AutismKB 2.0

Annotation Detail for PNPLA4


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Basic Information Top
Gene Symbol:PNPLA4 ( DXS1283E,GS2 )
Gene Full Name: patatin-like phospholipase domain containing 4
Band: Xp22.31
Quick LinksEntrez ID:8228; OMIM: 300102; Uniprot ID:PLPL4_HUMAN; ENSEMBL ID: ENSG00000006757; HGNC ID: 24887
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45GXSXG.
116Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
46O-linkedHMM predict
46Phosphoserine(IKK)HMM predict
77Phosphoserine(PKG)HMM predict
191Phosphoserine(ATM)HMM predict
201Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004650
  • Location:chrX 7826803-7855442
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7869791 7870023 232 14465
GABP k562GSE8489 7854532 7856676 2144 162
Oct1 H2O2-HelaGSE14283 7869159 7869206 47 13740
Oct1 HelaGSE14283 7869143 7869204 61 13731
hScc1 CdLSGSE12603 7869682 7869995 313 14396
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 7818757 7819198 441 7826
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7854002 7854283 281 0
CTCF CD4SISSRdata 7854002 7854283 281 0
CTCF G2GSE9613 7853848 7854225 377 0
PHF8 HeLaGSE20725 7854806 7856067 1261 0
hScc1 BcellGSE12603 7853848 7854257 409 0
hScc1 CdLSGSE12603 7853707 7854435 728 0
hScc1 CdLSGSE12603 7855142 7855569 427 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