SLFN5
Homo sapiens
Gene Name: schlafen family member 5
Aliases:
Chromosome No: 17
Chromosome Band: 17q12
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 17
Chromosome Band: 17q12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 1
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified SLFN5 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. De novo missense variants in this gene have also been observed in three ASD probands (Iossifov et al., 2014; Yuen et al., 2017; Zhou et al., 2022).
Molecular Function
The protein encoded by this gene is predicted to enable ATP binding activity and to be involved in cell differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1413R001
frameshift_variant
c.60dup
p.Val21SerfsTer21
Familial
Maternal
Multiplex
GEN1413R003
frameshift_variant
c.1149_1152del
p.Asp383GlufsTer23
Familial
Paternal
Multiplex
GEN1413R004
frameshift_variant
c.2074_2075insAA
p.Ser692LysfsTer28
Familial
Maternal
Multiplex
GEN1413R005
frameshift_variant
c.2074_2075insAA
p.Ser692LysfsTer28
Familial
Paternal
Multiplex
Common
No Common Variants Available
