RBM27
Homo sapiens
Gene Name: RNA binding motif protein 27
Aliases: ARRS1, Psc1, ZC3H18, ZC3H20
Chromosome No: 5
Chromosome Band: 5q32
Genetic Category: Rare single gene variant
Aliases: ARRS1, Psc1, ZC3H18, ZC3H20
Chromosome No: 5
Chromosome Band: 5q32
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the RBM27 gene have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=4.63 x 10-3) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
This gene encodes a protein of unknown function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
ID, epilepsy/seizures
Microcephaly
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
