AutismKB 2.0

Annotation Detail for PNPLA5


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Basic Information Top
Gene Symbol:PNPLA5 ( GS2L,dJ388M5,dJ388M5.4 )
Gene Full Name: patatin-like phospholipase domain containing 5
Band: 22q13.31
Quick LinksEntrez ID:150379; OMIM: 611589; Uniprot ID:PLPL5_HUMAN; ENSEMBL ID: ENSG00000100341; HGNC ID: 24888
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_138814
  • Location:chr22 42606891-42619189
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 42628715 42629034 319 9685
p130 QuiescentGSE19898 42629544 42629708 164 10437
p130 shRbQuiescentGSE19898 42628749 42629261 512 9816
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 42605660 42605962 302 1081
Rb QuiescentGSE19898 42605974 42606080 106 865
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 42608356 42608777 421 0
CTCF G2GSE9613 42610242 42610708 466 0
CTCF G2GSE9613 42611070 42611500 430 0
SRF GMOGSE8489 42614305 42614606 301 0
hScc1 BcellGSE12603 42611070 42612867 1797 0
hScc1 CdLSGSE12603 42612045 42612640 595 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