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Relevance to Autism

A de novo nonsense variant in the LEO1 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014; additional de novo variants in this gene were observed in individuals from the Deciphering Developmental Disorders study in 2017. Paternally-inherited deletions of the LEO1 promoter were detected in three affected individuals (one trio and one concordant sib pair) in Brandler et al., 2018; fibroblast cell lines derived from the concordant sib pair displayed increased LEO1 expression compared to control lines (p = 0.018).

Molecular Function

Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Prevalence and architecture of de novo mutations in developmental disorders
DD
Recent Recommendation
Paternally inherited cis-regulatory structural variants are associated with autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1013R001 
 stop_gained 
 c.1663C>T 
 p.Arg555Ter 
 De novo 
 NA 
  
 GEN1013R002 
 frameshift_variant 
 c.1143del 
 p.Leu382SerfsTer3 
 De novo 
 NA 
  
 GEN1013R003 
 missense_variant 
 c.1148G>T 
 p.Ser383Ile 
 De novo 
 NA 
  
 GEN1013R004 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN1013R005 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN1013R006 
 missense_variant 
 c.1233G>C 
 p.Arg411Ser 
 De novo 
 NA 
  
 GEN1013R007 
 missense_variant 
 c.1624C>T 
 p.Arg542Cys 
 Familial 
 Maternal 
  
 GEN1013R008 
 missense_variant 
 c.1460C>T 
 p.Thr487Met 
 Unknown 
  
  
 GEN1013R009 
 missense_variant 
 c.1444C>G 
 p.Arg482Gly 
 Unknown 
  
  
 GEN1013R010 
 missense_variant 
 c.190G>T 
 p.Asp64Tyr 
 Unknown 
  
  
 GEN1013R011 
 missense_variant 
 c.1642C>T 
 p.Arg548Cys 
 Unknown 
  
  
 GEN1013R012 
 missense_variant 
 c.24C>G 
 p.Phe8Leu 
 Unknown 
  
  
 GEN1013R013 
 stop_gained 
 c.1276C>T 
 p.Arg426Ter 
 Unknown 
  
  
 GEN1013R014 
 stop_gained 
 c.187G>T 
 p.Gly63Ter 
 Unknown 
 Not maternal 
  
 GEN1013R015 
 missense_variant 
 c.1660C>T 
 p.Arg554Cys 
 Unknown 
  
  
 GEN1013R016 
 missense_variant 
 c.30C>A 
 p.Ser10Arg 
 Unknown 
  
  
 GEN1013R017 
 missense_variant 
 c.1624C>G 
 p.Arg542Gly 
 Unknown 
  
  
 GEN1013R018 
 missense_variant 
 c.1624C>G 
 p.Arg542Gly 
 Unknown 
  
  
 GEN1013R019 
 missense_variant 
 c.190G>T 
 p.Asp64Tyr 
 Unknown 
  
  
 GEN1013R020 
 missense_variant 
 c.190G>T 
 p.Asp64Tyr 
 Unknown 
  
  
 GEN1013R021 
 missense_variant 
 c.1687C>T 
 p.Arg563Trp 
 Unknown 
  
  
 GEN1013R022 
 missense_variant 
 c.992C>T 
 p.Pro331Leu 
 Unknown 
  
  
 GEN1013R023 
 missense_variant 
 c.959A>G 
 p.Asp320Gly 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 2
 
15
Deletion
 1
 
15
Duplication
 1
 

No Animal Model Data Available

 

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