CHD8 (chromodomain helicase DNA binding protein 8)

2010-08-01  

Identity

HGNC
CHD8
LOCATION
14q11.2
LOCUSID
57680
ALIAS
AUTS18,HELSNF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57680
MIM: 610528
HGNC: 20153
Ensembl: ENSG00000100888

Variants:

dbSNP: 57680
ClinVar: 57680
TCGA: ENSG00000100888
COSMIC: CHD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100888ENST00000399982Q9HCK8
ENSG00000100888ENST00000430710Q9HCK8
ENSG00000100888ENST00000553283G3V2T9
ENSG00000100888ENST00000553622G3V303
ENSG00000100888ENST00000553870H0YJA4
ENSG00000100888ENST00000555935H0YJG4
ENSG00000100888ENST00000555962A0A2R8YFI9
ENSG00000100888ENST00000557364Q9HCK8
ENSG00000100888ENST00000642518A0A2R8YFT4
ENSG00000100888ENST00000643469Q9HCK8
ENSG00000100888ENST00000645140A0A2R8Y4P3
ENSG00000100888ENST00000645929Q9HCK8
ENSG00000100888ENST00000646063A0A2R8Y808
ENSG00000100888ENST00000646340A0A2R8Y840
ENSG00000100888ENST00000646647Q9HCK8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402

References

Pubmed IDYearTitleCitations
384416082024CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.0
386225402024Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.0
384416082024CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.0
386225402024Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.0
378020442023Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.2
378020442023Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.2
353857342022CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.26
361829502022The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.8
362222382022Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle.1
365372382022CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.6
365752122022The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1.4
353857342022CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories.26
361829502022The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.8
362222382022Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle.1
365372382022CHD8 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)