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Relevance to Autism

In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that item 85 (faints, fits, or blackouts referring to an unexplained change in level of consciousness with or without falling or jerking movements of the limbs) on the Autism Diagnostic Interview-Related (ADIR is significantly associated with the NELL1 gene (Connolly et al., 2012).

Molecular Function

This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN440R001 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN440C001 
 intron_variant 
 rs1429793 
 c.688-13472G>T;c.433-13472G>T;c.604-13472G>T 
  
 Discovery cohort: 2165 participants from AGRE 
 Discovery 
 GEN440C002 
 intron_variant 
 rs1429793 
 c.688-13472G>T;c.433-13472G>T;c.604-13472G>T 
  
 Replication cohort: 1168 families from the Autism Genome Project (AGP) 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 18
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Deletion
 1
 
11
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C10ORF88 chromosome 10 open reading frame 88 80007 Q9H8K7 IP; LC-MS/MS
Huttlin EL , et al. 2015
C4ORF48 Neuropeptide-like protein C4orf48 401115 Q5BLP8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHEK1 checkpoint kinase 1 1111 O14757 IP; LC-MS/MS
Huttlin EL , et al. 2015
EGFL7 EGF-like-domain, multiple 7 51162 Q9UHF1 IP; LC-MS/MS
Huttlin EL , et al. 2015
EMILIN2 elastin microfibril interfacer 2 84034 Q9BXX0 IP; LC-MS/MS
Huttlin EL , et al. 2015
FBLN1 fibulin 1 2192 P23142 IP; LC-MS/MS
Huttlin EL , et al. 2015
FBXO27 F-box only protein 27 126433 Q8NI29 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIAA1712 centrosomal protein 44kDa NM_001040157 Q9C0F1 IP; LC-MS/MS
Huttlin EL , et al. 2015
LAMB2 laminin, beta 2 (laminin S) 3913 P55268 IP; LC-MS/MS
Huttlin EL , et al. 2015
LTBP4 latent transforming growth factor beta binding protein 4 8425 Q8N2S1 IP; LC-MS/MS
Huttlin EL , et al. 2015
MATN2 matrilin 2 4147 O00339 IP; LC-MS/MS
Huttlin EL , et al. 2015
MBD1 methyl-CpG binding domain protein 1 4152 Q9UIS9 Y2H
Sakai Y , et al. 2011
OBSL1 obscurin-like 1 23363 O75147 IP; LC-MS/MS
Huttlin EL , et al. 2015
PFKP phosphofructokinase, platelet 5214 B3KS15 IP; LC-MS/MS
Huttlin EL , et al. 2015
POLRMT polymerase (RNA) mitochondrial (DNA directed) 5442 O00411 IP; LC-MS/MS
Huttlin EL , et al. 2015
PXDN peroxidasin homolog (Drosophila) 7837 Q92626 IP; LC-MS/MS
Huttlin EL , et al. 2015
ROBO3 roundabout guidance receptor 3 64221 Q96MS0 Cell surface binding assay
Jaworski A , et al. 2015
TIMP3 TIMP metallopeptidase inhibitor 3 7078 P35625 IP; LC-MS/MS
Huttlin EL , et al. 2015
TP53RK TP53 regulating kinase 112858 Q96S44 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRMT2B tRNA methyltransferase 2 homolog B (S. cerevisiae) 79979 Q96GJ1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 127253 Q6IPR3 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF260 zinc finger protein 260 339324 Q3ZCT1 IP; LC-MS/MS
Huttlin EL , et al. 2015

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