MFRP
Homo sapiens
Gene Name: Membrane frizzled-related protein
Aliases: MCOP5, NNO2, RD6
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare single gene variant
Aliases: MCOP5, NNO2, RD6
Chromosome No: 11
Chromosome Band: 11q23.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 3
ASD Reports: 8
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN765R004
frameshift_variant
c.1333_1334del
p.Asp445LeufsTer7
Unknown
Not maternal
GEN765R008
frameshift_variant
c.490dup
p.Tyr164LeufsTer37
Familial
Paternal
Simplex
Common
No Common Variants Available