AutismKB 2.0

Annotation Detail for ETV2


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Basic Information Top
Gene Symbol:ETV2 ( ER71,ETSRP71,MGC129834,MGC129835 )
Gene Full Name: ets variant 2
Band: 19q13.12
Quick LinksEntrez ID:2116; OMIM: 609358; Uniprot ID:B3KUL0_HUMAN; ENSEMBL ID: ENSG00000105672; HGNC ID: 3491
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014209
  • Location:chr19 40824498-40827612
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 40824962 40825390 428 0
Pol2 GM12878GSE19551 40825977 40826737 760 0
hScc1 BcellGSE12603 40826135 40826352 217 0
hScc1 BcellGSE12603 40827067 40827870 803 0
p130 shRbSenescentGSE19898 40826208 40826709 501 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

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