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mutLBSgeneDB |
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| Gene summary for CLIC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CLIC1 |
| Gene name | chloride intracellular channel 1 | |
| Synonyms | G6|NCC27 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001287593.1, NM_001287594.1,NM_001288.4, | |
| Description | RNCC proteinchloride channel ABPchloride intracellular channel protein 1hRNCCnuclear chloride ion channel 27nuclear chloride ion channel proteinp64CLCPregulatory nuclear chloride ion channel protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602872 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000213719 | ||
| HPRD : 04188 | ||
| Vega : OTTHUMG00000031103 | ||
| Protein | UniProt: O00299 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CLIC1 | |
| BioGPS: 1192 | ||
| Pathway | NCI Pathway Interaction Database: CLIC1 | |
| KEGG: CLIC1 | ||
| REACTOME: CLIC1 | ||
| Pathway Commons: CLIC1 | ||
| Context | iHOP: CLIC1 | |
| ligand binding site mutation search in PubMed: CLIC1 | ||
| UCL Cancer Institute: CLIC1 | ||
| 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 | GO:0006821 | chloride transport | 9139710 | GO:1902476 | chloride transmembrane transport | 9139710 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L64 | Q63R | STAD | 1 | D76 | D76N | 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. |
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| 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 |
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| 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 | D76 | D76N | -0.7714719 | L64 | Q63R | -0.21743989 |
| (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 |
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| 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) |
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| Phenotype information for CLIC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 4 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 1 | Biomarker |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
| umls:C0019693 | HIV Infections | 1 | Biomarker |
| umls:C0022548 | Keloid | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CLIC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GSH | GLUTATHIONATE(1-) | 1k0n | A | L64 D76 |
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| Conservation information for LBS of CLIC1 |
| Multiple alignments for O00299 in multiple species |
| LBS | AA sequence | # species | Species | C24 | K-IGNCPFSQR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C24 | DHLGDCPFSQR | 1 | Arabidopsis thaliana | C24 | DVLGDCPFSQR | 1 | Arabidopsis thaliana | D76 | TEVHTDTNKIE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D76 | DKWVTDSDVIV | 1 | Arabidopsis thaliana | D76 | GKWVADSDVIV | 1 | Arabidopsis thaliana | F26 | IGNCPFSQRLF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F26 | LGDCPFSQRAL | 1 | Arabidopsis thaliana | F26 | LGDCPFSQRVL | 1 | Arabidopsis thaliana | K13 | VELFVKAGSDG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K13 | LEICVKAAVGA | 1 | Arabidopsis thaliana | K13 | LDICVKVAVGA | 1 | Arabidopsis thaliana | L64 | CPGGQLPFLLY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L64 | SPQGKVPVLKI | 1 | Arabidopsis thaliana | L64 | SPEGKVPVVKL | 1 | Arabidopsis thaliana | T77 | EVHTDTNKIEE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T77 | KWVTDSDVIVG | 1 | Arabidopsis thaliana | T77 | KWVADSDVIVG | 1 | Arabidopsis thaliana |
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