TAF1L
Homo sapiens
Gene Name: TAF1 RNA polymerase II
Aliases: TAF2A2
Chromosome No: 9
Chromosome Band: 9p21.1
Genetic Category: Rare Single Gene variant
Aliases: TAF2A2
Chromosome No: 9
Chromosome Band: 9p21.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A de novo variant was identified in the 3'UTR of the TAF1L gene in an autistic proband (O'Roak et al., 2011). Other missense and 3'UTR variants were seen in controls and 1000 Genomes samples.
Molecular Function
Acts as a function substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis.
Recent Recommendation
Cooperative binding of two acetylation marks on a histone tail by a single bromodomain.