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 ZIC3
Gene summary
Basic gene Info.Gene symbolZIC3
Gene nameZic family member 3
CytomapUCSC genome browser: Xq26.2
Type of geneprotein-coding
DescriptionZic family member 3 (odd-paired homolog, Drosophila)heterotaxy 1zinc finger protein 203zinc finger protein ZIC 3zinc finger protein of the cerebellum 3
Modification date20141207
dbXrefs MIM : 300265
Ensembl : ENSG00000156925
HPRD : 02225
Vega : OTTHUMG00000022525
ProteinUniProt: O60481
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ZIC3
BioGPS: 7547
PathwayNCI Pathway Interaction Database: ZIC3
Pathway Commons: ZIC3
ContextiHOP: ZIC3
ligand binding site mutation search in PubMed: ZIC3
UCL Cancer Institute: ZIC3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0045944positive regulation of transcription from RNA polymerase II promoter17764085

Ligand binding site mutations for ZIC3
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

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 ZIC3
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 ZIC3 from PDB

Differential gene expression and gene-gene network for ZIC3
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 ZIC3 and the right PPI network was created from samples without mutations in the LBS of ZIC3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ZIC3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0005941Bone Diseases, Developmental1Biomarker
umls:C0376634Craniofacial Abnormalities1Biomarker
umls:C1306710Facial Asymmetry1Biomarker

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

Pharmacological information for ZIC3
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 ZIC3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ZIC3
Multiple alignments for O60481 in multiple species
LBSAA sequence# speciesSpecies
C253KQELSCKWIDE1Homo sapiens
C253KQELSCKWIEE1Mus musculus
C253KQELSCKWLEE1Xenopus tropicalis
C268RPKKSCDRTFS2Homo sapiens, Mus musculus
C268RPQKTCDRTFS1Xenopus tropicalis
H281HELVTHVTMEH2Homo sapiens, Mus musculus
H281HELVTHMTMEH1Xenopus tropicalis
H286HVTMEHVGGPE2Homo sapiens, Mus musculus
H286HMTMEHVGGPE1Xenopus tropicalis

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