TMEM39B
Homo sapiens
Gene Name: transmembrane protein 39B
Aliases:
Chromosome No: 1
Chromosome Band: 1p35.2
Genetic Category: Rare single gene variant-
Aliases:
Chromosome No: 1
Chromosome Band: 1p35.2
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
ASD Reports: 5
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo missense variant in the TMEM39B gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, a de novo frameshift variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014., and a maternally-transmitted frameshift variant in this gene was identified in one of two affected siblings from a multiplex ASD family from the iHART cohort (Ruzzo et al., 2019). Two separate studies used TADA analysis to identify TMEM39B as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019; Ruzzo et al., 2019).
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD
