AutismKB 2.0

Annotation Detail for ATP13A4


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Basic Information Top
Gene Symbol:ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name: ATPase type 13A4
Band: 3q29
Quick LinksEntrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249; HGNC ID: 25422
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_032279
  • Location:chr3 194602560-194755389
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 194772883 194773168 285 17636
CTCF CD4SISSRdata 194772883 194773168 285 17636
CTCF G2GSE9613 194764309 194764795 486 9163
CTCF G2GSE9613 194772846 194773301 455 17684
RARA MCF7GSE15244 194772927 194773301 374 17725
hScc1 BcellGSE12603 194772846 194773301 455 17684
hScc1 CdLSGSE12603 194772846 194773301 455 17684
hScc1 G2GSE9613 194772846 194773301 455 17684
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 194594526 194594695 169 7950
STAT1 HeLaGSE12783 194591185 194593213 2028 10362
STAT1 IFNSISSRdata 194592065 194592915 850 10071
TFAP2C MCF7GSE21234 194592133 194592891 758 10049
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 194618255 194619158 903 0
CBP T30-glioblastomaGSE21026 194618494 194618791 297 0
CTCF CD4GSE12889 194662242 194662421 179 0
CTCF CD4SISSRdata 194662242 194662421 179 0
CTCF JurkatGSE12889 194662235 194662414 179 0
CTCF G2GSE9613 194638961 194639144 183 0
CTCF G2GSE9613 194662095 194662385 290 0
CTCF G2GSE9613 194671278 194671423 145 0
CTCF G2GSE9613 194717732 194717917 185 0
FOXA1 MCF7GSE15244 194754914 194755610 696 0
KLF4 hESGSE17917 194754795 194754956 161 0
RARA MCF7GSE15244 194662734 194662948 214 0
Stat6 IL-4-hr4GSE17850 194748741 194749276 535 0
TFAP2C MCF7GSE21234 194619166 194619835 669 0
TFAP2C MCF7GSE21234 194730891 194731328 437 0
hScc1 BcellGSE12603 194662131 194662385 254 0
hScc1 G2GSE9613 194662131 194662385 254 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


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