Annotation Detail for HSD17B10

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Basic Information Top

Gene Symbol:	HSD17B10 ( 17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1 )
Gene Full Name:	hydroxysteroid (17-beta) dehydrogenase 10
Band:	Xp11.22
Quick Links	Entrez ID:3028; OMIM: 300256; Uniprot ID:HCD2_HUMAN; ENSEMBL ID: ENSG00000072506; HGNC ID: 4800
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:1 results
Predicted PTM Sites by profile HMM from dbPTM:1 results

Location(AA)	Modification
2	N-acetylalanine.

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

RefSeq ID: NM_001037811
Location:chrX 53474930-53478047
strand:-

Upstream the gene:15 results
Downstream the gene:0 results
Inside the gene:1 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	53479701	53479932	231	1769
CTCF	CD4	GSE12889	53489778	53489912	134	11798
CTCF	CD4	SISSRdata	53479701	53479932	231	1769
CTCF	CD4	SISSRdata	53489778	53489912	134	11798
CTCF	Hela	GSE12889	53479754	53479934	180	1797
CTCF	Hela	GSE12889	53489696	53489936	240	11769
CTCF	G2	GSE9613	53479829	53480160	331	1947
CTCF	G2	GSE9613	53484347	53485721	1374	6987
CTCF	G2	GSE9613	53489964	53490476	512	12173
Oct1	Hela	GSE14283	53488048	53488081	33	10017
STAT1	HeLa	GSE12783	53481339	53483042	1703	4143
hScc1	G2	GSE9613	53484347	53484725	378	6489
hScc1	G2	GSE9613	53485239	53485653	414	7399
hScc1	G2	GSE9613	53489964	53490186	222	12028
p130	shRbQuiescent	GSE19898	53484416	53484802	386	6562

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	53477448	53477946	498	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
27688	EST		chrX	53332896	53378759	3111	mRNA	HADH2	chrX	53341230	53344341	Non-exonic Bidirectional (NOB) pairs

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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