HELP     Sign In
Search

Relevance to Autism

De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b). A second de novo LoF variant in this gene was identified in a female patient presenting with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature(Lumish et al., 2015).

Molecular Function

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Whole exome sequencing in females with autism implicates novel and candidate genes.
ASD
Support
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Luscan-Lumish syndrome
ASD, DD, ID, macrocepahly
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
De novo mutations in schizophrenia implicate synaptic networks.
ASD
Support
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
Luscan-Lumish syndrome
ASD or autistic behavior
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Support
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
ASD, ID, epilepsy/seizures
Macrocephaly
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN474R001 
 frameshift_variant 
 c.6341del 
 p.Asn2114IlefsTer33 
 De novo 
 NA 
 Simplex 
 GEN474R002 
 missense_variant 
 c.121A>T 
 p.Ile41Phe 
 De novo 
 NA 
 Simplex 
 GEN474R003 
 stop_gained 
 c.19C>T 
 p.Gln7Ter 
 Familial 
 Maternal 
 Simplex 
 GEN474R004 
 stop_gained 
 c.1182T>A 
 p.Cys394Ter 
 Familial 
 Paternal 
 Simplex 
 GEN474R005 
 frameshift_variant 
 CTTCTTTCT>CTTCT 
  
 De novo 
 NA 
 Unknown 
 GEN474R006 
 missense_variant 
 G>T 
 p.Lys610O 
 Unknown 
  
 Multiplex 
 GEN474R007 
 frameshift_variant 
 c.2028del 
 p.Pro677LeufsTer19 
 De novo 
 NA 
 Simplex 
 GEN474R008 
 missense_variant 
 c.4686C>G 
 p.Phe1562Leu 
 Unknown 
  
 Unknown 
 GEN474R009 
 missense_variant 
 c.1463A>G 
 p.Tyr488Cys 
 Unknown 
  
 Unknown 
 GEN474R010 
 missense_variant 
  
 p.Ser2060Pro 
 Familial 
 Paternal 
 Multi-generational 
 GEN474R011 
 synonymous_variant 
 c.1986A>G 
 p.Gln662%3D 
 De novo 
 NA 
  
 GEN474R012 
 frameshift_variant 
 c.1462_1482delinsAC 
 p.Ser488ThrfsTer41 
 De novo 
 NA 
 Simplex 
 GEN474R013 
 frameshift_variant 
 c.6422del 
 p.Gly2141GlufsTer63 
 De novo 
 NA 
 Simplex 
 GEN474R014 
 frameshift_variant 
 c.7356dup 
 p.Lys2453GlufsTer13 
 De novo 
 NA 
 Multiplex 
 GEN474R015 
 stop_gained 
 c.4276A>T 
 p.Lys1426Ter 
 Unknown 
  
  
 GEN474R016 
 missense variant 
 c.4689G>A 
 p.Met1563Ile 
 Unknown 
 Not maternal 
  
 GEN474R017 
 stop_gained 
 c.6471T>A 
 p.Tyr2157Ter 
 De novo 
 NA 
  
 GEN474R018 
 missense_variant 
 c.4997A>G 
 p.Tyr1666Cys 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 14
 
3
Deletion
 13
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 9639 O15013 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARX aristaless related homeobox 170302 Q96QS3 Y2H
Sakai Y , et al. 2011
ATXN1 ataxin 1 6310 P54253 Y2H; IP/WB
Lim J , et al. 2006
AURKA aurora kinase A 6790 O14965 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
CIC capicua transcriptional repressor 23152 Q96RK0 Y2H; IP/WB
Lim J , et al. 2006
CLK2 CDC-like kinase 2 1196 P49760 IP; LC-MS/MS
Huttlin EL , et al. 2015
CPNE7 copine VII 27132 Q9UBL6 IP; LC-MS/MS
Huttlin EL , et al. 2015
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 RNP IP
Abdelmohsen K , et al. 2009
F9 Coagulation factor IX 2158 P00740 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
HNRPLL heterogeneous nuclear ribonucleoprotein L-like 92906 A8K894 IP; LC-MS/MS
Huttlin EL , et al. 2015
JMJD6 jumonji domain containing 6 23210 Q6NYC1 IP; LC-MS/MS
Huttlin EL , et al. 2015
NXF2 Nuclear RNA export factor 2 56001 Q9GZY0 IP; LC-MS/MS
Huttlin EL , et al. 2015
PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 5305 P48426 IP; LC-MS/MS
Huttlin EL , et al. 2015
RSBN1 round spermatid basic protein 1 54665 Q5VWQ0 IP; LC-MS/MS
Huttlin EL , et al. 2015
SCARA3 Scavenger receptor class A member 3 51435 Q6AZY7-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SHANK3 SH3 and multiple ankyrin repeat domains 3 85358 Q9BYB0 Y2H
Sakai Y , et al. 2011
SIAH2 siah E3 ubiquitin protein ligase 2 6478 O43255 Y2H
Wang J , et al. 2011
SMAD3 SMAD family member 3 4088 P84022 Y2H; IP/WB
Wang J , et al. 2011
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TUBA1A tubulin, alpha 1A 7846 Q71U36 IP/WB; in vitro binding assay; in vitro methylation assay
Park IY , et al. 2016
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
WDR37 WD repeat domain 37 22884 Q9Y2I8 IP; LC-MS/MS
Huttlin EL , et al. 2015

HELP
Copyright © 2017 MindSpec, Inc.