Summary Statistics:
Gene Score: S
Relevance to Autism
Phenotypic information from 23 individuals with de novo mutations or deletions of the YY1 gene was used to identify an intellectual disability syndrome characterized by behavioral abnormalities, intrauterine growth retardation, feeding problems, recurrent dysmorphic features, and various congenital malformations; two of the ten individuals with de novo YY1 mutations presented with autism or ASD (Gabriele et al., 2017). YY1 had previously been shown to interact with MECP2 (Forlani et al., 2010) and HCFC1 (Huang et al., 2012).
Molecular Function
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1.
References
Primary
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
ID
ASD
Support
DNA methylation episignature in Gabriele-de Vries syndrome
Gabriele-de Vries syndrome, DD, ID
ASD, ADHD, stereotypy
Support
Monogenic defects in Russian children with autism spectrum disorders
ASD
DD
Support
Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolesce...
ASD
Support
YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs
Gabriele-de Vries syndrome
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families
Gabriele-de Vries syndrome, ID, epilepsy/seizures
Support
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Support
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
Support
Integrating de novo and inherited variants in 42
ASD
GEN910R001
missense_variant
c.1138G>T
p.Asp380Tyr
De novo
GEN910R002
missense_variant
c.1097T>C
p.Leu366Pro
De novo
GEN910R003
missense_variant
c.1096C>G
p.Leu366Val
De novo
GEN910R004
stop_gained
c.1030C>T
p.Gln344Ter
De novo
GEN910R005
stop_gained
c.535A>T
p.Lys179Ter
De novo
GEN910R006
frameshift_variant
c.1173del
p.Asn391LysfsTer10
De novo
GEN910R007
inframe_deletion
c.1177_1179del
p.Lys393del
De novo
GEN910R008
frameshift_variant
c.385del
p.Asp129IlefsTer127
De novo
GEN910R009
missense_variant
c.1015A>C
p.Lys339Gln
De novo
GEN910R010
missense_variant
c.958C>T
p.His320Tyr
De novo
GEN910R011
copy_number_loss
De novo
GEN910R012
copy_number_loss
Unknown
GEN910R013
copy_number_loss
De novo
GEN910R014
copy_number_loss
De novo
GEN910R015
copy_number_loss
De novo
GEN910R016
copy_number_loss
De novo
GEN910R017
copy_number_loss
De novo
GEN910R018
copy_number_loss
De novo
GEN910R019
copy_number_loss
De novo
GEN910R020
copy_number_loss
De novo
GEN910R021
copy_number_loss
De novo
GEN910R022
copy_number_loss
De novo
GEN910R023
copy_number_loss
De novo
GEN910R024
frameshift_variant
c.679_679+1insATGAAAAAAAAGATATTGACCATGAGACA
p.Val237MetfsTer29
Familial
Maternal
Simplex
GEN910R025
missense_variant
c.961G>A
p.Gly321Ser
De novo
Simplex
GEN910R026
missense_variant
c.1007A>G
p.Glu336Gly
De novo
GEN910R027
missense_variant
c.1112G>A
p.Arg371His
De novo
GEN910R028
copy_number_loss
De novo
GEN910R029
missense_variant
c.1001T>C
p.Phe334Ser
De novo
GEN910R030
frameshift_variant
c.1151_1154dup
p.Pro386ValfsTer7
De novo
GEN910R031
missense_variant
c.1067C>T
p.Thr356Met
Familial
Paternal
GEN910R032
missense_variant
p.Val374Gly
De novo
GEN910R033
missense_variant
p.His320Arg
De novo
GEN910R034
missense_variant
c.527G>A
p.Gly176Asp
De novo
GEN910R035
frameshift_variant
c.690dup
p.Asp231ArgfsTer3
De novo
GEN910R036
missense_variant
c.1124G>A
p.Arg375Gln
De novo
GEN910R037
missense_variant
c.908G>T
p.Cys303Phe
De novo
GEN910R038
missense_variant
c.1135G>A
p.Gly379Arg
De novo
GEN910R039
splice_site_variant
c.1062+1G>A
De novo
GEN910R040
missense_variant
c.1036G>T
p.Val346Phe
Unknown
GEN910R041
inframe_deletion
c.141_143delGGA
p.Glu47del
De novo
Extended multiplex
GEN910R042
inframe_deletion
c.233_241del
p.His78_His80del
Unknown
No Common Variants Available
14
Deletion-Duplication
23
No Interactions Available
