KDM1B
Homo sapiens
Gene Name: lysine demethylase 1B
Aliases: AOF1, C6orf193, LSD2
Chromosome No: 6
Chromosome Band: 6p22.3
Genetic Category: Rare single gene variant
Aliases: AOF1, C6orf193, LSD2
Chromosome No: 6
Chromosome Band: 6p22.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo likely gene-disruptive variant in the KDM1B gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo damaging missense variant in this gene was identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified KDM1Bas a gene with a false discovery rate 0.2.
Molecular Function
Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
