Identity
HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
AUTS18,HELSNF1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57680
MIM: 610528
HGNC: 20153
Ensembl: ENSG00000100888
Variants:
dbSNP: 57680
ClinVar: 57680
TCGA: ENSG00000100888
COSMIC: CHD8
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38441608 | 2024 | CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. | 0 |
| 38622540 | 2024 | Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions. | 0 |
| 38441608 | 2024 | CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. | 0 |
| 38622540 | 2024 | Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions. | 0 |
| 37802044 | 2023 | Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction. | 2 |
| 37802044 | 2023 | Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction. | 2 |
| 35385734 | 2022 | CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. | 26 |
| 36182950 | 2022 | The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. | 8 |
| 36222238 | 2022 | Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle. | 1 |
| 36537238 | 2022 | CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. | 6 |
| 36575212 | 2022 | The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1. | 4 |
| 35385734 | 2022 | CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. | 26 |
| 36182950 | 2022 | The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8. | 8 |
| 36222238 | 2022 | Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle. | 1 |
| 36537238 | 2022 | CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing. | 6 |
Citation
Dessen P
CHD8 (chromodomain helicase DNA binding protein 8)
Atlas Genet Cytogenet Oncol Haematol. 2010-08-01
Online version: http://atlasgeneticsoncology.org/gene/51568/chd8-(chromodomain-helicase-dna-binding-protein-8)
