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mutLBSgeneDB |
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| Gene summary for MBD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MBD1 |
| Gene name | methyl-CpG binding domain protein 1 | |
| Synonyms | CXXC3|PCM1|RFT | |
| Cytomap | UCSC genome browser: 18q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204136.1, NM_001204137.1,NM_001204138.1,NM_001204139.1,NM_001204140.1, NM_001204141.1,NM_001204142.1,NM_001204143.1,NM_001204151.1, NM_002384.2,NM_015844.2,NM_015845.3,NM_015846.3, NM_015847.3, | |
| Description | CXXC-type zinc finger protein 3methyl-CpG binding domain protein 1 isoform PCM1methyl-CpG-binding domain protein 1protein containing methyl-CpG-binding domain 1the regulator of fibroblast growth factor 2 (FGF-2) transcription | |
| Modification date | 20141209 | |
| dbXrefs | MIM : 156535 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000141644 | ||
| HPRD : 01133 | ||
| Vega : OTTHUMG00000132669 | ||
| Protein | UniProt: Q9UIS9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MBD1 | |
| BioGPS: 4152 | ||
| Pathway | NCI Pathway Interaction Database: MBD1 | |
| KEGG: MBD1 | ||
| REACTOME: MBD1 | ||
| Pathway Commons: MBD1 | ||
| Context | iHOP: MBD1 | |
| ligand binding site mutation search in PubMed: MBD1 | ||
| UCL Cancer Institute: MBD1 | ||
| 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 |
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| Ligand binding site mutations for MBD1 |
| 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 | R22 | R22C | UCEC | 2 | F64 | D63N | COAD | 1 | R22 | R22H | UCEC | 1 | R18 | R17C | UCEC | 1 | R18 | R18H | 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 MBD1 |
| 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 | R22 | R22H | -1.1718783 | F64 | D63N | -1.1401031 | R22 | R22C | -0.93371995 | R18 | R17C | -0.81688982 | R18 | R18H | -0.76358209 |
| (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 MBD1 from PDB |
| PDB ID | PDB title | PDB structure | 1D9N | SOLUTION STRUCTURE OF THE METHYL-CPG-BINDING DOMAIN OF THE METHYLATION-DEPENDENT TRANSCRIPTIONAL REPRESSOR MBD1/PCM1 |  |
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| Differential gene expression and gene-gene network for MBD1 |
| 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 MBD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MBD1 |
| 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 MBD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1ig4 | A | F64 | NUC | Nucleic Acids | 1ig4 | A | R18 R22 |
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| Conservation information for LBS of MBD1 |
| Multiple alignments for Q9UIS9 in multiple species |
| LBS | AA sequence | # species | Species |
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