Annotation Detail for ALDH8A1

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Basic Information Top

Gene Symbol:	ALDH8A1 ( ALDH12,DJ352A20.2,DKFZp779D2315,MGC138650 )
Gene Full Name:	aldehyde dehydrogenase 8 family, member A1
Band:	6q23.3
Quick Links	Entrez ID:64577; OMIM: 606467; Uniprot ID:AL8A1_HUMAN; ENSEMBL ID: ENSG00000118514; HGNC ID: 15471
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
83	Phosphoserine.

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_022568
Location:chr6 135280221-135312936
strand:-

Upstream the gene:2 results
Downstream the gene:3 results
Inside the gene:12 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
USF1	HepG2	E	135314184	135315023	839	1667
USF2	HepG2	E	135314791	135315023	232	1971

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	Fulvestrant-MCF7	GSE14664	135261243	135261284	41	18958
Oct1	Hela	GSE14283	135274647	135274675	28	5561
p63	keratinocytes	GSE17611	135271455	135272367	912	8311

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	135303705	135304013	308	0
CTCF	CD4	SISSRdata	135303705	135304013	308	0
CTCF	Jurkat	GSE12889	135303766	135303966	200	0
CTCF	G2	GSE9613	135281258	135281501	243	0
NFkBII	GM10847	GSE19485	135301636	135302539	903	0
NFkBII	GM12892	GSE19485	135301305	135302428	1123	0
Oct1	Hela	GSE14283	135287941	135288034	93	0
STAT1	HeLa	GSE12782	135299338	135300603	1265	0
STAT1	HeLa	GSE12783	135299372	135300540	1168	0
hScc1	Bcell	GSE12603	135308990	135309307	317	0
hScc1	CdLS	GSE12603	135301789	135302149	360	0
hScc1	CdLS	GSE12603	135303355	135304001	646	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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