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Relevance to Autism

Rare mutations in the GNB1L gene, including a translocation, duplications and missense variants, have been identified in patients with ASD (Chen et al., 2011).

Molecular Function

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. Transcripts from this gene share exons with some transcripts from the C22orf29 gene.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Evidence for involvement of GNB1L in autism.
ASD
Positive Association
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN304R001 
 translocation 
  
  
 Familial 
 Paternal 
  
 GEN304R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN304R003 
 copy_number_gain 
  
  
 De novo 
  
 Multiplex 
 GEN304R004 
 missense_variant 
 c.262C>T 
 p.Arg88Trp 
 Familial 
 Paternal 
 Multiplex 
 GEN304R005 
 missense_variant 
 c.848G>A 
 p.Arg283Gln 
 Familial 
 Maternal 
 Multiplex 
 GEN304R006 
 missense_variant 
 c.868G>T 
 p.Val290Met 
 Familial 
 Maternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN304C001 
 intron_variant 
 rs11704083 
 c.-21+1553T>C 
  
 Simons Simplex Collection (SSC) GWAS dataset consisting of 2591 simplex ASD families 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 7
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 81
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ASPRV1 Retroviral-like aspartic protease 1 151516 Q53RT3 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCT3 chaperonin containing TCP1, subunit 3 (gamma) 7203 P49368 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCT7 chaperonin containing TCP1, subunit 7 (eta) 10574 Q99832 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CNPY2 canopy 2 homolog (zebrafish) 10330 Q9Y2B0 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GAS2L1 VASH1 10634 A0A5E8 IP; LC-MS/MS
Huttlin EL , et al. 2015
GSTM3 glutathione S-transferase mu 3 (brain) 2947 P21266 IP; LC-MS/MS
Huttlin EL , et al. 2015
KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 3762 P48544 IP; LC-MS/MS
Huttlin EL , et al. 2015
NRF1 nuclear respiratory factor 1 4899 Q16656 ChIP-Seq
Satoh J , et al. 2013
PDDC1 Parkinson disease 7 domain containing 1 347862 Q8NB37 IP; LC-MS/MS
Huttlin EL , et al. 2015
RABGGTB Rab geranylgeranyltransferase, beta subunit 5876 P53611 IP; LC-MS/MS
Huttlin EL , et al. 2015
TEKT2 Tektin-2 27285 Q9UIF3 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010

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