AutismKB 2.0

Annotation Detail for TFAP2D


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Basic Information Top
Gene Symbol:TFAP2D ( TFAP2BL1 )
Gene Full Name: transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
Band: 6p12.3
Quick LinksEntrez ID:83741; OMIM: 610161; Uniprot ID:AP2D_HUMAN; ENSEMBL ID: ENSG00000008197; HGNC ID: 15581
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
239Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172238
  • Location:chr6 50789215-50848703
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50782341 50782681 340 6705
H3K27me3 colorectalcancer 50786611 50787578 967 2121
NRSF JurkatGSE13047 50774708 50775442 734 14141
NRSF JurkatSISSRdata 50774858 50775423 565 14075
NRSF mAbJurkat 50773640 50776106 2466 14343
NRSF mAbJurkat 50779878 50781977 2099 8288
NRSF-mono JurkatQuESTdata 50774777 50775441 664 14107
NRSF-poly JurkatQuESTdata 50774819 50775411 592 14101
TAF k562GSE8489 50780070 50780531 461 8915
hScc1 BcellGSE12603 50782299 50782545 246 6794
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 50860811 50860902 91 12153
p63 keratinocytesGSE17611 50861324 50862385 1061 13151
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 50789965 50790597 632 0
H3K27me3 colorectalcancer 50790920 50791624 704 0
NRSF JurkatGSE13047 50795507 50796920 1413 0
NRSF mAbJurkat 50790845 50800019 9174 0
NRSF-mono JurkatQuESTdata 50796115 50797237 1122 0
NRSF-poly JurkatQuESTdata 50795993 50796860 867 0
Nanog ESGSE20650 50815346 50815745 399 0
Oct1 H2O2-HelaGSE14283 50845173 50845201 28 0
Oct1 HelaGSE14283 50813920 50813951 31 0
Oct4 hESGSE21916 50793650 50794163 513 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