CHD8
Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:610528 Ensembl IDEnsembl:ENSG00000100888 HGNC IDHGNC:HGNC:20153 PHARMGKB IDPA134957052 Map Location14q11.2 | |||||
GO terms in CHD8
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISS | GO:0002039 | p53 binding |
| MF | IMP | GO:0003677 | DNA binding |
| MF | IMP | GO:0003678 | DNA helicase activity |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
Gene expression in normal tissue: CHD8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CHD8
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
| wikipathways | WP428 | Wnt Signaling Pathway |
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CHD8
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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