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Relevance to Autism

A paternally-inherited deletion of the CNTN5 gene co-segregated with ASD in a multiplex family with three affected male children (van Daalen et al., 2011)

Molecular Function

Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
ASD
Positive Association
A candidate gene association study further corroborates involvement of contactin genes in autism.
ASD
Positive Association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
Negative Association
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contacti...
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN385R001 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN385R002 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN385R003 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN385R004 
 missense_variant 
 c.970G>A 
 p.Ala324Thr 
 De novo 
  
  
 GEN385R005 
 missense_variant 
 c.2368T>A 
 p.Leu790Ile 
 Familial 
  
 Extended multiplex (at least one pair of ASD affec 
 GEN385R006 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN385R007 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN385R008 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN385R009 
 missense_variant 
 G>T 
 p.Asp242Tyr 
 Familial 
 Maternal 
 Simplex 
 GEN385R010 
 missense_variant 
 C>T 
 p.Leu254Phe 
 Familial 
 Paternal 
 Simplex 
 GEN385R011 
 missense_variant 
 c.1015G>A 
 p.Gly339Ser 
 Familial 
 Paternal 
 Simplex 
 GEN385R012 
 missense_variant 
 c.1091C>T 
 p.Ala364Val 
 Familial 
 Maternal 
 Simplex 
 GEN385R013 
 missense_variant 
 T>C 
 p.Ile528Thr 
 Familial 
 Maternal 
 Simplex 
 GEN385R014 
 missense_variant 
 c.2415A>C 
 p.Glu805Asp 
 Familial 
 Maternal 
 Multiplex 
 GEN385R015 
 missense_variant 
 c.2510G>A 
 p.Arg837Gln 
 Familial 
 Maternal 
 Simplex 
 GEN385R016 
 missense_variant 
 c.2651C>T 
 p.Ala884Val 
 Familial 
 Paternal 
 Multi-generational 
 GEN385R017 
 missense_variant 
 c.2696T>C 
 p.Ile899Thr 
 Familial 
 Maternal 
 Simplex 
 GEN385R018 
 missense_variant 
 c.2798C>T 
 p.Ser933Phe 
 Familial 
 Maternal 
 Multiplex 
 GEN385R019 
 missense_variant 
 G>A 
 p.Val935Ile 
 Familial 
 Maternal 
 Simplex 
 GEN385R020 
 missense_variant 
 c.474T>G 
 p.Ile158Met 
 Familial (6 cases) 
 Paternal (2 cases), maternal (4 cases) 
 Unknown 
 GEN385R021 
 missense_variant 
 c.1588A>G 
 p.Ile530Val 
 Unknown 
  
 Unknown 
 GEN385R022 
 missense_variant 
 c.2368T>A 
 p.Leu790Ile 
 Familial 
 Paternal (4 cases), maternal (2 cases) 
 Unknown 
 GEN385R023 
 missense_variant 
 c.2611G>C 
 p.Ala871Pro 
 Unknown 
  
 Unknown 
 GEN385R024 
 missense_variant 
 c.3235T>A 
 p.Ser1079Thr 
 Unknown 
  
 Unknown 
 GEN385R025 
 missense_variant 
 c.3194A>T 
 p.Tyr1065Phe 
 Familial 
 Maternal 
 Unknown 
 GEN385R026 
 intergenic_variant 
 delACAC 
  
  
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN385C001 
 intron_variant 
 rs6590473 
 c.878-20611T>C;c.656-20611T>C 
 Allele 1, G; allele 2, A 
 67 ASD patients and 117 healthy controls 
 Discovery 
 GEN385C002 
 intron_variant 
 rs1035339 
 c.878-6106C>T;c.656-6106C>T 
  
 67 ASD patients and 117 healthy controls 
 Discovery 
 GEN385C003 
 intron_variant 
 rs1453576 
 c.674-8709A>C;c.452-8709A>C 
 C/A 
 67 ASD patients and 117 healthy controls 
 Discovery 
 GEN385C004 
 intron_variant 
 rs7942402 
 c.56-96487G>T;c.56-121795G>T;c.56-121796G>T 
 Allele 1, C; allele 2, A 
 67 ASD patients and 117 healthy controls 
 Discovery 
 GEN385C005 
 intron_variant 
 rs6590446 
 c.674-15646C>T;c.452-15646C>T 
 Allele 1, A; allele 2, G 
 67 ASD patients and 117 healthy controls 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion-Duplication
 2
 
11
Deletion
 1
 
11
Deletion-Duplication
 16
 
11
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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