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Relevance to Autism

Rare inherited loss-of-function variants in the ZNF548 gene were identified in ASD probands from the Simons Simplex Collection (Krumm et al., 2015) and in Chinese ASD probands (Guo et al., 2017). Transmission and De Novo Association (TADA) analysis of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified the ZNF548 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.00529); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.

Molecular Function

May be involved in transcriptional regulation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN965R001 
 frameshift_variant 
 c.890del 
 p.Thr297AsnfsTer224 
 Familial 
 Paternal 
 Simplex 
 GEN965R002 
 frameshift_variant 
 c.890_891del 
 p.Thr297MetfsTer13 
 Familial 
 Maternal 
 Simplex 
 GEN965R003 
 stop_gained 
 c.835C>T 
 p.Arg279Ter 
 Familial 
 Maternal 
 Simplex 
 GEN965R004 
 stop_gained 
 c.853C>T 
 p.Arg285Ter 
 Familial 
 Paternal 
 Simplex 
 GEN965R005 
 stop_gained 
 c.1483C>T 
 p.Gln495Ter 
 Familial 
 Maternal 
 Simplex 
 GEN965R006 
 stop_gained 
 c.101G>A 
 p.Trp34Ter 
 Familial 
  
  
 GEN965R007 
 frameshift_variant 
 c.1394_1395del 
 p.Glu465ValfsTer6 
 Familial 
  
  
 GEN965R008 
 frameshift_variant 
 c.1354_1355del 
 p.Trp452GlufsTer19 
 Familial 
  
  
 GEN965R009 
 frameshift_variant 
 c.1354_1355del 
 p.Trp452GlufsTer19 
 Familial 
  
  
 GEN965R010 
 frameshift_variant 
 c.323_324dup 
 p.Leu109PhefsTer146 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Duplication
 1
 
19
Duplication
 5
 
19
Deletion-Duplication
 20
 

No Animal Model Data Available

 

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