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 ZNF423
Gene summary
Basic gene Info.Gene symbolZNF423
Gene namezinc finger protein 423
CytomapUCSC genome browser: 16q12
Type of geneprotein-coding
DescriptionOLF-1/EBF associated zinc fingerSmad- and Olf-interacting zinc finger proteinearly B-cell factor associated zinc finger proteinhOAZolf1/EBF-associated zinc finger protein
Modification date20141207
dbXrefs MIM : 604557
Ensembl : ENSG00000102935
HPRD : 05189
Vega : OTTHUMG00000173491
ProteinUniProt: Q2M1K9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ZNF423
BioGPS: 23090
PathwayNCI Pathway Interaction Database: ZNF423
Pathway Commons: ZNF423
ContextiHOP: ZNF423
ligand binding site mutation search in PubMed: ZNF423
UCL Cancer Institute: ZNF423
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0045892negative regulation of transcription, DNA-templated10660046
GO:0045893positive regulation of transcription, DNA-templated10660046

Ligand binding site mutations for ZNF423

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for ZNF423
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
(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 ZNF423 from PDB

Differential gene expression and gene-gene network for ZNF423
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 ZNF423 and the right PPI network was created from samples without mutations in the LBS of ZNF423. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ZNF423
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3539071NEPHRONOPHTHISIS 141GeneticVariation
umls:C0236733Amphetamine-Related Disorders1Biomarker

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

Pharmacological information for ZNF423
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ZNF423 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ZNF423
Multiple alignments for Q2M1K9 in multiple species
LBSAA sequence# speciesSpecies
C932KGSHKCNVCSR3Homo sapiens, Mus musculus, Rattus norvegicus
C932KGNHKCNVCSR1Danio rerio
C935HKCNVCSRTFF4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
H948NGLREHLQTHR3Homo sapiens, Mus musculus, Rattus norvegicus
H948NGLREHAQTHR1Danio rerio
H952EHLQTHRGPAK3Homo sapiens, Mus musculus, Rattus norvegicus
H952EHAQTHRGPAK1Danio rerio

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