SETBP1
Homo sapiens
Gene Name: SET binding protein 1
Aliases: SEB
Chromosome No: 18
Chromosome Band: 18q12.3
Genetic Category: Rare single gene variant-Syndromic--Functional
Associated Syndrome(s): Autosomal dominant mental retardation-29
Aliases: SEB
Chromosome No: 18
Chromosome Band: 18q12.3
Genetic Category: Rare single gene variant-Syndromic--Functional
Associated Syndrome(s): Autosomal dominant mental retardation-29
Summary Statistics:
ASD Reports: 32
Recent Reports: 3
Annotated variants: 99
Associated CNVs: 6
Evidence score: 4
ASD Reports: 32
Recent Reports: 3
Annotated variants: 99
Associated CNVs: 6
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A de novo LoF variant (frameshift) was identified in a simplex ASD case from the Simons Simplex Collection (O'Roak et al., 2012). More recently, eight loss-of-function variants, three of which were de novo in origin, were identified in patients from DD/ID cohorts; social difficulties and/or other behavioral difficulties were observed in four of these patients (Coe et al., 2014).
Molecular Function
The protein encoded by this gene has been shown to bind the SET nuclear oncogene, which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150], a disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.
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
Clinical delineation of SETBP1 haploinsufficiency disorder
Autosomal dominant mental retardation-29, DD, ID
ASD, ADHD, epilepsy/seizures
Support
De novo mutations in moderate or severe intellectual disability.
ID
Microcephaly
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
ADHD, autistic features
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
ASD
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
ID
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
DD (motor delay, language delay), epilepsy/seizure
Support
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"
DD, ID
Epilepsy/seizures, stereotypy
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Support
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
DD, ID
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Schinzel-Giedion syndrome
ID
Support
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Childhood apraxia of speech
DD, ID, epilepsy/seizures
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID, epilepsy/seizures
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID
Speech delay
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
Epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
DD, ID
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
DD, ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN640R013
missense_variant
c.1877G>A
p.Arg626Gln
Familial
Paternal
Simplex
GEN640R014
missense_variant
c.2218G>A
p.Glu740Lys
Familial
Maternal
Simplex
GEN640R015
missense_variant
c.3962G>A
p.Arg1321His
Familial
Paternal
Simplex
GEN640R016
missense_variant
c.3017A>G
p.Tyr1006Cys
Familial
Paternal
Simplex
GEN640R017
missense_variant
c.2267C>T
p.Pro756Leu
Familial
Paternal
Simplex
GEN640R018
missense_variant
c.3029C>T
p.Thr1010Ile
Familial
Maternal
Simplex
GEN640R019
missense_variant
c.3460C>T
p.His1154Tyr
Familial
Paternal
Simplex
GEN640R026
missense_variant
c.2561C>G
p.Ser854Cys
De novo
Simplex
GEN640R056
frameshift_variant
c.2199_2203del
p.Glu734AlafsTer19
De novo
Simplex
GEN640R061
frameshift_variant
c.2044_2046delinsAT
p.Leu682IlefsTer9
Unknown
Multiplex
GEN640R097
frameshift_variant
c.944_945dup
p.Asp316TrpfsTer28
Familial
Maternal
Multi-generational
Common
No Common Variants Available
