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 ZNF268

Gene summary

Basic gene Info.	Gene symbol	ZNF268
	Gene name	zinc finger protein 268
	Synonyms	HZF3
	Cytomap	UCSC genome browser: 12q24.33
	Type of gene	protein-coding
	RefGenes	NM_001165881.2, NM_001165882.2,NM_001165883.1,NM_001165884.2,NM_001165885.1, NM_001165886.1,NM_001165887.1,NM_003415.2,NM_152943.2,
	Description	zinc finger protein 3zinc finger protein HZF3
	Modification date	20141207
dbXrefs	MIM : 604753
	HGNC : HGNC
	HPRD : 05300
Protein	UniProt: Q14587 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ZNF268
	BioGPS: 10795
Pathway	NCI Pathway Interaction Database: ZNF268
	KEGG: ZNF268
	REACTOME: ZNF268
	Pathway Commons: ZNF268
Context	iHOP: ZNF268
	ligand binding site mutation search in PubMed: ZNF268
	UCL Cancer Institute: ZNF268
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:0000122	negative regulation of transcription from RNA polymerase II promoter	12822888
GO:0001934	positive regulation of protein phosphorylation	23091055
GO:0008588	release of cytoplasmic sequestered NF-kappaB	23091055
GO:0043497	regulation of protein heterodimerization activity	23091055
GO:0045732	positive regulation of protein catabolic process	23091055
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	23091055
GO:0071356	cellular response to tumor necrosis factor	23091055
GO:0090073	positive regulation of protein homodimerization activity	23091055

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Ligand binding site mutations for ZNF268

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H326,H322	R324I	UCEC	2
H518	R520G	BRCA	1
H326,H322	R324I	COAD	1
C306	N307Y	LUAD	1
H406	R408K	UCEC	1
H942	R940I	UCEC	1
C922	C920F	UCEC	1
H354	R352K	UCEC	1
H826	R828Q	UCEC	1
H490	R492I	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.

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Protein structure related information for ZNF268

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
H406	R408K	-1.2998692
C922	C920F	-1.2724858
H826	R828Q	-1.257921
H354	R352K	-1.1328306
H518	R520G	-0.9090802
H322	R324I	-0.89347415
H326	R324I	-0.89347415
H490	R492I	-0.86635889
H942	R940I	-0.5691362
C306	N307Y	-0.029890914

(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 ZNF268 from PDB

PDB ID	PDB title	PDB structure
2EL4	Solution structure of the 15th zf-C2H2 domain from human Zinc finger protein 268

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Differential gene expression and gene-gene network for ZNF268

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 ZNF268 and the right PPI network was created from samples without mutations in the LBS of ZNF268. 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 ZNF268

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 ZNF268

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 ZNF268 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ZN		ZINC(2+)	2epw	A	C922 H942
ZN		ZINC(2+)	2epv	A	H826

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Conservation information for LBS of ZNF268

Multiple alignments for Q14587 in multiple species

LBS

AA sequence

# species

Species