AutismKB 2.0

Annotation Detail for PNPLA3


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Basic Information Top
Gene Symbol:PNPLA3 ( ADPN,C22orf20,iPLA(2)epsilon )
Gene Full Name: patatin-like phospholipase domain containing 3
Band: 22q13.31
Quick LinksEntrez ID:80339; OMIM: 609567; Uniprot ID:PLPL3_HUMAN; ENSEMBL ID: ENSG00000100344; HGNC ID: 18590
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
49GXSXG.
89N-linked (GlcNAc...) (Potential).
280N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025225
  • Location:chr22 42650951-42674780
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 42646295 42647032 737 4288
RARG MCF7GSE15244 42641410 42641763 353 9365
TFAP2C MCF7GSE21234 42638556 42639112 556 12118
TFAP2C MCF7GSE21234 42646336 42646794 458 4387
hScc1 BcellGSE12603 42640833 42641057 224 10007
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 42673178 42673435 257 0
CTCF CD4SISSRdata 42673178 42673435 257 0
CTCF HelaGSE12889 42673110 42673380 270 0
CTCF G2GSE9613 42672808 42673663 855 0
PHF8 HeLaGSE20725 42650560 42652210 1650 0
TFAP2C MCF7GSE21234 42653109 42653658 549 0
hScc1 BcellGSE12603 42650912 42651388 476 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