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 |
| LRG (Locus Reference Genomic) | LRG_764 |
| 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] |
| Ensembl hg38 (Hinxton) | ENSG00000169057 [Gene_View] chrX:154030235-154097731 [Contig_View] MECP2 [Vega] |
| ICGC DataPortal | ENSG00000169057 |
| TCGA cBioPortal | MECP2 |
| AceView (NCBI) | MECP2 |
| Genatlas (Paris) | MECP2 |
| WikiGenes | 4204 |
| SOURCE (Princeton) | MECP2 |
| Genetics Home Reference (NIH) | MECP2 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | MECP2 - chrX:154030235-154097731 - Xq28 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | MECP2 - Xq28 [Description] (hg19-Feb_2009) |
| Ensembl | MECP2 - Xq28 [CytoView hg19] MECP2 - Xq28 [CytoView hg38] |
| Mapping of homologs : NCBI | MECP2 [Mapview hg19] MECP2 [Mapview hg38] |
| OMIM | 300005 300055 300260 300496 300673 312750 |
| Gene and transcription |
|---|
| Genbank (Entrez) | ############################################################################################################################################################################################################################################################### |
| RefSeq transcript (Entrez) | NM_001110792 NM_001316337 NM_004992 |
| RefSeq genomic (Entrez) | |
| 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 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P51608 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P51608 |
| Splice isoforms : SwissVar | P51608 |
| PhosPhoSitePlus | P51608 |
| Domaine pattern : Prosite (Expaxy) | MBD (PS50982) |
| Domains : Interpro (EBI) | 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) | MBD (SM00391) |
| Conserved Domain (NCBI) | MECP2 |
| DMDM Disease mutations | 4204 |
| Blocks (Seattle) | MECP2 |
| PDB (SRS) | 1QK9 3C2I 5BT2 |
| PDB (PDBSum) | 1QK9 3C2I 5BT2 |
| PDB (IMB) | 1QK9 3C2I 5BT2 |
| PDB (RSDB) | 1QK9 3C2I 5BT2 |
| Structural Biology KnowledgeBase | 1QK9 3C2I 5BT2 |
| SCOP (Structural Classification of Proteins) | 1QK9 3C2I 5BT2 |
| CATH (Classification of proteins structures) | 1QK9 3C2I 5BT2 |
| 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 heterochromatin gamma-tubulin complex transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding 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 chromatin binding transcription corepressor activity RNA binding mRNA binding protein binding extracellular space nucleus mitochondrion centrosome 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 cellular biogenic amine metabolic process mitotic spindle organization synapse assembly respiratory gaseous exchange long-term memory protein localization transcription factor binding glucocorticoid metabolic process positive regulation of cell proliferation methyl-CpG binding adult locomotory behavior visual learning pathogenesis post-embryonic development double-stranded methylated DNA binding positive regulation of G2/M transition of mitotic cell cycle 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 cardiolipin metabolic process negative regulation of histone acetylation social behavior siRNA binding neuron maturation histone deacetylase binding negative regulation of neuron apoptotic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding catecholamine secretion negative regulation of smooth muscle cell differentiation positive regulation of synapse assembly excitatory postsynaptic potential long-term synaptic potentiation positive regulation of microtubule nucleation postsynapse positive regulation of histone H3-K9 trimethylation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation |
| Ontology : EGO-EBI | negative regulation of transcription from RNA polymerase II promoter heterochromatin gamma-tubulin complex transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding 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 chromatin binding transcription corepressor activity RNA binding mRNA binding protein binding extracellular space nucleus mitochondrion centrosome 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 cellular biogenic amine metabolic process mitotic spindle organization synapse assembly respiratory gaseous exchange long-term memory protein localization transcription factor binding glucocorticoid metabolic process positive regulation of cell proliferation methyl-CpG binding adult locomotory behavior visual learning pathogenesis post-embryonic development double-stranded methylated DNA binding positive regulation of G2/M transition of mitotic cell cycle 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 cardiolipin metabolic process negative regulation of histone acetylation social behavior siRNA binding neuron maturation histone deacetylase binding negative regulation of neuron apoptotic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylcholine metabolic process protein N-terminus binding catecholamine secretion negative regulation of smooth muscle cell differentiation positive regulation of synapse assembly excitatory postsynaptic potential long-term synaptic potentiation positive regulation of microtubule nucleation postsynapse positive regulation of histone H3-K9 trimethylation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation |
| 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 |
| HOVERGEN | P51608 |
| HOGENOM | P51608 |
| 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 and Copy number 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] |
| DECIPHER | MECP2 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | MECP2 |
| 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 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | 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 |
| LOVD (Leiden Open Variation Database) | SpainMDB |
| 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 |
| Cancer3D | MECP2(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 300005 300055 300260 300496 300673 312750 |
| Orphanet | 91 1190 2764 3256 3164 18656 |
| Medgen | MECP2 |
| Genetic Testing Registry | MECP2
|
| NextProt | P51608 [Medical] |
| TSGene | 4204 |
| GENETests | MECP2 |
| Target Validation | MECP2 |
| Huge Navigator |
MECP2 [HugePedia] |
| snp3D : Map Gene to Disease | 4204 |
| BioCentury BCIQ | MECP2 |
| ClinGen | MECP2 (curated) |
| 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 | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | MECP2 |
| EVEX | MECP2 |
| GoPubMed | MECP2 |
| iHOP | MECP2 |
