AutismKB 2.0

Annotation Detail for EFCAB7


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Basic Information Top
Gene Symbol:EFCAB7 ( DKFZp666D225,KIAA1799,RP4-534K7.1 )
Gene Full Name: EF-hand calcium binding domain 7
Band: 1p31.3
Quick LinksEntrez ID:84455; OMIM: NA; Uniprot ID:EFCB7_HUMAN; ENSEMBL ID: ENSG00000203965; HGNC ID: 29379
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_032437
  • Location:chr1 63761855-63810950
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 63761038 63762299 1261 187
Oct4 hESGSE17917 63761434 63761846 412 216
Rb SenescentGSE19898 63761336 63761983 647 196
p130 shRbQuiescentGSE19898 63761145 63762135 990 216
p130 shRbSenescentGSE19898 63761233 63762240 1007 119
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 63813530 63813746 216 2688
CTCF CD4SISSRdata 63813530 63813746 216 2688
Myc hESGSE17917 63812527 63812813 286 1720
Nanog ESGSE20650 63812418 63813228 810 1873
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 63776262 63776607 345 0
CTCF CD4SISSRdata 63776262 63776607 345 0
CTCF G2GSE9613 63795816 63796002 186 0
GABP k562GSE8489 63760104 63763913 3809 0
H3ac HepG2E 63761775 63762217 442 0
H3ac HepG2E 63787076 63787398 322 0
Oct1 HelaGSE14283 63786855 63786892 37 0
RNAII Tamoxifen-MCF7GSE14664 63786862 63786913 51 0
STAT1 HeLaGSE12783 63795588 63796483 895 0
STAT1 IFNSISSRdata 63795504 63796342 838 0
p63 keratinocytesGSE17611 63785670 63786621 951 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