AutismKB 2.0

Annotation Detail for C2CD4A


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Basic Information Top
Gene Symbol:C2CD4A ( DKFZp686O2263,FAM148A,NLF1 )
Gene Full Name: C2 calcium-dependent domain containing 4A
Band: 15q22.2
Quick LinksEntrez ID:145741; OMIM: 610343; Uniprot ID:C2C4A_HUMAN; ENSEMBL ID: ENSG00000198535; HGNC ID: 33627
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_207322
  • Location:chr15 60146493-60148392
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 60146064 60146794 730 65
NRSF mAbJurkat 60145523 60147030 1507 217
NRSF-poly JurkatQuESTdata 60146144 60146727 583 58
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 60151225 60151551 326 2996
CTCF CD4SISSRdata 60151225 60151551 326 2996
FoxA1 MCF7MACSdata 60155578 60155704 126 7249
Oct1 H2O2-HelaGSE14283 60154875 60154952 77 6521
Oct1 HelaGSE14283 60167020 60167053 33 18644
STAT1 HeLaGSE12782 60166706 60168121 1415 19021
STAT1 HeLaGSE12783 60166740 60168394 1654 19175
TFAP2C MCF7GSE21234 60167087 60167580 493 18941
hScc1 BcellGSE12603 60151224 60151608 384 3024
hScc1 CdLSGSE12603 60151224 60151608 384 3024
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 60147403 60148107 704 0
NRSF-mono JurkatQuESTdata 60146244 60146787 543 0
hScc1 BcellGSE12603 60147066 60148107 1041 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