RERE
Homo sapiens
Gene Name: Arginine-glutamic acid dipeptide (RE) repeats
Aliases: RP11-141M15.2, ARG, ARP, ATN1L, DNB1
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare single gene variant-Syndromic-Genetic association-Functional-Rare single gene variant/Functional
Aliases: RP11-141M15.2, ARG, ARP, ATN1L, DNB1
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare single gene variant-Syndromic-Genetic association-Functional-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 17
Recent Reports: 1
Annotated variants: 38
Associated CNVs: 14
Evidence score: 4
ASD Reports: 17
Recent Reports: 1
Annotated variants: 38
Associated CNVs: 14
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
Two novel overlapping CNVs involving the RERE gene were identified in unrelated ASD cases (Prasad et al., 2012).
Molecular Function
Plays a role as a transcriptional repressor during development and may play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Neurodevelopmental disorder with or without anomal
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
DD, ID
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN491R007
inframe_insertion
c.4313_4314insTCCACC
p.Leu1438_His1439insProPro
De novo
GEN491R011
frameshift_variant
c.3122del
p.Pro1041LeufsTer40
Unknown
Multi-generational
GEN491R013
frameshift_variant
c.1104del
p.Leu369CysfsTer16
Unknown
Not maternal
GEN491R014
frameshift_variant
c.2249_2250insCTCCCTCCTCAGCTCCTCCAGG
p.Pro751SerfsTer43
De novo
Multiplex
GEN491R022
inframe_insertion
c.4313_4314insTCCACC
p.Leu1438_His1439insProPro
De novo
GEN491R023
inframe_insertion
c.4313_4314insTCCACC
p.Leu1438_His1439insProPro
De novo
GEN491R031
frameshift_variant
c.1512dup
p.Tyr505ValfsTer37
Familial
Maternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN491C001
intron_variant
rs34269918
c.1448-87delT;c.-215-87delT;c.1322-87delT;c.644-87delT
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
