SETDB1
Homo sapiens
Gene Name: SET domain, bifurcated 1
Aliases: RP11-316M1.1, ESET, H3-K9-HMTase4, KG1T, KMT1E
Chromosome No: 1
Chromosome Band: 1q21.3
Genetic Category: Rare single gene variant-
Aliases: RP11-316M1.1, ESET, H3-K9-HMTase4, KG1T, KMT1E
Chromosome No: 1
Chromosome Band: 1q21.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
ASD Reports: 5
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A total of nine ASD-specific variants in the SETDB1 gene were identified in cases but not controls. One of these variants, SETDB1 Pro1067del, segregated with disease in a multiplex ASD family (Cukier et al., 2012). An additional missense variant in SETDB1, p.Pro529Leu, was enriched in ASD cases of European ancestry(5/202 cases vs. 1/198 controls).
Molecular Function
Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3, which represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
ASD
Support
A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Recent Recommendation
The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN460R001
inframe_deletion
c.3200del
p.Pro1067LeufsTer2
Familial
Maternal
Multiplex
GEN460R002
missense_variant
c.1586C>T
p.Pro529Leu
Familial
Maternal (4 cases), paternal (1 case)
Simplex
GEN460R010
synonymous_variant
c.3772G>T
p.Ala1258Ser
Unknown
Unknown
Unknown
GEN460R011
missense_variant
c.262G>A
p.Ala88Thr
De novo
Unknown
Common
No Common Variants Available
