZNF224
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
GO:0045892	negative regulation of transcription, DNA-templated	20587513

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Ligand binding site mutations for ZNF224

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H698	R696Q	COAD	2
C654	E655K	BLCA	1
C206	Y204C	KIRC	1
C318	D319H	LUAD	1
H194	H194Y	SKCM	1
H194	R192C	SKCM	1
H226	V225A	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 ZNF224

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
C206	Y204C	-1.5255933
H226	V225A	-1.3338292
C654	E655K	-1.3264279
H698	R696Q	-1.0490232
C318	D319H	-1.0056105
H194	H194Y	-0.60772944
H194	R192C	-0.48077577

(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 ZNF224 from PDB

PDB ID	PDB title	PDB structure
2ELY	Solution structure of the third zf-C2H2 domain from human Zinc finger protein 224

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Differential gene expression and gene-gene network for ZNF224

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 ZNF224 and the right PPI network was created from samples without mutations in the LBS of ZNF224. 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 ZNF224

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 ZNF224

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.