Annotation Detail for DEFB110

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Basic Information Top

Gene Symbol:	DEFB110 ( DEFB-10,DEFB-11,DEFB111,MGC183056,MGC190230 )
Gene Full Name:	defensin, beta 110
Band:	6p12.3
Quick Links	Entrez ID:245913; OMIM: NA; Uniprot ID:DB110_HUMAN; ENSEMBL ID: ENSG00000203970; HGNC ID: 18091
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:2 results

No data

Location(AA)	Modification	Resource
58	Serine	HMM predict
61	S-farnesyl	HMM predict

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

RefSeq ID: NM_001037728
Location:chr6 50084810-50097606
strand:-

Upstream the gene:0 results
Downstream the gene:2 results
Inside the gene:0 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	Hela	GSE14283	50065887	50065918	31	18908
Oct1	Hela	GSE14283	50080344	50080422	78	4428

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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