ERMNermin
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
7 / 0Aliases
ERMN, JN, KIAA1189Associated Syndromes
-Chromosome Band
2q24.1Associated Disorders
-Relevance to Autism
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
Molecular Function
The protein encoded by the ERMN gene plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. It may also play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS.
External Links
SFARI Genomic Platforms
Reports related to ERMN (1 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders | Homs A , et al. (2016) | Yes | - |
Rare Variants (7)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.7+1G>T | - | splice_site_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) | |
- | - | intergenic_variant | Familial | Maternal | Simplex | 27404287 | Homs A , et al. (2016) | |
c.565G>A | p.Asp189Asn | missense_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) | |
c.595A>C | p.Ile199Leu | missense_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) | |
c.692A>G | p.Glu231Gly | missense_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) | |
c.823T>G | p.Ser275Ala | missense_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) | |
c.830G>A | p.Arg277Gln | missense_variant | Unknown | - | - | 27404287 | Homs A , et al. (2016) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
Reports Added
[New Scoring Scheme]7/1/2016
Increased from to 4
Description
Analysis of methylation changes in blood DNA from 53 male ASD patients and 757 healthy controls found that hypomethylation caused by rare genetic variants (meSNVs) at six loci significantly associated with ASD (q-value <0.05); among the meSNVs identified was a differentially methylated CpG (DMCpG) at the GALNT5-ERMN locus in two ASD cases, one of whom displayed ERMN overexpression (Homs et al., 2016). Resequencing of top candidate genes in additional ASD cases and reanalysis of 931 previously reported ASD exomes available from dbGAP identified a significant increase in the mutation load of ERMN in ASD cases compared to controls (P=0.046), which became more significant if population-specific variants were excluded (P=7.97E-05).
Krishnan Probability Score
Score 0.49404661784764
Ranking 3855/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.0031015254764955
Ranking 10962/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.84697229060573
Ranking 3357/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.054544977745424
Ranking 10569/20870 scored genes
[Show Scoring Methodology]