Annotation Detail for HSD3B7

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Basic Information Top

Gene Symbol:	HSD3B7 ( PFIC4,SDR11E3 )
Gene Full Name:	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Band:	16p11.2
Quick Links	Entrez ID:80270; OMIM: 607764; Uniprot ID:3BHS7_HUMAN; ENSEMBL ID: ENSG00000099377; HGNC ID: 18324
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:7 results

No data

Location(AA)	Modification	Resource
97	Phosphoserine(CDC2)	HMM predict
151	Phosphotyrosine(SRC)	HMM predict
151	Phosphotyrosine(Abl)	HMM predict
151	Phosphotyrosine(Jak)	HMM predict
151	Phosphotyrosine(Syk)	HMM predict
328	N-linked	HMM predict
329	O-linked	HMM predict

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

RefSeq ID: NM_025193
Location:chr16 30904032-30907971
strand:+

Upstream the gene:5 results
Downstream the gene:2 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	30903729	30904058	329	139
CTCF	CD4	SISSRdata	30903729	30904058	329	139
CTCF	G2	GSE9613	30903630	30904339	709	48
hScc1	Bcell	GSE12603	30903600	30904445	845	10
hScc1	CdLS	GSE12603	30903477	30904266	789	161

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	30908602	30909203	601	931
Oct1	Hela	GSE14283	30908407	30908480	73	472

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
TFAP2C	MCF7	GSE21234	30903907	30904632	725	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
9855	mRNA	HSD3B7	chr16	30904032	30907972	415	mRNA		chr16	30903456	30905034	Sense/Antisense (SA) 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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