TAF1C
Homo sapiens
Gene Name: TATA-box binding protein associated factor, RNA polymerase I subunit C
Aliases: MGC:39976, SL1, TAFI110, TAFI95
Chromosome No: 16
Chromosome Band: 16q24.1
Genetic Category: Genetic association-Rare single gene variant
Aliases: MGC:39976, SL1, TAFI110, TAFI95
Chromosome No: 16
Chromosome Band: 16q24.1
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A SNP within the TAF1C gene showed association (P=2.910E-07) in the primary analyses of the combined Autism Genome Project genome-wide association sample (diagnosis: spectrum; ancestry: all) in Anney et al., 2012.
Molecular Function
Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN392C001
intron_variant, missense_variant
rs4150167
c.1489G>A;c.571G>A;c.340G>A;c.136G>A;c.1567G>A;c.1285G>A;c.1366G>A;c.1570G>A;c.1492G>A;c.1564+92G>A;
p.Gly497Arg;p.Gly191Arg;p.Gly114Arg;p.Gly46Arg;p.Gly523Arg;p.Gly429Argp.Gly456Arg;p.Gly524Arg;p.Gly4
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
