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 CTCF
Gene summary
Basic gene Info.Gene symbolCTCF
Gene nameCCCTC-binding factor (zinc finger protein)
CytomapUCSC genome browser: 16q21-q22.3
Type of geneprotein-coding
Description11 zinc finger transcriptional repressor11-zinc finger proteinCTCFL paralogtranscriptional repressor CTCF
Modification date20141207
dbXrefs MIM : 604167
Ensembl : ENSG00000102974
HPRD : 05005
Vega : OTTHUMG00000137539
ProteinUniProt: P49711
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTCF
BioGPS: 10664
PathwayNCI Pathway Interaction Database: CTCF
Pathway Commons: CTCF
ContextiHOP: CTCF
ligand binding site mutation search in PubMed: CTCF
UCL Cancer Institute: CTCF
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000122negative regulation of transcription from RNA polymerase II promoter8649389
GO:0016584nucleosome positioning18654629
GO:0045892negative regulation of transcription, DNA-templated18413740
GO:0045893positive regulation of transcription, DNA-templated9407128

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.

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 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

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 CTCF from PDB

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


Phenotype information for CTCF
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1860789Leukemia, Megakaryoblastic, of Down Syndrome1Biomarker

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

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.
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 CTCF go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CTCF
Multiple alignments for P49711 in multiple species
LBSAA sequence# speciesSpecies
C409EKPYECYICHA3Homo sapiens, Mus musculus, Rattus norvegicus
C412YECYICHARFT3Homo sapiens, Mus musculus, Rattus norvegicus
C525EKPYACSHCDK3Homo sapiens, Mus musculus, Rattus norvegicus
C528YACSHCDKTFR3Homo sapiens, Mus musculus, Rattus norvegicus
C557PAAFVCSKCGK3Homo sapiens, Mus musculus, Rattus norvegicus
C560FVCSKCGKTFT3Homo sapiens, Mus musculus, Rattus norvegicus
C577RHADNCAGPDG3Homo sapiens, Mus musculus, Rattus norvegicus
H425GTMKMHILQKH3Homo sapiens, Mus musculus, Rattus norvegicus
H430HILQKHTENVA3Homo sapiens, Mus musculus, Rattus norvegicus
H541QLLDMHFKRYH3Homo sapiens, Mus musculus, Rattus norvegicus
H546HFKRYHDPNFV3Homo sapiens, Mus musculus, Rattus norvegicus
H573NTMARHADNCA3Homo sapiens, Mus musculus, Rattus norvegicus

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