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mutLBSgeneDB |
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| Gene summary for CTCF |
 Gene summary |
| Basic gene Info. | Gene symbol | CTCF |
| Gene name | CCCTC-binding factor (zinc finger protein) | |
| Synonyms | MRD21 | |
| Cytomap | UCSC genome browser: 16q21-q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001191022.1, NM_006565.3, | |
| Description | 11 zinc finger transcriptional repressor11-zinc finger proteinCTCFL paralogtranscriptional repressor CTCF | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604167 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000102974 | ||
| HPRD : 05005 | ||
| Vega : OTTHUMG00000137539 | ||
| Protein | UniProt: P49711 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CTCF | |
| BioGPS: 10664 | ||
| Pathway | NCI Pathway Interaction Database: CTCF | |
| KEGG: CTCF | ||
| REACTOME: CTCF | ||
| Pathway Commons: CTCF | ||
| Context | iHOP: CTCF | |
| ligand binding site mutation search in PubMed: CTCF | ||
| UCL Cancer Institute: CTCF | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 8649389 | GO:0016584 | nucleosome positioning | 18654629 | GO:0045892 | negative regulation of transcription, DNA-templated | 18413740 | GO:0045893 | positive regulation of transcription, DNA-templated | 9407128 |
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| Ligand binding site mutations for CTCF |
| 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 | C557 | S558C | HNSC | 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 CTCF |
| 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 | C557 | S558C | -0.76530556 |
| (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 CTCF from PDB |
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| Differential gene expression and gene-gene network for CTCF |
| 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 CTCF |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3809686 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 | 1 | GeneticVariation |
| umls:C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CTCF |
| 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 CTCF go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CTCF |
| Multiple alignments for P49711 in multiple species |
| LBS | AA sequence | # species | Species | C409 | EKPYECYICHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C412 | YECYICHARFT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C525 | EKPYACSHCDK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C528 | YACSHCDKTFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C557 | PAAFVCSKCGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C560 | FVCSKCGKTFT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C577 | RHADNCAGPDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H425 | GTMKMHILQKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H430 | HILQKHTENVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H541 | QLLDMHFKRYH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H546 | HFKRYHDPNFV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H573 | NTMARHADNCA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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