ROBO1
Homo sapiens
Gene Name: roundabout, axon guidance receptor, homolog 1 (Drosophila)
Aliases: SAX3, DUTT1, FLJ21882, MGC131599, MGC133277
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Functional-Rare single gene variant-Rare single gene variant/multigenic CNV
Aliases: SAX3, DUTT1, FLJ21882, MGC131599, MGC133277
Chromosome No: 3
Chromosome Band: 3p12.3
Genetic Category: Functional-Rare single gene variant-Rare single gene variant/multigenic CNV
Summary Statistics:
ASD Reports: 15
Recent Reports: 3
Annotated variants: 15
Associated CNVs: 5
Evidence score: 3
ASD Reports: 15
Recent Reports: 3
Annotated variants: 15
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Differential expression of the ROBO1 gene has been shown to occur in some autistic individuals (Hu et al., 2006). Recently, a de novo synonymous variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012).
Molecular Function
The encoded protein is an axon guidance receptor and a cell adhesion receptor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Specific language impairment
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
ASD
ID, epilepsy/seizures
Highly Cited
Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene.
Recent Recommendation
Promoter hypermethylation-mediated inactivation of multiple Slit-Robo pathway genes in cervical cancer progression.
Recent Recommendation
Robo1 regulates the development of major axon tracts and interneuron migration in the forebrain.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN218R005
missense_variant
c.3959G>T
p.Arg1320Leu
De novo
Unknown
GEN218R006
intron_variant
c.55+25128C>T
De novo
Unknown
GEN218R008
frameshift_variant
c.1454del
p.Gly485ValfsTer39
Familial
Paternal
Simplex
Common
No Common Variants Available
