| Type | Description |
|---|---|
| Definition | chromodomain helicase DNA binding protein 8 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:29:00 | The human chd8 gene is transcribed from two distant upstream promoters. | 32854944 |
| 2021-03-06 13:27:00 | High conditions enhance the progression in cholangiocarcinoma via upregulation of MAN2A2 and CHD8. | 33141432 |
| 2021-01-09 13:25:00 | Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. | 31771860 |
| 2021-01-09 13:25:00 | Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes. | 31526516 |
| 2020-07-25 11:32:00 | Our study shows that haploinsufficiency of CHD8 is associated with a distinctive OGID syndrome with pronounced autistic traits and supports a sex-dependent penetrance of CHD8 PTVs in humans. | 31001818 |
| Type | IDs |
|---|---|
| Synonymous | AUTS18, HELSNF1 |
| Gene |
UniProtKB-ID:
CHD8_HUMAN
UniprotKB:
Q9HCK8
UniParc:
UPI00002375B9,
UPI0000229655
EMBL:
AL135744,
BC036920,
BC025964,
BC011695,
BC073903,
AB046784,
AL834524,
AL161747,
BC063693,
CB043942,
CR749315,
AK131077,
BC098452
Ensembl:
ENSG00000100888
KO:
hsa:57680
|
| Nucleutide sequences |
EMBL-CDS:
AAH25964.1,
AAH63693.1,
CAD39180.1,
BAC85127.1,
AAH98452.1,
AAH11695.2,
BAB13390.3,
CAH18170.1,
AAH73903.1,
AAH36920.1
Ensembl_TRS:
ENST00000399982,
ENST00000643469,
ENST00000430710,
ENST00000646647,
ENST00000645929,
ENST00000557364
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000495070,
ENSP00000382863,
ENSP00000406288,
ENSP00000494402,
ENSP00000451601,
ENSP00000495240
RefSeq:
NP_065971.2,
NP_001164100.1
|
| Others |
UniRef100:
UniRef100_Q9HCK8
UniRef90:
UniRef90_Q9HCK8
UniRef50:
UniRef50_Q9HCK8
UniGene:
Hs.530698
CCDS:
CCDS53885.1,
CCDS45081.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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