AutismKB 2.0

Annotation Detail for TFAP4


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Basic Information Top
Gene Symbol:TFAP4 ( AP-4,bHLHc41 )
Gene Full Name: transcription factor AP-4 (activating enhancer binding protein 4)
Band: 16p13.3
Quick LinksEntrez ID:7023; OMIM: 600743; Uniprot ID:TFAP4_HUMAN; ENSEMBL ID: ENSG00000090447; HGNC ID: 11745
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
124Phosphoserine.
139Phosphoserine.
Location(AA) Modifications Resource
124Phosphoserine.Swiss-Prot 53.0
124PhosphoserinePhospho.ELM 6.0
139Phosphoserine.Swiss-Prot 53.0
139PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
20Phosphothreonine(PKC)HMM predict
37Phosphothreonine(MAPK)HMM predict
123Phosphoserine(CDK)HMM predict
124Phosphoserine(PKC)HMM predict
124Phosphoserine(CDC2)HMM predict
252O-linkedHMM predict
310Phosphoserine(CK2)HMM predict
310O-linkedHMM predict
312O-linkedHMM predict
316Phosphoserine(IKK)HMM predict
319Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003223
  • Location:chr16 4247188-4263010
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 4278479 4278791 312 15625
CTCF CD4SISSRdata 4278479 4278791 312 15625
CTCF JurkatGSE12889 4278411 4278718 307 15554
CTCF G2GSE9613 4262718 4263459 741 78
CTCF G2GSE9613 4263802 4264126 324 954
CTCF G2GSE9613 4278243 4278793 550 15508
FoxA1 MCF7MACSdata 4280396 4280543 147 17459
H3K4me3 colorectalcancer 4263014 4263459 445 226
Oct4 hESGSE17917 4278567 4278837 270 15692
Rb QuiescentGSE19898 4262905 4263139 234 12
Rb SenescentGSE19898 4262618 4263458 840 28
hScc1 BcellGSE12603 4262858 4263502 644 170
hScc1 BcellGSE12603 4278123 4278793 670 15448
hScc1 CdLSGSE12603 4278123 4278793 670 15448
p130 QuiescentGSE19898 4262897 4263152 255 14
p130 SenescentGSE19898 4262906 4263140 234 13
p130 shRbQuiescentGSE19898 4262896 4263496 600 186
p130 shRbSenescentGSE19898 4262902 4263154 252 18
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 4243980 4244492 512 2953
CTCF CD4SISSRdata 4243980 4244492 512 2953
CTCF G2GSE9613 4231700 4232488 788 15095
CTCF G2GSE9613 4243582 4244256 674 3270
ER E2-MCF7GSE14664 4232176 4232208 32 14997
Myc K562GSE19551 4234021 4234794 773 12781
Oct1 HelaGSE14283 4232173 4232204 31 15000
Oct1 HelaGSE14283 4239286 4239322 36 7885
PHF8 293TGSE20725 4243176 4243930 754 3636
PHF8 Hs68plusFBSGSE20725 4242896 4244393 1497 3544
RNAII Tamoxifen-MCF7GSE14664 4243738 4243832 94 3404
TFAP2C MCF7GSE21234 4243276 4244387 1111 3357
hScc1 BcellGSE12603 4244008 4244256 248 3057
hScc1 CdLSGSE12603 4243428 4244256 828 3347
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 4251666 4251884 218 0
CTCF CD4SISSRdata 4251666 4251884 218 0
CTCF JurkatGSE12889 4251653 4251917 264 0
CTCF G2GSE9613 4251557 4252863 1306 0
CTCF G2GSE9613 4261701 4262221 520 0
ER MCF7GSE19013 4250153 4250936 783 0
ETS1 JurkatGSE17954 4261119 4262632 1513 0
Fos K562GSE19551 4256320 4256818 498 0
Myc hESGSE17917 4261780 4262007 227 0
Nanog hESGSE18292 4256452 4256708 256 0
PHF8 293TGSE20725 4261061 4263277 2216 0
PHF8 Hs68plusFBSGSE20725 4261079 4262560 1481 0
Rb GrowingGSE19898 4262695 4262899 204 0
Rb shRbSenescenceGSE19898 4262779 4263120 341 0
TFAP2C MCF7GSE21234 4260788 4262050 1262 0
VDR GM10861-UnstimGSE22484 4260888 4264419 3531 0
VDR GM10861-stimGSE22484 4260662 4264505 3843 0
hScc1 BcellGSE12603 4251658 4251934 276 0
hScc1 BcellGSE12603 4260849 4261324 475 0
hScc1 BcellGSE12603 4261801 4262294 493 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
681 Unknown MicroArray miR-373 TFAP4 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000090447 n_a n_a n_a lymphocyte "benign tumour, malignant tumour, carcinoma"
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