AutismKB 2.0

Annotation Detail for AP4S1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AP4S1 ( AP47B,CLA20,CLAPS4,FLJ32366 )
Gene Full Name: adaptor-related protein complex 4, sigma 1 subunit
Band: 14q12
Quick LinksEntrez ID:11154; OMIM: 607243; Uniprot ID:AP4S1_HUMAN; ENSEMBL ID: ENSG00000100478; HGNC ID: 575
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_007077
  • Location:chr14 30564643-30624757
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 30629252 30630740 1488 5239
USF2 HepG2E 30629252 30630674 1422 5206
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 30621047 30621314 267 0
CTCF CD4SISSRdata 30621047 30621314 267 0
CTCF G2GSE9613 30564847 30565206 359 0
CTCF G2GSE9613 30620793 30621163 370 0
ER E2-MCF7GSE14664 30610438 30610470 32 0
ER Fulvestrant-MCF7GSE14664 30581305 30581342 37 0
Fos K562GSE19551 30577297 30578115 818 0
GABP HelaGSE8489 30616992 30617570 578 0
Gata1 K562GSE18868 30598365 30598918 553 0
Gata2 K562GSE18868 30598484 30599016 532 0
H3ac HepG2E 30565497 30566308 811 0
H3ac HepG2E 30567875 30568463 588 0
Myc K562GSE19551 30587381 30587867 486 0
Myc K562GSE19551 30598528 30598883 355 0
Oct1 H2O2-HelaGSE14283 30581306 30581337 31 0
Oct1 HelaGSE14283 30581305 30581338 33 0
Oct1 HelaGSE14283 30602657 30602690 33 0
PHF8 293TGSE20725 30564160 30565750 1590 0
RARG MCF7GSE15244 30566130 30566308 178 0
Rb QuiescentGSE19898 30598690 30598840 150 0
STAT1 HeLaGSE12783 30598134 30599567 1433 0
STAT1 IFNSISSRdata 30598279 30598929 650 0
TAF k562GSE8489 30597197 30597443 246 0
USF2 HepG2E 30572477 30572831 354 0
hScc1 BcellGSE12603 30564637 30565165 528 0
hScc1 BcellGSE12603 30620725 30621348 623 0
hScc1 CdLSGSE12603 30564212 30565735 1523 0
hScc1 CdLSGSE12603 30620725 30621404 679 0
p130 SenescentGSE19898 30565246 30565475 229 0
p130 SenescentGSE19898 30565751 30566113 362 0
p130 shRbQuiescentGSE19898 30565610 30566089 479 0
p130 shRbSenescentGSE19898 30564839 30565114 275 0
p130 shRbSenescentGSE19898 30565170 30565511 341 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