SYNE1
Homo sapiens
Gene Name: spectrin repeat containing, nuclear envelope 1
Aliases: 8B, CPG2, ARCA1, EDMD4, MYNE1, SCAR8
Chromosome No: 6
Chromosome Band: 6q25.2
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: 8B, CPG2, ARCA1, EDMD4, MYNE1, SCAR8
Chromosome No: 6
Chromosome Band: 6q25.2
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 23
Recent Reports: 3
Annotated variants: 46
Associated CNVs: 7
Evidence score: 3
ASD Reports: 23
Recent Reports: 3
Annotated variants: 46
Associated CNVs: 7
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the SYNE1 gene have been identified with autism (O'Roak et al., 2011) as well as with cerebellar ataxia and myogenic arthrogryposis multiplex congenita.
Molecular Function
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Positive Association
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
ASD, ADHD, BPD, MDD, SCZ
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Microcephaly
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Association at SYNE1 in both bipolar disorder and recurrent major depression.
BPD, UP
Support
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
ID
Support
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Brain abnormalities, microcephaly
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Highly Cited
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
ARCA1
Highly Cited
Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction.
Recent Recommendation
Using whole-exome sequencing to identify inherited causes of autism.
ASD
Recent Recommendation
SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice.
Recent Recommendation
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
AMC
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN244R001a
splice_site_variant
c.15705-12A>G
Familial
Both parents
Unknown
GEN244R002a
splice_site_variant
c.16177-2A>G
Familial
Both parents
Unknown
GEN244R003a
stop_gained
c.8716A>T
p.Arg2096Ter
Familial
Both parents
Unknown
GEN244R004a
frameshift_variant
3343338-3343342delATTTG
Familial
Both parents
Unknown
GEN244R005a
stop_gained
c.22918C>T
p.Gln7640Ter
Familial
Both parents
Unknown
GEN244R006a
splice_site_variant
c.24313-2A>G
p.His8105ValfsTer8
Familial
Both parents
Extended multiplex
GEN244R008a
missense_variant
c.9616C>A
p.Leu3206Met
Familial
Both parents
Multiplex
GEN244R010
missense_variant
c.2548C>T
p.Leu850Phe
Familial
Extended multiplex (at least one pair of ASD affec
GEN244R017a
missense_variant
c.939G>C
p.Lys313Asn
Familial
Both parents
Multiplex
GEN244R037
stop_gained
c.682C>T
p.Arg228Ter
Familial
Maternal
Extended multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN244C001
intron_variant
rs70018
c.3048+688C>T;c.3027+688C>T;c.2997+688C>T;c.2976+688C>T;c.2907+688C>T;c.2889+688C>T
A/G
Pyschiatrics Genomic Consortium (PGC): 33,332 cases (with ASD, ADHD, bipolar disorder, major depressive disorder, and schizophrenia) and 27,888 controls
Discovery
GEN244C002
intron_variant
rs9371601
c.1653+2159C>A;c.1632+2159C>A;c.1602+2159C>A;c.1581+2159C>A;c.1512+2159C>A
T/G
1527 BPD cases and 1579 controls
Discovery
GEN244C003
intron_variant
rs9371601
c.1653+2159C>A;c.1632+2159C>A;c.1602+2159C>A;c.1581+2159C>A;c.1512+2159C>A
T/G
1159 UP cases and 2592 controls (from WTCCC and independent controls)
Discovery
