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Relevance to Autism

A de novo loss-of-function (LoF) variant in the PLXNB1 gene was first identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). A second ASD-associated de novo LOF variant was identified in a proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.

Molecular Function

Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN872R001 
 frameshift_variant 
 c.4334del 
 p.Leu1445ArgfsTer75 
 De novo 
 NA 
  
 GEN872R002 
 missense_variant 
 c.1148C>T 
 p.Pro383Leu 
 De novo 
 NA 
 Simplex 
 GEN872R003 
 missense_variant 
 c.3665G>T 
 p.Arg1222Leu 
 De novo 
 NA 
 Simplex 
 GEN872R004 
 stop_gained 
 c.4318C>T 
 p.Pro1440Ser 
 De novo 
 NA 
  
 GEN872R005 
 missense_variant 
 c.3091C>T 
 p.Arg1031Cys 
 De novo 
 NA 
 Simplex 

Common

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

Model Summary

Both PlexB mutants' initial jump response was impaired.

References

Type
Title
Author, Year
Primary
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

F_PLEXB_1_KD_GAL4:UAS;RNAI-VDRC46687

Model Type: Genetic
Model Genotype: Wild type
Mutation: PlexB-Gal4 driver line expressing UAS-PlexB-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_PLEXB_2_KD_GAL4:UAS;RNAI-VDRC27219

Model Type: Genetic
Model Genotype: Wild type
Mutation: PlexB-Gal4 driver line expressing UAS-PlexB-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_PLEXB_1_KD_GAL4:UAS;RNAI-VDRC46687

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Startle response1
Decreased
Description: When challenged in the light-off jump paradigm, the mutants' initial jump response was impaired (11% frequency of initial jumping), thus precluding proper assessment of habituation.
 Light-off startle jump
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_PLEXB_2_KD_GAL4:UAS;RNAI-VDRC27219

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Startle response1
Decreased
Description: When challenged in the light-off jump paradigm, the mutants' initial jump response was impaired (42% frequency of initial jumping), thus precluding proper assessment of habituation.
 Light-off startle jump
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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