SBF1
Homo sapiens
Gene Name: SET binding factor 1
Aliases: C22:RP4-579N16.2, DENND7A, MTMR5
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare Single Gene variant-
Aliases: C22:RP4-579N16.2, DENND7A, MTMR5
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 8
Evidence score: 3
ASD Reports: 11
Recent Reports: 1
Annotated variants: 12
Associated CNVs: 8
Evidence score: 3
| Associated Disorders: |
|
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)
Molecular Function
This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation.
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
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Charcot-Marie-Tooth syndrome
Microcephaly
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN473R004a
missense_variant
c.1327G>A
p.Asp443Asn
Familial
Both parents
Multiplex
GEN473R007
missense_variant
c.4857C>G
p.Asp1619Glu
Familial
Maternal
Multi-generational
GEN473R011a
missense_variant
c.5311C>T
p.Arg1771Cys
Familial
Both parents
Simplex
Common
No Common Variants Available
