HMGN1high mobility group nucleosome binding domain 1
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
0 / 9Aliases
HMGN1, HMG14Associated Syndromes
-Chromosome Band
21q22.2Associated Disorders
-Relevance to Autism
Genetic association has been found between common SNPs near the HMGN1 gene and ASD in an AGRE cohort (Abuhatzira et al., 2011). In addition, that study also showed that HMGN1 functionally binds the human MECP2 promoter.
Molecular Function
Binds to the inner side of nucleosomal DNA, thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in an unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2.
External Links
SFARI Genomic Platforms
Reports related to HMGN1 (1 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | The chromatin-binding protein HMGN1 regulates the expression of methyl CpG-binding protein 2 (MECP2) and affects the behavior of mice | Abuhatzira L , et al. (2011) | Yes | - |
Rare Variants
No rare variants reported.
Common Variants (9)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.-100+7700T>C;c.234+1488T>C;c.-100+7531T>C;c.-100+7548T>C;c.-100+7737T>C;c.-100+800T>C | C/T | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | A/G | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | C/A | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | C/T | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | G/A | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | G/T | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
- | T/C | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
c.610-313A>G | C/T | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) | |
c.49G>A;c.-69+686G>A | T/C | intergenic_variant | - | - | - | 22009741 | Abuhatzira L , et al. (2011) |
SFARI Gene score
Strong Candidate
Genetic association has been found between common SNPs near the HMGN1 gene and ASD in an AGRE cohort (Abuhatzira et al., 2011). In addition, that study also showed that HMGN1 functionally binds the human MECP2 promoter.
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.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
Genetic association has been found between common SNPs near the HMGN1 gene and ASD in an AGRE cohort (Abuhatzira et al., 2011). In addition, that study also showed that HMGN1 functionally binds the human MECP2 promoter.
Reports Added
[New Scoring Scheme]7/1/2014
Increased from No data to 3
Description
Genetic association has been found between common SNPs near the HMGN1 gene and ASD in an AGRE cohort (Abuhatzira et al., 2011). In addition, that study also showed that HMGN1 functionally binds the human MECP2 promoter.
4/1/2014
Increased from No data to 3
Description
Genetic association has been found between common SNPs near the HMGN1 gene and ASD in an AGRE cohort (Abuhatzira et al., 2011). In addition, that study also showed that HMGN1 functionally binds the human MECP2 promoter.
Krishnan Probability Score
Score 0.49353027420632
Ranking 4096/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.42536546230996
Ranking 5849/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.88719308428209
Ranking 5309/18665 scored genes
[Show Scoring Methodology]
Larsen Cumulative Evidence Score
Score 11
Ranking 172/461 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.097645437224335
Ranking 12270/20870 scored genes
[Show Scoring Methodology]
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
---|---|---|---|---|---|
BTG2 | BTG family, member 2 | Human | DNA Binding | 7832 | P78543 |
PRKACG | protein kinase, cAMP-dependent, catalytic, gamma | Human | Protein Modification | 5568 | P22612 |
SLC38A3 | solute carrier family 38, member 3 | Human | Protein Binding | 10991 | Q99624 |
SPP1 | secreted phosphoprotein 1 | Human | Protein Binding | 6696 | P10451 |
TLR4 | toll-like receptor 4 | Mouse | Protein Binding | 21898 | Q9QUK6 |