CSMD1
Homo sapiens
Gene Name: CUB and Sushi multiple domains 1
Aliases: UNQ5952/PRO19863, PPP1R24
Chromosome No: 8
Chromosome Band: 8p23.2
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: UNQ5952/PRO19863, PPP1R24
Chromosome No: 8
Chromosome Band: 8p23.2
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 19
Recent Reports: 0
Annotated variants: 40
Associated CNVs: 9
Evidence score: 4
ASD Reports: 19
Recent Reports: 0
Annotated variants: 40
Associated CNVs: 9
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
Potentially damaging heterozygous missense variants in the CSMD1 gene were identified in affected members of two extended multiplex ASD families (Cukier et al., 2014).
Molecular Function
Weakly expressed in most tissues, except in brain (expressed at intermediate levels in brain, including cerebellum, substantia nigra, hippocampus, and fetal brain). Variants in this gene have been shown to associate with schizophrenia and bipolar disorder.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN596R001
missense_variant
c.6784C>G
p.Pro2262Ala
Familial
Extended multiplex (at least one pair of ASD affec
GEN596R002
missense_variant
c.2480G>A
p.Gly827Asp
Familial
Extended multiplex (at least one pair of ASD affec
GEN596R004
missense_variant
c.4120G>A
p.Gly1374Ser
Familial
Paternal
Multiplex
GEN596R035
frameshift_variant
c.6913del
p.Gln2305SerfsTer84
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN596C001
intergenic_variant
rs2733052
166 Japanese ASD probands, 642 healthy Japanese controls
Discovery
GEN596C002
intron_variant
rs139425113
c.415+96863_415+96864insT
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
