AutismKB 2.0

Annotation Detail for ECHDC3


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Basic Information Top
Gene Symbol:ECHDC3 ( FLJ20909 )
Gene Full Name: enoyl CoA hydratase domain containing 3
Band: 10p14
Quick LinksEntrez ID:79746; OMIM: NA; Uniprot ID:ECHD3_HUMAN; ENSEMBL ID: ENSG00000134463; HGNC ID: 23489
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_024693
  • Location:chr10 11824388-11846069
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11807307 11807598 291 16936
CTCF CD4SISSRdata 11807307 11807598 291 16936
CTCF JurkatGSE12889 11807280 11807553 273 16972
Oct4 hESGSE17917 11806963 11807239 276 17288
hScc1 BcellGSE12603 11806957 11808169 1212 16826
hScc1 CdLSGSE12603 11806913 11807750 837 17057
hScc1 G2GSE9613 11807062 11807826 764 16945
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 11848247 11848282 35 2195
Nanog hESGSE18292 11864961 11865161 200 18992
hScc1 BcellGSE12603 11864657 11865128 471 18823
hScc1 CdLSGSE12603 11864657 11865238 581 18878
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 11831229 11831823 594 0
CTCF CD4GSE12889 11839932 11840284 352 0
CTCF CD4SISSRdata 11839932 11840284 352 0
PHF8 Hs68minusFBSGSE20725 11824051 11824779 728 0
PHF8 Hs68plusFBSGSE20725 11824098 11824930 832 0
RARA MCF7GSE15244 11839447 11839936 489 0
RARG MCF7GSE15244 11839325 11840066 741 0
hScc1 BcellGSE12603 11824460 11825140 680 0
hScc1 BcellGSE12603 11839697 11840884 1187 0
hScc1 CdLSGSE12603 11839662 11840451 789 0
hScc1 G2GSE9613 11839483 11840341 858 0
p63 keratinocytesGSE17611 11828902 11829806 904 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