AutismKB 2.0

Annotation Detail for PNPLA8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PNPLA8 ( IPLA2(GAMMA),IPLA2-2,IPLA2G )
Gene Full Name: patatin-like phospholipase domain containing 8
Band: 7q31.1
Quick LinksEntrez ID:50640; OMIM: 612123; Uniprot ID:PLPL8_HUMAN; ENSEMBL ID: ENSG00000135241; HGNC ID: 28900
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4N-linked (GlcNAc...) (Potential).
361N-linked (GlcNAc...) (Potential).
485GXSXG.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015723
  • Location:chr7 107899306-107953873
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 107953208 107954599 1391 30
Gata2 K562GSE18868 107965803 107966464 661 12260
Myc hESGSE17917 107968848 107969203 355 15152
Nanog ESGSE20650 107969198 107969652 454 15552
Oct1 HelaGSE14283 107954673 107954710 37 818
PHF8 HeLaGSE20725 107953013 107954817 1804 42
Rb QuiescentGSE19898 107953807 107954243 436 152
Rb SenescentGSE19898 107953476 107954465 989 97
Rb shRbSenescenceGSE19898 107953864 107954269 405 193
p130 QuiescentGSE19898 107953554 107954219 665 13
p130 shRbQuiescentGSE19898 107953457 107954367 910 39
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 107924753 107925176 423 0
CTCF CD4SISSRdata 107924753 107925176 423 0
CTCF G2GSE9613 107924777 107925253 476 0
CTCF G2GSE9613 107953541 107953940 399 0
GABP k562GSE8489 107950386 107950961 575 0
GABP k562GSE8489 107952504 107953694 1190 0
H3K4me3 colorectalcancer 107953028 107953454 426 0
Myc K562GSE19551 107916807 107917181 374 0
PHF8 Hs68plusFBSGSE20725 107952998 107954633 1635 0
STAT1 HeLaGSE12783 107916316 107917497 1181 0
TAF HelaGSE8489 107950386 107950961 575 0
TAF HelaGSE8489 107952504 107953454 950 0
hScc1 BcellGSE12603 107924777 107925276 499 0
hScc1 BcellGSE12603 107953541 107953908 367 0
hScc1 CdLSGSE12603 107924742 107925313 571 0
hScc1 G2GSE9613 107924742 107925253 511 0
p130 SenescentGSE19898 107953085 107954491 1406 0
p130 shRbSenescentGSE19898 107953286 107954293 1007 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