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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
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
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
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.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN218R001 
 synonymous_variant 
 c.3162T>C 
 p.Asn1054%3D 
 De novo 
 NA 
 Simplex 
 GEN218R002 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN218R003 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN218R004 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN218R005 
 missense_variant 
 c.3959G>T 
 p.Arg1320Leu 
 De novo 
 NA 
 Unknown 
 GEN218R006 
 intron_variant 
 c.55+25128C>T 
  
 De novo 
 NA 
 Unknown 
 GEN218R007 
 missense_variant 
 c.701T>C 
 p.Val234Ala 
 Familial 
 Maternal 
 Simplex 
 GEN218R008 
 frameshift_variant 
  
 p.Gly521ValfsTer39 
 Familial 
 Paternal 
 Simplex 
 GEN218R009 
 missense_variant 
 c.3632A>C 
 p.Tyr1211Ser 
 De novo 
 NA 
 Multiplex 
 GEN218R010 
 stop_gained 
 c.811C>T 
 p.Arg271Ter 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 21
 
3
Deletion
 2
 
3
Deletion
 2
 
3
Duplication
 2
 
3
Deletion
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 81544 Q8WTR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
PRKACA protein kinase, cAMP-dependent, catalytic, alpha 5566 P17612 in vitro kinase assay
Samelson BK , et al. 2015

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