Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, EP, ADHD, CP
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- CTCF is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- FAP108, CFAP108
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder, Cerebral Palsy
|Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020|
|Gregor A et. al., De novo mutations in the genome organizer CTCF cause intellectual disability., Am J Hum Genet, 2013|
|Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014|
|et. al., , ,|
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