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mutLBSgeneDB |
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| Gene summary for MECP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | MECP2 |
| Gene name | methyl CpG binding protein 2 | |
| Synonyms | AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT | |
| Cytomap | UCSC genome browser: Xq28 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001110792.1, NM_004992.3, | |
| Description | meCp-2 proteinmethyl-CpG-binding protein 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 300005 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000169057 | ||
| HPRD : 02050 | ||
| Vega : OTTHUMG00000024229 | ||
| Protein | UniProt: P51608 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MECP2 | |
| BioGPS: 4204 | ||
| Pathway | NCI Pathway Interaction Database: MECP2 | |
| KEGG: MECP2 | ||
| REACTOME: MECP2 | ||
| Pathway Commons: MECP2 | ||
| Context | iHOP: MECP2 | |
| ligand binding site mutation search in PubMed: MECP2 | ||
| UCL Cancer Institute: MECP2 | ||
| 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:0045892 | negative regulation of transcription, DNA-templated | 11441023 |
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| Ligand binding site mutations for MECP2 |
| 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 | D121,K119 | Y120C | LUSC | 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 MECP2 |
| 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 | D121 | Y120C | -0.49009486 | K119 | Y120C | -0.49009486 |
| (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 MECP2 from PDB |
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| Differential gene expression and gene-gene network for MECP2 |
| 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 MECP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0035372 | Rett Syndrome | 498 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0004352 | Autistic Disorder | 59 | Biomarker, GeneticVariation |
| umls:C0036572 | Seizures | 18 | Biomarker, GeneticVariation |
| umls:C3714756 | Intellectual Disability | 17 | Biomarker, GeneticVariation |
| umls:C0162635 | Angelman Syndrome | 14 | Biomarker, GeneticVariation |
| umls:C2748910 | Rett Syndrome, Atypical | 12 | Biomarker, GeneticVariation |
| umls:C0026827 | Muscle Hypotonia | 7 | Biomarker |
| umls:C0008073 | Developmental Disabilities | 6 | Biomarker |
| umls:C1846058 | Lubs X-linked mental retardation syndrome | 5 | Biomarker, GeneticVariation |
| umls:C0003469 | Anxiety Disorders | 3 | Biomarker |
| umls:C0034069 | Pulmonary Fibrosis | 2 | Biomarker |
| umls:C0008074 | Child Development Disorders, Pervasive | 1 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0023186 | Learning Disorders | 1 | Biomarker |
| umls:C0027066 | Myoclonus | 1 | Biomarker |
| umls:C0033922 | Psychomotor Disorders | 1 | Biomarker |
| umls:C0035229 | Respiratory Insufficiency | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MECP2 |
| 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 MECP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3c2i | A | D121 | NUC | Nucleic Acids | 3c2i | A | K119 |
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| Conservation information for LBS of MECP2 |
| Multiple alignments for P51608 in multiple species |
| LBS | AA sequence | # species | Species | D121 | SAGKYDVYLIN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G114 | KQRKSGRSAGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K109 | WTRKLKQRKSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K112 | KLKQRKSGRSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K119 | GRSAGKYDVYL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R111 | RKLKQRKSGRS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R133 | QGKAFRSKVEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S113 | LKQRKSGRSAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S116 | RKSGRSAGKYD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S134 | GKAFRSKVELI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T158 | NDFDFTVTGRG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V159 | DFDFTVTGRGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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