H2BC11H2B clustered histone 11
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
2 / 0Aliases
H2BC11, H2B/r, H2BFR, H2BJ, HIST1H2BJAssociated Syndromes
-Chromosome Band
6p22.1Associated Disorders
-Relevance to Autism
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family.
External Links
SFARI Genomic Platforms
Reports related to H2BC11 (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Support | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder | Tammimies K , et al. (2015) | Yes | - |
| 3 | Recent Recommendation | Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism | Du Y , et al. (2019) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.316G>T | p.Glu106Ter | stop_gained | De novo | - | - | 26325558 | Tammimies K , et al. (2015) | |
| c.145G>A | p.Val49Ile | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
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
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Reports Added
[New Scoring Scheme]7/1/2019
Increased from to 4
Description
A de novo missense variant in the H2BC11 gene (formerly known as HIST1H2BJ) was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014, while a de novo nonsense variant in this gene was identified in a Canadian ASD proband in Tammimies et al., 2015. TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified H2BC11 as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).