KRR1
Homo sapiens
Gene Name: KRR1, small subunit (SSU) processome component, homolog (yeast)
Aliases: HRB2, RIP-1
Chromosome No: 12
Chromosome Band: 12q21.2
Genetic Category: Genetic association-Rare single gene variant
Aliases: HRB2, RIP-1
Chromosome No: 12
Chromosome Band: 12q21.2
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two SNPs within 100 kb of the KRR1 gene (one intronic, one 500B downstream of the gene) showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Molecular Function
The protein encoded by the KRR1 gene is required for 40S ribosome biogenesis and is involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN779R001
frameshift_variant
c.567_568del
p.Val190PhefsTer7
Familial
Maternal
Multiplex
GEN779R002
frameshift_variant
c.939_940insGAGA
p.Gln314GlufsTer13
De novo
Multiplex
GEN779R003
splice_site_variant
c.661-2_661-1insTTTA
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN779C001
500B_downstream_variant
rs3741496
c.*2336A>G
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
GEN779C002
intron_variant
rs1051446
c.1004-383A>G
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
