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Relevance to Autism

A de novo loss-of-function (LoF) variant in the DIP2C gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a simplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), DIP2C was determined to be an ASD candidate gene in Yuen et al., 2017.

Molecular Function

This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
Support
Developmental language disorder
Support
Integrating de novo and inherited variants in 42
ASD
Support
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Distur
ASD
DD, ID
Support
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
ASD
Recent Recommendation
DD
ASD, ADHD, ID, epilepsy/seizures
Recent Recommendation
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN883R001 
 frameshift_variant 
 c.1969dup 
 p.Ala657GlyfsTer12 
 De novo 
  
 Simplex 
 GEN883R002 
 frameshift_variant 
 c.2208_2209dup 
 p.Ala737ValfsTer15 
 De novo 
  
 Simplex 
 GEN883R003 
 frameshift_variant 
 c.636_637dup 
 p.Tyr213CysfsTer39 
 Familial 
  
 Simplex 
 GEN883R004 
 frameshift_variant 
 GA>G 
 p.Ser850ProfsTer10 
 De novo 
  
 Simplex 
 GEN883R005 
 missense_variant 
 c.757C>T 
 p.Arg253Trp 
 Familial 
 Maternal 
 Simplex 
 GEN883R006 
 synonymous_variant 
 c.4407C>T 
 p.Ser1469%3D 
 De novo 
  
  
 GEN883R007 
 missense_variant 
 c.4094C>T 
 p.Pro1365Leu 
 De novo 
  
  
 GEN883R008 
 missense_variant 
 c.3706A>C 
 p.Met1236Leu 
 De novo 
  
  
 GEN883R009 
 splice_region_variant 
 c.860-8C>T 
  
 De novo 
  
  
 GEN883R010 
 missense_variant 
 c.398C>G 
 p.Thr133Ser 
 De novo 
  
  
 GEN883R011 
 frameshift_variant 
 c.3062_3063insA 
 p.His1023ProfsTer70 
 Unknown 
  
 Multiplex 
  et al.  
 GEN883R012 
 stop_gained 
 c.820C>T 
 p.Arg274Ter 
 De novo 
  
 Simplex 
  et al.  
 GEN883R013 
 frameshift_variant 
 c.2130_2131dup 
 p.Ala711GlufsTer7 
 De novo 
  
 Unknown 
  et al.  
 GEN883R014 
 stop_gained 
 c.4615C>T 
 p.Arg1539Ter 
 Familial 
 Paternal 
  
  et al.  
 GEN883R015 
 stop_gained 
 c.3699C>G 
 p.Tyr1233Ter 
 De novo 
  
 Unknown 
  et al.  
 GEN883R016 
 stop_gained 
 c.1441C>T 
 p.Arg481Ter 
 De novo 
  
 Unknown 
  et al.  
 GEN883R017 
 frameshift_variant 
 c.2208_2209dup 
 p.Ala737ValfsTer15 
 Familial 
 Maternal 
  
  et al.  
 GEN883R018 
 stop_gained 
 c.3757C>T 
 p.Arg1253Ter 
 Familial 
 Maternal 
 Multiplex 
  et al.  
 GEN883R019 
 frameshift_variant 
 c.4028del 
 p.Leu1343ArgfsTer14 
 Familial 
 Maternal 
  
  et al.  
 GEN883R020 
 frameshift_variant 
 c.2208_2209del 
 p.Ala737SerfsTer19 
 De novo 
  
 Multiplex 
  et al.  
 GEN883R021 
 frameshift_variant 
 c.898dup 
 p.Ala300GlyfsTer84 
 De novo 
  
 Simplex 
  et al.  
 GEN883R022 
 missense_variant 
 c.217C>G 
 p.Arg73Gly 
 De novo 
  
 Simplex 
  et al.  
 GEN883R023 
 splice_site_variant 
 c.4362-1G>A 
 p.? 
 De novo 
  
 Simplex 
  et al.  
 GEN883R024 
 splice_site_variant 
 c.1598-2A>G 
  
 Familial 
 Paternal 
  
  et al.  
 GEN883R025 
 missense_variant 
 c.956C>T 
 p.Ser319Leu 
 De novo 
  
 Unknown 
  et al.  
 GEN883R026 
 splice_site_variant 
 c.4045-2A>G 
  
 Unknown 
  
 Multiplex 
  et al.  
 GEN883R027 
 splice_site_variant 
 c.1385-2A>G 
  
 De novo 
  
 Multiplex 
  et al.  
 GEN883R028 
 splice_region_variant 
 c.4045-5A>G 
  
 Familial 
 Maternal 
 Multiplex 
  et al.  
 GEN883R029 
 frameshift_variant 
 c.467dup 
 p.Ser157GlnfsTer53 
 Familial 
 Paternal 
  
  et al.  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Deletion-Duplication
 24
 
10
Duplication
 2
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Deletion
 3
 
10
Deletion-Duplication
 3
 
10
Deletion
 4
 
10
Duplication
 6
 
10
Deletion
 1
 

No Animal Model Data Available

 

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