ASB11
Homo sapiens
Gene Name: ankyrin repeat and SOCS box containing 11
Aliases:
Chromosome No: X
Chromosome Band: Xp22.2
Genetic Category: Functional-Rare single gene variant-Genetic association/Rare single gene variant
Aliases:
Chromosome No: X
Chromosome Band: Xp22.2
Genetic Category: Functional-Rare single gene variant-Genetic association/Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 13
Evidence score: null
ASD Reports: 5
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 13
Evidence score: null
| Associated Disorders: |
|
Relevance to Autism
An X-chromosome-wide association (XWAS) study of 6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females) in Mendes et al., 2024 identified 18 SNPs in the ASB11 gene that reached the significance threshold for association (P < 7.9E-06) in a sex-stratified male-XWAS analysis. Furthermore, rare predicted damaging SNVs (<0.1% frequency in gnomAD) in the ASB11 gene were found to have a statistically significant (p < 0.05) higher frequency in ASD cases (females and both sexes combined) from MSSNG, SSC, and SPARK compared to other family members.
Molecular Function
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Previous studies in zebrafish, rat neuronal progenitor cells, and human pluripotent embryonic carcinoma cells have implicated ASB11 in the regulation in neurogenesis (Diks et al., 2006; Sartori da Silva et al., 2010).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Chromosome X-wide common variant association study in autism spectrum disorder
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Essential role for the d-Asb11 cul5 Box domain for proper notch signaling and neural cell fate decisions in vivo
Support
The novel gene asb11: a regulator of the size of the neural progenitor compartment
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
GEN1491C001
intron_variant
rs6632183
c.848-215G>T/c.848-215G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C002
intron_variant
rs7049370
c.848-2014C>T
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C003
intron_variant
rs5935926
c.847+722T>C
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C004
intron_variant
rs5935927
c.847+478G>T/c.847+478G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C005
intron_variant
rs5935929
c.655+135C>T/c.655+135C>G
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C006
intron_variant
rs5935930
c.655+63A>T/c.655+63A>G
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C007
intron_variant
rs6628945
c.520+1611G>T/c.520+1611G>C/c.520+1611G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C008
intron_variant
rs5934231
c.520+1406G>T/c.520+1406G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C009
intron_variant
rs6628949
c.370-698C>T/c.370-698C>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C010
intron_variant
rs5935933
c.370-1067C>T/c.370-1067C>G
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C011
intron_variant
rs5008833
c.370-1291G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C012
intron_variant
rs5901555
c.370-1566GA[3]
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C013
intron_variant
rs5935936
c.369+918G>C/c.369+918G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C014
intron_variant
rs5935937
c.261+2485C>T
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C015
intron_variant
rs12690160
c.261+1823C>T
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C016
intron_variant
rs5935938
c.261+1514A>G/c.261+1514A>C
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C017
intron_variant
rs6632267
c.182-4641G>C/c.182-4641G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
GEN1491C018
intron_variant
rs5935943
c.181+4443G>A
6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females)
Discovery
