AutismKB 2.0

Annotation Detail for ATP6AP1L


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Basic Information Top
Gene Symbol:ATP6AP1L ( MGC138396 )
Gene Full Name: ATPase, H+ transporting, lysosomal accessory protein 1-like
Band: 5q14.2
Quick LinksEntrez ID:92270; OMIM: NA; Uniprot ID:VAS1L_HUMAN; ENSEMBL ID: ENSG00000205464; HGNC ID: 28091
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_001017971
  • Location:chr5 81636921-81649901
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 81628667 81628891 224 8143
Nanog hESGSE18292 81625521 81626101 580 11111
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 81666113 81666919 806 16615
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 81643970 81644301 331 0
CTCF G2GSE9613 81643788 81644394 606 0
ER E2-MCF7GSE14664 81642222 81642259 37 0
NRSF mAbJurkat 81646958 81647434 476 0
Nanog hESGSE18292 81637623 81638114 491 0
Rb shRbSenescenceGSE19898 81636965 81637172 207 0
hScc1 BcellGSE12603 81643788 81644322 534 0
hScc1 CdLSGSE12603 81643851 81644290 439 0
hScc1 G2GSE9613 81643788 81644434 646 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