SCAF4
Homo sapiens
Gene Name: SR-related CTD associated factor 4
Aliases: SFRS15, SRA4
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Rare single gene variant-Syndromic
Aliases: SFRS15, SRA4
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 4
Evidence score: 3
ASD Reports: 6
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Fliedner et al., 2020 described eleven individuals with heterozygous SCAF4 variants that presented with a neurodevelopmental disorder characterized by developmental delay and intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies; five individuals in this cohort were reported to have autism, while an additional two individuals presented with autistic features.
Molecular Function
This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
DD, ID
ASD or autistic features, epilepsy/seizures
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1203R002
frameshift_variant
c.408_411del
p.Asn136LysfsTer8
De novo
Simplex
GEN1203R010
frameshift_variant
c.3155_3156del
p.Glu1052ValfsTer3
Unknown
Multiplex
Common
No Common Variants Available
