geno logo
     HELP     Sign In

Quick Links

TOOLS
Search

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
Global developmental delay with speech and behavio
ADHD, ID
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD
Epilepsy/seizures
Support
Developmental language disorder
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Exome-wide screening identifies novel rare risk variants for major depression disorder
MDD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Recent Recommendation
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
DD, ID
ASD, ADHD
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.Lys451ArgfsTer51 
 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.565+2806_565+2811delinsGGGGGGG 
  
 De novo 
  
  
 GEN653R005 
 splice_site_variant 
 c.46-2A>G 
  
 Familial 
 Paternal 
 Simplex 
 GEN653R006 
 stop_gained 
 c.1879C>T 
 p.Gln627Ter 
 De novo 
  
 Simplex 
 GEN653R007 
 frameshift_variant 
 c.2455dup 
 p.Arg819LysfsTer18 
 De novo 
  
 Simplex 
 GEN653R008 
 missense_variant 
 c.3316G>A 
 p.Asp1106Asn 
 Familial 
 Maternal 
 Simplex 
 GEN653R009 
 frameshift_variant 
 c.566-3251_566-3250del 
  
 Unknown 
  
  
 GEN653R010 
 stop_gained 
 c.933G>A 
 p.Trp311Ter 
 De novo 
  
 Simplex 
 GEN653R011 
 stop_gained 
 c.3964C>T 
 p.Gln1322Ter 
 Familial 
 Paternal 
  
 GEN653R012 
 splice_site_variant 
 c.566-3084T>C 
  
 Familial 
 Maternal 
 Multiplex 
 GEN653R013 
 stop_gained 
 c.3967C>T 
 p.Gln1323Ter 
 De novo 
  
 Simplex 
 GEN653R014 
 frameshift_variant 
 c.3148_3151del 
 p.Asn1050SerfsTer8 
 De novo 
  
 Unknown 
 GEN653R015 
 stop_gained 
 c.3343C>T 
 p.Arg1115Trp 
 Unknown 
  
 Unknown 
 GEN653R016 
 splice_site_variant 
 c.1021+5G>C 
  
 De novo 
  
 Simplex 
 GEN653R017 
 stop_gained 
 c.2039G>A 
 p.Trp680Ter 
 De novo 
  
 Unknown 
 GEN653R018 
 missense_variant 
 c.4070T>A 
 p.Val1357Glu 
 De novo 
  
 Unknown 
 GEN653R019 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN653R020 
 frameshift_variant 
 c.566-3903_566-3902del 
  
 De novo 
  
 Simplex 
 GEN653R021 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN653R022 
 stop_gained 
 c.3943C>T 
 p.Arg1315Ter 
 Unknown 
 Not maternal 
 Simplex 
 GEN653R023 
 frameshift_variant 
 c.830_836del 
 p.Asn277MetfsTer3 
 De novo 
  
 Simplex 
 GEN653R024 
 missense_variant 
 c.566-3217G>A 
  
 De novo 
  
  
 GEN653R025 
 frameshift_variant 
 c.3799_3800del 
 p.Ala1267HisfsTer130 
 Unknown 
  
  
 GEN653R026 
 missense_variant 
 c.3785C>T 
 p.Ser1262Phe 
 Familial 
 Maternal 
  
 GEN653R027 
 missense_variant 
 c.4612C>T 
 p.Pro1538Ser 
 Familial 
 Maternal 
 Simplex 
 GEN653R028 
 missense_variant 
 c.229G>A 
 p.Glu77Lys 
 Familial 
 Paternal 
  
 GEN653R029 
 missense_variant 
 c.749G>T 
 p.Trp250Leu 
 Unknown 
  
  
 GEN653R030 
 missense_variant 
 c.2522G>A 
 p.Arg841His 
 Unknown 
  
  
 GEN653R031 
 missense_variant 
 c.750G>T 
 p.Trp250Cys 
 Unknown 
  
  
 GEN653R032 
 missense_variant 
 c.750G>T 
 p.Trp250Cys 
 Unknown 
  
  
 GEN653R033 
 missense_variant 
 c.1174G>T 
 p.Gly392Cys 
 Unknown 
  
  
 GEN653R034 
 missense_variant 
 c.566-3311G>A 
  
 Unknown 
  
 Simplex 
 GEN653R035 
 missense_variant 
 c.2386C>T 
 p.Arg796Cys 
 Unknown 
  
  
 GEN653R036 
 frameshift_variant 
 c.4980del 
 p.Asp1660GlufsTer5 
 Unknown 
  
  
 GEN653R037 
 frameshift_variant 
 c.565+3124del 
  
 Unknown 
  
  
 GEN653R038 
 frameshift_variant 
 c.565+3237del 
  
 Unknown 
  
  
 GEN653R039 
 frameshift_variant 
 c.566-3961_566-3960del 
  
 Unknown 
  
  
 GEN653R040 
 frameshift_variant 
 c.153_154insTTTGGAA 
 p.Lys52PhefsTer10 
 Unknown 
  
  
 GEN653R041 
 splice_site_variant 
 c.1170+1G>A 
  
 Unknown 
  
  
 GEN653R042 
 stop_gained 
 c.2539C>T 
 p.Pro847Ser 
 Unknown 
  
  
 GEN653R043 
 stop_gained 
 c.4015C>T 
 p.His1339Tyr 
 Unknown 
  
  
 GEN653R044 
 missense_variant 
 c.1183G>T 
 p.Gly395Cys 
 Unknown 
  
  
 GEN653R045 
 missense_variant 
 c.1183G>T 
 p.Gly395Cys 
 Unknown 
  
  
 GEN653R046 
 missense_variant 
 c.750G>C 
 p.Trp250Cys 
 Unknown 
  
  
 GEN653R047 
 missense_variant 
 c.4982G>C 
 p.Gly1661Ala 
 Unknown 
  
  
 GEN653R048 
 missense_variant 
 c.2819G>T 
 p.Ser940Ile 
 De novo 
  
 Simplex 
 GEN653R049a 
 missense_variant 
 c.2138G>C 
 p.Arg713Pro 
 Familial 
 Both parents 
 Multiplex 
 GEN653R050 
 stop_gained 
 c.3835C>T 
 p.Gln1279Ter 
 Unknown 
  
  
 GEN653R051 
 missense_variant 
 c.2320G>A 
 p.Glu774Lys 
 Unknown 
  
  
 GEN653R052 
 synonymous_variant 
 c.648C>G 
 p.Thr216%3D 
 De novo 
  
 Simplex 
 GEN653R053 
 missense_variant 
 c.1400G>A 
 p.Gly467Glu 
 De novo 
  
  
 GEN653R054 
 intron_variant 
 c.566-3575G>T 
  
 De novo 
  
  
 GEN653R055 
 missense_variant 
 c.2735A>C 
 p.Lys912Thr 
 De novo 
  
  
 GEN653R056 
 missense_variant 
 c.2722A>T 
 p.Asn908Tyr 
 Familial 
 Paternal 
  
 GEN653R057 
 frameshift_variant 
 c.830_836del 
 p.Asn277MetfsTer3 
 De novo 
  
 Simplex 
  et al.  
 GEN653R058 
 missense_variant 
 c.335C>T 
 p.Pro112Leu 
 De novo 
  
 Simplex 
  et al.  
 GEN653R059 
 frameshift_variant 
 c.565+3693del 
  
 De novo 
  
 Simplex 
  et al.  

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
 27
 
22
Duplication
 1
 
22
Duplication
 3
 

No Animal Model Data Available





Download TNRC6B's Cytoscape file

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

HELP
Copyright © 2017 MindSpec, Inc.