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 CLIC1
Gene summary
Basic gene Info.Gene symbolCLIC1
Gene namechloride intracellular channel 1
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
DescriptionRNCC proteinchloride channel ABPchloride intracellular channel protein 1hRNCCnuclear chloride ion channel 27nuclear chloride ion channel proteinp64CLCPregulatory nuclear chloride ion channel protein
Modification date20141207
dbXrefs MIM : 602872
Ensembl : ENSG00000213719
HPRD : 04188
Vega : OTTHUMG00000031103
ProteinUniProt: O00299
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CLIC1
BioGPS: 1192
PathwayNCI Pathway Interaction Database: CLIC1
Pathway Commons: CLIC1
ContextiHOP: CLIC1
ligand binding site mutation search in PubMed: CLIC1
UCL Cancer Institute: CLIC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006821chloride transport9139710
GO:1902476chloride transmembrane transport9139710

Ligand binding site mutations for CLIC1
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 CLIC1
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 CLIC1 from PDB

Differential gene expression and gene-gene network for CLIC1
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 CLIC1 and the right PPI network was created from samples without mutations in the LBS of CLIC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CLIC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis4Biomarker
umls:C1458155Breast Neoplasms1Biomarker
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker
umls:C0019693HIV Infections1Biomarker

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

Pharmacological information for CLIC1
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 CLIC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CLIC1
Multiple alignments for O00299 in multiple species
LBSAA sequence# speciesSpecies
C24K-IGNCPFSQR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C24DHLGDCPFSQR1Arabidopsis thaliana
C24DVLGDCPFSQR1Arabidopsis thaliana
D76TEVHTDTNKIE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D76DKWVTDSDVIV1Arabidopsis thaliana
D76GKWVADSDVIV1Arabidopsis thaliana
F26IGNCPFSQRLF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F26LGDCPFSQRAL1Arabidopsis thaliana
F26LGDCPFSQRVL1Arabidopsis thaliana
K13VELFVKAGSDG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K13LEICVKAAVGA1Arabidopsis thaliana
K13LDICVKVAVGA1Arabidopsis thaliana
L64CPGGQLPFLLY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L64SPQGKVPVLKI1Arabidopsis thaliana
L64SPEGKVPVVKL1Arabidopsis thaliana
T77EVHTDTNKIEE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T77KWVTDSDVIVG1Arabidopsis thaliana
T77KWVADSDVIVG1Arabidopsis thaliana

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