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 ZNF512
Gene summary
Basic gene Info.Gene symbolZNF512
Gene namezinc finger protein 512
Synonyms-
CytomapUCSC genome browser: 2p23
Type of geneprotein-coding
RefGenesNM_001271286.1,
NM_001271287.1,NM_001271288.1,NM_001271289.1,NM_001271318.1,
NM_032434.3,
Description-
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000243943
HPRD : 10336
Vega : OTTHUMG00000097786
ProteinUniProt: Q96ME7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ZNF512
BioGPS: 84450
PathwayNCI Pathway Interaction Database: ZNF512
KEGG: ZNF512
REACTOME: ZNF512
Pathway Commons: ZNF512
ContextiHOP: ZNF512
ligand binding site mutation search in PubMed: ZNF512
UCL Cancer Institute: ZNF512
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ZNF512

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C202G203WLUAD1
H220H220NUCEC1
C174Q175HUCEC1
H188K186NUCEC1
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 ZNF512
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.
LBSAAchange of nsSNVRelative stability change
C174Q175H-0.78149382
H188K186N-0.63025936
C202G203W-0.51712971
H220H220N-0.10418398
(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 ZNF512 from PDB

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Differential gene expression and gene-gene network for ZNF512
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 ZNF512 and the right PPI network was created from samples without mutations in the LBS of ZNF512. 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 ZNF512
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for ZNF512
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ZNF512 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ZNF512
Multiple alignments for Q96ME7 in multiple species
LBSAA sequence# speciesSpecies
C171KGSVSCPTCQA3Homo sapiens, Mus musculus, Bos taurus
C174VSCPTCQAVGR3Homo sapiens, Mus musculus, Bos taurus
C192KHMENCKQEMF3Homo sapiens, Mus musculus, Bos taurus
C199QEMFTCHHCGK3Homo sapiens, Mus musculus, Bos taurus
C202FTCHHCGKQLR2Homo sapiens, Bos taurus
C202FTCHHCGKQLH1Mus musculus
H188EGLKKHMENCK3Homo sapiens, Mus musculus, Bos taurus
H215AGMKYHVMANH3Homo sapiens, Mus musculus, Bos taurus
H220HVMANHNSLPI3Homo sapiens, Mus musculus, Bos taurus


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