Fusion genes
(updated 2016) | FLNB (3p14.3) / MECP2 (Xq28) | GKAP1 (9q21.32) / MECP2 (Xq28) | HCFC1 (Xq28) / MECP2 (Xq28) |
| |
IRAK1 (Xq28) / MECP2 (Xq28) | KTN1 (14q22.3) / MECP2 (Xq28) | MECP2 (Xq28) / F8 (Xq28) |
| |
MECP2 (Xq28) / HCFC1R1 (16p13.3) | MECP2 (Xq28) / MECP2 (Xq28) | MECP2 (Xq28) / NKIRAS2 (17q21.2) |
| |
HCFC1 Xq28 / MECP2 Xq28 | IRAK1 Xq28 / MECP2 Xq28 |
| Nomenclature |
|---|
| HGNC (Hugo) | MECP2 6990 |
| Cards |
|---|
| Entrez_Gene (NCBI) | MECP2 4204 methyl-CpG binding protein 2 |
| Aliases | AUTSX3; MRX16; MRX79; MRXS13; |
| MRXSL; PPMX; RS; RTS; RTT |
| GeneCards (Weizmann) | MECP2 |
| Ensembl hg19 (Hinxton) | ENSG00000169057 [Gene_View] chrX:153295686-153363188 [Contig_View] MECP2 [Vega] |
| Ensembl hg38 (Hinxton) | ENSG00000169057 [Gene_View] chrX:153295686-153363188 [Contig_View] MECP2 [Vega] |
| ICGC DataPortal | ENSG00000169057 |
| TCGA cBioPortal | MECP2 |
| AceView (NCBI) | MECP2 |
| Genatlas (Paris) | MECP2 |
| WikiGenes | 4204 |
| SOURCE (Princeton) | MECP2 |
| Genomic and cartography |
|---|
| GoldenPath hg19 (UCSC) | MECP2 - chrX:153295686-153363188 - Xq28 [Description] (hg19-Feb_2009) |
| GoldenPath hg38 (UCSC) | MECP2 - Xq28 [Description] (hg38-Dec_2013) |
| Ensembl | MECP2 - Xq28 [CytoView hg19] MECP2 - Xq28 [CytoView hg38] |
| Mapping of homologs : NCBI | MECP2 [Mapview hg19] MECP2 [Mapview hg38] |
| OMIM | 105830 300005 300055 300260 300496 300673 312750 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AB209464 AF158180 AJ132917 AK289444 AM392557 |
| RefSeq transcript (Entrez) | NM_001110792 NM_001316337 NM_004992 |
| RefSeq genomic (Entrez) | NC_000023 NC_018934 NG_007107 NT_011681 NW_004929448 |
| Consensus coding sequences : CCDS (NCBI) | MECP2 |
| Cluster EST : Unigene | Hs.702514 [ NCBI ] |
| CGAP (NCI) | Hs.702514 |
| Alternative Splicing Gallery | ENSG00000169057 |
| Gene Expression | MECP2 [ NCBI-GEO ] MECP2 [ EBI - ARRAY_EXPRESS ]
MECP2 [ SEEK ] MECP2 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | MECP2 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 4204 |
| GTEX Portal (Tissue expression) | MECP2 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P51608 (Uniprot) |
| NextProt | P51608 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P51608 |
| Splice isoforms : SwissVar | P51608 (Swissvar) |
| PhosPhoSitePlus | P51608 |
| Domaine pattern : Prosite (Expaxy) | MBD (PS50982) |
| Domains : Interpro (EBI) | AT_hook_DNA-bd_motif DNA-bd_dom Me_CpG-bd_MeCP2 Methyl_CpG_DNA-bd |
| Domain families : Pfam (Sanger) | MBD (PF01429) |
| Domain families : Pfam (NCBI) | pfam01429 |
| Domain families : Smart (EMBL) | AT_hook (SM00384) MBD (SM00391) |
| DMDM Disease mutations | 4204 |
| Blocks (Seattle) | MECP2 |
| PDB (SRS) | 1QK9 3C2I |
| PDB (PDBSum) | 1QK9 3C2I |
| PDB (IMB) | 1QK9 3C2I |
| PDB (RSDB) | 1QK9 3C2I |
| Structural Biology KnowledgeBase | 1QK9 3C2I |
| SCOP (Structural Classification of Proteins) | 1QK9 3C2I |
| CATH (Classification of proteins structures) | 1QK9 3C2I |
| Superfamily | P51608 |
| Human Protein Atlas | ENSG00000169057 |
| Peptide Atlas | P51608 |
| HPRD | 02050 |
| IPI | IPI00418234 IPI00964558 IPI00645192 IPI01010228 IPI00852714 IPI01021519 IPI00816549 IPI00878746 IPI00893388 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P51608 |
| IntAct (EBI) | P51608 |
| FunCoup | ENSG00000169057 |
| BioGRID | MECP2 |
| STRING (EMBL) | MECP2 |
| ZODIAC | MECP2 |
| Ontologies - Pathways |
|---|
| QuickGO | P51608 |
| Ontology : AmiGO | negative regulation of transcription from RNA polymerase II promoter four-way junction DNA binding nuclear chromatin heterochromatin behavioral fear response response to hypoxia startle response neurological system process involved in regulation of systemic arterial blood pressure regulation of respiratory gaseous exchange by neurological system process DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity mRNA binding protein binding extracellular space nucleus mitochondrion cytosol inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c chromatin silencing regulation of gene expression by genetic imprinting transcription, DNA-templated glutamine metabolic process synapse assembly heart development respiratory gaseous exchange long-term memory locomotory behavior protein localization transcription factor binding glucocorticoid metabolic process positive regulation of cell proliferation methyl-CpG binding adult locomotory behavior visual learning response to radiation pathogenesis post-embryonic development response to ionizing radiation response to lead ion double-stranded methylated DNA binding dendrite development histone methylation histone acetylation proprioception sensory perception of pain protein domain specific binding cerebellum development ventricular system development negative regulation of histone methylation chromatin DNA binding cardiolipin metabolic process response to estradiol negative regulation of histone acetylation social behavior siRNA binding neuron maturation histone deacetylase binding protein complex negative regulation of neuron apoptotic process regulation of DNA methylation poly(A) RNA binding unmethylated CpG binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding negative regulation of astrocyte differentiation catecholamine secretion positive regulation of synapse assembly excitatory postsynaptic potential long-term synaptic potentiation postsynapse |
| Ontology : EGO-EBI | negative regulation of transcription from RNA polymerase II promoter four-way junction DNA binding nuclear chromatin heterochromatin behavioral fear response response to hypoxia startle response neurological system process involved in regulation of systemic arterial blood pressure regulation of respiratory gaseous exchange by neurological system process DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity mRNA binding protein binding extracellular space nucleus mitochondrion cytosol inositol metabolic process mitochondrial electron transport, ubiquinol to cytochrome c chromatin silencing regulation of gene expression by genetic imprinting transcription, DNA-templated glutamine metabolic process synapse assembly heart development respiratory gaseous exchange long-term memory locomotory behavior protein localization transcription factor binding glucocorticoid metabolic process positive regulation of cell proliferation methyl-CpG binding adult locomotory behavior visual learning response to radiation pathogenesis post-embryonic development response to ionizing radiation response to lead ion double-stranded methylated DNA binding dendrite development histone methylation histone acetylation proprioception sensory perception of pain protein domain specific binding cerebellum development ventricular system development negative regulation of histone methylation chromatin DNA binding cardiolipin metabolic process response to estradiol negative regulation of histone acetylation social behavior siRNA binding neuron maturation histone deacetylase binding protein complex negative regulation of neuron apoptotic process regulation of DNA methylation poly(A) RNA binding unmethylated CpG binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding negative regulation of astrocyte differentiation catecholamine secretion positive regulation of synapse assembly excitatory postsynaptic potential long-term synaptic potentiation postsynapse |
| NDEx Network | MECP2 |
| Atlas of Cancer Signalling Network | MECP2 |
| Wikipedia pathways | MECP2 |
| Orthology - Evolution |
|---|
| OrthoDB | 4204 |
| GeneTree (enSembl) | ENSG00000169057 |
| Phylogenetic Trees/Animal Genes : TreeFam | MECP2 |
| Homologs : HomoloGene | MECP2 |
| Homology/Alignments : Family Browser (UCSC) | MECP2 |
| Gene fusions - Rearrangements |
|---|
| Fusion: TCGA | HCFC1 Xq28 MECP2 Xq28 BRCA |
| Fusion: TCGA | IRAK1 Xq28 MECP2 Xq28 BLCA |
| Polymorphisms : SNP, variants |
|---|
| NCBI Variation Viewer | MECP2 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | MECP2 |
| dbVar | MECP2 |
| ClinVar | MECP2 |
| 1000_Genomes | MECP2 |
| Exome Variant Server | MECP2 |
| ExAC (Exome Aggregation Consortium) | MECP2 (select the gene name) |
| Genetic variants : HAPMAP | 4204 |
| Genomic Variants (DGV) | MECP2 [DGVbeta] |
| Mutations |
|---|
| ICGC Data Portal | MECP2 |
| TCGA Data Portal | MECP2 |
| Broad Tumor Portal | MECP2 |
| OASIS Portal | MECP2 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | MECP2 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | X-chromosome gene database |
| LOVD (Leiden Open Variation Database) | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
| LOVD (Leiden Open Variation Database) | MSeqDR-LSDB Mitochondrial Disease Locus Specific Database |
| BioMuta | search MECP2 |
| DgiDB (Drug Gene Interaction Database) | MECP2 |
| DoCM (Curated mutations) | MECP2 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | MECP2 (select a term) |
| intoGen | MECP2 |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] |
| Diseases |
|---|
| DECIPHER (Syndromes) | X:153295686-153363188 ENSG00000169057 |
| CONAN: Copy Number Analysis | MECP2 |
| Mutations and Diseases : HGMD | MECP2 |
| OMIM | 105830 300005 300055 300260 300496 300673 312750 |
| Medgen | MECP2 |
| Genetic Testing Registry | MECP2
|
| NextProt | P51608 [Medical] |
| TSGene | 4204 |
| GENETests | MECP2 |
| Huge Navigator |
MECP2 [HugePedia] |
| snp3D : Map Gene to Disease | 4204 |
| BioCentury BCIQ | MECP2 |
| ClinGen | MECP2 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 4204 |
| Chemical/Pharm GKB Gene | PA30729 |
| Clinical trial | MECP2 |
| Miscellaneous |
|---|
| canSAR (ICR) | MECP2 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 483 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | MECP2 |
| EVEX | MECP2 |
| GoPubMed | MECP2 |
| iHOP | MECP2 |
