mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

	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 ZNF347

Gene summary

Basic gene Info.	Gene symbol	ZNF347
	Gene name	zinc finger protein 347
	Synonyms	ZNF1111
	Cytomap	UCSC genome browser: 19q13.42
	Type of gene	protein-coding
	RefGenes	NM_001172674.1, NM_001172675.1,NM_032584.2,
	Description	zinc finger 1111zinc finger protein 1111
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000197937
	HPRD : 15783
	Vega : OTTHUMG00000182883
Protein	UniProt: Q96SE7 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ZNF347
	BioGPS: 84671
Pathway	NCI Pathway Interaction Database: ZNF347
	KEGG: ZNF347
	REACTOME: ZNF347
	Pathway Commons: ZNF347
Context	iHOP: ZNF347
	ligand binding site mutation search in PubMed: ZNF347
	UCL Cancer Institute: ZNF347
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

Top

Ligand binding site mutations for ZNF347

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H531	N530K	COAD	1
H391	A389S	COAD	1
H311	I310F	GBM	1
H731	T732P	HNSC	1
H311	H311Y	SKCM	1
H395	H395N	STAD	1
H535	H535N	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.

Top

Protein structure related information for ZNF347

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
H535	H535N	-1.3704159
H531	N530K	-1.1697704
H311	I310F	-1.0659097
H391	A389S	-0.82132397
H395	H395N	-0.7868358
H311	H311Y	-0.74046555
H731	T732P	-0.14810646

(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 ZNF347 from PDB

Top

Differential gene expression and gene-gene network for ZNF347

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 ZNF347 and the right PPI network was created from samples without mutations in the LBS of ZNF347. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

Top

Phenotype information for ZNF347

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