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Relevance to Autism

Two de novo loss-of-function variants in the TNRC6B gene have been identified in ASD probands from the Simons Simplex Collection (refs).

Molecular Function

Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
ID
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
The contribution of de novo coding mutations to autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN653R001 
 frameshift_variant 
 c.1352_1355del 
 p.Lys451fs 
 De novo 
  
 Simplex 
 GEN653R002 
 stop_gained 
 c.2479C>T 
 p.Gln827Ter 
 De novo 
  
 Simplex 
 GEN653R003 
 stop_gained 
 c.3343C>T 
 p.Arg1115Ter 
 De novo 
  
  
 GEN653R004 
 frameshift_variant 
 c.749_755delGGGGGGAinsGGGGGGGA 
 p.Glu252GlyfsTer3 
 De novo 
  
  
 GEN653R005 
 splice_site_variant 
 c.46-2A>G 
 p.? 
 Familial 
 Paternal 
 Simplex 
 GEN653R006 
 stop_gained 
 c.1879C>T 
 p.Gln627Ter 
 De novo 
  
 Simplex 
 GEN653R007 
 frameshift_variant 
  
  
 De novo 
  
 Simplex 
 GEN653R008 
 missense_variant 
 c.3316G>A 
 p.Asp1106Asn 
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 
22
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AGO1 Argonaute-1 36544 Q32KD4 Y2H; GST; IP/WB
Till S , et al. 2007
APBA3 Amyloid beta A4 precursor protein-binding family A member 3 9546 O96018 MS; IP/WB
Li S , et al. 2014
BMI1 BMI1 polycomb ring finger oncogene 648 P35226 IP/WB; LC-MS/MS
Cao Q , et al. 2014
CAND1 cullin-associated and neddylation-dissociated 1 55832 Q86VP6 LC-MS/MS
Bennett EJ , et al. 2010
CARM1 coactivator-associated arginine methyltransferase 1 10498 Q86X55 MS; IP/WB
Li S , et al. 2014
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CHEK1 checkpoint kinase 1 1111 O14757 MS
Li S , et al. 2014
COPS5 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) 10987 Q92905 LC-MS/MS
Bennett EJ , et al. 2010
CSK c-src tyrosine kinase 1445 A8K3B6 MS; IP/WB
Li S , et al. 2014
CUL1 cullin 1 8454 Q13616 LC-MS/MS
Bennett EJ , et al. 2010
CUL2 cullin 2 8453 Q13617 LC-MS/MS
Bennett EJ , et al. 2010
CUL3 cullin 3 8452 B7Z600 LC-MS/MS
Bennett EJ , et al. 2010
DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 54165 Q96GG9 LC-MS/MS
Bennett EJ , et al. 2010
EIF2C1 Protein argonaute-1 26523 Q9UL18 Northern blot; Luciferase reporter assay; IP/WB
Y2H; GST; IP/WB
Baillat D and Shiekhattar R 2009
EIF2C2 eukaryotic translation initiation factor 2C, 2 27161 Q9UKV8 Northern blot; Luciferase reporter assay; IP/WB
Baillat D and Shiekhattar R 2009
EIF2C3 argonaute RISC catalytic component 3 192669 B4E1P5 GST; IP/WB; Protein microarray; MS
Weinmann L , et al. 2009
EIF2C4 argonaute RISC catalytic component 4 192670 Q9HCK5 GST; IP/WB; Protein microarray; MS
Weinmann L , et al. 2009
FBRS fibrosin 64319 Q9HAH7 MS
Li S , et al. 2014
FLAD1 FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) 80308 Q8NFF5 MS
Li S , et al. 2014
GARS glycyl-tRNA synthetase 2617 P41250 MS
Li S , et al. 2014
GIGYF2 GRB10 interacting GYF protein 2 26058 Q6Y7W6 SILAC/MS
Ash MR , et al. 2010
GMPS guanine monphosphate synthetase 8833 A8K639 MS
Li S , et al. 2014
LATS2 LATS, large tumor suppressor, homolog 2 (Drosophila) 26524 Q9NRM7 LC-MS/MS
Bennett EJ , et al. 2010
NEDD8 neural precursor cell expressed, developmentally down-regulated 8 4738 Q15843 LC-MS/MS
Bennett EJ , et al. 2010
NUP155 nucleoporin 155kDa 9631 O75694 MS
Li S , et al. 2014
PABPC1 poly(A) binding protein, cytoplasmic 1 26986 P11940 GST; IP/WB; Luciferase reporter assay
Huntzinger E , et al. 2010
PFAS phosphoribosylformylglycinamidine synthase 5198 O15067 MS
Li S , et al. 2014
SAV1 salvador homolog 1 (Drosophila) 60485 Q9H4B6 LC-MS/MS
Bennett EJ , et al. 2010
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TRIM65 tripartite motif containing 65 201292 Q6PJ69 MS
Li S , et al. 2014
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
UBQLN4 ubiquilin 4 56893 Q9NRR5 Y2H; IP/WB
Lim J , et al. 2006
APC adenomatous polyposis coli 324 P25054 HITS-CLIP
Preitner N , et al. 2014
ARX aristaless related homeobox 11878 O35085 ChIP-qPCR
Quill ML , et al. 2011
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011

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