MBD1
Homo sapiens
Gene Name: methyl-CpG binding domain protein 1
Aliases: RFT; PCM1; CXXC3
Chromosome No: 18
Chromosome Band: 18q21.1
Genetic Category: Rare Single Gene variant-Rare Single Gene variant, Genetic Association
Aliases: RFT; PCM1; CXXC3
Chromosome No: 18
Chromosome Band: 18q21.1
Genetic Category: Rare Single Gene variant-Rare Single Gene variant, Genetic Association
Summary Statistics:
ASD Reports: 8
Recent Reports: 3
Annotated variants: 13
Associated CNVs: 5
Evidence score: 2
ASD Reports: 8
Recent Reports: 3
Annotated variants: 13
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association and rare variants have been found in the MBD1 gene associated with autism in a Caucasian and African-American cohort (Cukier et al., 2010).
Molecular Function
The encoded protein binds specifically to methylated DNA and can repress transcription
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutation analysis of methyl-CpG binding protein family genes in autistic patients.
ASD
Support
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
ASD
Highly Cited
DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein.
Highly Cited
Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA.
Recent Recommendation
Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity.
Recent Recommendation
Methyl-CpG-Binding Protein MBD1 Regulates Neuronal Lineage Commitment through Maintaining Adult Neural Stem Cell Identity.
Recent Recommendation
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN152R002
missense_variant
c.440G>A
p.Arg147Lys
Familial
Paternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN152C002
missense_variant
rs125555
c.1201C>G;c.1276C>G;c.1273C>G;c.1108C>G;c.1051C>G;c.1033C>G;c.1132C>G;c.1054C>G;c.1354C>G;c.1279C>G;
p.Pro401Ala
Discovery
GEN152C003
synonymous_variant
rs72923678
c.1950C>T;c.*32+1822C>T;c.1629-1984C>T;c.*364C>T;c.*29C>T;c.*204C>T;c.1743C>T;c.2103C>T;c.2028C>T;c.
p.(=)
Discovery
GEN152C004
500B_downstream_variant, intron_variant, 3_prime_UTR_variant
rs11663629
c.*370G>T;c.*33-1596G>T;c.1629-1596G>T;c.*752G>T;c.*417G>T;c.*592G>T;c.1932-1596G>T;c.1887-1596G>T;c
Discovery
